Big sissy taking little sissy for a spin
Tuesday, April 6, 2010
Our new...normal...life :)
So I am sorry I have not updated in a while as I forget that there are some who read this blog and are not on my Facebook :) We went to Boston last week and Maddie did super! She was such a trooper and rarely complained the entire time! Best part of all...NO TUMORS!! As suspected she had nothing wrong with her heart or kidney's! Now at least I can say I know she doesn't have TS. I guess the doctor's in Boston will feel 100 percent better about saying that after her MRI in 6 months...That is right- we do not have to go back for 6 months!!! Oh I am so happy about this!!! We can just focus on her development and catching her up now...
Which I should say seems to be the name of the game these days! Maddie is officially saying Mama again!!!!Boy am I loving that! She is also repeating Many more words here and there. I do think she is really close to "getting it" with the whole speech thing. I think she will one day soon "get it" and just realize how to say the words and say a ton at once. For now we will stick with "stuck" and "all du".
I am not sure I mentioned this in a post before this one but Maddie sorta just stopped saying words all together right before the diagnosis was made. We are working toward getting those words (like duck and Quack Quack) back again. I feel it is coming soon. She is so aware of the world now and loves being apart of it. It feels so good to not worry about the endless possibilities that were once racing through my mind. Maddie just seems so "normal" these days...It is a new way of life for us all for sure.
So in terms of her treatment. She is now on her 3rd set of eye drops. Eye drop #1 was the best and worst thing they could have put her on. Best because she was basically cured when on these...Best moods she has ever been in. Worst because these drops caused her pressure in her eyes to increase too quickly and can cause glaucoma and cataracts in a very short period of time...also worst because putting her on these drops first was a bit of a tease....because she can no longer be on them again...
Eye drops #2- FML drops...Love/hate them...Work sometimes, sometimes do not work so well...I don't like watching her roll her eyes back knowing that the pain has come back....Apparently she needed to try these 1st before going on these new ones...Lotemax 5 times a day. We start these tomorrow. My fingers are crossed.
Really ANYTHING is better than where we were before the diagnosis...but it is hard to know now what she is like at her best, and not have that all the time. It was quite the tease :) Her eye doctor said that she foresees Maddie being on a steroid drop for much longer than a year and that the first one she was on could easily cause Glaucoma or permanent sight issues in under a years time.
In school Maddie is doing great with her 1 on 1. She really likes her and I am getting daily notes on observations made and words that Maddie is repeating. I love that!
Maddie is STILL sick with this runny nose and cough and we are going to try and make it w/out antibiotics. It's almost been 3 weeks since it started so we will see.
She went for her 18 month check up today and saw her pediatrician for the first time since the diagnosis. He was very pleased with her BIG eyes and eye contact... She was totally doing toddler things in his office like dumping her food all over the chair and milk all over the floor. She still did not want him to touch her but was able to play in between which she would never do before. I was happy with her cooperation :)
Oh and I hope you all had a great Easter. I got so many nice pictures of the girls in their dresses!
Both girls enjoyed being outside picking up eggs and playing in their dresses like little princesses. We did not do anything too crazy for Easter, church then spent time with extended family, and then had a relaxing...kinda boring day afterward :) I really do think that sometimes people forget how great boring really is. I have many clients from work who discuss how depressed they are...They have such boring lives, nothing exciting...and everything is just the same every day. I try to remind them of how very lucky they are to have that boring life...
Boy do I love having that "boring" life these days!
Happy Spring!
Which I should say seems to be the name of the game these days! Maddie is officially saying Mama again!!!!Boy am I loving that! She is also repeating Many more words here and there. I do think she is really close to "getting it" with the whole speech thing. I think she will one day soon "get it" and just realize how to say the words and say a ton at once. For now we will stick with "stuck" and "all du".
I am not sure I mentioned this in a post before this one but Maddie sorta just stopped saying words all together right before the diagnosis was made. We are working toward getting those words (like duck and Quack Quack) back again. I feel it is coming soon. She is so aware of the world now and loves being apart of it. It feels so good to not worry about the endless possibilities that were once racing through my mind. Maddie just seems so "normal" these days...It is a new way of life for us all for sure.
So in terms of her treatment. She is now on her 3rd set of eye drops. Eye drop #1 was the best and worst thing they could have put her on. Best because she was basically cured when on these...Best moods she has ever been in. Worst because these drops caused her pressure in her eyes to increase too quickly and can cause glaucoma and cataracts in a very short period of time...also worst because putting her on these drops first was a bit of a tease....because she can no longer be on them again...
Eye drops #2- FML drops...Love/hate them...Work sometimes, sometimes do not work so well...I don't like watching her roll her eyes back knowing that the pain has come back....Apparently she needed to try these 1st before going on these new ones...Lotemax 5 times a day. We start these tomorrow. My fingers are crossed.
Really ANYTHING is better than where we were before the diagnosis...but it is hard to know now what she is like at her best, and not have that all the time. It was quite the tease :) Her eye doctor said that she foresees Maddie being on a steroid drop for much longer than a year and that the first one she was on could easily cause Glaucoma or permanent sight issues in under a years time.
In school Maddie is doing great with her 1 on 1. She really likes her and I am getting daily notes on observations made and words that Maddie is repeating. I love that!
Maddie is STILL sick with this runny nose and cough and we are going to try and make it w/out antibiotics. It's almost been 3 weeks since it started so we will see.
She went for her 18 month check up today and saw her pediatrician for the first time since the diagnosis. He was very pleased with her BIG eyes and eye contact... She was totally doing toddler things in his office like dumping her food all over the chair and milk all over the floor. She still did not want him to touch her but was able to play in between which she would never do before. I was happy with her cooperation :)
Oh and I hope you all had a great Easter. I got so many nice pictures of the girls in their dresses!
Both girls enjoyed being outside picking up eggs and playing in their dresses like little princesses. We did not do anything too crazy for Easter, church then spent time with extended family, and then had a relaxing...kinda boring day afterward :) I really do think that sometimes people forget how great boring really is. I have many clients from work who discuss how depressed they are...They have such boring lives, nothing exciting...and everything is just the same every day. I try to remind them of how very lucky they are to have that boring life...
Boy do I love having that "boring" life these days!
Happy Spring!
Sunday, March 28, 2010
On the Road Again...
So, tomorrow will be HOPEFULLY one of the last days full of tests for miss Madeline. We will be headed off to Boston Children's again for Maddie to have an Electrocardiogram, an Echocardiogram, a Cardio work up evaluation with a Dr. Something :), and finally a Kidney Ultrasound. On top of all this, we got a call Thursday that she will need to be sedated for the heart tests! This will be her 5th time sedated in less than a year! She will not be able to eat after 8:30am and does not go in until 2:00! This will be very difficult.
Maddie is still doing fairly well. Her eyes are good...not SUPER like they were when we first started treatment, but not terrible either. She has been a little clingy and rubbing her eyes a bit again. Also rolling them just a little. Again, it is no where near what she was having before. and she is still a bit sick so I am thinking it should pass. I think I am so worried that it will come back that I am almost too sensitive to any changes she has. I will have to keep reminding myself of that.
Maddie has officially completed her speech eval. I am looking forward to seeing what her therapists writes up about it. I will say we were all SHOCKED when Maddie pretended to feed the baby doll with a spoon and cup. She has never initiated "pretend play" which is a pretty big deal at her age. Yahoo! The best part is that her eval was taped so they got it on tape! Since then I also got an email from her physical therapist that Maddie let the other toddlers in the toddler room hold her hands during an activity. She has never let the other kids touch her before! So I should mention that these things are all important because, while I never convinced myself that Maddie could be autistic, she had a lot of red flags before we figured this eye thing out. I was almost certain that we would be debating some spectrumy disorder at her 18 month check up as possibilities for her behaviors. Nope! No longer headed in that direction...not at all! She clearly WANTS to communicate and learn! She was just in so much pain! That on top of whatever delays the cortical dysplasia that she has was causing. So to be fair, with all the obstacles she has had thus far, I should say that my child is a genius! She has done so much despite these stupid things that she has to deal with.
She is just SO full of life these days! I can not believe she is 18 months! She still feels like my little baby! I am so excited for her to start talking. I know she will just have such a great personality.
She and Paige are getting along like best friends! Of course they fight and now Maddie babbles an argument with her :) but they clearly love each other so much! Maddie's 1 on 1 at school writes me a note everyday on her progress and the other day she wrote how cute it was that Paige and Maddie ran to each other and hugged/kissed when they saw each other in the gym at school. She wrote that they were so happy to see each other. Oh how I love hearing that! We have always tried really hard to make sure that Paige did not feel "left out" with all this stuff going on with Maddie. I also do not want Maddie's "attention" to effect her relationship with Maddie in anyway. I think it appears we are doing a pretty good job so far :)
I will update more after tomorrow's big day. I am more anxious of Maddie needing to fast than the results of the tests this time :) I am pretty confident that they are NOT going to find any tumors. This should hopefully be one step closer to saying goodbye to the idea of Tuberous Sclerosis.
Talk Soon!
Maddie is still doing fairly well. Her eyes are good...not SUPER like they were when we first started treatment, but not terrible either. She has been a little clingy and rubbing her eyes a bit again. Also rolling them just a little. Again, it is no where near what she was having before. and she is still a bit sick so I am thinking it should pass. I think I am so worried that it will come back that I am almost too sensitive to any changes she has. I will have to keep reminding myself of that.
Maddie has officially completed her speech eval. I am looking forward to seeing what her therapists writes up about it. I will say we were all SHOCKED when Maddie pretended to feed the baby doll with a spoon and cup. She has never initiated "pretend play" which is a pretty big deal at her age. Yahoo! The best part is that her eval was taped so they got it on tape! Since then I also got an email from her physical therapist that Maddie let the other toddlers in the toddler room hold her hands during an activity. She has never let the other kids touch her before! So I should mention that these things are all important because, while I never convinced myself that Maddie could be autistic, she had a lot of red flags before we figured this eye thing out. I was almost certain that we would be debating some spectrumy disorder at her 18 month check up as possibilities for her behaviors. Nope! No longer headed in that direction...not at all! She clearly WANTS to communicate and learn! She was just in so much pain! That on top of whatever delays the cortical dysplasia that she has was causing. So to be fair, with all the obstacles she has had thus far, I should say that my child is a genius! She has done so much despite these stupid things that she has to deal with.
She is just SO full of life these days! I can not believe she is 18 months! She still feels like my little baby! I am so excited for her to start talking. I know she will just have such a great personality.
She and Paige are getting along like best friends! Of course they fight and now Maddie babbles an argument with her :) but they clearly love each other so much! Maddie's 1 on 1 at school writes me a note everyday on her progress and the other day she wrote how cute it was that Paige and Maddie ran to each other and hugged/kissed when they saw each other in the gym at school. She wrote that they were so happy to see each other. Oh how I love hearing that! We have always tried really hard to make sure that Paige did not feel "left out" with all this stuff going on with Maddie. I also do not want Maddie's "attention" to effect her relationship with Maddie in anyway. I think it appears we are doing a pretty good job so far :)
I will update more after tomorrow's big day. I am more anxious of Maddie needing to fast than the results of the tests this time :) I am pretty confident that they are NOT going to find any tumors. This should hopefully be one step closer to saying goodbye to the idea of Tuberous Sclerosis.
Talk Soon!
Tuesday, March 23, 2010
Please Pray for Zoe...
First I will say that Maddie is still doing great...Actually is doing amazing! We are thrilled that we have this new child and she is amazing us everyday with what she is now doing! We were told that we can continue her treatment for a few more weeks before having to switch to something else...She will need to switch as the pressure in her eyes are almost certainly already starting to rise.
Maddie is babbling like crazy! She is repeating words randomly again too! Yesterday she said, "bu bu" and waved for Bye, bye! She has such a wonderful new personality it is amazing! We will go to Boston on Monday of next week (Rob is going with me) to have her Cardio testing and then Kidney testing. That should also give us an even clearer answer for Tuberous Sclerosis. I am no longer anxious of these tests though. All along I always had this gut feeling that there was something else wrong...I was right about that and now I no longer have that feeling. I think it is good to get the testing over with to confirm that she does not have this, but I really am convinced that she does not.
On another note, I wanted to talk about a family that I have connected with along our journey of searching for answers for Maddie. Little Zoe is about the same age as Maddie...Like Maddie, Zoe has had a life full of mystery symptoms that has taken control of her life. Unfortunately, Zoe is not getting any better and seems to be suffering more each day. Her parents have spent the last year and a half searching for the answers that could save their little girl. I know they are feeling like they are running out of time, running out of possibilities, running out of answers. I know this because we have felt this same way at times. I am sharing this with you all as I know you all prayed for Maddie and continue to. I also know your prayer have certainly been apart of our finding answers for her. I am asking that you read a note written about Zoe, by her father, one year from the day she began having seizures, and pray for her too. Her family's encouragement helped us stay strong and keep searching. They need this more than ever now. ..
A note from Zoe's Daddy:
Never did I think, 1 year ago as we sat in the hospital with Zoe having uncontrollable episodes for the first time, that a full year later these episodes would be just as bad - if not worse. I would not have believed that at least 2 dozen doctors, specialists and therapists would be completely unable to help her in any way for a full year. In my wildest dreams, I couldn't have imagined that Zoe would not be saying "mama" or "dada"; that not only would she be unable to walk, but still unable to even crawl, or get up into a sitting position on her own, or laugh, or see something she wants and pick it up...
And yet that is where we find ourselves today as Zoe approaches 14 months of age. I'm not writing that out for everyone in a search for sympathy for Sara or I. I'm writing it out because I find this perspective staggering. I wanted to point this out to everyone who's following Zoe's story. Even though we are taught to think otherwise, there is not always a treatment. There is not always a medicine that can help. There isn't always a diagnosis that can explain. In the 21st century, Zoe is proof that humans still don't know anything when you get down to it. We are still in our infancy with regard to medicine. Hell, we're newborns.
So I write this note as a challenge to myself, and to all of you. Where you're able, when you're able, please apply yourselves. It doesn't always have to be like this. There are answers for every question. There are cures for every condition. They simply haven't been found yet. In your corner or your world, using whatever resources you have, please do what you can to help us, as a species, move forward, so that our future generations need not suffer the way Zoe suffers everyday.
-m
Zoe's progress can be followed on facebook as well...If you want to follow you should request Zoe Lain Nicholas as a friend and send a quick note that you would like to follow her progress.
Thanks you all for your prayers!!!
Maddie is babbling like crazy! She is repeating words randomly again too! Yesterday she said, "bu bu" and waved for Bye, bye! She has such a wonderful new personality it is amazing! We will go to Boston on Monday of next week (Rob is going with me) to have her Cardio testing and then Kidney testing. That should also give us an even clearer answer for Tuberous Sclerosis. I am no longer anxious of these tests though. All along I always had this gut feeling that there was something else wrong...I was right about that and now I no longer have that feeling. I think it is good to get the testing over with to confirm that she does not have this, but I really am convinced that she does not.
On another note, I wanted to talk about a family that I have connected with along our journey of searching for answers for Maddie. Little Zoe is about the same age as Maddie...Like Maddie, Zoe has had a life full of mystery symptoms that has taken control of her life. Unfortunately, Zoe is not getting any better and seems to be suffering more each day. Her parents have spent the last year and a half searching for the answers that could save their little girl. I know they are feeling like they are running out of time, running out of possibilities, running out of answers. I know this because we have felt this same way at times. I am sharing this with you all as I know you all prayed for Maddie and continue to. I also know your prayer have certainly been apart of our finding answers for her. I am asking that you read a note written about Zoe, by her father, one year from the day she began having seizures, and pray for her too. Her family's encouragement helped us stay strong and keep searching. They need this more than ever now. ..
A note from Zoe's Daddy:
Never did I think, 1 year ago as we sat in the hospital with Zoe having uncontrollable episodes for the first time, that a full year later these episodes would be just as bad - if not worse. I would not have believed that at least 2 dozen doctors, specialists and therapists would be completely unable to help her in any way for a full year. In my wildest dreams, I couldn't have imagined that Zoe would not be saying "mama" or "dada"; that not only would she be unable to walk, but still unable to even crawl, or get up into a sitting position on her own, or laugh, or see something she wants and pick it up...
And yet that is where we find ourselves today as Zoe approaches 14 months of age. I'm not writing that out for everyone in a search for sympathy for Sara or I. I'm writing it out because I find this perspective staggering. I wanted to point this out to everyone who's following Zoe's story. Even though we are taught to think otherwise, there is not always a treatment. There is not always a medicine that can help. There isn't always a diagnosis that can explain. In the 21st century, Zoe is proof that humans still don't know anything when you get down to it. We are still in our infancy with regard to medicine. Hell, we're newborns.
So I write this note as a challenge to myself, and to all of you. Where you're able, when you're able, please apply yourselves. It doesn't always have to be like this. There are answers for every question. There are cures for every condition. They simply haven't been found yet. In your corner or your world, using whatever resources you have, please do what you can to help us, as a species, move forward, so that our future generations need not suffer the way Zoe suffers everyday.
-m
Zoe's progress can be followed on facebook as well...If you want to follow you should request Zoe Lain Nicholas as a friend and send a quick note that you would like to follow her progress.
Thanks you all for your prayers!!!
Sunday, March 14, 2010
Saturday, March 13, 2010
"Your babies eyes are so big! How beautiful!"
"Your babies eyes are so big! How beautiful!"
I have heard this for the first time in 7 months from a complete stranger! The same words we heard every day we took Maddie out in public before her eye issues started. My beautiful Madeline has her beautiful HUGE eyes back and she is PAIN FREE!!!!! I want to shout from the roof tops to anyone we have crossed paths with through this process. We are meeting our daughter for the first time ever without pain and she is just wonderful!!!
The last couple of days, I have felt the same way I felt when Maddie was first born (Well minus the pain and drugs) and I cannot even describe the feeling! Within 24 hours of her treatment, Maddie became a new child. She was all over the place with excitement! She started to say "ball" and said it over and over! She was SO interested in everything around her and was actually being a true toddler!!! She was so happy to be freed of all her pain and you could just feel it with her.
It doesn't stop there...I brought Maddie this weekend and she was pointing to everyone!!! Complete strangers! Going up to them and giving them goofy faces and pointing!!! I had to chase HER around the store for the first time ever!!! She also tries to climb out of the shopping cart now! She has never tried to do this!! She is just amazing! I knew she wanted to like people. I knew she wanted to learn and do things like other kids...Clearly she was in so much pain she just couldn't. Oh- how I am so proud of her for everything she has been able to learn through all that pain!
Maddie is still taking the steroid drops right now. She goes back in 2 weeks to discuss another treatment as she cannot stay on this for very long due to the high chance it will cause Glaucoma and Cataracts. I am worried about what will happen then, but for now am enjoying our new daughter. It's an awful feeling to know this thing will come back again sometime in the near future. We are going to take it day by day from now on...Today she is pain free and is absolutely loving life, as are we!
In terms of the Tuberous Sclerosis...looks like she still needs to get the heart and kidney test done. I asked Maddie's pediatrician if we could skip these and he discussed it with Dr. Sahin (TS Neuro). They want her to have the tests. So we will be going to Boston in a few weeks to have those tests done. She will still need the MRI at the age of 2 as well. This may sound very confusing to folks who do not know this, but the Eye disease is completely separate from her brain issues. These are 2 DIFFERENT issues...Kinda feels like Maddie won the crappy lottery twice since they are both pretty rare...And the docs just always assumed it was all neurological issues and not eye issues because of the brain stuff. I had a different feeling in my gut and kept pushing...luckily! Also luckily, Maddie has a great pediatrician who may not have always agreed with me, but always respected my ideas and allowed me to keep pushing for answers.
So tonight will be the 4rth night that I get to go to sleep knowing that my little Madeline is not in pain...I used to hate going to bed anxious and worried about what might be going on with her and how to relieve her pain. It really feels great to know that she is happy now.
I am going to write more about this soon but for now want to leave with this last note said; When you are a parent, there are times you can actually feel the pain that your child feels. I know that I felt Maddie's pain in my heart and it kept me digging for answers, despite doctors telling me that it may be impossible to find the answers. I did not give up because I knew they were wrong... and I could feel there was something else wrong. I knew if I did not keep pushing and looking it would continue to get worse (as it did). There is NOTHING more powerful than a parent’s intuition. I am a firm believer in that.
Thank-you all again for ALL the prayers! This truly is a miracle!
I have heard this for the first time in 7 months from a complete stranger! The same words we heard every day we took Maddie out in public before her eye issues started. My beautiful Madeline has her beautiful HUGE eyes back and she is PAIN FREE!!!!! I want to shout from the roof tops to anyone we have crossed paths with through this process. We are meeting our daughter for the first time ever without pain and she is just wonderful!!!
The last couple of days, I have felt the same way I felt when Maddie was first born (Well minus the pain and drugs) and I cannot even describe the feeling! Within 24 hours of her treatment, Maddie became a new child. She was all over the place with excitement! She started to say "ball" and said it over and over! She was SO interested in everything around her and was actually being a true toddler!!! She was so happy to be freed of all her pain and you could just feel it with her.
It doesn't stop there...I brought Maddie this weekend and she was pointing to everyone!!! Complete strangers! Going up to them and giving them goofy faces and pointing!!! I had to chase HER around the store for the first time ever!!! She also tries to climb out of the shopping cart now! She has never tried to do this!! She is just amazing! I knew she wanted to like people. I knew she wanted to learn and do things like other kids...Clearly she was in so much pain she just couldn't. Oh- how I am so proud of her for everything she has been able to learn through all that pain!
Maddie is still taking the steroid drops right now. She goes back in 2 weeks to discuss another treatment as she cannot stay on this for very long due to the high chance it will cause Glaucoma and Cataracts. I am worried about what will happen then, but for now am enjoying our new daughter. It's an awful feeling to know this thing will come back again sometime in the near future. We are going to take it day by day from now on...Today she is pain free and is absolutely loving life, as are we!
In terms of the Tuberous Sclerosis...looks like she still needs to get the heart and kidney test done. I asked Maddie's pediatrician if we could skip these and he discussed it with Dr. Sahin (TS Neuro). They want her to have the tests. So we will be going to Boston in a few weeks to have those tests done. She will still need the MRI at the age of 2 as well. This may sound very confusing to folks who do not know this, but the Eye disease is completely separate from her brain issues. These are 2 DIFFERENT issues...Kinda feels like Maddie won the crappy lottery twice since they are both pretty rare...And the docs just always assumed it was all neurological issues and not eye issues because of the brain stuff. I had a different feeling in my gut and kept pushing...luckily! Also luckily, Maddie has a great pediatrician who may not have always agreed with me, but always respected my ideas and allowed me to keep pushing for answers.
So tonight will be the 4rth night that I get to go to sleep knowing that my little Madeline is not in pain...I used to hate going to bed anxious and worried about what might be going on with her and how to relieve her pain. It really feels great to know that she is happy now.
I am going to write more about this soon but for now want to leave with this last note said; When you are a parent, there are times you can actually feel the pain that your child feels. I know that I felt Maddie's pain in my heart and it kept me digging for answers, despite doctors telling me that it may be impossible to find the answers. I did not give up because I knew they were wrong... and I could feel there was something else wrong. I knew if I did not keep pushing and looking it would continue to get worse (as it did). There is NOTHING more powerful than a parent’s intuition. I am a firm believer in that.
Thank-you all again for ALL the prayers! This truly is a miracle!
Wednesday, March 10, 2010
Mommy always knows!!!
First I am too excited to keep it in...as most of you know by now, we finally have a answer to all this weird behavior that Maddie has exhibited in the last year...She had her exam today under anesthesia and low and behold, Maddie has Thygeson's Disease. This is the rare eye disease that I found a few weeks ago in all my research that I wrote about early on. This is EXTREMELY rare...so rare that they don't even know how many people actually have it. Either way, they found it...both her eyes. She has a pretty bad case of it and we were given some steroids for her eyes. We were told it could be a matter of days before this treatment kicks in and we will have a new child on our hands....a happy, pain free child!!!!!
This is info from an up to date site about the disease...
Thygeson's Disease is a Disease of the Cornea...the Superficial Layer of the Cornea. It is also called Thygeson Superficial Punctate Keratitis or TSPK. "In 1950, Phillips Thygeson published case reports on a superficial punctate keratitis that he described as a transient, bilateral disease, having coarse corneal epithelial opacities and no associated stromal involvement. Today, this condition, now known as Thygeson superficial punctate keratitis (TSPK), is a chronic one, lasting years to decades. Multiple, whitish gray, intraepithelial corneal lesions, are trademark characteristics of the disease. "
Although TSPK has a genetic association with HLA-DR3, controversy exists regarding its exact cause.
Artificial tears, topical corticosteroids, topical cyclosporine, and soft contact lenses are the typical treatment methods for the disease, and the success of these treatments varies according to the severity of the disease.
Although vision may be mildly decreased during the active disease, the long-term visual prognosis is excellent.
Symptoms can include: Burning in eyes, photophobia, gritty feeling in eyes, tearing, and blurred vision.
Here is another site that talks more about it in length...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1312196/?page=1
Ok- so now that you know about the disease, imagine what these symptoms could look like in a 1 year old toddler...this is why I am convinced her behaviors are from this disease along with the Cortical Dysplasia and Heterotopias.
I said it all along...I knew it was her eyes...I just knew it. They said it was neurological because of the stuff in her brain...I knew it wasn't. A Mommy always knows :)
I am so exhausted but wanted to put in this update tonight as this is the biggest news we have had since The MRI at 11 months...Maddie will have to be treated for this for a long time and the treatments are risky for glaucoma and Cataracts...but this is something we can handle. I am hopeful that Maddie's pain will be managed soon and I thank God and all of our friends and family who have been praying for our Maddie...Oh and thanks to my Aunt Patty and the Monks in Missouri who have been praying too:) We heard about those guys :)
I feel like we are now going to be staring our new life together as a family who can focus on the future...Something that has been impossible to do in the last year and a half. I am more proud of Maddie today than I have ever been in her life. She has been going through this pain for over 7 months now and with it continued to make incredible developmental progress.
I will write more soon. We are so exhausted as all this emotion is finally able to be released and we are all breathing again in our home. We finally have answers...finally
This is info from an up to date site about the disease...
Thygeson's Disease is a Disease of the Cornea...the Superficial Layer of the Cornea. It is also called Thygeson Superficial Punctate Keratitis or TSPK. "In 1950, Phillips Thygeson published case reports on a superficial punctate keratitis that he described as a transient, bilateral disease, having coarse corneal epithelial opacities and no associated stromal involvement. Today, this condition, now known as Thygeson superficial punctate keratitis (TSPK), is a chronic one, lasting years to decades. Multiple, whitish gray, intraepithelial corneal lesions, are trademark characteristics of the disease. "
Although TSPK has a genetic association with HLA-DR3, controversy exists regarding its exact cause.
Artificial tears, topical corticosteroids, topical cyclosporine, and soft contact lenses are the typical treatment methods for the disease, and the success of these treatments varies according to the severity of the disease.
Although vision may be mildly decreased during the active disease, the long-term visual prognosis is excellent.
Symptoms can include: Burning in eyes, photophobia, gritty feeling in eyes, tearing, and blurred vision.
Here is another site that talks more about it in length...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1312196/?page=1
Ok- so now that you know about the disease, imagine what these symptoms could look like in a 1 year old toddler...this is why I am convinced her behaviors are from this disease along with the Cortical Dysplasia and Heterotopias.
I said it all along...I knew it was her eyes...I just knew it. They said it was neurological because of the stuff in her brain...I knew it wasn't. A Mommy always knows :)
I am so exhausted but wanted to put in this update tonight as this is the biggest news we have had since The MRI at 11 months...Maddie will have to be treated for this for a long time and the treatments are risky for glaucoma and Cataracts...but this is something we can handle. I am hopeful that Maddie's pain will be managed soon and I thank God and all of our friends and family who have been praying for our Maddie...Oh and thanks to my Aunt Patty and the Monks in Missouri who have been praying too:) We heard about those guys :)
I feel like we are now going to be staring our new life together as a family who can focus on the future...Something that has been impossible to do in the last year and a half. I am more proud of Maddie today than I have ever been in her life. She has been going through this pain for over 7 months now and with it continued to make incredible developmental progress.
I will write more soon. We are so exhausted as all this emotion is finally able to be released and we are all breathing again in our home. We finally have answers...finally
Sunday, March 7, 2010
A Little Bit of Normacy...
So I know a few of you have emailed about an update. Sorry we have really had a rough week with headaches still. I think we are on the road to a turn around yet again. Maddie has really been miserable and now seems to be showing a bit of relief once again...Unfortunately she goes under anesthesia on Wednesday and my biggest fear is that they will not see those silver dots...They seem to disappear as her eyes and headaches get better oddly enough.
She has had such a hard time in the last month with these things that her development seems to be slipping a bit. She stopped saying a lot of random words including the famous "quack quack." She also seemed to be less interested in concentrating on any type of skill that required much thought...Who could blame her with all these freaking headaches! She is taking up to 3 naps a day at school because of them and sleeping about half the time she is at daycare. Not much time for play or development. I think our whole family has been miserable because of this for the entire month of February. It is the worst feeling you could ever feel to watch your little baby screaming in pain, digging her face into the ground, running into walls, etc... and not be able to do a damn thing but scream inside with her.
A lot has gone on in the last week. We had a big team meeting (another one) at Maddie's school to discuss transition, safety issues, and development. I met the speech therapist who will be working with Maddie soon! yahoo!!! We talked about how Maddie was not quite ready for the toddler room. She is not really aware of her surroundings, does not look where she is walking, and does not have the greatest balance in the world...or reflexes. She has been in there before and is just a bit of a hazard we can say :)
So- the plan...Maddie will be able to stay in the infant room a bit longer and have an extra long transition...also as soon as the 1 on 1 is hired (in progress) she will have extra supervision in there. Next, Maddie will start wearing a (Super light weight) helmet to protect her head for a while she works on her balance and reflexes, along with getting used to the toddler room. Maddie's pediatrician has already typed a letter for the daycare so they can get a variance from the state to allow her to stay there longer and also nap in the infant room even after the switch. This way, even after Maddie moves to the toddler room, as soon as she gets a headache, she can go right to the infant room (which is dark).
So Friday we had to start Maddie on antibiotics again as she has been sick (w/ a cold) for a month as well. It seems as though when she is sick, her headaches are so much worse. So needless to say, the antibiotics kicked in right away and Maddie was like a super happy, goofy toddler by Friday afternoon. So yesterday I took a risk and attempted to take both girls out with me shopping...Put Maddie's hat and sunglasses on and brought the extra clip on shad for her stroller. It went pretty well! First time out in a LONG time with both girls. With the clip on shade for the stroller it makes it even harder for other people to look in the stroller which also helps Maddie freak out less...Yahoo...I have figured out a way to be a little bit normal again. It at least felt that way. Today we tried something similar but I think it was a bit too much. Rob took Paige bowling and I stopped in with Maddie for a few bowls. Then I took Maddie with me to a few stores...She kept her glasses and hat on almost all day...Unfortunately at Costco she took them off and I think the lights got a bit too much for her. She started throwing up...for like 20 min...over and over. It wasn't sick throw up...just very thick flem...she was making herself sick. I started to get worried but it stopped and she hasn't done it since. I think it just was a bit too much.
Later, after a very long 3 hour nap, we brought the girls outside to run around on the grass a bit. Maddie kept her gear on and again, for a small period of time, our lives felt normal. The girls were happy and playing and having so much fun. We hadn't been outside playing all winter except at night in the snow. This was the first time Maddie allowed us to keep her glasses and hat on...It felt so good for us all to be out there.
Maddie's pediatrician thinks we will soon need to switch to a more aggressive way to fight these migraines soon. Maddie would need to take a periactin...Which we had been avoiding for the very small increase it has in causing seizures. I think, after Wednesday's exam, we will need to do something different. She can't keep going through this. It is clear misery and I don't know when the next set will come or for how long. I am so thankful that Maddie seems to be a bit relieved today. Which means that we may be headed back to good days...at least for a little while.
I will update after Wednesday's exam. I have to admit, I am nervous. I don't know what I am hoping they will find...I want them to find SOMETHING so we can fix this...but the fear of possibilities are still cycling. What if they find something and it CAN'T be fixed...
We will be holding our breath until after Wednesday.
Sunday, February 28, 2010
Friday, February 26, 2010
Good news on such a bad day...
Today I received an email that Maddie had been approved for a worker to come in and stay with Maddie 1 on 1 at daycare for 20 hours a week! This means that Maddie will have adequate someone to provide safety and supervision just for her for most of her day at daycare! We are so happy! I just received our 1st 2 resumes from potential Care Workers. Maddie's Medical Social worker helped us apply for this only a few weeks ago and we already got an answer! We also got a very nice email from the woman who processed it. We really are blessed to have such an unbelievable team for Maddie. She truly has a lot of people who care about her.
This could not have come at a better time. Maddie had the worst day at daycare that she had ever had. I really feel guilty because I had such a busy day at work, I didn't even call to check in on her. I usually do but her headaches have been minimal lately and she was doing well with her eyes. When I went to pick her up, her teacher at daycare was shaking her head and said Maddie had a TERRIBLE day. She had a migraine in the morning and slept for just over an hour. When she woke up she needed to be held for a long time before she could open her eyes...At lunchtime they said that her eyes were so bad that she couldn't really open them to see her food and did not finish. They put her back to sleep after she had another migraine and she slept for OVER 3 hours!!! She barely sleeps that long at night. Again needed a lot of time to open her eyes upon wakening. I wish they would have called me. I was so sad when I saw her and we couldn't leave for a while because her eyes hurt too bad to bring her out of her room (They always keep the lights off when she has her problem in her room.)
I hate this...There is NOTHING I can do and she is in so much pain...on top of this, she cannot have IB Profin until after her eye procedure in just over a week. I can only give her Tylenol which does nothing. When she has bad days I just want to scream for her. It is taking over her life and I can not stand it. She has such great days in between these attacks that I tend to forget how hard it is until it comes back.
I do think that I may have uncovered a real possibility on what she has...I don't know just yet though so I am waiting until after her eye exam. I have done a lot of research since this started...I know more than any parent should know about a million childhood diseases. This time, I am more confident than I have been about other things. I sent the pediatrician an email about my thoughts...I think he is feeling better about her getting the eye exam now than he was before. This thing is called Thygeson's Disease...It is rare but has a lot of similar symptoms Maddie has with her eyes. There is not much on the internet when searching for it and I have found a group on Facebook called Thygeson's who have their stories to read. It all sounds similar to what Maddie is going through. When I look it up on line it says that it causes minimal symptoms in some, and debilitating symptoms in others. Lasts up to 20 plus years and there is no "cure" or known cause. It can cause years of pain with some relief using steroid drops. Yes this would suck...However, the good news would be that once it is gone, it does not cause any long term effects on her eyes.
This is just 1 more thing to add to the list of possibilities but I think it sounds much more probable in my opinion. We will see. Either way I need to figure out a way to help her through these bad days. The bad one's are literally unreal. I think the daycare may call her doctor as well to get some extra advice on what to do for her. I am SO glad that this extra care person got approved to help them at daycare. It may take Maddie months to allow the new person to touch or interact with her, but eventually she will love the extra attention.
So, other than all that Maddie before today, had been having a great few days. The only issues we have been having with her is that she is CONSTANTLY sick with runny nose and cough. Because she throws up easy, whenever she has a couch, she projectile vomits...Tonight was the first no throw up night in 5 nights :)
Oh, that is right...A few nights ago she threw yet another fit and fell hitting the exact spot on the opposite side of her head and had another one of those hitting head seizures. We were so much calmer this time. She convulsed while flat on her face so she hurt her nose a little but is completely fine now (by the time I got to her she had stopped). Paige was SOOO funny...She remembered everything that happened last time and said, "Is Maddie turning green? Do I need to go to Aunt Tiffy's? Is Maddie going to the big Doctor's?" It was good to laugh a little as it does look so scary.
Paige of course is doing super as usual. Going through a real whiney phase but that is about it. We certainly can handle that :) She is also starting to fib a lot...I knew the day would come. I am taking her on a Paige only day soon so we can spend some alone time together. She loves it when we do this...even though she always asks "Where is Maddie" a bunch of times when we are out.
So next week will be a bit busy. Maddie has a pre-anesthesia physical and a team meeting at school to go over a bunch of transition stuff. I will update more soon.
This could not have come at a better time. Maddie had the worst day at daycare that she had ever had. I really feel guilty because I had such a busy day at work, I didn't even call to check in on her. I usually do but her headaches have been minimal lately and she was doing well with her eyes. When I went to pick her up, her teacher at daycare was shaking her head and said Maddie had a TERRIBLE day. She had a migraine in the morning and slept for just over an hour. When she woke up she needed to be held for a long time before she could open her eyes...At lunchtime they said that her eyes were so bad that she couldn't really open them to see her food and did not finish. They put her back to sleep after she had another migraine and she slept for OVER 3 hours!!! She barely sleeps that long at night. Again needed a lot of time to open her eyes upon wakening. I wish they would have called me. I was so sad when I saw her and we couldn't leave for a while because her eyes hurt too bad to bring her out of her room (They always keep the lights off when she has her problem in her room.)
I hate this...There is NOTHING I can do and she is in so much pain...on top of this, she cannot have IB Profin until after her eye procedure in just over a week. I can only give her Tylenol which does nothing. When she has bad days I just want to scream for her. It is taking over her life and I can not stand it. She has such great days in between these attacks that I tend to forget how hard it is until it comes back.
I do think that I may have uncovered a real possibility on what she has...I don't know just yet though so I am waiting until after her eye exam. I have done a lot of research since this started...I know more than any parent should know about a million childhood diseases. This time, I am more confident than I have been about other things. I sent the pediatrician an email about my thoughts...I think he is feeling better about her getting the eye exam now than he was before. This thing is called Thygeson's Disease...It is rare but has a lot of similar symptoms Maddie has with her eyes. There is not much on the internet when searching for it and I have found a group on Facebook called Thygeson's who have their stories to read. It all sounds similar to what Maddie is going through. When I look it up on line it says that it causes minimal symptoms in some, and debilitating symptoms in others. Lasts up to 20 plus years and there is no "cure" or known cause. It can cause years of pain with some relief using steroid drops. Yes this would suck...However, the good news would be that once it is gone, it does not cause any long term effects on her eyes.
This is just 1 more thing to add to the list of possibilities but I think it sounds much more probable in my opinion. We will see. Either way I need to figure out a way to help her through these bad days. The bad one's are literally unreal. I think the daycare may call her doctor as well to get some extra advice on what to do for her. I am SO glad that this extra care person got approved to help them at daycare. It may take Maddie months to allow the new person to touch or interact with her, but eventually she will love the extra attention.
So, other than all that Maddie before today, had been having a great few days. The only issues we have been having with her is that she is CONSTANTLY sick with runny nose and cough. Because she throws up easy, whenever she has a couch, she projectile vomits...Tonight was the first no throw up night in 5 nights :)
Oh, that is right...A few nights ago she threw yet another fit and fell hitting the exact spot on the opposite side of her head and had another one of those hitting head seizures. We were so much calmer this time. She convulsed while flat on her face so she hurt her nose a little but is completely fine now (by the time I got to her she had stopped). Paige was SOOO funny...She remembered everything that happened last time and said, "Is Maddie turning green? Do I need to go to Aunt Tiffy's? Is Maddie going to the big Doctor's?" It was good to laugh a little as it does look so scary.
Paige of course is doing super as usual. Going through a real whiney phase but that is about it. We certainly can handle that :) She is also starting to fib a lot...I knew the day would come. I am taking her on a Paige only day soon so we can spend some alone time together. She loves it when we do this...even though she always asks "Where is Maddie" a bunch of times when we are out.
So next week will be a bit busy. Maddie has a pre-anesthesia physical and a team meeting at school to go over a bunch of transition stuff. I will update more soon.
Saturday, February 20, 2010
Friday, February 19, 2010
And the Rollercoaster Continues
I am not super happy today in writing this post. We just got back from Boston today as Maddie had her apt with Dr. Sahin (The Tuberous Sclerosis neuro.) I thought this was a wrap of the great news about the genetic testing and how we wouldn't really have to worry about TSC and just move forward. Apparently not.
He said the genetic test can detect 85% of TSC cases and he wants Maddie to have MORE tests...She will need a heart test and a kidney ultrasound. I know these are not invasive tests but I just want the TESTS to be over! I thought this was a thing of the past...except waiting for the MRI at 2. Maddie IS going to have an eye exam under anesthesia on March 10 and he wants the pediatric opto to look for signs of TSC in her eyes as well.
Totally bummer news. Not what I was expecting at all. I went with my friend Stacia so Rob could stay with Paige and we tried to make it as fun as possible. This is our plan now because it really makes it easier on Paige. Maddie did great and did not freak out much at all. Boston Children's always has the best food and Maddie loves all the fun things they have there. She loves it now that she can walk around and point to all the fun pictures and fish. They really have an interesting lobby.
On top of all this Maddie just started to get pink eye! Worst timing with her eye issues already. Hopefully the antibiotics kick in soon!
So there it is...not horrible news but bummer news. It felt great for a few days to forget about the possibility of this being TSC. I am still very hopeful and optomistic that it is not. I never thought it was...but want the for sure to get this behind us. I will post some pics soon too. Below is the pic of Maddie's eye dots that we have been talking about.
He said the genetic test can detect 85% of TSC cases and he wants Maddie to have MORE tests...She will need a heart test and a kidney ultrasound. I know these are not invasive tests but I just want the TESTS to be over! I thought this was a thing of the past...except waiting for the MRI at 2. Maddie IS going to have an eye exam under anesthesia on March 10 and he wants the pediatric opto to look for signs of TSC in her eyes as well.
Totally bummer news. Not what I was expecting at all. I went with my friend Stacia so Rob could stay with Paige and we tried to make it as fun as possible. This is our plan now because it really makes it easier on Paige. Maddie did great and did not freak out much at all. Boston Children's always has the best food and Maddie loves all the fun things they have there. She loves it now that she can walk around and point to all the fun pictures and fish. They really have an interesting lobby.
On top of all this Maddie just started to get pink eye! Worst timing with her eye issues already. Hopefully the antibiotics kick in soon!
So there it is...not horrible news but bummer news. It felt great for a few days to forget about the possibility of this being TSC. I am still very hopeful and optomistic that it is not. I never thought it was...but want the for sure to get this behind us. I will post some pics soon too. Below is the pic of Maddie's eye dots that we have been talking about.
Sunday, February 14, 2010
We are back in business :)
Ok...so after over a week of hell with Madeline's headaches and bad eyes, we have been headache free for 2 days and her eyes were great today. I am not yet convinced that the meds are helping her eyes with photophobia just yet but they are possible helping with the headaches. Maddie woke up with such energy and I knew we were on a turn around. I am optimistic that the meds help keep her in a good place for a while. It is such a great feeling to look in her eyes when they are bright and full of personality.
Maddie started on Magnesium and Riboflavin (B-2). I am keeping my fingers crossed. For now the only side effect is massive water poops...and a red bum :(
We are thrilled of the great news with the TSC test results. Apparently we are 90 percent out of the woods and we will be 100 percent certain it is not TSC when Maddie turns 2 and has her last (hopefully last) MRI. I am certain she only has Cortical Dysplasia (and heterotopias) as a neurological issue....
Now for her eyes:
The patch is gone as it did nothing. The opto talked to me about having Maddie's eyes looked at under anesthesia. I wasn't too excited about the anesthesia but I have been wanting her eyes to be closely looked at since this started so I absolutely agreed. She will have this done in the beginning of next month. I truly believe they will find something in there. I just feel like there is an eye issue and because she has neurological issues, it is easy to say her behavior is neurological.
Maddie's pediatrician disagrees with me and is convinced that she has nothing in her eye. I think this may be the first time through all this that he may be wrong...But we will see...I am glad it can get done and we will know for sure. I know I see what look like little spots on her eyes and have been saying this for a while. Her ped looked at them after putting green dye in her eyes but he couldn't find anything. I am really thinking it may be deeper than the first layer but we will see.
Paige is the best big sister there is...I just need to say this because she is so amazing! With all of the focus always on worrying about Maddie, she just loves her sister so much and is such a trooper. She is always asking, "Is Maddie not feeling so well?" "Do you want me to rub your back Maddie?" She is such a wonderful little girl. I took Paige out with me the other day to go shopping and Paige asked why Maddie couldn't come with us. She just really loves her sister so much!
Her lip continues to look great. She is now enjoying me taking pictures of her so I have been able to get some of her beautiful smile. She always hated me taking her picture so I have had a hard time getting any of her smiling.
Today is Valentine's Day so we all decided to go bowling as a family. Maddie was headache free and her eyes looked great and Paige really was excited. Of course I can't bowl but it was a lot of fun having us all there together and being able to get out of the house as a family. It has really been hard to do that with Maddie's unpredictable behaviors. Paige accidentally threw the ball in the people next to us' gutter once but overall we had a great time. Daddy beat his record and bowled a 248 (not sure how that is possible other than on the Wii) and Paige beat me twice. Maddie was just happy to get out and as long as no adults talked to her she was just perfect :)
I will update more soon. We have a busy week ahead. Maddie goes back to Boston Friday, but at least this time we know we don't have to be so nervous...now that TSC is behind us that is. Well almost :)
Maddie started on Magnesium and Riboflavin (B-2). I am keeping my fingers crossed. For now the only side effect is massive water poops...and a red bum :(
We are thrilled of the great news with the TSC test results. Apparently we are 90 percent out of the woods and we will be 100 percent certain it is not TSC when Maddie turns 2 and has her last (hopefully last) MRI. I am certain she only has Cortical Dysplasia (and heterotopias) as a neurological issue....
Now for her eyes:
The patch is gone as it did nothing. The opto talked to me about having Maddie's eyes looked at under anesthesia. I wasn't too excited about the anesthesia but I have been wanting her eyes to be closely looked at since this started so I absolutely agreed. She will have this done in the beginning of next month. I truly believe they will find something in there. I just feel like there is an eye issue and because she has neurological issues, it is easy to say her behavior is neurological.
Maddie's pediatrician disagrees with me and is convinced that she has nothing in her eye. I think this may be the first time through all this that he may be wrong...But we will see...I am glad it can get done and we will know for sure. I know I see what look like little spots on her eyes and have been saying this for a while. Her ped looked at them after putting green dye in her eyes but he couldn't find anything. I am really thinking it may be deeper than the first layer but we will see.
Paige is the best big sister there is...I just need to say this because she is so amazing! With all of the focus always on worrying about Maddie, she just loves her sister so much and is such a trooper. She is always asking, "Is Maddie not feeling so well?" "Do you want me to rub your back Maddie?" She is such a wonderful little girl. I took Paige out with me the other day to go shopping and Paige asked why Maddie couldn't come with us. She just really loves her sister so much!
Her lip continues to look great. She is now enjoying me taking pictures of her so I have been able to get some of her beautiful smile. She always hated me taking her picture so I have had a hard time getting any of her smiling.
Today is Valentine's Day so we all decided to go bowling as a family. Maddie was headache free and her eyes looked great and Paige really was excited. Of course I can't bowl but it was a lot of fun having us all there together and being able to get out of the house as a family. It has really been hard to do that with Maddie's unpredictable behaviors. Paige accidentally threw the ball in the people next to us' gutter once but overall we had a great time. Daddy beat his record and bowled a 248 (not sure how that is possible other than on the Wii) and Paige beat me twice. Maddie was just happy to get out and as long as no adults talked to her she was just perfect :)
I will update more soon. We have a busy week ahead. Maddie goes back to Boston Friday, but at least this time we know we don't have to be so nervous...now that TSC is behind us that is. Well almost :)
Monday, February 8, 2010
A Day to Remember!!!!
I am so tired so this is going to be brief but I needed to get exciting news out. Today we got a call from the geneticist in Boston...She had both of our test results and Rob carries the variant on the TSC1 gene. It is NOT causing Tuberous Sclerosis!!!!!! It IS the genetic link to her having Cortical Dysplasia which we already knew she had. This is such great news! We needed it as Maddie has had a terrible week thus far with headaches and bad eyes. Her pediatrician is going to start Maddie on a bit of a cocktail...no not really, but a combo of Magnesium and something else to try and prevent these migraines. He is actually thinking that her photophobia may be caused from having a migraine problem. Migraines are common in cortical dysplasia....Maddie is just pretty young for migraines but we will see. I am glad we are trying something other than nothing.
There is a lot more going on and I will blog more about it soon...Maddie has been a nightmare with her loopiness, headaches and crying so I am pooped. I am just extremely excited about this news!!! We can move forward and put that behind us all!
There is a lot more going on and I will blog more about it soon...Maddie has been a nightmare with her loopiness, headaches and crying so I am pooped. I am just extremely excited about this news!!! We can move forward and put that behind us all!
Friday, February 5, 2010
Transition Meeting...
We had a team meeting yesterday at Maddie's Dr's office to discuss where things are at for her medically and what to do to support her transition to the Toddler room. I think it went well as we covered a lot of information in a short period of time. We talked about how well Maddie was doing in terms of her strength and beginning to problem solve.
I was relieved to discuss the nap issues in the Toddler room. This is one of the biggest concern I have with her transition. In the toddler room they only take 1 nap and it is at a specific time. Well that would never work with Maddie. She NEEDS more than 1 nap and it has to be when she starts getting loopy, not at a specific time. Either way everyone agreed she needed this and we will be able to bring a little play pen in for them to use for her when this happens.
In the next 2 weeks we should if Maddie has TS or not. I have a feeling she does not have this...but am not quite sure how I will feel if she does. I can only imagine that her case would be mild as she has yet to develop significant problems that most with TS have at her age. Her doctor reminded me that TS has a mind of it's own and can manifest at different times in different people. However, Maddie is doing so well compared to many other kid's her age who have TS, I would imagine that it would be mild for her...that is just my opinion. I am sure I will feel different if I hear that she does have TS, and probably freak out...I don't know.
I am trying really hard to not obsess about it like I used to. It is too hard on everyone and we are just going to take everything one day at a time from now on. Maddie has made huge improvements despite her medical issues. I am so proud of her for that.
Maddie has had headaches 3 days in a row :( I am home with her today and she is doing a little better. Her eyes have been bad last 3 days on and off as well. I am giving her a lot of motrin which I think helps with the headaches.
On another note I am still trying to finish painting all the kitchen cabinets to get our place ready to sell. We would like to move eventually but are really struggling on where to. We love Maddie's workers but they only work in the town we live in. I am not super thrilled with living in Milton...and not convinced I love the schools. With that said, we really need to get a bigger place for the girls to have their own rooms. Maddie waking Paige up at night really does not help Paige at school....So we will be thinking about this...even though we are a long ways away from moving at this point.
I was relieved to discuss the nap issues in the Toddler room. This is one of the biggest concern I have with her transition. In the toddler room they only take 1 nap and it is at a specific time. Well that would never work with Maddie. She NEEDS more than 1 nap and it has to be when she starts getting loopy, not at a specific time. Either way everyone agreed she needed this and we will be able to bring a little play pen in for them to use for her when this happens.
In the next 2 weeks we should if Maddie has TS or not. I have a feeling she does not have this...but am not quite sure how I will feel if she does. I can only imagine that her case would be mild as she has yet to develop significant problems that most with TS have at her age. Her doctor reminded me that TS has a mind of it's own and can manifest at different times in different people. However, Maddie is doing so well compared to many other kid's her age who have TS, I would imagine that it would be mild for her...that is just my opinion. I am sure I will feel different if I hear that she does have TS, and probably freak out...I don't know.
I am trying really hard to not obsess about it like I used to. It is too hard on everyone and we are just going to take everything one day at a time from now on. Maddie has made huge improvements despite her medical issues. I am so proud of her for that.
Maddie has had headaches 3 days in a row :( I am home with her today and she is doing a little better. Her eyes have been bad last 3 days on and off as well. I am giving her a lot of motrin which I think helps with the headaches.
On another note I am still trying to finish painting all the kitchen cabinets to get our place ready to sell. We would like to move eventually but are really struggling on where to. We love Maddie's workers but they only work in the town we live in. I am not super thrilled with living in Milton...and not convinced I love the schools. With that said, we really need to get a bigger place for the girls to have their own rooms. Maddie waking Paige up at night really does not help Paige at school....So we will be thinking about this...even though we are a long ways away from moving at this point.
Wednesday, February 3, 2010
Closure
Miss Madeline had an apt. today that I had been extremely anxious to attend...in fact I had asked her pediatrician if I could cancel it as I really did not think she needed it. He disagreed and wanted me to bring Maddie. This apt was with Dr. Bingum, who is a pediatric neurologist here in Burlington VT. There are only 2 practicing pediatric neuros in VT and they both are colleagues who work out of the same children's hospital portion at Fletcher Allen. The other neuro is Dr. K, the neuro Maddie saw in the beginning of all this who we had struggled with early on.
I was dreading this apt but also respect what her pediatrician had to say about the possibility of needing a neuro close by and to eventually not have to trek back and forth to Boston. My stomach was in knots when I was there and I don't even know what I was afraid of. I think all those unresolved emotions about our experience with Dr. K was getting the best of me. I also remember that time in our life as an extremely emotional time...we had no answers and knew something was wrong. I think that perhaps Dr. K may be a bit of a trigger in bringing back those feelings.
Anyway, the apt went SO WONDERFUL!!!! Dr. Bingum could sense my anxiety and asked just the right questions for me to be able to express what had happened with Dr. K without sounding unprofessional and nosey. He may have been manipulating me a bit to get me to talk, but it worked and he sounded extremely supportive. I finally started to breath when he said exactly what I wanted to hear..."invalidated"..."this is how your family must have felt after discussing the diagnosis with Dr. K. and I can see how that would really be disturbing to you all."
He nailed it...
After almost 6 months of pleading the neuro to take us seriously, and video taping every weird movement she made...I had known all along that something just wasn't right...and here it was clear as day on a picture of her brain...A small white circle and 2 white stripes...just in the right places to cause a whole lot of problems.
IF I could have only heard the words from her, "your Mommy instincts were right, something is wrong." We would all be in a much different place now. Instead she was clearly upset at Maddie's pediatrician for ordering the MRI when she said not to...and wanted to convince me that she was right by making it sound like this thing in her brain was like a damn splinter or something. She tried to make me feel guilty about agreeing for more testing. I knew she was wrong and could not trust her at that point. That appt. is what lead me to fear the worst...and it shouldn't have.
I do hope to someday put together a support group for parents who go through this. I have connected to so many parents who are still emailing me about issues they have with doctors for this same reason. It isn't fair for families to go through that...We have enough on our plates with dealing with the issues our children have.
OK- so I feel so good that it has all come out. I may not have told her directly, but I know the intent was for Dr. Bingum to find out for her...which is fine by me...She will know now and I hope it effects the way she works with other patients. I have the closure I needed.
As far as the appt...Maddie did pretty well...She had a bad headache this morning and her eyes are really bad today. They turned off the lights in the room and she was better.
He talked to me about how things were going and had some great incite on Maddie's situation. He actually agreed that Maddie will probably have a lot of weird neurological behaviors due to her cortical dysplasia and sensory issues and that people may suspect that she is having seizures when she isn't. He said he generally sees kids who have Cortical Dysplasia come in at the age of 4 or 5 with the seizures. He said by then we would certainly know if she was actually having seizures...It is harder to tell in babies because babies do weird things :) and Maddie does really weird things.
I asked if it was possible that she may never have seizures and he said it was possible.
I told him about the research I found on changes on the TSC1 gene being associated with a type of Cortical Dysplasia, and he actually knew about this! I was really impressed with this guy. He agreed that it is probable that Maddie ONLY has Cortical dysplasia and that may be the reason for the gene change. Oh I was psyched because this is what I was trying to convince myself after MY OWN research. Of course he understood that if Rob's test comes back negative for the same gene change that Maddie is likely to have a Mild case of TS and she would get tests on her kidney's and such if so....I am feeling in my heart that it is likely Cortical Dysplasia....I just am feeling that but we will see.
Either way, I left the appt feeling the way every parent should feel leaving a doctor's apt....Satisfied, supported, and comfortable with the information given to me.
Tomorrow is Maddie's team meeting to discuss how she is doing and her newest transition (in the next few months) to the toddler room...dun dun dunnnnnn. I think I will need more of a transition :)
I was dreading this apt but also respect what her pediatrician had to say about the possibility of needing a neuro close by and to eventually not have to trek back and forth to Boston. My stomach was in knots when I was there and I don't even know what I was afraid of. I think all those unresolved emotions about our experience with Dr. K was getting the best of me. I also remember that time in our life as an extremely emotional time...we had no answers and knew something was wrong. I think that perhaps Dr. K may be a bit of a trigger in bringing back those feelings.
Anyway, the apt went SO WONDERFUL!!!! Dr. Bingum could sense my anxiety and asked just the right questions for me to be able to express what had happened with Dr. K without sounding unprofessional and nosey. He may have been manipulating me a bit to get me to talk, but it worked and he sounded extremely supportive. I finally started to breath when he said exactly what I wanted to hear..."invalidated"..."this is how your family must have felt after discussing the diagnosis with Dr. K. and I can see how that would really be disturbing to you all."
He nailed it...
After almost 6 months of pleading the neuro to take us seriously, and video taping every weird movement she made...I had known all along that something just wasn't right...and here it was clear as day on a picture of her brain...A small white circle and 2 white stripes...just in the right places to cause a whole lot of problems.
IF I could have only heard the words from her, "your Mommy instincts were right, something is wrong." We would all be in a much different place now. Instead she was clearly upset at Maddie's pediatrician for ordering the MRI when she said not to...and wanted to convince me that she was right by making it sound like this thing in her brain was like a damn splinter or something. She tried to make me feel guilty about agreeing for more testing. I knew she was wrong and could not trust her at that point. That appt. is what lead me to fear the worst...and it shouldn't have.
I do hope to someday put together a support group for parents who go through this. I have connected to so many parents who are still emailing me about issues they have with doctors for this same reason. It isn't fair for families to go through that...We have enough on our plates with dealing with the issues our children have.
OK- so I feel so good that it has all come out. I may not have told her directly, but I know the intent was for Dr. Bingum to find out for her...which is fine by me...She will know now and I hope it effects the way she works with other patients. I have the closure I needed.
As far as the appt...Maddie did pretty well...She had a bad headache this morning and her eyes are really bad today. They turned off the lights in the room and she was better.
He talked to me about how things were going and had some great incite on Maddie's situation. He actually agreed that Maddie will probably have a lot of weird neurological behaviors due to her cortical dysplasia and sensory issues and that people may suspect that she is having seizures when she isn't. He said he generally sees kids who have Cortical Dysplasia come in at the age of 4 or 5 with the seizures. He said by then we would certainly know if she was actually having seizures...It is harder to tell in babies because babies do weird things :) and Maddie does really weird things.
I asked if it was possible that she may never have seizures and he said it was possible.
I told him about the research I found on changes on the TSC1 gene being associated with a type of Cortical Dysplasia, and he actually knew about this! I was really impressed with this guy. He agreed that it is probable that Maddie ONLY has Cortical dysplasia and that may be the reason for the gene change. Oh I was psyched because this is what I was trying to convince myself after MY OWN research. Of course he understood that if Rob's test comes back negative for the same gene change that Maddie is likely to have a Mild case of TS and she would get tests on her kidney's and such if so....I am feeling in my heart that it is likely Cortical Dysplasia....I just am feeling that but we will see.
Either way, I left the appt feeling the way every parent should feel leaving a doctor's apt....Satisfied, supported, and comfortable with the information given to me.
Tomorrow is Maddie's team meeting to discuss how she is doing and her newest transition (in the next few months) to the toddler room...dun dun dunnnnnn. I think I will need more of a transition :)
Thursday, January 28, 2010
Sigh....
* Do you think Maddie likes her new eye patch?
Ok, so this week we went to see Maddie's pediatric eye doctor. We found out that she has V pattern exotropia. This is not the answer just yet for her eyes so don't get too excited. I was initially excited at the fact that perhaps this was the cause to her eye rolling, blinking, photophobia, head aches, and even possibly the balance wobbly issues (ya I have high hopes.) I had asked Dr. Hastings if it was possible that it could be the cause to her problems. She didn't sound too promising but agreed that it MAY be a possibility. She said that MOST kids do not get head aches or have many issues at all with this type of strabismus (exotropia is a type of strabismus.) I explained to her that Maddie IS NOT like MOST kids and has a lot of sensory issues. I was trying to convince her that perhaps Maddie is extremely sensitive to EVERYTHING and maybe...just maybe she is really sensitive to this eye problem and it causes her these issues. She did say that Maddie is getting double vision when she looks up. ...So, how would you look if you had double vision and were VERY sensitive? It is a stretch but I am really hoping that it is sensory.
Dr. Hastings gave us some eye patches to try out. She will call in 2 weeks to see if there are any changes. So far it seems to help for about 30 seconds...then her eye goes out and she tilts her head to look with her eye outward. We will see how it goes.
Maddie is still having a good week. In the last few days she has said some words and that is very encouraging. I am not getting too excited however, as her pattern has been the same for as long as I can remember...good weeks, bad weeks, good weeks, bad...etc. So it is great and I am so happy she is saying a few words again, but I have learned to not get TOO excited just yet. She is saying Uh, Oh again and all du (all done) again. She stopped that for a while. She is also saying qua qua again! Super cute! I got a note from her therapist that she said Ball today! I have been working on this word with her forever.
I do think she knows I get frustrated and gives me a harder time (being stubborn) when I am working on her words. I think this is why I hear little words from her, and am surprised when I hear that she said certain words at school. I guess all kids give their parents a harder time.
Through this whole process with Maddie I have become very close with other parents who's children with some special needs as well. Today I received an email from a friend who is now at a point of acceptance that her child may need some extra support for some of his needs. She wanted to thank me (of all things) for for understanding her denial. She had finally agreed that it was time to ask for some help for her son at school.
I am going to post the response I had (w/out her name or his ;) because I am proud of the transformation I have made through this process. I too was in denial for a long time. I did not understand WHY Maddie was not learning. Why she hated to be touched or looked at, or cuddled. Every time she hit 1 month older I was so depressed at lack of progress. I didn't understand why nothing in the books worked...all the advice the doctors and other's gave...Nothing worked. She didn't sleep, she wouldn't eat, she hated life. I never stopped to think that it was actually ME who wasn't accepting that we couldn't go by the books...If Maddie needs to swing in her baby swing at 16 months old to calm down- so be it. If she can't hold a sippy cup because she fists her left hand we'll give her a straw. If she is obsessed with licking, we will give her ice pops and let her lick.
I have realized that MY control, MY way of teaching her is NEVER going to work...and in fact it was becoming a barrier for her. I needed to accept that. I have now and am proud of this. I now take Maddie's lead, and allow her to show me what SHE is ready for. I felt it was important to share this email response as I am sure ANY parent who has had a child with some special needs can relate to this important process.
Denial...
The process of Denial is a part of the process of Acceptance...
"and I mean accepting that your child is perfect in every way. Perfect does not mean the same for everyone but you know he is perfect that is all that matters. Every child learns/socializes differently and unfortunately society is set up to teach children to learn and socialize a specific way. Your child may need some extra help to do what other people decide is "normal"...But it is OK that your child has some differences in their learning style. That means nothing at the end of the day when he cuddles up to you and says, 'Mommy I love you.' So, you can deny that other people say he is 'special' or you can accept him as special and perfect.
The folks that will be working with him are not there to change him, but to help HIM to use HIS style of learning in a society that learns differently. They teach your child that society is different, not him...and they help give him (and you) the confidence to prove it to others by allowing him to learn in his own special way. The specialists are not only helping your child, they help to teach you and others working with him that your child learns THIS way and WE teach differently. So WE need to change the way WE teach...not visa versa.
I have only learned this through my experiences with Maddie. I have great respect for her workers.THEY have been the ones who have given me the ability to ACCEPT that Maddie is PERFECT and that I need to change the way I was teach her based on HER style of learning. I was/am the one who is different, not her.
*This was the reply email I sent to a friend today about my own experiences with denial.
"and I mean accepting that your child is perfect in every way. Perfect does not mean the same for everyone but you know he is perfect that is all that matters. Every child learns/socializes differently and unfortunately society is set up to teach children to learn and socialize a specific way. Your child may need some extra help to do what other people decide is "normal"...But it is OK that your child has some differences in their learning style. That means nothing at the end of the day when he cuddles up to you and says, 'Mommy I love you.' So, you can deny that other people say he is 'special' or you can accept him as special and perfect.
The folks that will be working with him are not there to change him, but to help HIM to use HIS style of learning in a society that learns differently. They teach your child that society is different, not him...and they help give him (and you) the confidence to prove it to others by allowing him to learn in his own special way. The specialists are not only helping your child, they help to teach you and others working with him that your child learns THIS way and WE teach differently. So WE need to change the way WE teach...not visa versa.
I have only learned this through my experiences with Maddie. I have great respect for her workers.THEY have been the ones who have given me the ability to ACCEPT that Maddie is PERFECT and that I need to change the way I was teach her based on HER style of learning. I was/am the one who is different, not her.
*This was the reply email I sent to a friend today about my own experiences with denial.
Sunday, January 24, 2010
Is it Possible?
Somehow my latest post dissapeared...It was long but I can not get it back. I will repost when I get some time soon. Here is a video of Maddie's eyes again. Shows that both eyes now go outward...
Here is a video of Maddie's eyes recently.
Here is a video of Maddie's eyes recently.
Sunday, January 17, 2010
Normal
* MY doctor sent my results but thought it was a good thing that the result was normal :)
So yesterday I received my Tuberous Sclerosis genetic test results...Normal...This, you would think would be a good thing...Unfortunately this means we are now a 50/50 on Maddie having TS because we are only waiting on Rob's test results. Remember, if his are normal like mine is, Maddie IS likely to have Tuberous Sclerosis. This is because it would not be considered a polymorphism but a spontaneous mutation. So...I am still not getting nervous as I am almost certain it must be from Rob as it would be so incredibly rare if it were a new mutation. That is how the geneticist explained it at least.
So normal is not a good thing in this case. We want one of us to have the same abnormality as Maddie's as this would mean it is benign...because neither Rob or I have any symptoms. I hope this makes sense.
We should receive Rob's results early February...I hope.
Other than all that Maddie's eyes are great again today!
Paige is going to be in Rob's cousin's wedding as a flower girl and we went to try on dresses today. She was so cute! I will update her pictures of her looking in the mirror. She kept saying, "This dwess is so cute!" and she would twirl around like a little princess. Paige goes back to the plastic surgeon tomorrow to check her scar. I think it is healing great so far.
Saturday, January 16, 2010
The fit...
*Paige showing Maddie how to stand on a stool
OK...So I have been in an ambulance twice in my life (that I know of) and both times have been with in the last 2 months! Our wonderful, sweet, lovable Madeline has figured out yet one more way to get what she wants.
The other day she was quite crabby and we were trying to make dinner, get drinks etc. Well she wanted to be held and walked around and I just did not have the time at that moment. I sat her down on the other side of the gate and said , "Well you are going to have to throw your fit, sorry Maddie." She cried and screamed and stood up crying. All of a sudden I did not hear her breath in and turned to see her turning purple. I knew she was going to fall but also knew I could not get to her in time. I was very calm as I watched her tip sideways stiff as a board. I heard her smack and then it happened. That is when I freaked...Maddie arched her back stiffly and turned completely blue with a few convulsions. She lunged forward and was convulsing and gargling. This lasted only about a minute and then she began screaming. We knew it was a seizure and had to get her checked. She was VERY tired after it happened and about an hour later after a ton of Tylenol at the hospital, she was completely fine.
Maddie had what is called a Breath Holding Spell/seizure. Ya- there is a name for this crazy behavior. It is not like real seizures as does not cause ANY brain damage. Her pediatrician said it will most likely happen again (and could happen frequently) and there is nothing you can do about it. He said, "have fun!".... He knows Maddie is quite the stink.
The doctors at the hospital could hardly touch her as she screamed if anyone even looked at her. She hates adults that she doesn't know and certainly does not want them touching her! The nurse came in to discharge us and stood on the other side of the room giving the discharge instructions while Maddie watched Dora as a distraction. My poor Mother-in Law (Debbie) came to bring her toys and Maddie would not even touch them until she was on the other side of the room. As soon as Debbie touched her water bowl, Maddie screamed and wanted nothing to do with it anymore. This has been the longest lasting phase that is really difficult to handle with Maddie. It gets really hard when we are in public places and someone says, "Oh, look how cute you are." and Maddie suddenly arches and screams. Or when she is crying and strangers think they are being helpful by saying, "What's the matter sweetie?" and Maddie freaks even more. It is so embarrassing to tell people that she is only crying because they are talking to her. Oh do I hope that passes soon.
Anyway she is fine- just clearly much smarter than we ever thought and can now get her way by holding her breath and having a seizure...
We had another scare just a few days before this as Maddie woke up and could not open her eyes for a few hours. She tried very hard but her lids just did not open. We put her down for a nap and when she woke up she could open them a little and then with in the hour was fine opening them with no problem at all. Something similar has happened once before at the beginning of her photophobia. I always tell her doctor but no one really knows why this is happening so there is nothing that can be done. Her eyes have been pretty good since then though...even after her head bonk and such. She is clearly back to good days and is loving it...for now.
We got a call yesterday that they want us to go back to the TSC clinic in Boston February 19th. This is earlier than we were supposed to go (at the end of March early April). I am hoping they will have our test results by then.
Ahhh...Until then I am going to pad my entire house with foam, lock all the doors, keep the dog away, and make 2 bubbles for my kids to live in...just for a few years...before the next drama in our life occurs :)
The other day she was quite crabby and we were trying to make dinner, get drinks etc. Well she wanted to be held and walked around and I just did not have the time at that moment. I sat her down on the other side of the gate and said , "Well you are going to have to throw your fit, sorry Maddie." She cried and screamed and stood up crying. All of a sudden I did not hear her breath in and turned to see her turning purple. I knew she was going to fall but also knew I could not get to her in time. I was very calm as I watched her tip sideways stiff as a board. I heard her smack and then it happened. That is when I freaked...Maddie arched her back stiffly and turned completely blue with a few convulsions. She lunged forward and was convulsing and gargling. This lasted only about a minute and then she began screaming. We knew it was a seizure and had to get her checked. She was VERY tired after it happened and about an hour later after a ton of Tylenol at the hospital, she was completely fine.
Maddie had what is called a Breath Holding Spell/seizure. Ya- there is a name for this crazy behavior. It is not like real seizures as does not cause ANY brain damage. Her pediatrician said it will most likely happen again (and could happen frequently) and there is nothing you can do about it. He said, "have fun!".... He knows Maddie is quite the stink.
The doctors at the hospital could hardly touch her as she screamed if anyone even looked at her. She hates adults that she doesn't know and certainly does not want them touching her! The nurse came in to discharge us and stood on the other side of the room giving the discharge instructions while Maddie watched Dora as a distraction. My poor Mother-in Law (Debbie) came to bring her toys and Maddie would not even touch them until she was on the other side of the room. As soon as Debbie touched her water bowl, Maddie screamed and wanted nothing to do with it anymore. This has been the longest lasting phase that is really difficult to handle with Maddie. It gets really hard when we are in public places and someone says, "Oh, look how cute you are." and Maddie suddenly arches and screams. Or when she is crying and strangers think they are being helpful by saying, "What's the matter sweetie?" and Maddie freaks even more. It is so embarrassing to tell people that she is only crying because they are talking to her. Oh do I hope that passes soon.
Anyway she is fine- just clearly much smarter than we ever thought and can now get her way by holding her breath and having a seizure...
We had another scare just a few days before this as Maddie woke up and could not open her eyes for a few hours. She tried very hard but her lids just did not open. We put her down for a nap and when she woke up she could open them a little and then with in the hour was fine opening them with no problem at all. Something similar has happened once before at the beginning of her photophobia. I always tell her doctor but no one really knows why this is happening so there is nothing that can be done. Her eyes have been pretty good since then though...even after her head bonk and such. She is clearly back to good days and is loving it...for now.
We got a call yesterday that they want us to go back to the TSC clinic in Boston February 19th. This is earlier than we were supposed to go (at the end of March early April). I am hoping they will have our test results by then.
Ahhh...Until then I am going to pad my entire house with foam, lock all the doors, keep the dog away, and make 2 bubbles for my kids to live in...just for a few years...before the next drama in our life occurs :)
Sunday, January 10, 2010
The Plague is here!
Maddie at I-Hop
So I knew it would happen...Maddie is obsessed with licking every floor or wall that she sees so I knew she would be getting sick again soon. We were a whopping 6 days of cold free. It started yesterday with that same whoop like cough she had before. No fever just a nasty cough that is only bad at night and naps. She just got over something very similar, and that took 3 weeks to get over! Worst part is she is bringing it back to Paige...Stop licking Maddie!!! I don't know how long this phase lasts but I hate it!
On a positive note, Maddie is really doing a super job with sign language. This child used to scream at the top of her lungs if you even tried to use sign language with her and now she is doing it so much! She can do signs for please, thank-you, more, milk, byebye, eat, yes and no. The yes is new and looks so cute! She is not quite initiating it or doing it until after she hears the word but she is getting there. She really is talking a lot...in her own language :) She acts as though she is reading a book and jibber jabbers away pointing at pictures.
I had Paige out with me the other day and she told this lady that she had a sister...The lady asked if she liked her sister and Paige said, " ya...but she is a stinker." It was really cute. Paige isn't kidding though...Maddie seems to love pushing buttons and trying to get into trouble. She is constantly hitting the dog or throwing things down the stairs, or playing in the dog water...anything to get in trouble. She is a STINKER!!!
I have met a few people on line who's children have this Episodic Ataxia 2. They watched Maddie's videos and said their kids looked similar in their episodes. Oddly enough one of the ladies that I have connected with from England has a daughter who had the same eye problems and muscle spasms Maddie had/has...and to make it even MORE ironic, her name is Sarah Jane also...just spelled differently.
I can not wait until we get an answer on the TSC 1 thing so we can either move on or have a focus. It drives me nuts to not have an actual name for her weirdness. My Mom calls them Maddieisms...She has always called her weird stuff that.
Maddie's eyes are good right now and I am hoping to get some good pics before they go bad again. If I get some I will post a few.
Thanks again for all the support!
On a positive note, Maddie is really doing a super job with sign language. This child used to scream at the top of her lungs if you even tried to use sign language with her and now she is doing it so much! She can do signs for please, thank-you, more, milk, byebye, eat, yes and no. The yes is new and looks so cute! She is not quite initiating it or doing it until after she hears the word but she is getting there. She really is talking a lot...in her own language :) She acts as though she is reading a book and jibber jabbers away pointing at pictures.
I had Paige out with me the other day and she told this lady that she had a sister...The lady asked if she liked her sister and Paige said, " ya...but she is a stinker." It was really cute. Paige isn't kidding though...Maddie seems to love pushing buttons and trying to get into trouble. She is constantly hitting the dog or throwing things down the stairs, or playing in the dog water...anything to get in trouble. She is a STINKER!!!
I have met a few people on line who's children have this Episodic Ataxia 2. They watched Maddie's videos and said their kids looked similar in their episodes. Oddly enough one of the ladies that I have connected with from England has a daughter who had the same eye problems and muscle spasms Maddie had/has...and to make it even MORE ironic, her name is Sarah Jane also...just spelled differently.
I can not wait until we get an answer on the TSC 1 thing so we can either move on or have a focus. It drives me nuts to not have an actual name for her weirdness. My Mom calls them Maddieisms...She has always called her weird stuff that.
Maddie's eyes are good right now and I am hoping to get some good pics before they go bad again. If I get some I will post a few.
Thanks again for all the support!
Tuesday, January 5, 2010
Faith...
*Maddie in waiting room yesterday
So....this is one reason I started this blog...the need to vent and share my frustrations along with Maddie's successes. Unfortunately, right now I am frustrated and find myself once again exhausted with information...or I could say lack there of. Ill explain:
First of all we had one hell of a day yesterday as we left for Boston at 3:15am due to my OCD issues and not wanting to sleep on dirty hotel sheets. Burlington got a record 32 inches of snow from this snow storm so I wanted to leave early and get there 1 hour early to get Maddie comfortable with the office since she freaks every time we go. Needless to say, it took over 6 hours to get there because of an accident 30 min out of Peabody and we missed the apt. Luckily Dr. Robbins said he would see Maddie during his lunch so I was relieved after such a long drive.
We waited in the waiting room for a few hours and Maddie was great! Besides licking every corner of the office, floor, walls, other people's coats, she really was super just playing. Her eyes were perfect with only a few episodes here and there of rolling and tearing. I really wanted Dr. Robbins to see her when she had good eyes as he has never seen them good...
Unfortunately as soon as she walked into his office, it was all over. She lost it once again...eyes were bad, rolling, blinking, not looking up. She was a nightmare and he was barely able to look at her. She wouldn't stand and it did not matter what I did. I even brought a lollipop as she never gets these and I thought for sure this would help divert her....nope. Anyway after her episode she almost fell asleep in her stroller so I could talk to the neurologist about some things.
Unfortunately answers we did not get...
First of all we had one hell of a day yesterday as we left for Boston at 3:15am due to my OCD issues and not wanting to sleep on dirty hotel sheets. Burlington got a record 32 inches of snow from this snow storm so I wanted to leave early and get there 1 hour early to get Maddie comfortable with the office since she freaks every time we go. Needless to say, it took over 6 hours to get there because of an accident 30 min out of Peabody and we missed the apt. Luckily Dr. Robbins said he would see Maddie during his lunch so I was relieved after such a long drive.
We waited in the waiting room for a few hours and Maddie was great! Besides licking every corner of the office, floor, walls, other people's coats, she really was super just playing. Her eyes were perfect with only a few episodes here and there of rolling and tearing. I really wanted Dr. Robbins to see her when she had good eyes as he has never seen them good...
Unfortunately as soon as she walked into his office, it was all over. She lost it once again...eyes were bad, rolling, blinking, not looking up. She was a nightmare and he was barely able to look at her. She wouldn't stand and it did not matter what I did. I even brought a lollipop as she never gets these and I thought for sure this would help divert her....nope. Anyway after her episode she almost fell asleep in her stroller so I could talk to the neurologist about some things.
Unfortunately answers we did not get...
Here is what may be a big possibility... Something called Episodic Ataxia type 2 with Paroxysmal Tonic Upgaze...These are 2 different things and can explain more in another post when I have a bit more energy...Bottom line, they don't just know...yet.
I kept hoping he would agree for a 2nd opinion for another pediatric eye doc...But he said he does not agree, and does not think it is an ocular problem but is neurological. He said that sometimes kids get random childhood tics that go away but he is fairly certain there is an underline reason for this and does not believe it is just benign...I found myself having those Ally Mcbeal moments where I jump out of my body, ring his neck and say, "Then figure out what it is already so you can fix it!!!!" I know it is not that simple. I just don't understand why no one has seen this before. He said he HAS seen something similar with diseases (very bad ones) that Maddie has been tested for and DOESN'T have...
I just find myself thinking that it could be as simple as an eye issue...I seriously feel like somehow an eye doctor would have to have seen this before...I guess I am really just hoping and have to have some faith that Maddie will grow up to be as healthy as her best friend and this will all be in the past one day. It just feels so far and these are the times I get so frustrated.
Another part that was rough for me was when I saw another little toddler who was 1 month younger than Maddie. Her doctor came out and sat down with her Mom and I could hear them discussing the toddler getting hearing aids. As the doc and mom were talking, Maddie was looking (and trying to lick) the little girl. The other toddler was pointing at Maddie and saying "baby" "baby" and pointed to the truck and said, "twuck"...Her mother said that the toddler says over 20 words despite her hearing problems! What is so frustrating is that I can not even get Maddie to REPEAT me saying the word ball...or truck...or baby...or...well here it is... I always get so excited about Maddie's progress and then I see her around another child her age and it all kind of kicks reality into gear. Don't get me wrong, Maddie has moved mountains in the last year and I would never say I wasn't proud of her for that. I just get really frustrated when I think about what she can not do...I shouldn't think like that but I do sometimes.
I am not that concerned about her language as she is still quite young. I just go through this frustration sometimes when I see other kids her age doing a lot more. And of course parents always like to brag about what their kids do...as do I...but I never realized how difficult it could be for the other parent to hear the bragging until now. Another life's lesson learned.
Maddie is so happy to be home, but by the time I picked her up from daycare today she had fallen apart and was a wreck. Getting back into routine after being on vacation has not proved to be easy for any of us!
I kept hoping he would agree for a 2nd opinion for another pediatric eye doc...But he said he does not agree, and does not think it is an ocular problem but is neurological. He said that sometimes kids get random childhood tics that go away but he is fairly certain there is an underline reason for this and does not believe it is just benign...I found myself having those Ally Mcbeal moments where I jump out of my body, ring his neck and say, "Then figure out what it is already so you can fix it!!!!" I know it is not that simple. I just don't understand why no one has seen this before. He said he HAS seen something similar with diseases (very bad ones) that Maddie has been tested for and DOESN'T have...
I just find myself thinking that it could be as simple as an eye issue...I seriously feel like somehow an eye doctor would have to have seen this before...I guess I am really just hoping and have to have some faith that Maddie will grow up to be as healthy as her best friend and this will all be in the past one day. It just feels so far and these are the times I get so frustrated.
Another part that was rough for me was when I saw another little toddler who was 1 month younger than Maddie. Her doctor came out and sat down with her Mom and I could hear them discussing the toddler getting hearing aids. As the doc and mom were talking, Maddie was looking (and trying to lick) the little girl. The other toddler was pointing at Maddie and saying "baby" "baby" and pointed to the truck and said, "twuck"...Her mother said that the toddler says over 20 words despite her hearing problems! What is so frustrating is that I can not even get Maddie to REPEAT me saying the word ball...or truck...or baby...or...well here it is... I always get so excited about Maddie's progress and then I see her around another child her age and it all kind of kicks reality into gear. Don't get me wrong, Maddie has moved mountains in the last year and I would never say I wasn't proud of her for that. I just get really frustrated when I think about what she can not do...I shouldn't think like that but I do sometimes.
I am not that concerned about her language as she is still quite young. I just go through this frustration sometimes when I see other kids her age doing a lot more. And of course parents always like to brag about what their kids do...as do I...but I never realized how difficult it could be for the other parent to hear the bragging until now. Another life's lesson learned.
Maddie is so happy to be home, but by the time I picked her up from daycare today she had fallen apart and was a wreck. Getting back into routine after being on vacation has not proved to be easy for any of us!
Saturday, January 2, 2010
Wiiiiiiiiiiiiiiiiii!!!!!
Hi there! hope everyone had a great New Year! Ours was pretty uneventful...which is a really good thing. Maddie is coming back from a rough week and her eyes seem to be getting better once again. The neurologist that we see on Monday has not seen Maddie when her eyes were good so I am glad they have gotten better.
On another note, after lots of bickering with Rob that I did not think it was good timing, I gave in and bought the Wii that he has been nagging at me about. I have to say as much as I do not want to admit it, it is not just a silly video game...I love the thing! Shhhh...don't tell Rob :) We have only had it for a few days and boy oh boy are we both sore! This thing gives you a great work out! The best part is that the kids like it too...Maddie especially! She is so funny as she tries to imitate us with the bowling and swinging her arms around...it is great! Paige gets into it a little but as soon as she can coordinate the remote, I am sure she will be more excited.
Maddie is doing super developmentally still. She is truly in toddlerville right now trying to do everything that we do or Paige does. She is going right up to Paige to give her hugs and kisses. Unfortunately with in 2 minutes is screaming and hitting her too...We have to work on that. She is LICKING EVERYTHING and it drives me nuts!!! I swear she will end up with the plague or something! She licks the floor, legs, shoes, walls...pretty much everything. I get so grossed out by this. I can not wait until this stage passes. So far in terms of speech, I think she is still struggling a bit but I know it is going to come. It is strange because she will not always say the word duck appropriately, continues to say Quack Quack if you ask what does a duck do (I am psyched that she continued to say this!) She is mumbling Mamama more often and I do love that. Still does not call Paige or the dog anything in particular though. So this is a work in progress...but since the Quack Quack, I see it coming very soon. She really is now understanding much of what we say...Even though it doesn't always process right away, she is getting it.
So I will let you all know how Monday goes. I know a lot of you have had trouble with the comment part and I do not know how to make it easier or fix it. However if you do have a question that doesn't post feel free to email me
On another note, after lots of bickering with Rob that I did not think it was good timing, I gave in and bought the Wii that he has been nagging at me about. I have to say as much as I do not want to admit it, it is not just a silly video game...I love the thing! Shhhh...don't tell Rob :) We have only had it for a few days and boy oh boy are we both sore! This thing gives you a great work out! The best part is that the kids like it too...Maddie especially! She is so funny as she tries to imitate us with the bowling and swinging her arms around...it is great! Paige gets into it a little but as soon as she can coordinate the remote, I am sure she will be more excited.
Maddie is doing super developmentally still. She is truly in toddlerville right now trying to do everything that we do or Paige does. She is going right up to Paige to give her hugs and kisses. Unfortunately with in 2 minutes is screaming and hitting her too...We have to work on that. She is LICKING EVERYTHING and it drives me nuts!!! I swear she will end up with the plague or something! She licks the floor, legs, shoes, walls...pretty much everything. I get so grossed out by this. I can not wait until this stage passes. So far in terms of speech, I think she is still struggling a bit but I know it is going to come. It is strange because she will not always say the word duck appropriately, continues to say Quack Quack if you ask what does a duck do (I am psyched that she continued to say this!) She is mumbling Mamama more often and I do love that. Still does not call Paige or the dog anything in particular though. So this is a work in progress...but since the Quack Quack, I see it coming very soon. She really is now understanding much of what we say...Even though it doesn't always process right away, she is getting it.
So I will let you all know how Monday goes. I know a lot of you have had trouble with the comment part and I do not know how to make it easier or fix it. However if you do have a question that doesn't post feel free to email me
Tuesday, December 29, 2009
Quack Quack...
Hi there! first I will say Christmas was great...sort of. We were all sick but stayed home from all festivities and danced around the house to Christmas music. We had Chinese food for Christmas and In laws brought left overs for later. The kids loved their gifts...Paige asked us if Santa had a car to drive to our house. We tried to explain to her that Santa has a sleigh and reindeer to fly in the sky...She looked at us like we were nuts and said, "I want to see it." She gave us the "yeah right" look as she said it...I couldn't help but laugh.
Maddie's eyes are horrible still. I will post a video of it so you can see some of what I am talking about. This video was from today and she is watching a TV show looking up. I wish I knew what she was having this problem because it just doesn't look right. We got a call from her neurologist in Peabody that they rescheduled her apt for the week earlier...so we will be going on Monday. I am hoping they may have some answers about her eyes for us.
So here is something I just needed to post...I heard the most beautiful set of words tonight...I was sitting with Maddie and showing her a duck. I randomly asked her what does a duck do...I swear she said, " Qua qua"! It was very quiet, under her breath, and she may not say this again for another 2 months...but it does not matter. She said it and that means she understands the question! I was almost tearing at the sound!!
I will end with this short post and video but will post some more soon...Hope you all have a great New Year!!!
Maddie's eyes are horrible still. I will post a video of it so you can see some of what I am talking about. This video was from today and she is watching a TV show looking up. I wish I knew what she was having this problem because it just doesn't look right. We got a call from her neurologist in Peabody that they rescheduled her apt for the week earlier...so we will be going on Monday. I am hoping they may have some answers about her eyes for us.
So here is something I just needed to post...I heard the most beautiful set of words tonight...I was sitting with Maddie and showing her a duck. I randomly asked her what does a duck do...I swear she said, " Qua qua"! It was very quiet, under her breath, and she may not say this again for another 2 months...but it does not matter. She said it and that means she understands the question! I was almost tearing at the sound!!
I will end with this short post and video but will post some more soon...Hope you all have a great New Year!!!
Friday, December 25, 2009
Wednesday, December 23, 2009
Ahhh! Christmas is Here!
I can not believe that we are only 2 days away!!! I think I am finished with my shopping but I guess we will find out on Christmas...I never realized how crazy shopping could be but I guess when you have 2 toddlers and both parents working full time, shopping is not anything like I remembered :)
I completed an official project that I am really proud of (I tend to start projects and have a hard time finishing them so I was really happy to have completed this one :)...I made these books for Maddie's therapists that had a ton of pictures I took of Maddie doing all the different things they helped her to achieve (Rolling, focusing, pulling up, holding her head up, etc...). It had little phrases to go with each picture...anyway they really liked them and I was happy to have finished them in time for Christmas. I am also happy to say that I actually mailed out Christmas cards this year!!! I still have many of the last few years worth of Christmas cards completely filled out and addressed...I just never had the time to mail them out. I am not sure how I found the time this year but I did it!
I am happy to say that even though Maddie has had a hell of a week with bad eyes she is still doing great walking! I brought her to a play group Tuesday and she did super! She really is a bubbly toddler! I think that her bubbliness really masks any delays she may have. She is absolutely loving Christmas music! She shakes her little bum like there is no tomorrow! It is super cute. It has been harder to get good pictures of the girls lately because of Maddie and her eye problems and of course Paige's dog bite. I took some the other day that came out pretty good. I will post a few when I get them on the computer.
I would like to say that Maddie is sleeping better but every time I do that she stops...so let's just say she has been nice to me in the last few days and leave it at that :) Maddie has officially been able to avoid going to her doctor (other than for the flu shot) for over a month! That is a record!!! She has even been sick with the croup for the last few weeks but no need for the docs as she is trucking through it just fine! She also has not had another ear infection since having tubes in months ago! We have our Boston visit January 11th and hopefully will be able to make it till then with no other apts :)
Paige is doing super too! She is quite the preschooler...I peaked through the window to watch her at daycare the other day and she was twirling around in her princess dress ups and high heels.
I bought she and Maddie the same green pea coat (they look super cute together when they wear them) and Paige loves to tell everyone that she has the same coat as her sister.
She is now sleeping through the night with no pull ups!!! I am so psyched to not have to buy pull ups or diapers for Paige! They are ridiculously expensive when you have 2 in them! At home with Maddie, I try and used the cloth diapers. We can not use them for daycare though and Rob hates them :) Either way less pull ups = more $ so I am happy!
As Christmas approaches, I do find myself missing the times we spent at Aunt Becky's house...With Grandpa in his Santa hat and Christmas sweater...Uncle Kim making sure the kids were not drinking alcohol in their soda glasses, Grandma bringing all of her make up samples, singing songs and opening presents with the family. Even the kids could help with the cooking, or spend time with the adults by the Christmas tree...I really miss the time we all spent together then. I remember everyone was always happy...It didn't matter what had gone on that day...or how many arguments were stirring before the party...When we were all together, it seemed like all those worries disappeared, and we were just happy being together as a family. I am so lucky to have had this experience because this is what I want for my kids to remember about Christmas. Christmas shouldn't be about who got what or how much you spent on a gift...It's about being together with the people you love the most and celebrating a miracle. I personally feel we have many miracles to celebrate this year and am very thankful for this.
So...that is it for now...hope you all have a great holiday!!!! And thanks again for all your support!!!
I completed an official project that I am really proud of (I tend to start projects and have a hard time finishing them so I was really happy to have completed this one :)...I made these books for Maddie's therapists that had a ton of pictures I took of Maddie doing all the different things they helped her to achieve (Rolling, focusing, pulling up, holding her head up, etc...). It had little phrases to go with each picture...anyway they really liked them and I was happy to have finished them in time for Christmas. I am also happy to say that I actually mailed out Christmas cards this year!!! I still have many of the last few years worth of Christmas cards completely filled out and addressed...I just never had the time to mail them out. I am not sure how I found the time this year but I did it!
I am happy to say that even though Maddie has had a hell of a week with bad eyes she is still doing great walking! I brought her to a play group Tuesday and she did super! She really is a bubbly toddler! I think that her bubbliness really masks any delays she may have. She is absolutely loving Christmas music! She shakes her little bum like there is no tomorrow! It is super cute. It has been harder to get good pictures of the girls lately because of Maddie and her eye problems and of course Paige's dog bite. I took some the other day that came out pretty good. I will post a few when I get them on the computer.
I would like to say that Maddie is sleeping better but every time I do that she stops...so let's just say she has been nice to me in the last few days and leave it at that :) Maddie has officially been able to avoid going to her doctor (other than for the flu shot) for over a month! That is a record!!! She has even been sick with the croup for the last few weeks but no need for the docs as she is trucking through it just fine! She also has not had another ear infection since having tubes in months ago! We have our Boston visit January 11th and hopefully will be able to make it till then with no other apts :)
Paige is doing super too! She is quite the preschooler...I peaked through the window to watch her at daycare the other day and she was twirling around in her princess dress ups and high heels.
I bought she and Maddie the same green pea coat (they look super cute together when they wear them) and Paige loves to tell everyone that she has the same coat as her sister.
She is now sleeping through the night with no pull ups!!! I am so psyched to not have to buy pull ups or diapers for Paige! They are ridiculously expensive when you have 2 in them! At home with Maddie, I try and used the cloth diapers. We can not use them for daycare though and Rob hates them :) Either way less pull ups = more $ so I am happy!
As Christmas approaches, I do find myself missing the times we spent at Aunt Becky's house...With Grandpa in his Santa hat and Christmas sweater...Uncle Kim making sure the kids were not drinking alcohol in their soda glasses, Grandma bringing all of her make up samples, singing songs and opening presents with the family. Even the kids could help with the cooking, or spend time with the adults by the Christmas tree...I really miss the time we all spent together then. I remember everyone was always happy...It didn't matter what had gone on that day...or how many arguments were stirring before the party...When we were all together, it seemed like all those worries disappeared, and we were just happy being together as a family. I am so lucky to have had this experience because this is what I want for my kids to remember about Christmas. Christmas shouldn't be about who got what or how much you spent on a gift...It's about being together with the people you love the most and celebrating a miracle. I personally feel we have many miracles to celebrate this year and am very thankful for this.
So...that is it for now...hope you all have a great holiday!!!! And thanks again for all your support!!!
Friday, December 18, 2009
Visit with Santa...
Ok..Ok...So not the best picture with Santa...Maddie's eyes were bad this day and Paige insisted she HAD to wear Maddie's sunglasses. But you know what??? Santa held Maddie for 15 whole seconds without Maddie throwing a fit! Just long enough to get a picture :) So it may not be the perfect picture, but it certainly shows a picture of our reality :)
Maddie continues to do well developmentally. She is still having "bad days"...but they don't seem to last into "bad weeks" like they used to.
I am going to start taking Maddie to a play group on Tuesday's. They have some tumble equipment and mats to work on strengthening her arms. One of her therapists had mentioned that she brought Maddie into another room at daycare to do some work on the tumble climbing equipment. She said that Maddie really liked this and so they are going to try this with her. We have these same climbing mat equipment at a playgroup that a coworker runs for work. She brings her 2 year old son and 1 year old niece. I think it would really help Maddie.
So I have officially been given the "talk" by daycare...you know, the "your child is hitting other kids" talk...Really??? My sweat little do nothing wrong ever Maddie??? I have to say
I wasn't surprised. Although, Maddie is actually our first experience with this (hitting) as Paige never had this behavior...
I wasn't surprised. Although, Maddie is actually our first experience with this (hitting) as Paige never had this behavior...
Initially I was thinking this was great! This is an age appropriate behavior for the average 1 year old...so she is really catching up! But I guess another parent who saw her hit their baby thought it was not so great. She really isn't hitting to be mean, she looks around and laughs and is actually really "petting" the other babies....OK maybe not really petting but she really isn't violent. We are constantly repeating, "gentle Maddie" and "no thank-you"...It is really hard to come up with a consistent consequence for a toddler who is too immature to understand that consequences are not funny... At school they try "time outs"...and she thinks this is fun... in fact when her friends get time outs, she walks over to them with her blankie and sits down next to them.
Time out seems to work for all the other 15 month olds...but not Maddie...who would have guessed right!?
Maddie has had a few episodes but still not nearly as many as she used to when she was crawling...A week or so ago, we were in a store and Maddie was literally flopping around on the floor. I was at a kids store and she was on carpet so I let her do it w/out picking her up. She wasn't crying this time so I just let her go. Other people were commenting how funny she was flip flopping with her eyes closed and thought she was just really tired...Yesterday at daycare she managed to have one and remain standing (although drunken baby like) and was walking into walls with her eyes closed. I swear, if we hadn't gone through all the testing we have gone through in the last months this stuff would make me a basket case of nerves. But we all know, despite her weird problems, she is still progressing developmentally and that is really the main focus besides her physical health. We go back to Boston Children's in just a few more weeks and look forward to hearing what their thoughts are now that she is walking. I have gone for my blood testing but the results won't be in for 5-6 weeks. Rob will go January 1st when he will officially be under my insurance...which is much better than his.
Life at our house has settled since the craziness we have had in the last month. We are excited for Christmas because Paige really seems to understand that Santa brings presents. I have realized in my Christmas shopping this year, that I have become "that Mom" I swore I would never become...The "character" Mom.
I swore no child of mine would ever wear that stupid Disney shirt, the flashing Dora shoes, or have that tacky princess backpack...However I apparently have found my weakness... A 3 year old's, "But Mommy I want one," seems to have convinced me to be that tacky Mom after all...well at least at home in private :) So needless to say, Paige will have her Dora PJ's, blankets and coloring books for Christmas and we will all be happy :)
Next week will be crazy...I work for 3 days and then I am off for about 1 1/2 weeks with both the girls:) I hope to do 1 more update before Christmas. Hope you are all done with your shopping! Christmas is next week already!!!
Here is a little something Maddie would like to show...
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