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!
Sunday, March 28, 2010
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.
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