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!!!

Best Pictures I could get of the girls with Maddie's eyes not doing well this week and Paige's lip....But they are still the most beautiful girls I have ever seen!!!

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!!!

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...

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...

Taking a breather...

So first I want to thank everyone for their comments. I do not know how to respond to each direct comment so I will write it in this blog. It is a really great feeling to have such a supportive family...and friends. We really appreciate you all connecting with us!

Now, Paige....She is doing super! Her face swelling has gone down dramatically!!! The surgeon did an amazing job and I can not wait to see it fully once the scabs fall off. He aligned her lip back perfectly! We went for a follow up apt and they said she is healing beautifully. She is still on antibiotics for a few more days but she is healing very fast! The plastic surgeon gave us suggestions for treating the scar and she will go back to see him in about 5 weeks. I will post a picture of her progress. She again, is the strongest child I have ever seen...still have not heard her once complain of ANY pain!!! Now, if we could only handle preschool...Paige went back to school on Thursday last week for the first time since the incident. She came home that day and told us that a few kids told her she had "poop on my lip." Rob jumps up and wants to know who said it to her so he can, "take care of it." He needed to be reminded that these kids are 3 and 4...It was sweet how protective he became....but he also needs to know this is only preschool and we have a long road ahead! He said he will just start teaching her some really good come backs instead....I am not sure which one is worse :)

Maddie continues to do well walking. While today I was debating the idea of dropping her at the neighbors doorstep in a basket with a pretty bow , before today she had been doing great. She really is acting more toddler like! I asked her to go get her coat without even pointing and she got it!!! This may not sound too big of a deal but for Maddie it is. She has made some HUGE gains in understanding what I am saying. I talked with one of her therapists last week about how to continue to strengthen her arms now that she is no longer crawling. Maddie is weaker in her arms and trunk so I would like to keep up with strengthening this area as she is no longer using a lot of these muscles. In fact Maddie has terrible posture. She sits at the end of her tailbone and slouches over not really holding her shoulders or chest up well for any length of time. She will certainly be hearing the same line my mother told me over and over again as a kid..."Put your shoulders back!"
Since Maddie started walking, I really think a lot of pressure from her eyes/face has been relieved because she is no longer in that position (head down from crawling.) I really do think this may be a piece of the puzzle as she started having photophobia right after she started crawling. She does still have bad days (clearly after today), however they have been fewer than when she was crawling.

I will update more again soon. I am exhausted and need to get some sleep...Maddie's sleep has sucked lately!

Seriously????

As if our life isn't already crazy enough, our little Paige had quite the end to her weekend. Sunday night we were all playing in the girl's room when Paige walked in with a chip. Rob and I told her she needed to eat her chip in the kitchen and not her room. Paige ran out of the room with the chip half in her mouth. Well the dog must have assumed the chip was for her and went to grab it and bit Paige in the face...bad.

An ambulance trip and plastic surgeon later, Paige is looking better. Her lip is really swollen but looks so much better than it did. She will go back tomorrow w/ Rob to the plastic surgery place for them to finish and check the progress. I think it is healing just perfectly...they did a very good job sewing it up. I have also realized that Paige is the toughest of all of us. After all the screaming and crying her Daddy and I did when we saw her, Paige calmed down before we did. In the ambulance she looked up at me with her lip hanging (1/2 of her top left lip), she said, "Can I just have a band aid and go home?" ...Oh did I just want to squeeze her when she said that. At the hospital they gave her morphine for her pain and she got really goofy and funny. I guess I can say that I saw my daughter's first official high! She really liked that medicine!

So the dog...Rajah...My first words were, "She is gone!!! Get rid of her!"... I was so angry and could not believe our always sweat dog could do this. Of course after all this, reality hit that this was not Paige's fault, or Rajah's...This was our fault as parents. Maddie was giving the dog food all night. It just was a freak accident that should not have ever happened. While apart of me hates the dog for doing what she did, the other part of me hates myself for not being smart enough to realize that it could happen. We have since stopped allowing the kids to feed the dog and Rajah goes into our bedroom whenever we are eating. We brought Rajah to the vet and discussed what we should do. The vet gave us those suggestions and agreed that it would not be a good idea to get rid of her. She said it did not seem like an aversion to kids that some dogs have but more of a territorial around food. For this reason no food and dog at the same time.

Paige really does love our dog and I am not sure how fair it would be to her to get rid of her either. We really just need to be much more vigilant as parents and that is the bottom line.

Weird thing is, with Maddie finally walking, I have been almost anticipating a really big accident from her because of her weak wobbly stuff. Or even a dislocation as she is so extremely flexible...I certainly was not expecting this for Paige as our first family emergency.

I have to say, she certainly is one tough cookie! She had her 3 year check up today and is perfect developmentally. Her doc noticed she was a little shaky in the hands and asked for a urine sample to check her sugar level. She said she would get back to us on this one. She also said Paige was knock knees pretty bad and may have knee trouble in her future. I thought it was pretty normal to have knock knees at this age so I never thought it was a big deal.

So there it is...our week in a nutshell. Again, somehow, God has mistakenly thought we had a really boring life and decided to throw just one more thing our way. We handled it well for being our first emergency and Paige is a trooper.

Maddie is also doing really well. She had about 4 bad days and now seems to be back to good! That was a really short "bad day" period for her. I really think walking is better than crawling for her. We are just really glad she seems to be flying in her development despite her bad days. She is still not really loving sleep, but I guess we will take anything we can get from her :)

Interesting research...

So today we got the letter from Boston..."To the parents of Madeline Ploof,...as our discussion Madeline has had a one letter change on the TSC1 gene"...so on and so forth. The letter came with the lab slips to go get tested.
So doing some research after getting the info, I was reading about familial and somatic changes on this gene and what it could mean if she were not to have TSC...because remember if it comes back familial it would most likely not cause TSC because neither Rob or I have symptoms. I read on this site (listed below) that a change on this gene that is Familial has been linked to causing Focal Cortical Dysplasia (which we know Maddie has) of Taylor type. So even if after being tested for this it comes back as a benign gene change for TSC, it certainly could be the genetic link to why she has Cortical Dysplasia. I am not a doctor but from what I am reading it sounds logical. In case there are any research nerds out there like me, here is the link...
http://ghr.nlm.nih.gov/gene=tsc1

On another note yesterday was quite eventful. I was hit from behind from a teenager on the highway. Very little damage is visible on my car as his car went under mine...so I think I may need a new bumper and muffler. His car was certainly totalled. Either way insurance says I need 2 more car seats so the fun begins for the search for 2 fancy shmancy car seats! And no kids were in the car. I was fine...bumped my head on the steering wheel as I was looking at the car in front of me...it was kinda funny....I am hoping for a BMW for a rental car....You think it'll happen?

Miss Madeline is walking like a pro. She loves to walk!!! She has had a rough couple of days but it is not holding her back at all. She loves her sister Paige so much! Every morning Maddie wakes up and we go into their room. Paige asks Maddie to come and cuddle her. It is so sweet! Maddie crawls right up on Paige's bed and they snuggle and giggle and roll around. I tried to jump in with them the other day and Paige says, "No Mommy, I want to snuggle with MADDIE."

Can not believe Christmas is only weeks away and we have yet to have a real snow yet! The propane guy came to fill our tank (for heat) and he could only fill it 10 gallons! that is all we have used and we are in December!!! That is crazy!

My little show off!!!

So today was, in a way, a big appointment for Maddie. She had an apt at the Child Development Clinic which is a program for children with special needs to be evaluated by a few different specialist and to have ongoing support. Maddie had a developmental assessment in all areas. She is still having a good week so this was a great time to get a baseline of development. She was incredibly social and goofy. She really was engaging with the specialists and participated in playing with them. Maddie scored AT age appropriate levels for a lot of areas!!! She really did well in doing things I didn't even think she would do like putting little pegs into little holes! What was interesting was that she even scored at level for motor skills despite her weakness in her arms and trunk...they said it was because she was doing other things like walking now.

There was one area she tested at 10 months level and I think it was auditory processing....I can not remember, and a few at 12 months...but the rest were right on target (14 months)!!! She really performed well. She did not have any big melt downs (besides when being touched by them) and showed them her great walking abilities. She has made HUGE progress in the last few months despite her "bad days/weeks". She seems to be doing a great job catching up. The specialist said that while it was clear that Maddie has some "difficulties" and problem areas, she seems to compensate and achieve her goal by doing something else that she CAN do. Which shows she has a real persistent personality...Just like her Mama :)

We have really been lucky getting the support from her great therapists and team here. She has come such a long way in just the short time she started getting therapy. I talked to her physical therapist today who said that we could even start doing 1 every other week therapy instead of 1 a week! This is a very good sign that Maddie is progressing very quickly! She was very impressed with Maddie's progress and said she didn't think Maddie was going to be walking until MAYBE Christmas...neither did I!

So, you will notice soon enough that when Maddie's bad weeks come, my tone will sound much less enthusiastic. I seem to still get nervous when she goes through these "bad" weeks even though I know that it will end soon. I wish I knew what it was that was causing her to have the bad weeks/ episodes. Sometimes when it happens I go a little crazy worrying that she may not snap out of it...but she always does eventually.

And here it is, the best part of the blog...

Last night I got to sleep!!!! Maddie only woke up....are you ready for this??? twice!!!!!!! Ahhhhh...felt so good to wake up and not want to strangle anyone who looked at me. Thank-you Maddie!

Maddie

Paige...kinda looks like she is about to sneeze


This is my friend Stacia, who goes with Maddie and I to Boston Children's. Best city driver you will ever find...for a Vermonter:)

This is Maddie taking some of her first steps in Boston...She walking on the "Stay off the grass" grass...oops

Walking!

It is official...she is a walker! I never thought it would be this soon! Just 3 months ago she learned to crawl! She is doing so well and looks very funny with her legs bowed and teetering her weight side to side :) She is really enjoying this new adventure.

We got our Christmas tree today and decorated it so nicely...We had saved just enough bulbs from last year. It really was perfect until the thing randomly fell down breaking some of the bubs...I guess we need to by some new ones now. Paige really likes the lights and Christmas music. I thought Maddie would really like the lights but her eyes were not so great today so I don't think she was too into them. This is the time of year that I really enjoy. I have great memories of all of us at Hosea House.... and then to Aunt Gail's for a yummy Thanksgiving dinner and to celebrate Grandma's birthday. We would all sing Christmas music and laugh like crazy. Grandpa would take his prickly cheeks and give us all raspberries...and although you really wanted to cry because it hurt so bad, you couldn't help but laugh until you peed. I still occasionally smell something cooking and it brings me back to this time. I sure do miss us all together.

We had a great quiet Thanksgiving here. I cooked and didn't even use the microwave! I think I really impressed Rob! The food was great and the left overs are already gone!

Maddie has had a really good week so far. She goes through good weeks and bad and I am hoping this good one lasts longer than usual. We could use the break as her last "bad week" lasted over 2 weeks. I give her Motrin because I am pretty sure her pediatrician thinks she is having migraines. I think this is why he thinks she is photophobic...but not sure. Her tone has been very good in the last week as well. Very few "episodes" of weakness-she has this episodic weakness randomly sometimes. At first I thought it was her throwing a fit and wanting to just cry into my lap or blanket. Then one of her therapists suggested that I put her away from me when she started a "fit" and see if she could get up...They were right...she couldn't. She has these a lot during her bad weeks.

So even though she has had a great week so far, her sleeping (or lack of) unfortunately is back to making me crazy! I really try everything. Tonight I thought maybe, just maybe her throwing up when I let her cry was something of the past so I tried yet again the freeking Ferberizing Method. She made it 3 minutes and then projectile vomited across her room....yummy.
So, this is still a work in progress. We still have to use the baby swing to calm her...I know she is probably way too old at 14 months for this but whatever works is the method we have decided to take with Maddie. Otherwise we would be even more insane than we already are.

So that is is for the weekend. I hope this works for everyone. Make sure to click the follow this blog section on the left of the blog and set up a profile. This way if you have any questions you can ask right through the blog. I will continue to update often!

ARRRRRRRRrr Maddie

Here is Maddie in one of her Halloween costumes...Her eyes were not great this day but fit right with her pirate costume :)

To our family!!!

11/26/2009

We have finally decided to start this blog for all of you as I know you have all been wondering how things are going with Maddie's health. With both the girls running around, it is hard to make the phone calls that we should be making so this should help. I can give everyone updates as we get them and be able to share our successes with you all. I can also try to explain some of the complex things Maddie has. I am excited to be in touch with you all and thank-you all so much for all your kind thoughts, cards, and prayers.

Maddie and Paige have grown so much in the last months it is crazy! Maddie turned 1 in September and Paige 3 in November! Time really flies!

So just a recap of where we have been thus far...Here comes the long part so don't start this if you are really tired!
Maddie was tested at 7 months old for developmental problems. She scored at around a 3 month level of developement in every level. They call it globally delayed. Around this same time her head showed to have gotten really big really fast (macrocephally). She also seemed to be a bit "floppy" (hypotonia)...and then she started having these weird spastic arm movements. This was the beginning of the video taping. I showed docs the pediatrician on call the video and they thought she was having seizures...Well long story short, after a night of tests and evaluations, Maddie was not having seizures. She had an eeg and MRI. EEG normal...The MRI showed something called benign Hydrocephalus...Sounds worse than it is- This is actually too much fluid OUTSIDE the brain. It is supposed to cause little to no problems and completely resolve by 3-4 years old. This was great news...we thought. However, Maddie continued to have problems and we did not understand why she was still having so many problems if it was only supposed to be minimal. We begged the neurologist in Vermont to take us seriously and tell us why she was struggling so hard. This neuro is known for her sit back approach and really wanted to do the wait and see thing...which I was fine with at first. Maddie continued to have bizarre spastic movements and then stiffening episodes.

She really struggled with eating bottles from people and frequently needed to be fed while laying on the floor or couch. She did not like to be held or cuddled much at all. At 10 months a light bulb went off and she started doing things. She started crawling and enjoying people. Her milestones just started coming one after another in like 2 weeks! I felt good and started feeling better about the wait and see approach.

Then at 11.5 months something bizarre happened. It was a Saturday morning and Maddie woke up a bit crabby. I put her right in her highchair and got her breakfast. I noticed she was not looking up and was rubbing her face a lot. I gave her a waffle and watched her eat the whole thing with her eyes closed. She was acting blind or something...feeling around for her food. It took about 3 hours for her eyes to really open. I noticed after that, every time I put her down to change her diaper she closed her eyes...like a baby doll with those eyes that open and close to the position change. She was doing the same thing. I knew something was wrong. Went to the peds twice that weekend. She is severely photophobic (fear of light.)They called Maddie's neuro and asked if she should go in for testing right away. The neuro said no and that she thought it was just a virus. I knew it wasn't. The pediatrician ordered an MRI that Tuesday against what the neuro wanted.

This was the day we learned Maddie had more than just benign Hydrocephalus.
After the MRI we had to go right to the opthamologist to have her eyes checked. The opto needed a copy of the MRI findings (we had not gotten them yet.) The hospital faxed them over and there it was...Cortical Dysplasia in the right Cingulate Gyrus with signal abnormality in the corpus callosum....We now know the abnormalities are called heterotopias... I did not know what this was so I called someone I knew and had them google it while I was waiting in the office at the opto.

A quick lesson on Cortical Dysplasia...The best way to describe it is this:
When an embryo is starting to develop the center of the brain begins to develop and create cells and nerons...These start out in the middle of the brain and eventually make their way (or migrate) to the appropriate place in your brain. In Cortical Dysplasia and heterotopias, the cells basically get stuck and don't make it to their appropriate place in the brain. Because of this, the normal matter builds up in that area creating a dysplasia. Because this dysplasia disrupts the normal activity of the brain, it affects the functions a person has that normally utilizes that part of the brain. It is also one of the common causes of childhood epilepsy and frequently causes seizures.

Later in the week Maddie's pediatrician explained it all to me. He was clear and honest. He explained that we now had more of an understanding as to why Maddie has had to struggle so hard thus far. He also suggested that Maddie have a 24 hour eeg to rule out seizures. We went to the Vermont neuro for the last time that same week.

She seemed ticked off that the pediatrician ordered the MRI against her wishes. She even asked me if it was Dr. Dimichele who ordered it and shook her head when I told her he did...It was so inappropriate! She completely contradicted what the pediatrician said and tried to talk us out of having the eeg. I stood my ground stating that I did not want to wait a year to find out that she is having them. She agreed reluctantly and I was pissed that she made me feel like a horrible
mom for wanting the test. This was the day I knew it was time to get some help somewhere else.

Thanks to my Mom and her great neighbor and sister, Maddie is now being seen by 2 neurologists in Boston at Children's Hospital. They have been amazing! They sent us directly for genetic testing and to the Tuberous Sclerosis Clinic for further testing. We then were scheduled for a 3rd eeg there in Boston after the 2nd came back normal.

We have since received ALL the test results...Everything was normal including the eeg except for the Tuberous Sclerosis test. The result that she got for this test is very complicated to explain so I wont go into too much detail...She tested positive for having a "variant of unknown significance in the TSC1 gene"...So, basically without boring you all with the nitty gritty, this means that Rob and I have to get tested for this same gene mutation. If either of us have the same mutation she DOES NOT have TSC because this is called a polymorphism...which is nothing...If neither of us have the same gene reading on this gene, than she has a variant of the mutation gene that causes Tuberous Sclerosis Complex.
TSC causes benign tumors to grow throughout the body. It can be really bad or not so bad. Thus far if this is what Maddie has, it would be considered relatively mild compared to other cases.

So, if you are still reading this and are awake at this point, this is where we are now. We are waiting for the tests to be mailed to us so we can go get tested.

Do you feel like you could get your medical degree yet? I know with all the Googleness I have been doing, I sure could :)

Maddie is doing great right now. We have good days and bad with her eyes. She is starting to learn to walk already at 14 months old! We thought this would be much later! She finally says her first words...All du (all done.) She also is much more cuddly and actually has let me hold her to sleep a few times recently. Sleep is a love hate relationship still. Some nights are great and others she could be up over 20 times a night. I will update with pictures too.

Paige is great too! She is really doing well despite the craziness with Maddie. Rob is hanging in there and really doing well taking in the info. He is very supportive and too loves watching Maddie overcome the obstacles that has thus far.

So this is a start...this one was very long so I could catch everyone up. Hope it wasn't too boring.
Today is Thanksgiving and I am so very thankful for what God has given me no matter how difficult it may be. Happy Thanksgiving!