Diagnosis-2q23.1 Microdeletion Syndrome
Our daughter, Amelia, is 2 years old. She was born full term (39 weeks) in November 2011. She weighed 7 lbs 1 oz and was 19 inches long. She’s the youngest of 5 healthy children. Amelia was jaundice as a newborn (requiring a week under the bili light at home) and was believed to have laryngomalacia as well (she “chirped” when she nursed and would gag like she was having difficulty breathing at times as well).
At 2 months she had her first and only round of baby vaccines. Directly following that her eyes started tracking non-stop and she went blind. Over the course of several months, her eyes quit tracking and would then rest for long periods of time gazing off to the right. She spent several months after that teaching herself to use what vision she had. Ophthalmology prescribed glasses for her to help align her eyes and correct her vision. She still can’t look directly at anything. It’s always to the right of whatever she’s looking at. Distance vision is a problem for her as well. Things near to her she seems to do well enough with but when she’s gazing at something several feet away, her eyes are dancing all over. We see ophthalmology every 6 months but were told at the last two visits that they’ve done all they can do for her. She has a perfectly formed set of eyes, veins, etc so glasses will not help and surgery isn’t an option as it’s not something they can correct. It’s just something that will always be. We will be seeing a vision specialist early next year for a functional vision test to find out what she can and can’t see and what we can do to help her with that.
At about 8 months old, she started with shuttering, shaking, and staring episodes. They started slow and within a couple of months they were happening easily 100 times a day. She takes on with spells like that for about a week every month. They do happen every day but they are only constant for about a week every month. Amelia has gone 2-3 months (twice) without spells but they always come back. 4 seperate EEGs, 2 MRIs, and a handful of neurology visits ruled out epileptic activity and any brain malformations. We still don’t know what’s triggering her episodes.
Amelia has had her baby babble come and go. That’s another thing that seems to come in waves for her. She’ll get to where she’s building up mama, dada, baba…and then she’s silent for weeks. We’ve seen the speech come back as jibberish (diggle, diggle, diggle) and stop again as well. It always goes away before it gets a chance to build up to anything. However, she has A LOT to say. She moans and groans a lot and knows and uses about 30 different signs regularly to get her point across. The speech comes and goes but the signing only improves. So the cognition is there she just can’t seem to let it out. She has been taking to screaming fits if she thinks she’s being misunderstood. I think there are just so many more words inside of her than she can communicate and it’s very frustrating for her.
Another thing: as an infant she never cried. Ever. She would hum instead. She’s seen audiology and seems to hear quite well so I’m not sure exactly why that would be.
Balance is another issue. She hit all her milestones…rolling, sitting, crawling, within a normal time frame but took 20 months to get herself up and off the floor. When she did finally walk, she took on with a typical ataxia gait (ankle rolling and waddle walking). She can now walk a fairly normal walk when she’s focusing on what she’s doing and can run with the big kids with a wide, waddle run. She still falls often and dizzies very easily though.
Amelia has a very high threshold for pain and regularly teeths on her fingers. I’ve only seen her draw blood once (from nibbling on her wrist), but it’s concerning. She also seems to have no reaction to taste (although this is improving slowly) and up until very recently had an extreme reaction to hot and cold. For instance, something that may be hot (but not excessive) would cause her a great deal of pain.
After speaking with MANY specialists at 2 different hospitals (Geisinger and The Children’s Hospital of Philadelphia), being passed from one departement to another, and a VERY long wait (nearly a year) to speak with genetics, it was decided after a microarray blood test that our sweet Amelia has 2Q23.1 microdeletion syndrome. So that explains her quirks. I do fully believe that the dramatic onset of symptoms was brought on by the vaccines. I think her little body was already heavily taxed and it over loaded her system in a big way. I think if we had foregone the vaccines we would have noticed much later that there was an issue. But it’s hard to say.
Anyway, so that’s our sweet Amelia. It’s been a long frustraiting journey trying to get her figured out. I don’t believe we’ll ever really know what goes on inside of her or why but the diagnosis is a good starting point. Now that we’re done searching for the problem we can finally pull all of our resources together to help make her well. Finally.