2q23.1 Microdeletion Syndrome – Amelia’s Story

Our daughter Amelia was diagnosed in 2013 with a very rare genetic disorder called 2q23.1 microdeletion syndrome. She’s one of about 250 people worldwide known to have this disorder. 

Our sweet Amelia was born, full term (at 39 weeks) in November 2011. She’s the youngest of five, healthy children. Amelia was jaundice as a newborn (requiring a week under the bili light) and was clinically diagnosed with laryngomalacia as she would “chirp” when she nursed and would have difficulty breathing at times as well.

 At two months, she had her first and only round of baby vaccines. Within days she had lost her vision and her ability to cry and babble. For a long time, she was a shell of the sweet baby she was. The blindness did subside and she was left with only her peripheral vision and a set of eyeballs that would rest in the right corners of her eyes for extended periods of time. She was prescribed eyeglasses for a year and a half to help realign her eyes. At the end of those 18 months, we were told her remaining vision troubles were a wiring problem and neither glasses nor surgery could help her.  It was just one of those things that would always be.

She was diagnosed with 2q23.1 a month later. We found a support group shortly after that who referred us to an ophthalmologist in Washington, DC who specializes in rare, genetic disorders. He’s been working with her and she’s since made amazing progress! Our little girl that fell every two steps she took learned to walk with purpose and to run and jump. It’s amazing what caring doctors and proper treatment can do.

At 8 months old she started with shuttering, shaking, and staring episodes. She’s had periods where she would shake/seize hundreds of times a day. She is still troubled with daily episodes but they are less frequent and seem to be most problematic for her when she’s overly tired, her eyeglass prescription needs to be updated, or she’s struggling with sensory overload. We are still looking for proper diagnosis and treatment for her shaking but at least now, we can usually pinpoint a trigger for them….another step in the right direction.

Amelia has had her baby babble come and go. For a long time it would come in waves. She’d get to where she was building up mama, dada, baba…and then she’d go silent again for weeks. We had seen the speech come back as fluent gibberish and disappear again as well. Now, she seems to be making a painfully slow, but only forward movement in the speech department. She’s no longer non-verbal but not verbal either. She communicates first with screaming/screeching, then with sign language, and then with the few words she has if both of those fail. But she is making progress. Hopefully someday words will be her chosen means of communication. She has such a beautiful voice when she chooses to use it purposefully.

She’s also learning to read. It’s so exciting! Just a few months ago she started showing a strong interest in letters and numbers. She can now identify all of the letters and numbers (up to 10) and can pick out many of the words on her brother’s phonics cards as well. Pretty neat since she is still struggling so much in other areas. It’s reminder for us that a broken body doesn’t equal a broken mind. The farther we travel along this road, the more fascinated I have become with just how broken a body can be and how strong a mind can be despite it.

Update – 2016

Amelia is now 4 years old. She received an autism diagnosis earlier in the year but aside from that, it’s been a mostly positive year and we’ve managed to stay away from hospital stays outside of routine testing and upkeep with a handful of specialists. She’s still working hard at all the skills the doctors told us she’d likely never have and in the last year, she’s gained a lot of ground.

In the past year, Amelia’s shaking has slowed immensely. We can’t call it an all-out stop yet but I think that some day we’ll get there.

We’ve finally found a pair of glasses that she’s willing to leave on….which is super important for her. Her vision has always been a big issue and finding a script and a pair of glasses that work for her has been an incredible frustration. If her script is correct and she’s leaving her glasses on, she gains new skills left and right. She seems much more coherent too. If it’s off or there is something about the specs that bother her enough to be taking them off and destroying them, she loses skills and her shaking spells increase dramatically. This last time that she destroyed a pair of glasses, it took me several weeks to get them replaced. During that time, she spent so much time shaking and digging at her eyes that I think she must have finally decided that it was the glasses that made the difference. She was so happy to put them on when the new pair came in and she hasn’t bothered this pair at all. Finally, success!

Amelia is walking better. Much better. She’s running, jumping, and able to climb the stairs now. She’ll always have kind of a wonky walk because her hips are a little loose but she’s become a professional at taking what she’s been given and making it work.

Speech is finally coming too. She’s adding new words every week. It’s really exciting! It’s still painfully slow and she does still sounds very much like toddler just learning to speak. Even her cry, which she uses often to communicate when words fail her, sounds like an infant. I’ve had a handful of times that we were out and about and I heard a baby cry that I thought was her…but it was just that. A baby. So, she doesn’t sound like a 4 year old and she doesn’t have words like a 4 year old, which is confusing to people. I get a lot of ugly looks when she fusses. It doesn’t bother me like it used to but I still notice.

She still hasn’t slept through the night for more than a night or two at a stretch. A couple of months ago, I officially gave up the battle. We’ve tried diet changes, essential oils, a plethora of other natural remedies.  We’ve done EEGs and a sleep study to rule out seizure activity as the culprit and to get to the bottom of the issue.  I’ve even tried to drug her to sleep. Nothing has worked.  I think it’s just another one of those horrible things that will always be. It’s incredibly frustrating. But it is what it is.

Still, despite it all, she’s the happiest person I know. She’s happy when she wakes up in the morning and still happy when she goes to bed. Every day. She’s our little ray of sunshine and we love her so very much. 

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