This isn’t easy to talk about, but if there is ever a time to share our baby girl’s story, it’s now. Our sweet Sophia is one of a kind. I’ve said that since the moment I saw her beautiful little face 9 years ago. She’s so funny and kind, and she has this magical ability to bring joy to anyone she comes across.
We noticed around 9 months of age, that Sophia was having a little trouble reaching certain milestones on time, and every now and then her eyes would roll to the back of her head. By the time she was 4, her eye lids were constantly fluttering, and every now and then she had trouble finishing sentences. We took her to the neurologist, who immediately diagnosed her with Epilepsy with eyelid myoclonia. Further testing would reveal that she was having absence and non-absence seizures throughout the day, as well as in her sleep. She’s been taking multiple medications twice a day, and we noticed a slight improvement, but still not enough.
Her neurologist recommended we have her go through genetic testing last year, and it was then we discovered that she has the CHD2 mutation/ deletion. I’ve always tried to keep it together, especially in front of Sophia. But all I can remember from that moment was turning to my husband and sobbing uncontrollably. Our 65% chance of hope that she would outgrow this awful disease has now been dropped down to 0%. The geneticist suggested that we look into joining not only support groups, but also therapy to help us while we navigate thru all this. We knew from that point our lives were going to change.
We have an amazing support system of friends and family, but even those closest to us struggle with what to say. All they can do is listen when we need to vent, and hug us when we need to be held. We have been told “she seems so normal” many times by people, which I know is their way of trying to make us feel better. But it doesn’t.
I’ll never forget the night I held her for what seemed like an eternity, while she was experiencing petit seizure clusters. It wasn’t the first time, but it was the worst we had seen. It was absolutely heartbreaking, and something I wouldn’t wish on my worst enemy.
Sophia doesn’t seem to let any of this get to her. Of course she doesn’t understand her condition to the full extent, but she knows she has to go thru things that a lot of kids don’t. MRI’s, EEG’s, and endless amounts of bloodwork. Yet she never complains, in fact she is still so happy. And that is something that we hold on to. SHE gives us hope and strength which gives us the determination to do whatever we have to do to fight for her. Our little one of a kind, special girl who is not defined by her diagnosis.
Thank you Coalition to Cure CHD2 for all that you do to help bring awareness.
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