Sophia
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.
CHD2 Heroes
Cora
It took a little longer for us to figure out that something was not right. How could we have.. known?
Keep reading
Kolman
His journey starts all the back in January of 2017. When Kolman was 14 months old he had his first seizure. It was one of the scariest days of my life.
Keep reading
Sophia
I’ll never forget the night I held her for what seemed like an eternity, while she was ..per..encing petit seizure clusters. It wasn’t the first time, but it was the worst we had
Keep reading
Caleb
I remember experiencing what felt like a shiver shake in the tummy, the type of shake that.. someone would have when they feel a chill.
Keep reading
Finlay
Whenever he was awake he would be dosing off. I now realize that he was having seizures.. but his eyes would be rolling into his head.
Keep reading
Robert
Last year, I wrote about my admission into a very exclusive, special-invitation-only parent group that will define the rest of my life.
Keep reading
Luca
When the Coalition to Cure CHD2 was formed, I wanted to help but was not sure how. I would not be any good at fundraising or technical support.
Keep reading
Colin
Colin was born in April 2015 at 29.5 weeks, 10.5 weeks early. He is currently 5 years old.
Keep reading
Emma
Emma is a unique yet important member of the CHD2 community because of the discovery of her ultra-rare genetic problem that is quite different from the typical case of CHD2
Keep reading
McKenna
Having triplets plus one in one year changed my life in more ways than I ever thought possible, but it had been a long-time dream of mine and I was up for the challenge
Keep reading
Janine
The journey of our daughter living with CHD2 started back in 2007 when she was 6 years old and seeing her eyes fluttering non-stop for minutes at a time, multiple times a day
Keep reading
Savannah
When Savannah was approximately 6 months old, we noticed she wasn’t meeting her milestones and had a twitch/tic like tendency.
Keep reading
Julian
The CHD2 Support & Research Facebook Group was one of the most meaningful groups I joined in 2019
Keep reading
Aiden
Aiden, and his twin brother Logan, was born in the US in 2005. They were much wanted IVF babies and were a blessing (and a handful) from day one
Keep reading
Kate
She was born at my parents’ house as I had a horror of hospitals, having quite recently given birth to an anencephalic baby that died at birth in one
Keep reading
Lucas
When I was pregnant with Lucas, things were great...until his 20 week anatomy ultrasound. The tech noticed his kidneys were a little large.
Keep reading
Angel
I could not have chosen a better name for my son. An angel from the day he was born, who came to teach us lessons of life and love to his parents and siblings, to give us new ways of understanding and facing life
Keep reading
Sam
I was born on February 17, 2010 and I am super excited for my birthday! I remember when I was a baby, 15 months old, when I started having quick arm movements that I could not control.
Keep reading
