Savannah

Savannah

When Savannah was approximately 6 months old, we noticed she wasn’t meeting her milestones and had a twitch/tic like tendency. We brought it up to the pediatrician and were told not to worry, she was fine, that it was just “her nervous system working out its kinks”. That was the first of countless misdiagnoses.


Over the first few years I was told that I was just a new mom, looking for things that could be wrong with my baby. I was told that her head drops were just her being shy possibly paired with a stutter. It wasn’t until she was 5 that we finally got a referral to a neurologist and found out she was having near constant seizures. That neurologist ordered an MRI where she was diagnosed with type 1 Chiari Malformation. We thought that was our answer, the cause of her endless list of conditions.

It took some time, but once her seizures were under control it was like she was a different child. She could talk to us more clearly and told us how different she felt. She was nearly 2 years seizure free, but her problems persisted. In addition to seizure breakthroughs and GI issues, she wasn’t growing. Her doctors called her medically complex, but through it all Savannah had such a great attitude. She went from being terrified of doctors, to understanding this was just how things were for her. She isn’t a “Why me?” type of girl. Savannah is most definitely a glass half full type of gal. She is eager to learn and wants to make friends, despite the tough time she has doing both.

Savannah has always been a fun, silly and sweet girl. Her mood swings and aggressiveness came later. Along with eyelid fluttering that we couldn’t explain. That’s when her new neurologist ordered the genetic testing. It took a while to get these results, understandably so, given that we were in the middle of a worldwide health pandemic. When we received the results, we were told she had a CHD2 gene abnormality, our emotions were mixed. Surprised, sad, fearful, relieved. After all the years and all of the doctors, we finally had a definite answer. Savannah’s neurologist couldn’t tell us much other than how rare it was, that it happened in utero and that she was referring us to a genetic specialist. She informed us of a Facebook support and research group that she wanted us to join. And thus, began our CHD2 journey.
We’re new to this, but we have hope. Our wish for Savannah is for her to live the life she deserves… a healthy, fulfilling and beautiful life. A cure for CHD2 would undoubtedly contribute to our wish for our girl so we will continue to advocate for awareness and keep up hope for a cure!

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CHD2 Heroes

Cora

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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.

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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

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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.

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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.

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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.

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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.

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Colin

Colin was born in April 2015 at 29.5 weeks, 10.5 weeks early. He is currently 5 years old.

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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

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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

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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

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Savannah

When Savannah was approximately 6 months old, we noticed she wasn’t meeting her milestones and had a twitch/tic like tendency.

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Julian

The CHD2 Support & Research Facebook Group was one of the most meaningful groups I joined in 2019

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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

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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

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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.

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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

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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.

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Charlotte

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