Lucas

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. He had hydronephrosis. There was water in his kidneys. This was monitored until he was 2 and we saw the fluid slowly decrease after time. 

His first year was hard. He didn’t sleep, and was allergic to most foods. He was colicky, had GERD and was sick, A LOT. As he grew out of most of these ailments around age 3, he started getting rashes when he was in the sun too long. At first I thought I didn’t sunscreen him enough, then when it continued to happen even with attentive sunscreen attempts, I thought he may be allergic to the sunscreen. I tried about 7 different sunscreens and found one that helped. I didn’t think much more about it. 

Lucas was a pretty typical 4 yr old, though his speech was delayed, he loved to do things that 4 yr old boys loved to do. Then he had his first seizure. August 28, 2020 changed our lives forever.

The first seizure lead to a CT scan of the brain, when that showed nothing we thought it may have just been a fluke seizure. It happens. But then he had another, and over the next month we felt like frequent fliers at the ER. There was an ambulance at our house almost every week for a month. This lead to an EEG, an MRI and an Autism diagnosis. The MRI showed gray matter on both sides of his brain. After we found a cause we assumed that if we targeted the affected areas, things would get better. They didn’t. He started having more seizures closer together. We tried medicine after medicine. We would cure one seizure, then a new type would start and we would change medication...again. Each time we change medication it is a 4-6 week process. Slowly increasing to start a new and slowly decreasing to come off another. Seizures continued. After a 2nd MRI we saw that damage was occurring to his brain because of the aggressive recurrent seizures and we scheduled a 24hr EEG to better pinpoint the type of seizures he was having and did a genetic test. The test came back positive for a CHD2 gene mutation.

When the neurologist called with this information all she could really tell me is that there isn’t much known about this disorder. She told me there were only 35 academic cases studied and she emailed me 2 articles talking about the genetic mutation. This is all we had to go off of. Until I found a Facebook group that lead me to Coalition to Cure CHD2. For the first time since the diagnosis I have hope for a cure. Even amidst medication trial and error.
After trying 5 medications, Lucas’s seizures were still occurring daily and he was having anywhere from 8-14 drop attacks. Now on 3 medications he is lucky to be going 7-8 days without seizures, and maybe only 1 or 2 in between.

It hasn’t been an easy road. We’ve hit his threshold on 2 of his current medications which we realized after he was showing symptoms such as: vomiting, abnormal eye movements, dizziness, and unusual seizures. So while things are somewhat controlled for now, we will inevitably have to start the “trial and error” process again when his seizures break through. But for today, we can smile knowing that it is working right now. Lucas is 1 week seizure free for the first time since before Christmas. 

Our family is constantly learning new information about CHD2 and things from the past are starting to make more sense. We look forward to the strides being made to find a cure for CHD2 and will not stop sharing our story and educating others so that parents who are dealing with these challenges, won’t have to go through them alone like we have before them.

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CHD2 Heroes

Cora

It took a little longer for us to figure out that something was not right. How could we have.. known?

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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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