Zachary

For all intents and purposes, Zachary is your typical 6½-year-old boy who loves building things and throwing balls. His animated, social spirit can usually break through the walls of even the most introverted person.

Zachary was an early talker—his first word, “duck,” came at just 9 months. Aside from some minor walking delays, he met all his milestones and grew into the handsome loving boy he is today.

We first noticed sporadic periods of fatigue around age 4, but we didn’t think much of it. We assumed they were due to his younger sister, Victoria, waking him up in the early mornings.

At age 5, Zachary started full-time school, and the fatigue increased. Although his teacher raised concerns early in the year, we still thought it could be due to the big adjustment to a new routine. Routine checkups and nutritional screenings all came back normal.

We eventually realized that this private school’s program was too demanding and that Zachary needed more one-on-one support. Fortunately, around the same time we found our dream home by the water, the public school we were zoned for felt like a perfect fit. They could accommodate shadow and intermittent specialist care.

On the day of our move—November 28, 2024—Zachary had his first tonic seizure while in his grandmother’s care. It was a shock to all of us.

The next day, the clinic doctor explained that seizures in children can be common, especially during periods of stress and change. A follow-up was scheduled. About a week later, Zachary had another tonic seizure, this time with his mother. We called an ambulance and were scheduled for an EEG in the coming days.

Fortunately, Zachary was very tired during the EEG, allowing the doctors to capture irregular brain activity. In a short 30-minute scan, he had approximately 10 myoclonic and absence seizures.

The doctor confirmed that Zachary had epilepsy and recommended genetic testing because of his recent autism diagnosis. The results showed a CHD2 missense variant. Although the diagnosis was shocking, it helped explain some of the behavioral traits often linked to CHD2-related conditions, including autism and ADHD.

We are extremely fortunate that his seizure medication worked immediately. He began on liquid valproic acid and later transitioned to Mylan divalproex tablets. The medication completely stopped the “fatigue mornings,” and Zachary became energetic throughout the day. A few months later, he was diagnosed with ADHD as well.

Medication and support have significantly improved Zachary’s developmental progress. While he still needs frequent one-on-one help at school, he has made tremendous strides.

He is now learning to read in both French and English and can count up to 30. His newest hobbies include helping Mom cook and playing toy-stacking games in the basement. We are so proud of everything he has accomplished.

We will continue supporting our boy the best we can and leaning into his strengths as we navigate this unfamiliar path. We are deeply grateful for the CHD2 community and the work being done to advance research and treatment.

Click for Enlarge