Our son Harrison is 22. He was born through IVF and ICSI. In his early days, I knew something wasn't right as he sat up late, walked late, dribbled a lot, and was quite shaky. He had a febrile seizure at around 9 months, which they attributed to a virus after a lumbar puncture in the hospital. Harrison talked very well from an early age. He eventually walked at around 2 years old. He was under a pediatrician from an early age and was diagnosed with Global Developmental Delay and Ataxic Diplegia. Doctors always said not to compare him with other children, but I just knew something was different. A mother's instinct.

 

He went to school, and we kept fighting for answers. At 8 years old, he finally received a diagnosis of autism. During this time, my niece and nephew were diagnosed with dyslexia and dyspraxia, which I suspected Harrison had as well, but he didn't get those diagnoses until he was 12 years old after much fighting. He was also diagnosed with Irlen Syndrome, tracking problems with his eyes, and a condition where his eyes were misaligned by 60 degrees. He had to have an operation to correct this.

 

When we requested a change of pediatricians, we got an absolutely fantastic one who suggested participating in the Developmental Delay Study (DDD). We all had to provide saliva samples to see if anything found was genetic. We waited years, and just as I was looking into the Genome study, we got a phone call saying they had found a faulty gene in Harrison called YWHAG, with only 8 other known cases in the world. They couldn't tell us anything about it; we would be providing them with information. They also told us that all the other children with this mutation had epilepsy, which Harrison didn't have at the time. The geneticist wanted to write a paper on Harrison because of this. 

 

We went to see them. They took photos of Harrison and asked loads of questions. Exactly 10 days later, we were woken in the middle of the night by a strange noise and found Harrison having a seizure. We called an ambulance. This was the start of a horrific roller coaster because, in addition to seizures, Harrison started having a racing heart. We were told if his heart rate went over 220, we should call an ambulance. This happened many times, but we managed without calling ambulances. 

 

It was even more challenging because Harrison was 17, and we couldn't get anyone to help since he was too old for pediatrics but not old enough for adult care. Luckily, my husband had medical insurance that covered it, and we found a fantastic heart specialist. Harrison used his Apple Watch to record his heart rates, providing necessary data without needing medical interventions, which he dislikes. He was eventually diagnosed with Supraventricular Tachycardia. Even with private hospital care, the surgery had to be arranged at the last minute in a different hospital. Since the operation, Harrison now has a very low resting heart rate, but it didn't stop the seizures as we had hoped.

 

Harrison had never taken medication, so starting him on medication for his seizures, which were quite frequent, was very hard. He is now on Epilim, which controls his seizures. He has been seizure-free for 5 years, with only one small incident when he didn't put his phone down and go to sleep.

 

Finding this group is amazing. We asked the geneticist if we could meet other families, but it never happened. It's nice to have others to ask about things. Just wish we had found it sooner! 

 

As Harrison has gotten older, things have become a little easier in other ways because he can explain things to us, and we can explain things to him. We call him our Mutant Hero like in the X-Men films because he is unique; the faulty gene is so rare, and he didn't have the epilepsy onset until later in life. Having Harrison has been the most amazing journey in our lives. He has taught us so much and made us the people we are today. Also, he has a beard just like Wolverine from the X-Men.