Adam’s Superhero Story

Adam is a SLC13A5 Superhero. Here are a few fun facts Adam’s family shared with us!

• Name: Adam
• Age: 19
• Homecountry: United Kingdom
• Adam enjoys playing games & watching things on his iPad!
• His favorite movies are Toy Story, Cars, and Monsters Inc.
• Adam loves milkshakes!
• Adam is very happy since we moved, as he loves to see his older brother and Grandma more.
• He loves receipts, and he likes to collect them from every shop, cafe, etc. we go to!
• Adam will not leave the house until he has seen the postie (postman) and we have our mail!
• He loves music and trying to sing along to tunes he knows.
• Adam attends an adult day centre three times a week.

Adam’s Medical Journey

Adam was born by elective c-section at 38.5 weeks with a perfect Apgar score – best out of all 4 kids! Everything seemed okay, but we had a grizzly overnight and I needed to sleep, so I asked the midwives to look after him for a while. I felt guilty for asking but the mum next to me was having a hard time too with sickness and I desperately needed some sleep!

Adam was brought back to me around 7:30 a.m. and I tried to latch him on to breastfeed but he started twitching. I knew this wasn’t normal seeing as he was my 4th baby, but I looked at the midwife and she just said try again, which I did, and he did the same thing. The midwife took him, said she was going to speak to someone, and that I just had to wait. She came back a while later without Adam, and said he was doing it again and he had been taken straight to Special Care Baby Unit (SCBU). Adam spent a week in the SCBU trying to get his seizures under control. I think there were about 28 seizures recorded on that first day.

After a very anxious week, once everything seemed okay and the seizures stopped, we took Adam home on his dad’s birthday. Then on the 18th May at home with the General Practitioner (GP) doing his postnatal home visit, Adam had a seizure in front of the GP, so back to hospital we went for another few days, undergoing numerous tests that all came back normal. Adam finally got a diagnosis at age 11 after nearly 2 years on the Deciphering Developmental Disorders study.

I think behaviour is our biggest challenge. Adam is quite stubborn, gets a bit obsessed about things like the postman coming every day or getting a receipt from every shop he goes to. If he doesn’t get what he wants, or we don’t say the right things, then Adam will refuse to do what we ask, like go out, have his medicine, etc.

No therapies involved now, but he had speech and language, physio, etc., when he was little. Adam can walk independently but has an ataxic like gait, he does use a wheelchair when out walking quite a lot due to behaviour and also just getting hot and tired.

Adam’s tonic clonic seizures are pretty well controlled with Carbamazepine, but he regularly has focal seizures which have started to change more over the last few months. When he was younger he would have absence seizures. He has tried several meds but Carbamazepine seems to be the best one for him. As we have moved counties we are waiting to speak to a new neurologist. Apart from the GP, since we moved, we do not have the epilepsy team support that Adam has had all of his life.

Apart from being a bit slow to sit up and crawl, and on meds for seizures, we didn’t really realize Adam was going to have long term disabilities until we got a new pediatrician when Adam was about a year old (the previous one retired). The new one was great and she put it to me in black and white that he would basically have problems for life. We had her until Adam was 16 and she was great, and was sad when we had to move him into adult services. Our worries are more for the future now that he is 19. As we get older he will probably end up in some form of residential care and it’s trusting others to do right by him. Thankfully he has 3 older siblings who will hopefully look out for him.