The story of Kaitlin
Liam was the most perfect baby. He nursed well, slept well, hardly cried, and hit all of his milestones. It wasn’t until he wouldn’t crawl on all fours that we started to worry. He would low crawl or roll to where he wanted to go and had so much fun doing it. The pediatrician said “not all babies crawl” so we waited and watched. Then at 18 months he wasn’t even trying to walk. He would pull himself up and cruise, but couldn’t stand on his own and wasn’t taking any steps. His speech started to slow down too. He was evaluated for physical therapy and started when he was 19 months old. He did beautifully. He had a weak core and he was scared to try new things so we worked on that. He was fitted with SMO braces to make him feel sturdy. He took his first real steps. He got better and better. His speech very slowly increased, so he was evaluated for speech therapy and started that at 26 months old.
Everyone thought he had a global developmental delay and would just catch up with some work. To check off all of the boxes we took him to an orthopedist who did an xray and discovered his hips and legs were perfect and then very callously suggested he had muscular dystrophy without even examining him. I threw up in the parking lot. I didn’t want to lose my son. Immediately we scheduled a neurology appointment and while we waited for it Liam’s amazing pediatrician called in some blood tests so we could rule out MD. He had a PT session and then we went to the lab. I was terrified. Liam was a champ. Didn’t even flinch as they drew his blood.
The results came back, it wasn’t MD. We were back to thinking it was a developmental delay and he would be fine. The neurologist examined him and said the same thing. What a relief! She suggested if our insurance would cover it to do genetic testing to see if there was a cause for his delay, but said if insurance didn’t cover it not to worry because she didn’t think they would really find anything- it was more of a cover all bases thing. We never heard from the company about insurance so we forgot all about it.
Then we got the phone call. Liam’s results came back with a microdeletion on his number 17 chromosome- 17p13.3, PAFAH1B. This is known to cause lissencephaly or “smooth brain” and he would need an MRI to determine if he had this or not, but he had no real symptoms so no one believed he did. He had his MRI shortly after on Friday January 25, 2018. That Monday my phone rang, it was the neurologist. He didn’t have lissencephaly, but a related disorder called pachygyria. I actually fell to my knees and cried. Suddenly my son’s future was so unsure. Would he ever really talk? Run? Get married? Have kids?
It took months for me to get a better grasp of his diagnosis. When I went on google, I didn’t see my son in the results. He was perfectly healthy, just a little behind. I decided he would be fine. His case was very mild and he could live a perfectly normal life. I felt at peace. Then his seizures started.
We knew seizures were a possibility, but he was doing so well we didn’t think it would happen. On September 10, 2019 while getting Liam ready for school he started having this weird facial expression. I had actually seen it before, but no one thought it was a seizure. His eyes flutter and his jaw pulls. That’s it. Blink and you miss it. It happened over and over even after I put him in his car seat to take him to the emergency room. It wouldn’t stop. I had to call 911 and he was transported by ambulance to the hospital. Because I had my one year old daughter with me, he had to go alone. That hurt almost as much as him having the seizure. He was just this tiny little baby in an ambulance with strangers. It was horrible.
An EEG at the neurologist later that day suggested focal epilepsy. He was started on medication immediately. He seized almost every single day for months. Rescue meds were used twice- two days in a row. A second medication was added and they were both increased. We’ve started to gain a tiny bit of control finally and know his trigger. With a couple exceptions, his seizures are always upon waking up from his nap. It gives me anxiety every single day.
There is hope though. Even through all of this, Liam thrives. His speech continues to improve and he talks more and more. He can run and walk, but not jump or do steps without a handrail. Most importantly, he’s happy. He loves school and his classmates. He enjoys playing with his baby sister and arts and crafts. Dinosaurs and trains are his favorites. He would watch Mickey Mouse or Elmo all day if I let him. He’s the sweetest little boy in the world.
As a family we didn’t tell many people, worried about what people would think. We decided we didn’t want Liam to ever feel like he should be ashamed of who he is and so now we’ve started to speak out. We can’t create awareness if we’re silent and we can’t raise money for research without awareness. He has pachygyria and epilepsy, they do not have him!