Our youngest son Dante was born 9/11/2015. He was the cutest baby with the biggest cheeks. By the time Dante reached his first birthday he could only get around in an army crawl and could not pull himself up to a seated position. He had very little core strength and fell over when we sat him down. At 15 months he started early intervention services while we continued to search for answers. Dante’s pediatrician is amazing and started sending us to any specialist she could think of to rule out possible causes of Dante’s delays.
In March 2017 just before he turned 18 months, Dante had his first seizure. This was the most terrifying experience. Dante was home with his dad and brother, and just woke up from a nap when his face started turning red and flushed and he was throwing up. Thinking he was having an allergic reaction, Dad called 911. The EMTs came and administered an EPI pen but then Dante started noticeably seizing and they could not get him to stop.
I rushed to leave work and meet them at Children’s Hospital where he was still seizing, surrounded by a team of doctors doing everything they could to help him.
After CT scans, MRIs, bloodwork, and continuous monitoring in the PICU, it was determined Dante had a febrile seizure and we were sent home a few days later with a Diastat prescription and a handout on how to treat seizures.
Febrile seizures are caused when little kids spike a high fever rapidly and they usually outgrow them by 5 years old. After a week in the long term monitoring unit in May with no signs of seizure activity we were confident he was a one time only case.
In the meantime, we headed to the University of Rochester to seek a second opinion from a neurologist there about Dante’s condition. We were assigned a neuro-geneticist who sent us that same day to have blood drawn for genetic testing.
A few months later we received the diagnosis of an AP4S1 genetic mutation which is also associated with Spastic Paraplegia type 52 (SPG52). We had the answers to all the causes of Dante’s global delays, microcephaly, spasticity, and even the seizure.
Dante’s therapy services increased and we were hopeful he was going to be ok but it would just take him longer to reach milestones than other kids. And we were ok with that because we knew why this was all happening.
A few weeks later just after Dante’s 2nd birthday he had his second febrile seizure. He was taken to the hospital again by ambulance and seized for over an hour before they could get him to stop. He also had to be intubated again and stayed in the PICU for a few days. This time we left with a higher dose of Diastat and added on a daily Keppra prescription as a preventative.
As time has gone on we found families with kids that have the same type of SPG as Dante or very similar types (AP-4 related SPG). We learned that Dante’s condition is neuro degenerative which means if he does ever learn to walk independently, he could just as easily lose that ability due to increased spasticity.
Dante is the happiest little kid you ever met, he loves to laugh and playfully tease people. He brings us so much joy every day even though we don’t know what his future might hold if we don’t find him a cure.
Learn more about AP-4 HSPs here.