Community Voices Spotlight

Sharing Your Family’s Diagnosis Journey

Our journey is like many in the community. Kayden started as a handsome baby and met his milestones like a champ. At a young age, he loved to play sports – I have so many memories of him shooting the basketball and bringing it to me saying “shoot, shoot,” trying to hand me the ball. When he was old enough, we put him in soccer, and he was a natural. He learned his colors, shapes, numbers, and his name.

In kindergarten, we started to notice him struggle a little with learning, so we tried to get him some extra help. In first grade, at age 7, he was diagnosed with ADHD. We felt that the medication helped in small ways, but every year he would make progress in his skills, then over the summer he would lose those skills, and we would have to start all over again, even with continued work. On top of that, he was losing other skills as well.

This eventually led us to reach out to doctors, who thought it was best to test him for Autism. Unfortunately, this was during COVID, and testing was delayed. About a year later, at age 9, he was diagnosed with Autism. We tried to accept that as our new normal, but Justin and I both believed deep down that it was something more.

Then, in February 2023, Kayden had his first seizure, and our world became scary all over again. We pushed for more answers but kept getting the same umbrella explanation – that it was “just his autism.” That didn’t make sense to us. Autism didn’t run in our family and seizures didn’t run in our family. We finally decided to seek outside help.

We reached out to the Mayo Clinic in Rochester, MN. There, we were told he would be seen by neurology and genetics. We met with Dr. Patterson and completed bloodwork, an MRI, LP, and EEG. All the tests except the EEG were normal, which we already suspected wouldn’t be. His seizure medication was changed, but that was it. After seeing genetics, we decided to move forward with whole genome sequencing. They told us not to get our hopes up because they only get answers about 30% of the time. We left Minnesota a bit more discouraged, still without answers.

Then in July 2024, we got the phone call that changed our lives forever: Kayden had Niemann-Pick Type C. I was in the car, having just picked him up from summer camp. I can still feel the tears that rolled down my face. Being told that Kayden had a disease with no cure broke me. I then went into fix mode. We spoke with Dr. Patterson again, and he explained that because of Kayden’s stage in the disease, treatment options were limited in helping him. He connected us with Dr. Berry Kravis, who was doing a treatment that might help. We were able to get in and start in October of 2024.