These are the true heroes... Our beautiful children!
Nika was born in 1997.
She was a beautiful baby. Nika started to have seizures when she was 5 months old. The seizures have changed through the years, but they still occur. Nika uses a communication device to speak and she gets around in a wheelchair.
She really works hard at everything she does and we are very proud of her achievements, which include teaching a class called “Empowerment with Nika”.
Nika loves her family and being with her friends and her dog. If only
one day the seizures could abate life would be lovely!
Jayna was born in 2003.
She was not premature; she was overdue. Doctors had to induce labor for our little one to come out. She was over 7lbs and had a head full of hair. The cutest newborn baby we ever saw! There were complications at birth; she wasn’t breathing right away, and she was fighting some type of infection. She was in the NICU for about two weeks, and then she was released.
About two months old, we noticed she wasn’t responding normally to our voice and her hands were always in a fist. Her feet also looked a little different. The orthopedic doctor called one foot a clubfoot and the other a rocker bottom foot. Jayna has multiple contractures, resulting in multiple surgeries throughout her whole life starting at the age of 1.
She was diagnosed as having cerebral palsy. For many years, we thought that is what it was. It wasn’t until we met Dr Jarrar at the Phoenix Children’s hospital and performed an EMG on Jayna. When it was confirmed it was a muscular issue, she then referred us to Dr Bernes, a neuromuscular doctor at PCH. Then, we were referred to Dr Engle and Dr Selcen at the Mayo clinic in Rochester, MN. They were the ones to finally diagnose her as having a gene mutation SNAP25B, myasthenia, cortical hyperexcitability, ataxia and intellectual disability. She doesn’t experience seizures like many other SNAP25 kids, but her EEG always comes back abnormal.
Jayna is a beautiful happy girl, with no worries in the world. She loves to go shopping and enjoys amusement parks. We try our best to make her life experience as enjoyable as possible. However, as parents, we are still looking for answers and hopefully a cure. Maybe in Jayna’s lifetime, there will be one someday.
Samuel was born in 2016.
After a totally normal first year Samuel had his first seizures just hours after his 1-year vaccine. They started as drop seizures and long tonic-clonic seizures during sleep. This was in October 2017.
For a long time now Samuel has seizures during sleep. 10-15 seconds of tonic/tonic-clonic seizures. His EEG is not looking that great but we see very good development at the moment. He is delayed in speech and has some motor skills issues but is a true fighter and never gives up! He knows letters and numbers and loves music. He has a great sense of humor and empathy. He is a great inspiration to everybody around him. We don’t know much about his future but every happy second counts.
Like our geneticist said: “Let Samuel be Samuel”.
Nothing else matters.
Gabriel was born in 2016.
The Snap25 mutation was discovered by a French laboratory in Dijon thanks to genetic research on the exome. Our geneticist informed us of this mutation in February 2021 and we were relieved to find out the name of Gabriel's genetic mutation.
Gabriel has global developmental delay and autistic traits but he has never had an epileptic seizure. He has a foot deformity. He walked at 3 years old. He does not speak but he is learning to express himself. Since his birth we have accompanied him so that he progresses, through for instance physiotherapy and psychomotricity.
Since Gabriel was 4 years old he has attended a specialized establishment for children with disabilities. Thanks to their support, he manages to gain autonomy at his own pace: he learns to eat on his own and rides an adapted bicycle.
Gabriel is a determined, smiling, mischievous little boy who loves life and his daily activities.
My son has a Snap25 mutation and we were only diagnosed when he was eight. I wanted to share a story of hope really- we pretty much lived in our local hospital (in Wales, UK) for the first four years of his life but now there's no stopping him! He loves mountain biking on his tandem that he shares with his Dad and goes to school in a special needs class in our local secondary school. He has a great group of friends and has a better social life than I do!
I was so worried about what life would be like for him for a long time but I no longer worry. He's happy and has a bright future ahead of him despite his physical and intellectual disabilities.