About Us

Skylynn was born in 2012, seemingly healthy. Though, even as an infant we had always noticed differences in sky in comparison to her peers. For example, she rarely ever cried as a baby and slept through the night since I brought her home from the hospital. As she grew, we began noticing an obvious speech and developmental delay; though she was always in the 90th percentile for height and weight. At around 3-4 sky began having grand mal seizures. Also, at around this time, she was diagnosed with Autism Spectrum disorder.

On our journey to better understanding Autism, we joined the Spark for Autism study where we both went through genome testing. This year, we learned that her autism is likely caused by a genetic mutation, IRF2BPL or NEDAMSS for neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures, which is caused by spontaneous mutations in the Interferon Regulatory Factor 2 Binding Protein Like (IRF2BPL) gene. This mutation is so rare that there are currently only about 40 confirmed cases WORLDWIDE. From the very limited data that exists, this mutation robs children of their ability to walk, talk, and eventually move. As of august 2023, of the 40, there is only ONE confirmed case of somebody living past 25.

To know Sky is to love her. She was BORN with a sense of love and empathy that most people have to work at. Sky is kind, always thinking about others, she is an amazing big sister, she has a way with animals that many don’t understand, she is smart, she loves music, and she is a warrior.

Sky LOVES to run around with her dog, she LIVES to swim (I don’t know how she hasn’t grown gills yet), she enjoys gymnastics and cheerleading, she has always loved to play in the snow and now she’s learning to snowboard.

Unfortunately, if we can’t find the funding, it is highly likely she will stop being able to do all the things she loves.