Carrie: Gervais syndrome, Cerebral Palsy, Autism, and SCN1A Gene Mutation

Inspiring life despite a diagnosis

Carrie was only 22 years old when she received the unexpected news that her son, Luke, was born with several disabilities. She lived far away from family, and single was single.

Carrie

Finding out your child is different

Reflecting back, Carrie said, “So even from the beginning I honestly just thought ‘This is what I have.’ I didn’t know any different as a parent.” As a first time mom, Carrie didn’t have anyone to compare Luke to. She said, “I think in a way that was a blessing.”

Luke has several diagnoses. His main diagnosis is SCN1A gene mutation which is the underlying cause of all of his diagnoses. He also has been diagnosed with Gervais syndrome, a life-long severe form of epilepsy, cerebral palsy and autism.

“I do remember the day we got that first diagnosis of autism. I was alone at the appointment; i was living in Atlanta with no family..there is a mark in your life where nothing will ever be the same..I pulled my car over and I remember processing that and thinking, ‘This is forever now.’” Carrie shared.

Having a supportive family despite the distance

Even though Carrie lived several states away from her family, they took it upon themselves to be as supportive as possible. Carrie shared, “My mom went to almost every one of my son’s appointments for 20 years now. For any procedure we had done, she is always there.”

She continued saying, “They have never made it awkward. I feel like they have done a good job of privately educating themselves, being comfortable, caring for him and being able to help.”

Marrying when you have a child with a disability

When Luke was eight years old, Carrie started dating a man named Kevin. Kevin and Luke hit it off immediately. Carrie shared, “Their bond is just unbelievable, the level of love and trust between them. I often feel like the outlier because he (Kevin) is the favorite and I love that.”

Carrie knows how lucky she was to find Kevin. She said, “To have a man come into someone’s life with a child with severe disabilities and to make a choice to adopt him and to accept that and not only to accept that but fully embrace it and love his role as his father. I do know how rare that is.”

Being honest with where you are at

Carrie shared that she was fortunate enough to have several mentors in her life that gave her great pieces of advice. She recalled their advice by saying, “..let yourself have the grief and let yourself have the breakdowns.. I think it is important to be real about the emotions that come with this and to let yourself feel them.”

She added, “At the same time though, let yourself be open to the happy times as well..reduce your expectations, and just roll with it. You can’t really plan for a life. You just never know, developmentally what it is going to look like next year, what your support system is going to look like next year. You just need to have love, and faith and just go for it.”