It isn’t always easy, but I think it is important for us as parents to share our stories. Our experiences can support and strengthen others. When I share our story with families facing similar challenges, I feel like it brings some meaning and purpose to the hard things my son Jayson goes through. I hope our story in this genetics episode of “Access Child Neurology” can help some parents looking for answers for their children.
The West Family
Jayson’s diagnostic journey is unique and without our actions and advocacy as parents, Jayson would not have got a diagnosis when he did. Our preauthorization request for Whole Exome Sequencing was denied by insurance, and our geneticist did not see an urgent need to appeal. The doctor wanted to take a “wait and see” approach. That didn’t work for me. I feared without a diagnosis we might miss things that could affect our son’s current and future care. I believe as parents there are things we can do when we hit roadblocks. There are often other options, resources and opportunities available that we must find without the help of medical professionals. In our case, we found a lab that offered self-pay and financial assistance programs; they worked with us to get answers through Whole Exome Sequencing for our son. Jayson was the first diagnosed with his genetic condition that began as a Variant of Unknown Significance. There are now over 60 people in the world that have the diagnosis of MCTT (CEBALID) Syndrome. Our persistence as parents paid off and had a huge ripple effect. Not only did our son get a diagnosis, but he plowed the way for others to be diagnosed in the future which is affecting their medical care.
As parents we may not all be medical experts, but we are the experts for our children. We manage to find a way and we never give up. We share our stories and support one another; and I honestly believe our persistence, determination and advocacy are advancing medicine and making miracles happen. Keep going. I know it’s hard. There are so many roadblocks. But the love we have for our children truly makes anything possible.
About Access Child Neurology
Access Child Neurology bridges healthcare gaps through heartfelt dialogues between parents and healthcare experts. Discover actionable solutions tackle critical topics, like epilepsy management in schools, back to school, behavior management and more!
This episode of “Access Child Neurology” brings together Tristin West, a mother of a medically complex son, Dr. Christa Whelan Habela, a pediatric neurologist, and Krista Schatz, a certified genetic counselor, to discuss the role of genetic testing in helping children find a diagnosis. They talk about some of the questions and challenges families and clinicians face related to genetic testing, recommendations for when it should be considered, the essential role of genetic counseling, and resources to better understand and access testing.
Watch Tristin on Access Child Neurology: Genetic Counseling