Davis Out of the Unknown: a family’s life with Koolen-de Vries Syndrome and their search for treatment
Ashley Point is mother to Davis, a seven-year-old boy who lives with Koolen-de Vries Syndrome (KdVS). Here, Ashley describes how a group of talented young filmmakers created a documentary, Davis Out of the Unknown, depicting the family’s efforts to find a treatment for Davis’s condition. She also explains the work of the non-profit My Kool Brother, established by Ashley and her husband, Dana
Written by Ashley Point, My Kool Brother
Failure to thrive, missed milestones, recurrent respiratory infections, hospitalisations, hypotonia, physical therapy, medications, pulse oximeter, seizures, emergency medication. These were our new reality within the first year of Davis’s young life.
Davis was born a happy, albeit premature, little boy. At birth, we noticed several markers of a genetic disease, but they were brushed aside. He had his first seizure at 12 months and this finally opened the door to genetic testing and his eventual diagnosis of Koolen-de Vries Syndrome (KdVS). We were fortunate to have a short diagnostic odyssey of only 16 months at diagnosis.
KdVS is a disease that affects every cell in the body. Individuals with KdVS may have hypotonia, respiratory/cardiac issues, seizures, cognitive, intellectual and speech delays, among other features.
Davis Out of the Unknown—the film
Davis Out of the Unknown was created to highlight our family living with Koolen-de Vries syndrome, a rare disease. This documentary features our family as we fight to find a treatment for our seven-year-old son. A talented group of young filmmakers spent one weekend in our home and turned 14 hours of tape into this 12-minute documentary.
Davis Out of the Unknown has been screened at National Film Festival for Talented Youth, Scout Film Festival, Austin Film Festival, Beyond the Short, three Global Genes Conferences, the Rare Fair. It won the Premio Speciale USR-Telethon Award at the Uno Sguardo Raro Film Festival (the European Rare Disease Film Festival).
The name “Davis Out of the Unknown” comes from the fact that we do not know what the future holds for Davis. Will he be able to drive (he suffered a stroke and has partial blindness)? Will he graduate from high school or will his cognitive/intellectual delay be too much to overcome? Will he regress from one too many seizures? Will the world be able to understand him with his speech delay? Every parent questions the future for their child, but ours has many more obstacles to overcome. One seizure could change Davis forever, so we push hard for a treatment and to preserve our new kind of normal.
The non-profit My Kool Brother was created after the documentary. It was founded with the goal of supporting the development of better medical therapies and treatment options for individuals with KdVS. We hope to accomplish this by working directly with researchers and pharmaceutical companies. Dana, my husband, and I feel strongly that research is the answer to our son’s struggles. Because of this, Dana and I cover all administrative expenses associated with the foundation. Every single dollar raised is directly given to the research community. Research may be able to give his body the KANSL1 protein that it needs to function normally. Research may be able to ensure a seizure does not take his future away. Research holds the key to his dysfluency and articulation errors of speech.
As you might imagine, that means it takes a community to support a child with Koolen-de Vries syndrome (pronounced Koolen da freeze). Please watch and share our documentary with friends and family.
“Every child deserves a happy, healthy life.“
Further information about KdVS: rarediseases.org