Rowland (aka Roly) was diagnosed on August 30th 2016 with a very rare syndrome called ADNP syndrome (sometimes referred to as Helsmoortel-van der As Syndrome). It is thought to be caused by a non-inherited spontaneous (or “de novo”) gene mutation. It is a complicated neurodevelopmental disorder that directly affects the brain and many other bodily functions. It has been the answer to Roly’s inability to meet various developmental milestones.
Roly is a giggly, happy and engaging little boy. His infectious smile made our medical journey difficult. We were told by numerous doctors that he had global delays, which they described as “The Rowland Syndrome.”
With this non-specific diagnosis we were unable to understand his random medical problems. He had eye surgery for strabismus, two sets of hearing tubes put in, tonsillectomy and adenoid removal for sleep apnea and then prescription treatment for a thyroid condition. These treatments were for his physical problems. We began to look into a more holistic approach by placing him on a gluten and dairy free diet at 12 months of age and daily supplements and homeopathy that I need my iPhone to keep track of.
Roly had met his milestones at a year but we noticed low muscle tone, a delay in walking, and he was acquiring words and then losing them. As years went by, “The Rowland Syndrome” was no longer an acceptable answer to us and we decided to seek genetic counseling. We had not considered this earlier as we had done extensive genetic testing in utero because we had lost a child before Rowland’s conception, and Rowland’s results were negative.
Although the wait for the new results was daunting, the outcome provided us with a concrete answer, and relief that his issues are directly related to his syndrome. With his diagnosis came a support group online of 110 other ADNP families (and counting) who we call our “ADNP tribe.”
In an attempt to find the best medical care for Roly we reached out to The Seaver Autism Center for Research and Treatment, as ADNP is thought be one of the rare genetic syndromes related to autism.
At the Seaver Autism Center we were met with open arms by a truly professional clinical and research staff interested and invested in our son and his development and quality of life. His evaluation provided us with the ability to get him more apporiate services to help him meet his milestones. We have also found another “home” for our son and our family as the Seaver Autism Center has opened its doors to helping Roly and other ADNP families in finding possible alternative treatments to help with this intellectual disability that affects our children in all different ways due to their mutations of the ADNP gene.
We have hit the jackpot! Roly is the luckiest 4-year-old boy to be in the care of the Seaver Autism Center. It is our hope as his parents that we can support the Center to help understand and care for children with ADNP syndrome, as well as other children with syndromes related to autism.
- Genie & Jamie Egerton-Warburton