It all begins with an idea.
My Kool Brother was founded with the goal of developing better medical therapies and treatment options for individuals with Koolen-de Vries Syndrome (KdVS). We hope to accomplish this by working directly with researchers and pharmaceutical companies.
My Kool Brother was established in 2021 by Ashley & Dana Point. Their son, Davis, was diagnosed with KdVS in February 2016 at the age of 16 months after several hospitalizations.
Davis was born prematurely at 35-weeks gestation. He was initially cleared by genetics as his microdeletion is not part of routine testing. Throughout his first year of life, he suffered with multiple respiratory infections requiring hospitalizations.
At four-months old he began to fall behind on milestones and began physical therapy. At one-year old he suffered his first seizure which prompted more extensive genetic testing and the final diagnosis of KdVS.
In May 2016, Davis contracted Respiratory Syncytial Virus (RSV) which rapidly progressed to Acute Respiratory Distress Syndrome (ARDS). Davis spent 3 weeks on a ventilator and a month in the Pediatric Intensive Care Unit (PICU).
Despite all the challenges, Davis has grown into a happy and friendly 7-year-old boy. He still faces many challenges including speech delays, hypotonia, partial blindness due to a stroke, permanent lung damage and of course the ongoing threat of seizures.
Koolen-De Vries syndrome is a rare genetic condition caused by partial loss of part of chromosome 17 [17q21.31 microdeletion], including the KANSL1 gene. It can also be caused by a change in the KANSL1 gene. These genetic changes can cause developmental delays, learning difficulties, and create possible health concerns. However, individuals vary, both in the degree to which they are affected and in other effects.