Name: Ashley Point
Organizations you represent: President, Koolen-de Vries Syndrome Foundation
What led you to the rare disease community: After 4 hospitalizations for respiratory distress and 1 seizure, we asked for a genetics appointment and our son Davis was diagnosed with Koolen-de Vries Syndrome (KdVS) through a microarray at 16 months old. Davis’s KdVS is caused by a de novo microdeletion in chromosome 17. He was affected by hypotonia, tracheomalacia (causing breathing difficulties), and epilepsy (50% of KdVS individuals have seizures). The breathing issues have resolved, but we continue to see several specialists, including neurology. Davis is a happy and hard-working 6-year-old and just completed kindergarten in a general education room with occasional resource push-ins. He loves learning and is excited for first grade to begin.
What do you think are the areas that are lacking in the community (specific to your org or in general) / What are some of the pain points? As with most rare disease organizations, we lack funding. We are always asking our families for donations to fund our mission of education, awareness and research. I would like to find other sources to fund our goals and support our community. We also believe there are more people with KdVS that have not been diagnosed as the syndrome was only identified in 2006. I want to reach every family that has received this diagnosis, so that they can be as supported as I have been by our incredible KdVS community. Of course, we would always like to have more research to find possible therapies or even a cure for our condition. We need help reaching those researchers and pharmaceutical companies and convincing them to study KdVS and all rare diseases!
What are your areas of expertise? Every experience in my life has led me to the opportunity. I graduated from the University of Kentucky with a political science degree and began working in politics in Washington, DC, Texas and North Carolina. After 10 years of political campaigning, fundraising and lobbying I switched to computer consulting. I decided to pursue my high school dream of becoming a doctor and began medical school. After the first two years, though, I decided to stay home and care for our children. In the less than one year I have been President of the KdVS Foundation, I have learned a great deal of information from all the other amazing rare disease advocates. Everyone I have talked to on the Global Genes Foundation Alliance and beyond has been extremely welcoming, inviting and always available for one more question.