Heidi Epstein, Trustee and Monica Coenraads, Executive Director of the Rett Syndrome Research Trust spoke about their organization, the impact of Rett syndrome & recent research findings, and the trust’s fundraising activities. Both Heidi and Monica are parents of daughters with Rett syndrome, and Heidi’s daughter Hannah is our club President Teree Bergman’s granddaughter.
      Rett syndrome is a rare genetic neurological disorder effecting one in ten thousand children, primarily girls, and effects most aspects of the child’s life and necessitating 24/7 care. More than 15,000 families in the US and 350,000 families worldwide have been effected by this disorder.
       Although there is not yet a cure, research has come pretty far, in part thanks to the Research Trust’s initiatives. A specific gene has been identified as the root cause, and the disease has been found not to be neurodegenerative and potentially reversible when the appropriate treatment has been established. Animal models have closely matched the human version of the disease, and current research is focused on correcting the root cause. An upcoming gene-therapy human clinical trial by Novartis will be the first to address the root cause, and there is other gene-editing research underway. Using gene therapy, it is currently practical that a single gene disorder like Rett syndrome can be targeted.
      The Rett Syndrome Research Trust is the most lucrative Rett syndrome fundraiser in the world, having raised $ 70 MM since starting their operation in 2008. Although they raised more than $ 1.5 MM last year, their current fundraising activities are being somewhat impaired by the pandemic. Many donors are Rett syndrome effected families and their networks.
      Our club members asked many questions about the disorder and its research, effects on the children and their families, and were truly inspired to the core by Heidi and Monica, both as Rett parents and for their fundraising accomplishments that are fueling the groundbreaking research to cure this rare disorder.