Meet two sets of parents on a mission to beat an extremely rare disorder threatening the lives of each of their sons. "When Ollie was born, his parents noticed that he started to miss milestone after milestone." Over the course of the next year or so, they kept noticing small abnormalities or differences about him. Parents Michelle and Clint Myers, along with Joe and Adid Silverman, were eventually told that their sons, Ollie and Yanni, were the first to have a rare mutation in the PSMC5 gene, which can affect brain development.
Michelle and Clint connected with Dr. Alfred Goldberg, a Harvard researcher who, back in 1987, discovered a protein complex also involved in Ollie's mutation. "One of the things Dr. Goldberg said was that when he saw Ollie's case, he was surprised that Ollie was alive. Based on his understanding of the mutation, he hadn't anticipated that life could continue in this condition." Despite being in different cities, the two families connected through their doctors. "Adid had reached out to learn more about the work Michelle and Clint were doing with Harvard, and they shared their experiences. It was a relief for both families to find someone who could understand what they were going through."
The families created and are now funding the PSMC5 Foundation to find treatments for their sons and others affected by the mutation. Michelle explained, "My goal, of course, is to find the right medication for our children to help them as much as possible." Yanni and Ollie’s genetic mutation has a similar degenerative effect as diseases like Parkinson’s and Alzheimer’s. "By studying their cases, researchers may gain additional insights into these more common conditions." Although the research is still in its early stages, both families remain hopeful while facing daily challenges. As Adid expressed, "For me, it’s the unknown. I don’t know what will be in 10 years with Yanni, or what the effect of the genetic mutation will be on him."
For more information on Ollie and Yanni’s journey, you can visit PSMC5.org.
