Chris Hunsburger explained that his daughter Penny was diagnosed with Selenon Related Myopathy over a year ago, noting severe developmental delays. "She never learned to crawl; she only ever learned to scoot while lying on her back," he said. This degenerative condition started showing symptoms early, resulting in significant muscle weakness and the inability to partake in normal activities like rolling over or standing without falling.
Dr. Alan Beggs discussed the implications of Selenon on early childhood development, describing the rigid spine and scoliosis as characteristic symptoms. "If untreated, the condition can cause the body to bend over, severely impacting mobility and quality of life," he explained, highlighting that respiratory insufficiency is common, and many patients may require breathing assistance.
The Hunsburger family has initiated Penny's Promise, aiming to raise $100,000 for research at the Beggs Laboratory at Boston Children's Hospital. "There is no known cure or treatment for Selenon, which is why we are so passionate about funding research," Hunsburger said. The family's efforts reflect their commitment to finding solutions for this ultra-rare disease as well as raising awareness.
Hunsburger also mentioned the significant daily struggles Penny faces, stating, "She often has to sleep with a BiPap machine because her breathing would slow so much that she was doing damage to her brain. She was waking up with debilitating headaches every day." This highlights the severity of Penny's condition and the urgent need for medical advancements.
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