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Spread holiday joy with a gift to the Neuromuscular Research Support Fund at UC San Diego Health
$29,480
Goal: 50,000
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Your Support this Holiday Season Can Help Find a Cure for Desminopathy and Bring Hope to Patients Like Parker Mayorgas
Parker’s Story
The holiday season is a time to show gratitude, give thanks and spend time with loved ones. It can be an especially meaningful time for individuals and families struggling with health issues, like the Mayorgas family, whose son Parker has a very rare neuromuscular disease called recessive desmin myofibrillar myopathy.
After years of questions, Parker was diagnosed with this extremely rare disease in 2019, when his skeletal muscles weakened and he experienced early heart failure. In 2020, at the height of the pandemic, Parker was in acute heart failure. He spent nearly three months at Rady Children’s Hospital-San Diego undergoing multiple lifesaving heart procedures and surgeries before receiving a new heart on Halloween. Four years later, his heart is healthy, but his skeletal muscles continue to weaken.
The Hope at UC San Diego
Fortunately, Parker has a talented and caring neurologist who has identified his genetic mutation and is working on a treatment that could stop the muscle degeneration in its tracks. Chamindra Laverty, MD, and her team are working on a targeted gene therapy for patients like Parker. They are treating cells in the lab to determine whether the cells can synthesize the desmin protein. They are also preparing to test the treatment on mice that don’t have the gene that makes desmin. If successful, this gene therapy could treat all patients with recessive desminopathy.
Dr. Laverty is also seeking to conduct a natural history study in all desminopathy subtypes at UC San Diego. This is a data-gathering clinical trial on the effects of desminopathy in a broad swath of patients that tracks the progression of muscle weakness and its effects on breathing and the heart. This is a crucial step, as medication and interventional clinical trials typically fail due to knowledge gaps about the disease. Gathering this much-needed data now will allow us to stay one step ahead in our efforts to develop an effective treatment.
How You Can Help
This promising, novel research depends upon you. In spring 2024, an amazing community of people who support Parker and his care team helped us to raise $27,130 – more than half of our year-end goal of $50,000! If we succeed meeting our target, Dan and Melissa Mayorgas have agreed to a $10,000 match, which will provide Dr. Laverty with at least $60,000 to continue her research into desminopathy.
Join us in giving the gift of hope for a healthier future for Parker and others with desminopathy with a donation to the Neuromuscular Research Support Fund at UC San Diego Health.