After four years of tests and appointments with seemingly every specialist in the Salt Lake Valley, Shauna and Brook Bingham felt no closer to finding out what was causing their young son Tosh’s serious speech, cognitive, and behavioral delays. There were tears, sleepless nights, and hours wondering what the future held for Tosh. “To not know what’s wrong with your child is challenging in so many ways,” says Shauna.
Then, last fall, Tosh was selected to be part of the Penelope Program, University of Utah Health’s pilot program for undiagnosed and rare conditions in the Department of Pediatrics. The program works to provide answers and set patients on a path to an integrated care plan. After sequencing the Bingham family’s DNA, the medical mystery was solved. Tosh was diagnosed with an extremely rare spontaneous change in one of his genes that affects how a part of his brain works, in particular its ability to control gait, muscle coordination, and speech. Doctors developed a care plan of intense speech and occupational therapy, and are now working to better understand this condition and pave the road for more effective treatments. Shauna and her family were ecstatic to find a cause, and they also discovered an incredible support network. Tests were done at no charge, which is the case for all enrolled in the Penelope Program, and now, even after diagnosis, the doctors are still passionately involved in helping Tosh. With her son in treatment, Shauna felt compelled to help others who also were caring for a child with an unknown malady. Using her fundraising experience, she established the Tunes for Tosh 5K and Family Fun Run. On April 29, more than 300 people arrived at Sugar House Park to support children like her son. Shauna says the event was a success because of its namesake—Tosh.
Running around and riding his bike at the event, Tosh made people laugh and cry. “His love for life helped people embrace the love and laughter of the day… People want to be around him and to support him in any way possible,” says Shauna. After the fun run, the Bingham family presented the proceeds from Tunes for Tosh to Dr. Lorenzo Botto, director of the Penelope Program, and the team who helped in Tosh’s diagnosis. Through the Penelope Program, the $14,300 gift will benefit other families and patients like Tosh. “We are humbled by and grateful for the support and passion of Shauna and the Bingham family,” says Dr. Botto. “With support such as this, we can help more families discover the roots of mysterious conditions, make a comprehensive care plan, and pursue new treatments. This is the future of medicine.” Shauna and her family have committed to hosting a Tunes for Tosh Family Fun Run annually.