January 31, 2024. Ashley Young knew her son Michael (a pseudonym) was different as soon as he was born. Not only was he small, but he also struggled to suckle and suffered from severe acid reflux.
When he was a toddler, local doctors in Asheville diagnosed him with cerebral palsy, a neurological disease that affects movement and is the leading cause of childhood disability in the United States, according to the National Institutes of Health. The diagnosis, however, never sat right with Young.
In 2019, Michael’s neurologist told Young about the Undiagnosed Diseases Network, a National Institutes of Health research study that works to identify and develop treatments for the most mysterious and rare medical conditions.
She immediately sent in an application for Michael, who was accepted and examined in Durham at Duke University Medical Center, one of 12 UDN sites across the country, in September of that year.
Tests revealed that Michael has a genetic disorder so rare it does not even have a name yet. According to his genetics counselor Rebecca Spillmann, only about 40 are known cases worldwide.
To treat his multiple intellectual and developmental disabilities (IDDs), Michael has an extensive care team, most of whom are at Duke. The team includes a physiatrist, or muscle doctor; nephrologist; endocrinologist; cardiologist; developmental doctor who also serves as his neurologist; psychiatrist; and a genetic counselor.
And most of the time, they see him via telehealth.
“Telehealth has been a great asset to us,” Young said. It allows Michael’s doctors to follow up on him without the nearly 200-mile trip to Durham, a journey that Michael finds very distressing.
Thanks to telehealth, Young has even spoken to the physician at Mount Sinai in New York City who researches the gene variant related to her son’s disorder.
Children like Michael are some of the most vulnerable patients in Western North Carolina, and telehealth allows him to live in his own community while receiving the medical care he needs.
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