Watching Over Patients With Angelman Syndrome
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After geneticists at Mayo Clinic's Rochester campus diagnosed her son, Bo, with Angelman syndrome 14 years ago, Stephanie Hays found that there wasn't much help for her and her son back home. "None of the practitioners in the Twin Cities had even ever heard of Angelman syndrome because it's so rare," she says. "So we were told to just hunker down and get used to it." They were also told that they "just needed to learn how to deal" with Bo's symptoms, she says, and that they were "basically on our own" in finding resources for managing the disease.
And for many years, they did just that. But for parents like Stephanie, watching your child suffer the effects of a disease for which there is no known cure can be, to put it mildly, distressing. "Any parent of a special needs child will tell you it is a very lonely life, and it can be that way for a long time for a lot of families," she recently told KAAL-TV.
Fortunately for Stephanie and other families like hers, Mayo Clinic's Rochester campus recently became home to the newest of three Angelman syndrome clinics in the country. The clinic was established by Mayo Clinic with support from the Angelman Syndrome Foundation. Its sole purpose — according to a post on Mayo's Individualized Medicine blog — is to better meet the "comprehensive medical needs" of Angelman patients like Bo, along with their families, by giving them access to "multiple subspecialists and a variety of medical resources in one setting."
The clinic's director, Mayo neurologist and geneticist Ralitza Gavrilova, M.D., says the new clinic will expedite the medical evaluation and treatment of patients with Angelman syndrome and provide a "tailored treatment plan" families can take back home to their primary care providers. "We provide each patient and family with a team of experts," she says, and that team develops a plan "tailored to each patient's needs."
And for that, Stephanie, who attended the clinic's grand opening ceremony with Bo, says she couldn't be more thankful. "All these years we've sort of been living without hope and just kind of dealing with the symptoms," she says. "And so we're just so grateful for the level of research that's now being done and for the clinicians at Mayo who have brought themselves together to form this new clinic for us. Because when you consider how rare Angelman syndrome is, we could have easily become a forgotten population." Not if the folks at the new clinic can help it.
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