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t m c » p u l s e | s e p t e m b e r 2 0 1 6 16 hopes that someone, somewhere, might recognize it. Michael Mitchell was lucky. He was referred to Schaaf by a colleague just as Schaaf had linked four other individuals with the MAGEL2 mutation, each of them exhibiting the same physical characteristics. Shortly thereafter, Michael became the fifth per- son in the world to be diagnosed with Schaaf-Yang Syndrome. Finding Your Tribe The importance of a diagnosis cannot be overstated. Families dealing with rare genetic disorders are plagued by frustration, uncertainty, guilt and isolation. By obtaining a name, they gain an answer, and that simple distinction is empowering. However, because many of these conditions are so rare and, in some cases, brand new, physicians are often unable to offer anything comfort- ing or concrete to families seeking information. So families go in search themselves. "I think there's a paradigm shift in medicine and science in general," Schaaf said. "The paternalistic approach has really come to an end. It's not just us as physicians telling people what to do. It's more of a team effort now." When Lace Mitchell scrolled the internet looking for a support group for moms of kids with Schaaf-Yang Syndrome, nothing came up. So she decided to create one. "God put it in my heart and I started the page without a lot of information, just with the idea that this was for families to con- nect," she said. It has morphed into a main page, intended primarily for I hear it over and over again, how places like Facebook are a lifeline because it is a way to connect with other families. — CHRISTIAN SCHAAF, M.D., PH.D. Investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital Christian Schaaf, M.D., Ph.D., investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and assistant professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, in his lab. general information about Schaaf-Yang and current clinical studies, but it is supplemented by a private Facebook group where parents communicate more openly. Like Harper's "Moms of Trach Babies" group, these parents use the private page to post personal photos, share the nitty gritty details of their experiences, and seek advice. Today, there are close to 60 members. For a rare and newly identified genetic disorder, that is considered robust. In fact, for many of the members, it was finding the Facebook group that helped them make a diagnosis in the first place. Lace Mitchell is active on the page, updating it frequently and openly sharing her son's experiences with the community. It is the exact kind of support she had yearned for all those years. Michael has exceeded all expectations, and it's inspiring to the families in the Facebook group to hear his story: how he loves