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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 15 "It honestly makes me feel better thinking, 'OK, we went through all that heartache, but maybe we can help someone else,'" Wiegand said. "It gives you a peace in your heart." Building Bridges On June 7, 1997, nearly seven years before the launch of Facebook, Sona Mehring set up a social media platform, although she didn't know it at the time. She had been asked by two close friends to share health updates about their daughter Brighid, born prema- turely that day. After two emotional phone calls that lasted 45 minutes each, an exhausted Mehring decided there had to be a better way, and so CaringBridge.org came to life. "It certainly eased the burden of telling people what was going on," Mehring explained, "but the wow factor was the ability to bring together that community when everyone needed it most." Today, more than half a million sites have been created on CaringBridge. Advertised exclusively through word of mouth, the non-profit's free, user-friendly appeal lies in its capacity to rally support for a loved one while sharing important, often difficult, health news. Users create a site and share their unique link with friends and family; they set their account to be as private or as public as they feel comfortable and update with news and photos as often as they wish. In turn, people visit the page for new infor- mation, posting well-wishes and words of encouragement. Each page is a virtual living room, a place to go for comfort and kinship. "Being able to connect with your friends and family no matter where they are, whether they're across the street or around the world, is healing," Mehring said. That's not just a hunch. Numerous studies have shown that social ties enrich lives and play crucial roles in health and longevity. A 2010 study published in the journal Plos Medicine found that a lack of connections can be so detrimental to health that individuals with strong social relationships had a nearly 50 percent increased likelihood of survival compared to those without. Mehring recounted a story about a woman who called to tell her that CaringBridge helped save her husband's life after he'd been diagnosed with cancer. "He had basically given up and was in a cycle of despair," Mehring recalled. "One day, his wife sat him down in front of the computer and he spent the next three hours reading the CaringBridge site she created for him. He read not only what she had written, but what other people had written. From that moment, his despair turned to hope and his whole attitude and story turned around." Six years later, Mehring was attending a conference when a couple came up and introduced themselves. "There he was," she said. 13 Years When Michael Mitchell was born, his mother knew immediately that something was wrong. Just three years earlier, her firstborn, a daughter, died from a mysterious condition characterized by low muscle tone and contracted fingers—symptoms undeniably present in her son. Physicians ran test after test, but all came back inconclusive. The ambiguity was wrenching. Without a diagnosis, there was no hope for treatment. Without an explanation, nobody could tell the Mitchells what the future might hold. Was this a progressive disease? What sort of therapy might be most benefi- cial to Michael? What was his projected lifespan? "When Michael was younger, we were told that he would not walk, he would not crawl, he would not sit up, he would not, would not, would not," his mother, Lace Mitchell, recalled. And yet, walk Michael did. Without anyone to turn to, Lace and her husband forged their own way, enrolling Michael in various forms of therapy, supporting him and pushing him to try his best, all the while not knowing what his condition was or what they could expect. This went on for 13 years. What finally cracked Michael's case was the development of two genetic tests, considered game-changers in the field: chromo- somal microarray analysis (CMA) and whole exome sequencing. Before these tests, only 10 percent of rare genetic conditions were diagnosed. After, that number climbed to nearly 50 percent. Geneticist Christian Schaaf, M.D., Ph.D., who works as an investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and as an assistant pro- fessor in the Department of Molecular and Human Genetics at Baylor, explained the value of the tests through analogy: If you think of the genome as a library, then the CMA provides you with an inventory of the library; it looks at the number of shelves (read: chromosomes), and counts the number of books on the shelves to ensure there are no missing or extra copies. The exome sequencing test takes it a step further and actually opens the books to check for misspellings (or mutations) in the expressed genes in the genome. In Michael Mitchell's case, the tests revealed a mutation on the MAGEL2 gene. But here's the rub: until another patient was identified with the same genetic mutation and the same observable characteristics, it was all hypothesis, and MAGEL2 was just considered a "candidate gene," a potential cause for Michael's condition. "Nobody has a perfect genetic code; we all have thousands of misspellings or mutations," Schaaf explained. "So the challenge is not so much in generating the data, but in the interpretation." The key for these rare genetic conditions is finding another patient with not only the same mutation but similar physical symptoms as well, thus verifying suspicions that it is that exact mutation on that exact gene that is causing those exact symp- toms. Interestingly, many individuals turn to social media to find a match when a diagnosis cannot be made after testing. Armed with a handful of "candidate genes," they take matters into their own hands, posting their genetic results and details of the condition in When Michael was younger, we were told that he would not walk, he would not crawl, he would not sit up, he would not, would not, would not. — LACE MITCHELL Michael's mother