\n\n\r\nWhat's Wrong With Me?\r\nThe patient: Kelly (name has been changed), a nine-year-old girl\r\nThe symptoms: Uncontrollable muscle contractions\r\nThe doctor: Dr. Mary King, pediatric neurologist at Temple Street Children\u2019s University Hospital in Dublin, Ireland\r\n\r\nKelly was a bright, busy toddler. But in 2011, when one of the then 18-month-old\u2019s feet began to turn inwards, her parents became alarmed enough to consult a doctor, especially as the condition slowly spread. Over the next couple of years, both Kelly\u2019s legs twisted painfully and she needed support to walk. When the muscle contractions spread to her hands, they tightened into fists and she could no longer pick up her toys or hold a spoon.\r\n\r\nCheck out 50+ more health symptoms you should never ignore.\r\n\r\n\n\n\r\nSearching for Answers\r\nThroughout that time, specialists in England, where the family lived, had few answers. They told Kelly\u2019s parents she had dystonia, which meant her muscles were continually going into spasms, but they couldn\u2019t pinpoint the cause. Repeated brain scans, lumbar punctures, blood tests, urine tests and genetic tests all came back normal, and yet Kelly was clearly getting worse.\r\n\r\nCheck out the scientific explanations behind weird body reactions.\r\n\r\n\n\n\r\nWhat is Progressive Dystonia?\r\nProgressive dystonia is practically unheard of in a healthy child. It can be caused by a physical abnormality in the part of the brain that controls movements, but the tests ruled that out. Meanwhile, drugs that often help dystonia symptoms, such as levodopa and baclofen, did nothing; all Kelly\u2019s medical team could do was treat her discomfort with painkillers and muscle relaxants. By age four, Kelly\u2019s condition had spread to her neck and facial muscles, and she could no longer speak.\r\n\r\nRead the incredible true story of a woman whose lower back pain turned out to be a rare kidney disorder.\r\n\r\n\n\n\r\nA Genetic Mutation\r\nDr. Mary King works with Irish patients who have very rare genetic diseases. Since Kelly has Irish herit\u00adage and was coming to Dublin to visit relatives, King was consulted on the case. She decided to analyze the child\u2019s genome as part of a Genomics Medicine Ireland project she was involved in, which aims to get insights for better treatments by studying people\u2019s genetic material. King enrolled Kelly and had her blood drawn. An analysis was ready within a few months. It was King\u2019s colleague who spotted the anomaly in Kelly\u2019s profile\u2014she had a mutation in a gene known as KMT2B. \u201cWhen I looked at it, I knew that was probably the answer,\u201d says King. The mutation, which is not inherited, had been identified by other researchers less than a year earlier, and had been shown to cause progressive dystonia.\r\n\r\n\n\n\r\nRisky Treatment\r\nEven better news for Kelly was that a number of patients with the same genetic mutation had responded well to deep brain stimulation (DBS). In this surgical procedure, electrodes are implanted into the brain to stimulate neurons that aren\u2019t firing normally. \u201cIt\u2019s like a pacemaker. It\u2019s almost a rebooting of the neuro surface of the brain,\u201d King explains. DBS isn\u2019t typically tried with children, but it was Kelly\u2019s best chance for recovery. King immediately called Kelly\u2019s doctors in England\u2014and was shocked to learn the young patient was in the hospital\u2019s intensive care unit in a state of constant severe muscle contractions. She was being fed through a tube in her stomach and using a ventilator to breathe. \u201cHer parents were desperate, wondering if she was going to survive,\u201d says King. Without a moment to lose, the British team put her into surgery for DBS.\r\n\r\nRead the incredible true story of a woman whose "nagging headache" turned out to be a stroke.\r\n\r\n\n\n\r\nLife-Saving Technology\r\nIn the days following the procedure, the change in Kelly was dramatic. \u201cWithin a couple of weeks, she was out of bed, sitting up,\u201d says King. The positive progress continued as Kelly\u2019s brain cells formed reconnections and she gradually regained her ability to move. In November of 2017, Kelly said her first word in four years: \u201cMama.\u201d Today, Kelly can eat and ride a tricycle. The nine-year-old has regular physiotherapy and it may take up to two years to see the maximum benefits of DBS, but her doctors hope she\u2019ll have few, if any, symptoms by then. There\u2019s no question the high-tech surgery has rescued the future of this lively little girl.\b\r\n\r\nNext, get to know the\u00a0under-diagnosed diseases\u00a0that doctors are most likely to miss.