Meanwhile, Gg started school and learned to parry the inevitable and sometimes hurtful questions of other children: Why are you so slow? Why can’t you run or jump? What’s wrong with you?īy 2013, doctors had largely decided that Gg probably had a form of myopathy, a disease affecting muscle tissue that has a wide variety of causes. It was a lonely and largely fruitless search. unable to sleep, and spend the next three hours on her computer “trying to put together the puzzle.” She scoured the Internet looking for other children whose disorder matched Gg’s, but found none.
![little girls with muscle little girls with muscle](https://thumbs.dreamstime.com/z/happy-girl-flexing-muscles-half-body-portrait-young-dress-hat-bicep-muscle-rocky-landscape-background-34482899.jpg)
Many nights, she said, she would awaken at 3 a.m. “And I was trying to be as involved as I could, trying to figure it out.” “Everyone at this point is suggesting everything,” Silva recalled. Some urged more invasive testing - a torturous experience for Gg and Silva, who said that the little girl was terrified of needles. His advice was diametrically opposite that of specialists in Washington who suspected Gg had a rare but as yet unidentified genetic disorder. One prominent specialist in Baltimore seemed unconcerned about Gg’s delayed development and diagnosed “benign congenital hypotonia” - essentially, low muscle tone present at birth - and assured them she would outgrow it. If Bönnemann took an interest in her case, Gg might be accepted into a study and could receive a diagnosis, something that had so far proved maddeningly elusive.īut her parents felt increasingly whipsawed by contradictory advice.
![little girls with muscle little girls with muscle](https://www.faceofmalawi.com/wp-content/uploads/2017/05/masclar.jpg)
That way, one of the world-renowned researchers in attendance, preferably Carsten Bönnemann, chief of the neuromuscular and neurogenetic disorders of childhood section at the National Institute of Neurological Disorders and Stroke, could meet her. When Silva replied that Gg was at the pool, the woman advised Silva to get the little girl to NIH - and fast. Silva, who had learned of the event only that morning, was mingling with participants when a parent-advocate asked, “Where’s your daughter? Why isn’t she here?” Once a year, specialized neurology researchers and families affected by a constellation of rare neuromuscular disorders get together, a confab that is both supportive and aimed at furthering research. Woodward had taken Gg and her older brother Elian to the pool while Silva, hoping to meet researchers and network with knowledgeable parents, was attending a 2014 meeting at the Clinical Center, the research hospital on the grounds of the National Institutes of Health, a few miles from the family’s home.
![little girls with muscle little girls with muscle](https://images-wixmp-ed30a86b8c4ca887773594c2.wixmp.com/i/ad814c36-27df-4888-bbef-e600453ce219/ddzdcbq-32b1f89d-e9c1-4223-9593-d20e886580b8.jpg)
She believed that the couple’s long-running quest for a diagnosis of their daughter Gabriela, known as Gg (pronounced “Gigi”), then 7, hinged on the little girl’s presence. “You have to bring the kids here - right now,” Silva remembers insisting. Elena Silva gripped her cellphone, struggling to convey a sense of urgency to her husband, Brian Woodward, whose response was drowned out by the background din of a suburban Maryland swimming pool on a steamy July afternoon.