Courtney ’s story: Piecing together a genetic puzzle

Courtney Whitmore was born 22 years ago with a cleft palate, two clubbed feet and fists that were so tightly clenched they couldn’t be pulled apart. Since Courtney was an otherwise happy and healthy baby, neither her parents nor her doctor saw cause to be concerned about these seemingly unrelated conditions. What they didn’t realize was that these were the first clues to a genetic puzzle that would take ten years to unravel. The next clue came at age 3. “One day my dad and I were playing peekaboo, and suddenly I couldn’t see,” says Courtney. “My parents rushed me to the hospital and the doctors discovered both my retinas had become detached.” Courtney had already lost vision in her right eye, but the doctors were able to save the vision in her left eye. Then, at the beginning of second grade, Courtney started having severe back pain. “It was so bad that I wouldn’t go outside to play with my sisters,” says Courtney. Her parents brought her to an orthopedic specialist at a Boston hospital. He diagnosed her with grade 4 to 5 spondylolisthesis, a condition where the vertebrae in the back are out of place, and recommended immediate surgery. “It was so severe that he couldn’t believe I was still able to walk.” A second opinion and a puzzle Courtney’s parents decided they wanted a second opinion. They took her to see Dr. Lawrence Karlin,an orthopedic surgeon at Boston Children’s Hospital. Court...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories brain aneurysm Cardiovascular Genetics Program Cerebrovascular Surgery and Interventions Center Dr. Darren Orbach Dr. Lawrence Karlin Dr. Pedro del Nido Dr. Ronald Lacro Loeys-Dietz syndrome Source Type: news

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