Alana Sanderson was hitting her developmental milestones. But when she was 18 months old, her parents noticed she walked pigeon-toed, with her feet turning inward. Three years later, she couldn’t walk at all.
Her worried parents consulted orthopedic specialists and a neurologist, but none of them had answers. Finally, a doctor referred Alana to UVA Children’s, about two hours away from the Sandersons’ home in Christiansburg.
When pediatric neurologist Amal Abu Libdeh, MD, saw Alana, she suspected dopa-responsive dystonia, or Segawa disease, a rare genetic movement disorder. Abu Libdeh prescribed Sinemet, a medication often used in Parkinson’s disease. Three days later, Alana began walking again.
Genetic testing confirmed the diagnosis. Alana continues to take the medication. She’s resumed practicing karate and hopes to also play soccer and baseball. You can read her full story in the summer issue of Vim & Vigor, our family health magazine.
More Highlights from the Summer Vim & Vigor
You also won’t want to miss these stories.
Surviving a Severe Brain Injury
19-year-old Alex Fear fell from a second-story window and hit concrete, fracturing his skull. Paramedics airlifted him from Harrisonburg to UVA’s neuroscience intensive care unit.
Neurosurgeon Mark Shaffrey, MD, says only around 2% of people make a full recovery from such an injury. Further complicating things, Alex also developed accurate respiratory distress syndrome, which causes fluid buildup in the lungs.
But after weeks of struggling to breathe and growing frail, Alex came out of his coma. That wasn’t the end of his recovery, though.
Read more about Alex’s brain injury.
What You Need to Know About Stillbirth
One in every 100 pregnancies in the U.S. ends in stillbirth. This means the baby dies before birth or during delivery more than 20 weeks into the pregnancy. Stillbirth is more common than infant death, including sudden infant death syndrome (SIDS).
Understanding the signs of a baby in distress increases the chances of survival. Donald Dudley, MD, says to consider calling your doctor if you don’t feel at least five movements from the baby in 30 minutes. If you’re high-risk, don’t call — go straight to the emergency room or your doctor’s office.
Learn more about stillbirth risk factors.
Read the Full Issue
Read these stories and more in the summer 2020 Vim & Vigor
A Research Study to Help Keep Athletes Safe
Hypertrophic cardiomyopathy (HCM) causes an abnormal thickening of the heart and can cause sudden death at any age. It’s often the reason behind death in high school and college athletes.
Experts are launching the most comprehensive HCM study ever, hoping to gain insights that will lead to new treatments. The $14.4 million study is looking at more than 2,750 patients at 44 sites in six countries.
Get more details about the HCM study.
