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Ataxia, Neurogenetic Condition – Briar’s Story

 

When Mickey Sampson saw her 3-year-old girl daughter, Briar, struggling to walk, she said she didn't wait for a referral. “I heard good things about Boys Town. I called the office myself and explained the situation…and that's when we started getting assigned with Dr. Lulla."

Dr. Dinesh Lulla, pediatric neurologist and neurogenticist at Boys Town National Research Hospital, started treating Briar, who had suffered from attacks of vertigo, dizziness and balance issues for more than a year. She had seen multiple doctors who attributed her symptoms to chronic migraines, but migraine treatments were ineffective. 

“This family came to see me, and initially, it was the mother who was very suspicious that something genetic was going on," said Dr. Lulla.

The little girl's father also had been having similar attacks since he was 20 years old.

After genetic testing, it was discovered that both father and daughter shared a rare form of genetic disease that could cause ataxia attacks (loss of balance, trouble walking and loss of coordination). After six months of treatment, episodes have gone from multiple times per week to once every few months.

“I think it's a big sigh of relief for our families to just have an answer for a rare condition," said Dr. Lulla. “This puts an end to their long diagnostic journey."

Briar's Story - Episodic Ataxia​

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Patient Story