Every rare diagnosis reaffirms importance of research

Rare Disease Day is Feb. 29

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Heather Hawkins enjoys as normal a life as she can, while dealing with a rare condition called ARSACS.

Every time he treats a patient with a rare condition, Vikram Shakkottai is reminded that these rare diseases might affect more people than we think.

The neurologist and director of the University of Michigan Health System’s Ataxia Clinic has seen a spectrum of symptoms from one patient to the next who have the same diagnoses. It’s why he believes advancing research and genetic testing is so important.

Dr. Shakkottai pursued genetic testing with patient Heather Hawkins, who came to see him a few years ago to talk about trouble keeping her balance. Continue reading