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.
After more than three years of blood tests, MRIs and spinal taps, she finally got an answer: Heather has ARSACS, or autosomal recessive spastic ataxia of Charlevoix-Saguenay. It’s an inherited, slowly progressing form of ataxia, which is a neurological condition that often affects coordination, balance, speech and gait.
Most neurologists wouldn’t have thought to diagnose Heather with ARSACS because her symptoms didn’t match – the disease usually presents in the Canadian region of Charlevoix-Saguenay within the first 10 years of life. Heather was in her late 30s, still able to walk, and lives in Metro Detroit.
“Heather has a mutation of the same gene, but she didn’t start developing symptoms until her 30s,” Dr. Shakkottai says.
Genetic testing was the only way to find out what was making walking, and sometimes talking, difficult. Heather’s ARSACS was discovered through exome sequencing, a novel and relatively cost-effective way to survey all genes and look for mutations in any gene that could result in an inherited disorder of balance. And there may be other people with the same mutation who have different symptoms.
“It’s so nice to finally have an answer,” Heather says. “At the same time, it’s also frustrating to have such a rare disease since there are so many unknowns on the progression and treatment. Much of science and awareness efforts are so focused on the big stuff.”
ARSACS is so rare here in the U.S. that we don’t know the incidence, but U-M currently has just a few patients diagnosed with it. In the Charlevoix-Saguenay region of Quebec, it’s still rare but more common, with an estimated one in 1,500 to 2,000 people affected.
“The reality is, it’s probably not as rare as we thought it was,” Dr. Shakkottai says. “Recognizing what condition a person is dealing with is really important from a therapy development standpoint, so we’re doing the right things to treat our patients.”
Right now, Heather takes daily medication to manage her symptoms, and tries to stay active with a tricycle, leg braces and physical therapy. She sees Dr. Shakkottai at least once each year for now. Heather will probably need a walker soon, and eventually a wheelchair as the ARSACS continues to progress.
“The rate of progression for ataxias is a good predictor of how they’ll continue to be. I’m pleased that Heather’s had slow progression so far,” Dr. Shakkottai says.
“Everything is tougher with ataxia, from getting dressed to brushing your teeth to eating and shopping,” Heather says. “The great thing so far is I have no pain.”
Take the next step:
- Get involved: Support important ataxia research at U-M
- Learn more about our general research fund, used to fuel research on many rare diseases
- Learn about the Ataxia Clinic at the University of Michigan Health System, part of Clinical Neurosciences
Vikram Shakkottai, M.D., Ph.D., is assistant professor of neurology at the University of Michigan and director of the Ataxia Clinic. He completed his medical training at Christian Medical College Hospital, obtained a Ph.D. at the University of California, Irvine, followed by a residency at Barnes-Jewish Hospital. Dr. Shakkottai’s research interests focus on ataxia and other movement disorders.