Rare disease patients often face a long, complicated, and frustrating journey to the right diagnosis and treatment. Ally Trainor, a 21-year-old student at George Mason, is no exception. She has presented symptoms of her condition, autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), since she was 16 months old and did not receive a diagnosis until this year. Now she, along with her family, are pushing for more research into ARSACS.
ARSACS is a rare, progressive, neurodegenerative disorder that is characterized by damage to the cerebellum, peripheral neuropathy, and a pyramidal syndrome. Symptoms typically appear between twelve and 18 months of age, beginning with trouble walking and an odd gait. A major symptom is spasticity, in which the muscles stiffen and cause issues with movement and speech. Other effects include issues speaking, nystagmus, retinal hypermyelination, bladder dysfunction, peripheral neuropathy, and pyramidal syndrome. All of these symptoms are the result of an autosomal recessive mutation in the SACS gene. Diagnosis comes after CT scans, MRIs, nerve conduction studies, and an examination of medical history. Genetic testing can be used for confirmation. Treatment is symptomatic and focuses on reducing spasticity.
Ally’s first symptom appeared when she was sixteen months old, as she was delayed in meeting milestones and was unable to walk. In fact, she couldn’t walk until she was nearly two years old.
To address these concerns, her mother, Betsy, began searching for answer through doctor visits, tests, and research. Despite the numerous physicians and specialists that they saw, the only thing that doctors could tell the Trainors was that Ally had a smaller than normal cerebellum.
Despite this lack of diagnosis, Ally continued to go to school and develop both physically and intellectually. While she could never play sports and had trouble with physical activities like running and getting changed, she has a positive personality and a great sense of humor. Still, it was difficult to face challenges and not have a name for what causes them.
It was not until three years ago that Betsy found someone who could help. Dr. Jeremy Schmahmann, a neurologist from Boston, had performed research that connected to Ally’s symptoms. Unfortunately, when Betsy sent her daughter’s medical records to his office, she did not hear back. She called every three months for three years, until Dr. Schmahmann finally responded in August.
Through a tele-health visit, the doctor noticed an abnormality in Ally’s MRI and suggested a possible diagnosis: ARSACS. Genetic testing officially confirmed this on September 29, almost two decades after Betsy began searching for answers.
Now that Ally finally has a diagnosis, the Trainors are turning their efforts towards research. They have found a lab in California that wants to help with ARSACS research, but they need help to fund it. Rare disease research faces many challenges, with funding being a major one. To help, you can make a donation here.
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