Friedreich’s Ataxia: Understanding a Rare and Devastating Disease

Friedreich’s ataxia is a rare, progressive neurodegenerative disease that affects coordination, mobility and other vital functions with the first signs often emerging during childhood or adolescence. Early symptoms of FA start with balance and coordination issues and the symptoms get progressively worse as the disease advances.

Although the disease is inherited, it’s a recessive genetic disorder, so families often have no clues of being at risk until someone is diagnosed.

“Parents are typically silent carriers, so it’s not something that’s expected,” says General Manager of Ataxia Canada, François-Olivier Théberge. “It often comes as a surprise.”

Theberge himself is a carrier of the FA gene, along with his wife. However, the couple had no idea until their young son began to experience FA symptoms a decade ago. “It’s a strange and confusing feeling to hear your child is diagnosed with anything, let alone a rare disease that will profoundly impact their life. And yes, when the diagnosis is confirmed, it’s devastating.”

The silent, deadly risk

But it’s not just the shock of a child’s FA diagnosis that feels so shattering. 

Although FA can look like mild clumsiness at first, it’s a progressive disease that goes on to affect the reflexes, mobility, speech, vision and other basic functions. Over time, it can contribute to other health problems such as diabetes and heart disease, and shortened life expectancy—on average  only 37 years of age.

“The vast majority of cases are late childhood or adolescent onset. The earlier the onset, the more rapid progression to disability,” says Dr. Massimo Pandolfo, leader of the team that first discovered the FA gene in 1996 and a neurologist at the Department of Neurology and Neurosurgery at McGill University.

While there is currently no cure for FA, dedicated research efforts are resulting in the emergence of new treatments aimed at reducing symptoms and slowing progression. 

Better awareness for timely diagnoses

Because genetic testing for FA is not routine, it’s difficult to assess how many people are carriers. But if both parents carry the FA gene, there’s an estimated 25 per cent chance their child will develop FA. In Canada, around 300 to 750 people are living with the disease. 

Since FA symptoms may resemble those of other neurological conditions, it can be difficult to diagnose. “Early signs can include frequent falls, changes in handwriting and slurred speech,” says Pandolfo. “These symptoms can be mistaken for other movement disorders, multiple sclerosis, or even developmental delays.”

This diagnostic challenge means patients often go through multiple rounds of testing before receiving an accurate diagnosis. “FA testing isn’t routine,” Pandolfo says. “You have to specifically ask for the test for the FA mutation. But it’s relatively available—you don’t need to send it to a highly specialized lab.”

Theberge says as a parent, it’s important to listen to your instincts and request testing if you think something might be wrong. “Parents might question if it’s just a normal part of being a kid, or if there’s something else at play,” he says. “In my case, following the FA diagnosis in my family, my three brothers got tested to see if they were carriers of the gene.”

Life with FA

Theberge says his teenage son—and his whole family—are dedicated to living their most fulfilling lives together. “It’s possible,” Theberge says. “But it is hard to ignore the challenges that come with FA. As a teenager, you want to go out with friends, run, practice sports, and do all the things that are typical for that age. Ataxia impacts nearly all of that.”

For Theberge, he stays busy by being involved, including the work he does leading Ataxia Canada to promote research and support for individuals and families living with the condition. “I’m an engineer so I tend to look for solutions,” he says. 

When it comes to his family life, he‘s focused on what matters most “We’re doing the things we can while we can,” he says. “We live life to the fullest every day, making the most of the time we have. We’re not waiting for magical moments, we’re creating them.”

For more information about FA, visit Ataxia Canada.