Michael’s story: Living with Friedreich ataxia

Michael works hard to keep his body moving and functioning as well as it can so that he can continue doing what he loves – playing lawn bowls. As his Friedreich ataxia (FA) condition progressed, Michael transitioned from sports such as golf and cricket to take on the highly competitive activity of lawn bowls.

FA is a genetic, debilitating and life-shortening neuromuscular disease, affecting approximately 1 in 29,000 to 42,000 people.^1,2,3,4Although it is a rare condition, FA is the most common inherited ataxia.¹ Early symptoms of FA, such as progressive loss of coordination, muscle weakness and fatigue, typically appear in children and can overlap with other diseases which can cause a delay in diagnosis with patients under 25 years old receiving an FA diagnosis two years after symptoms first begin to appear (this can range from one to five years).⁵

Michael was first diagnosed with FA when he was 21 years old, thirteen years ago and considers himself lucky that it was identified quickly given his sister Janine had already been diagnosed with the condition.

“My diagnosis was a little bit easier because of my sister. For her and a lot of other people with FA they have to go through a lot of tests, and go to a lot of neurologists, to try and get to the bottom of what's going on, and they'll get misdiagnosed a lot early on as well.”

Following his diagnosis, Michael initially tried to hide his condition, brushing off his lack of balance and leg coordination by pretending nothing was wrong. He puts this down to a fear of stigmatisation with his need to use devices to help him get around such as a walking stick and then a walking frame. He now looks back at that time and would say to his younger self not to overthink it and to just keep moving.

“Even though you've got a disease, it doesn't mean that's who you are. You still get to live your life and to be your own person. You're more than your disease, you're still a human being. Talk to your friends and family, if you're having a hard time with it and be kind to yourself. You don't have to be perfect, at the gym or physio or whatever you're trying to do to keep the body moving.”

Many people with FA use walking aids and often require a wheelchair. Most people will need to use a wheelchair within 10 to 20 years after diagnosis. Other symptoms of FA include vision impairment, hearing loss, slurred speech, aggressive scoliosis, diabetes mellitus, and serious heart conditions.¹

The management of FA requires a multi-disciplinary approach with a range of healthcare specialists involved.¹ Michael sees a neurologist, geneticist, occupational therapist, physiotherapist, cardiologist and ophthalmologist and feels very fortunate to be able to see them all in one day at an organised clinic for people with FA.

“I go to the clinic once a year and it's of really great benefit for people like me who live in regional Victoria and those people further away from Melbourne, to be able to just go to one appointment and have all these specialists in the one room.”

Michael’s love of lawn bowls motivates him to keep his body as fit as possible and it’s this passion that has delivered him a couple of premierships at his bowling club, Ballarat North. He goes to the gym and does Pilates multiple times a week and credits his support team with keeping him mentally positive and up for the challenge.

“I've had to change and adapt as my disease has progressed but that's the beauty of lawn bowls - old or young, disabled or able-bodied it doesn't matter - anyone can get involved. When I'm out on the green and still able to perform at a reasonable level, all the hard work I put in is worth it. It’s use it or lose it.”