The Ataxia of Friedreich (AF) is a neurodegenerative disease that is not understood and of which few people have heard. For the 300 to 750 Canadian and Canadian who live with this daily health problem – and for their loved ones – misunderstanding makes an even more trying diagnosis. Here’s what you need to know about it.
Posted at 3:00 p.m.
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What is the Ataxia of Friedreich?
It is a rare disease that affects coordination, mobility and other vital functions. The first symptoms often appear from childhood or adolescence, in the form of balance and coordination problems. These disorders are gradually worsening according to the evolution of the disease.
Hereditary, this disease is recessive, that is to say that it only develops in the presence of two faulty genes. A child whose two parents have the responsible gene has around 25 % risk of developing the disease.
In the absence of clues, parents are generally carriers of the gene responsible for the disease without knowing it. It is something unexpected.
François-Olivier ThébergeManaging Director, Ataxie Canada
François-Olivier Théberge himself carries the problematic gene, just like his spouse. The couple had no idea until their son presented first symptoms, ten years ago.
A silent evil … and mortal
Although the Ataxia of Friedreich first resembles a minor awkwardness, it is a serious disease that will gradually affect reflexes, mobility, the use of speech, sight and other essential functions. Over time, it can worsen certain health problems, such as diabetes and cardiovascular disease, and greatly reduces life expectancy. People with it live on average only 37 years.
The more the disease manifests at a young age, the faster the trajectory towards disability.
Dr Massimo Pandolfoneurologist, McGill University, and team leader who discovered the AF gene in 1996
Although the disease remains incurable, research has led to the development of new treatments to slow down its progression and reduce symptoms.
Consciousness for faster diagnosis
The genetic screening of the Friedreich ataxia is not very widespread; It is therefore difficult to assess how many people carry the gene in question.
Symptoms of the disease can be similar to those of other neurological disorders, which complicates its diagnosis. “The first symptoms can take the form of frequent falls, changes in calligraphy or articulation problems,” explains the Dr Pandolfo. It is easy to wrongly believe that these are movement disorders, multiple sclerosis or even delay in the development of the child. »»
Due to these challenges, several series of tests must often be carried out before receiving a fair diagnosis.
Although it is relatively accessible, the screening for the Ataxia of Friedreich is not very common; It is specifically necessary to make the request.
Dr Massimo Pandolfoneurologist, McGill University, and team leader who discovered the AF gene in 1996
As a parent, François-Olivier Théberge believes that his instinct must be trusted and demand genetic screening in case of doubt. “Parents might wonder if it is part of their child’s normal development, or if something is wrong,” he says. In our case, after our family received the diagnosis, my brothers took a test to check if they were also carrying the gene. »»
Live with the Ataxia of Friedreich
François-Olivier Théberge and his spouse undertake to fully enjoy life alongside their son, now a teenager. “It is possible, but it is difficult to ignore the challenges that the Ataxia of Friedreich has occasion,” said the father. As a teenager, you want to go out with your friends, play sports and everything that is common at that age, but ataxia affects almost everything. »»
This parent is held occupied, in particular in its role of management within the organization Ataxie Canada, to promote research and offer support for people living with the disease, as well as their loved ones. “I am an engineer, so I tend to think of solutions,” he says.
As for family life, it focuses on the essentials.
We do what we can, while we can. We take full advantage of each day and the time spent together. We do not wait for the perfect moments; We create them ourselves.
François-Olivier ThébergeManaging Director, Ataxie Canada
