I would like to have some information about genetic tests. My mother and my uncle have died from cerebellar ataxia, so I’m thinking to pass a genetic test to know if I’m also a carrier of the disease. However, I do not know how to proceed.

The best way to obtain information is to ask for an appointment with a neurologist. The majority of neurologists know about ataxias. They certainly can guide you in the process to obtain a genetic test. Normally, a competent team of therapists and health specialists should be able to answer your questions. We have already published a list of Canadian neurologists on our website which you will find here: https://lacaf.org/wp-content/uploads/2014/07/Neurologists.pdf

I have ataxia and my neurologist told me that I could be qualified for a tax credit. What does it consist of? Is it possible to reduce my hours of work and have access to a government pension? If so, how do I proceed? 

Your neurologist probably means that you are entitled to a tax credit for people with disabilities. The following pages from the federal and provincial governments explain what you are entitled to and how to obtain it.

Government of Canada : http://www.cra-arc.gc.ca/tx/ndvdls/sgmnts/dsblts/menu-eng.html

Gouvernement of Quebec : https://www.revenuquebec.ca/en/citizens/your-situation/persons-with-disabilities/

For a reduction of working hours, it is your neurologist who will discuss this possibility with you. Ask your employment center if you can compensate for your loss of earnings as a result of this reduction of working hours.

The Régie des Rentes du Québec can tell you what you are entitled to for disability pensions.

Egibility : http://www.rrq.gouv.qc.ca/en/invalidite/definition/Pages/admissibilite.aspx

Additional amount for disability : http://www.rrq.gouv.qc.ca/en/invalidite/vivre_invalidite/regime_rentes/montant_additionnel_invalidite/Pages/montant_additionnel_invalidite.aspx

Can stem cells be a solution to ataxia? 

Stem cells are used for different treatments with varying degrees of success, even if they have been known for over 50 years. Unfortunately, this is not a miracle cure valid for all diseases. They are often used as a last resort when treating cancer: http://www.cancer.ca/en/cancer-information/diagnosis-and-treatment/stem-cell-transplant/?region=qc

For diseases, such as ataxia, the use of stem cells isn’t possible to treat these. A treatment of ataxia requires to correct a genetic mutation present not in a single human tissue or organ, but rather in all the cells of the human body.

 I would like to know what services can you offer to an ataxic person who has difficulty speaking and loss of balance?  

A typical situation of an ataxic person with loss of autonomy often requires the help of local CLSC services. It is difficult to predict what will happen with the person, since the disease progression may vary from person to person. There are more than sixty known ataxias and there are probably several hundred different types. We can certainly put the person in touch with a network of ataxic people.

 I am looking for a support group in Canada, but outside the province of Quebec. Are there support groups in other provinces?  

First, here is a little context of ataxias.

Currently, there are at least 60 identified types of ataxia and they are all different in terms of evolution, symptoms, severity, etc. It is possible to say that 90% of people living with ataxia have not received an accurate diagnosis. Among rare diseases, ataxias are an important group. In a vast and sparsely populated country like Canada, it is extremely difficult to maintain a support group of people with different ataxias. For example, Friedreich’s ataxia, a recessive ataxia (the most common of all ataxias), can be develop among children of very young age (3 or 4 years) whose life expectancy is shorter, while other people will develop this ataxia around the age of 30 and even later.

The evolution of ataxia differs from one ataxia to another, so it is difficult to create a support group with people as different. However, it is important to develop and maintain links with people living with or without ataxia. Facebook can be a good social media to get in touch with other people who live with ataxias. Nevertheless, it is sometimes easier to share interests, common hobbies than a specific disease. Living with ataxia is not the end of life, it is important to continue to achieve life goals. Ataxia Canada insists that people living with ataxia must continue to have hope and enjoy every moment of life.

For psychological or physical support, it is possible to ask your neurologist to have access to a psychologist, a physiotherapist or an occupational therapist. However, accessibility to the health care system differs from one province to another. Quebec, for example, is currently experiencing significant cuts by the provincial government in the social system and the health care system. People with disabilities in Quebec must therefore rely on themselves, their families and then on government assistance.

In addition, you can get more information and a list of the different resources that could help you with these two organizations:

Canadian Organization for Rare Disordes (CORD) : https://www.raredisorders.ca/

Regroupement Québécois des Maladies Orphelines (RQMO) : http://rqmo.org/

 What is the best way to be diagnosed for Friedreich’s ataxia? Is it the DNA test?  

A neurogeneticist is a person who can guide you in this identification process of hereditary diseases. Your local university hospital is the place to go for genetic testing. Your neurologist may also request for a genetic test.

 I am a physiotherapist and I have a patient living with ataxia whose evolution seems very slow. A doctor examined him, but the he couldn’t give an accurate diagnosis on the source of his motor disorders. My patient would like to get a second opinion. Would you be able to recommend neurologists to whom his family doctor could refer?  

It is possible to say that at least 90% of people living with ataxia have not received an accurate diagnosis. The majority of people have a diagnosis of spinocerebellar ataxia or spinocerebellar atrophy, which in itself doesn’t mean much.

Dr. Antoine Duquette of the Hôpital Notre-Dame in Montreal is a very dynamic neurologist who could most definitely help your patient. Here is his profile: http://www.chumontreal.qc.ca/patients-et-soins/nos-medecins/antoine-duquette

Dr. Bernard Brais, Co-Director of the Neuromuscular Research Group of the Montreal Neurological Institute and Hospital, and Director of the CHUM Ataxia Center, is also a neurologist who is interested in different cases of ataxia. Here is his profile:
https://www.mcgill.ca/neuro/research/researchers/brais

However, it is important to mention that these two specialists in ataxia are in high demand.

 I am looking for help for my mother (52 years) suffering of Friedreich’s ataxia. Her proprioceptive center, her energy, her concentration and her speech are the major functions affected. Would you have references from competent professionals in rehabilitation or institutions in Montreal offering personalized services? 

The Lucie-Bruneau center is the most adapted institution to provide specialized care to individuals living with ataxia. Your mother’s neurologist should invite her to make an appointment with therapists working at this institution. The neurologist should even recommend activities that take place under supervision at the same center. The collaboration of the family doctor and especially the neurologist is essential to have access to the Lucie-Bruneau center.

For home care, you must go through the services of the CLSC in your area.

 I am suffering from ataxia, probably the ARSACS, I’m waiting for the results of my blood test. My doctor is referring me to you for more information, opportunities to talk with other people living with ARSACS, to find moral support and other. I am 32 years old and I accept the disease and its constraints with difficulty.

In addition, my CLSC does not offer many services because I am living in a small village. There are 2 years of waiting for physiotherapy in the nearest hospital. There is also the option of physical fitness training (gym) but in terms of value for money, it does not suit me. So, I do not have many options left, and that’s why I’m turning to you. 

Here, in Montreal, there are, as probably in Quebec City and a few large cities where there are university health centers, rehabilitation centers, such as Lucie-Bruneau ( https://www.ciusss-centresudmtl.gouv.qc.ca/nos-installations/centre-de-readaptation-en-deficience-physique-sensorielle-langage-auditive-et-motrice/installation-lucie-bruneau/ ). Your doctor could certainly guide you to both physical and moral resources. For example, he can certainly prescribe you indoor training sessions under the supervision of a physiotherapist or kinesitherapist. In addition, your CLSC should, at a minimum, provide you with help of an occupational therapist to assist you in your daily activities.

There are people with ARSACS in our network and they will probably be available to discuss with you. Since the types of ataxia are numerous, it would be good if you first confirmed the type of ataxia you have by doing a genetic test.

The Association remains always available to assist you. Information on the Association can be found at https://lacaf.org/en/ ; See the “About Us” tab. The services offered are reference services for the needs of ataxic patients. It’s important to understand that the organization never received money from the government for its activities. All income comes from donations and bequests. The Association belongs to its members. Despite this, Ataxia Canada-Claude St-Jean Foundation has contributed more than $ 15 million in present value to medical scientific research since its founding.

Unfortunately, the Association has no income to finance the individual needs of people with ataxia. In fact, ataxic people are much more numerous than you can imagine. There are many needs, but resources are very limited.

 What is ataxia SCA8?  

It is a disease with cognitive deficit and psychiatric disorders. You can find more information on these websites:

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98760

https://www.ncbi.nlm.nih.gov/books/NBK1268/