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: http://lacaf.org/wp-content/uploads/2014/07/Neurologists.pdf

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 : http://www.revenuquebec.ca/en/citoyen/situation/handicape/default.aspx

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

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.

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.

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/

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.

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.

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.

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 http://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.

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/

You wrote that your aunt died in 1989 of this disease and upon her diagnosis, the whole immediate family was tested and it turned out that her brother (who is your father) is the carrier of it.

I am wondering how the diagnosis was made at the time, since it was only in 1996 that the gene was discovered and that it was around 1998 or 2000 that the test (based on molecular biology) to diagnose a person with the genetic abnormality of Friedreich’s ataxia has been made available to the entire population.

See the link below:

http://www.ipubli.inserm.fr/bitstream/handle/10608/1267/1999_11_1314.pdf?sequence=3  (Only in French)

In order to know whether you are a carrier or not of the genetic abnormality of Friedreich’s ataxia you should get in touch with a neurogeneticist. This kind of specialist is easily found in any university hospital in Quebec: CHUQ, CHUS, CHUM, McGill, etc. A genetic counselor can also help you.

The medication CATENA was withdrawn by the pharmaceutical company itself on April 30, 2013. This withdrawal followed additional studies that did not confirm the efficacy of the drug as requested by Health Canada. The pharmaceutical company could resubmit the drug to Health Canada, if it can demonstrate the effectiveness of CATENA. You can find more information on the Health Canada website:

http://healthycanadians.gc.ca/recall-alert-rappel-avis/hc-sc/2013/23509a-eng.php

 

There are several financing programs:

If you’re at the university, there are certainly more financing opportunities. You could contact the student support center for more information from qualified staff. These people will be better to guide you in finding scholarships depending on your study field, your needs, etc.

 I would like to know more about the product KEEGO? See the link below: http://www.lapresse.ca/le-soleil/affaires/techno/201406/17/01-4776698-keeogo-de-b-temia-le-dermosquelette-au-service-de-tous.php (Only in French)

I did some research and I contacted Mr. Bédard of B-Temia saying that the product might interest me. I received recently an email response asking me to fill out a form. Under acceptance, a clinician will contact me for an appointment. An evaluation at the cost of $75 will be done at home or elsewhere. Following the evaluation, I will be offered to purchase or rent the device. I will be allocated a trial period that will cost me $300. The price of the device is between $20 000 and $45 000. I would like to know more, because I am not sure that that would suit me.  

First, you are right to be on your guard. A person with ataxia experiences a very different situation from someone who has multiple sclerosis, a spinal cord injury, or lives with muscle weakness caused by trauma or other illness.

The incoordination of movements in ataxia is not due to muscular weakness. Being inactive weakens the muscles, but there is always the problem of coordination that is present in addition to spasticity.

My recommendation is that you seek information about the “Keego (dermoskeleton)” from the Lucie-Bruneau Rehabilitation Center, the Gingras-Lindsay-Montreal Rehabilitation Institute and from Dr. Antoine Duquette, a clinical neurologist at the CHUM. They are the first medically concerned for the use of this device and in practice, they should have evaluated it.

Here are their coordinates:

Lucie-Bruneau Rehabilitation Center : http://www.luciebruneau.qc.ca/fr/para_nav/coordonees/

Gingras-Lindsay-Montreal Rehabilitation Institute: https://www.ciusss-centresudmtl.gouv.qc.ca/nos-installations/centre-de-readaptation-en-deficience-physique-sensorielle-langage-auditive-et-motrice/installation-gingras-lindsay-de-montreal/#c44391 

Dr. Antoine Duquette, clinical neurologist at the CHUM: http://www.chumontreal.qc.ca/patients-et-soins/nos-medecins/antoine-duquette

antoine.duquette@umontreal.ca

Oculomotor apraxia type 2 is a form of recessive ataxia, both parents must carry the genetic mutation to have a risk to potentially give birth to an ataxic child. http://lacaf.org/en/ataxias/formes-and-transmission/recessive-ataxias/

Your partner should take the test to know if he’s a carrier of the genetic mutation. The fact of being of a different nationality doesn’t protect from an hereditary disease.

You should also meet with a genetic counselor as soon as possible. You can contact a counselor via the RQMO (Regroupement québécois des maladies orphelines): http://rqmo.org/tag/conseil-genetique/ (website only in French)

Now, no cure exists for Friedreich ataxia. However, Ataxia Canada is working hard to find one. We hope that the genetic therapy will be a permanent solution for the persons suffering from the severe disease.

And we did important progress during the past years…The Dr. Tremblay and his team succeed to cure a mouse suffering from Friedreich whit the genetic therapy. The next step is clinical trials with humans. You can learn more in the Search section of our website: https://lacaf.org/en/research/projets/

 

Ataxia Canada – Claude St-Jean Foundation is one of the oldest associations working on familial ataxias. Founded in 1972 by Claude St-Jean, our foundation raises funds to help financing the research on ataxias.

  • You could learn more about the organization and our activities by visiting our website: https://lacaf.org/en/
  • You could also follow our activities and connect with the Ataxia Canada community by liking our Facebook page: https://www.facebook.com/ataxie.canada
  • Cerebellar ataxias are very common ataxias within rare diseases, they are dominant ataxias (only one parent has to be carrier). The National Ataxia Foundation (USA) offers several resources on current and future clinical trials: http://ataxia.org/
  • Orphanet is also an interesting resource to learn about the current clinical trials, the disease and available resources : http://www.orpha.net/consor/cgi-bin/ResearchTrials.php?lng=EN

In Ontario, there are many pepole living with a familial ataxia like in Quebec. Internet and social media are good tools to find information and be in direct contact with other persons with this rare disease.

There’s currently no treatment in the world for familial ataxias. There’s many types of familial ataxia (probably more than 400 types) of which only 60 have been clearly identified. Each known ataxia is caused by a gene mutation and it is a different gene for each identified ataxia. Thus, we must develop a specific treatment for each ataxia.

That said, we have made significant scientific advances in gene therapy research by curing a mouse suffering from Friedreich ataxia. The next step is the clinical trial on 9 patients and the foundation is working hard to raise funds to finance the research. You can learn more on our website under the Research section: https://lacaf.org/en/research/projets/

Unfortunately, the therapy with stem cells isn’t efficient to treat this disease. Although, physiotherapists, speech-language pathologists and occupational therapists can help reduce the symptoms: http://lacaf.org/en/ataxias/cerebellar-reeducation/

Unfortunately, it doesn’t seem to have any subsidy program to buy an adapted bicycle for adult with a disability. The only potential subsidies come from the Financial assistance program at the regional administration for the leisure of persons with disabilities.

The financial program pass through these organisms:

  • Les associations régionales de loisir pour personnes handicapées (ARLPH) ;
  • Les unités régionales de loisir et de sport (URLS).

However, it really depends on the regions. For example, it seems that these organizations are focussing only on assistance in terms of accompaniment in the Montreal area.

There are indeed codes that identify the various handicaps of children. This government document defines the different types (starting on page 12 – Only in French):

http://www.education.gouv.qc.ca/fileadmin/site_web/documents/dpse/adaptation_serv_compl/19-7065.pdf

The diagnosis should be made by professionals and it would be difficult to associate a precise code for family ataxia since the symptoms and severity differ greatly from one person to another depending on the evolution of the disease.

The provincial government has developed a guide for parents to provide information about the code system and the process for diagnosing a child:

http://csdm.ca/wp-content/blogs.dir/6/files/EHDAA_FCPQBrochureGuideAccEleve.pdf

There are medications to treat some ataxia symptoms. For example, the Detrol drug helps to control the sudden urges to urinate which happens neurological disease. The Baclofen is a muscle relaxant taken before bedtime to reduce muscle spasms during the night.

Here is what Health Canada says about biosimilar drugs: ” A biosimilar biologic drug, or biosimilar, is a drug demonstrated to be highly similar to a biologic drug that was already authorized for sale (known as the reference biologic drug). ”

Your neurologist should first verify that you already take the most common medications to treat the symptoms of ataxia. However, it is a very good idea to talk to him about the biosimilar drugs that could possibly help you. However, he will have to do a research to find out which drugs are right for you.

Today, genetic testing to identify a type of ataxia known as Friedreich’s ataxia are reliable to almost 100%. Genetic tests exist for probably about sixty identified types of ataxia. There are probably 9 out of 10 people who live with ataxia without having an accurate diagnosis.

I invite you to meet a neurogenetician, a neurologist specializing in genetic disease. We can also refer you specialists.

Ataxias are severe progressive diseases; people living with these diseases must keep hope and an exemplary lifestyle: healthy lifestyles, exercising under supervision of someone who knows the physical limits of ataxic people, a balanced diet, etc. A regular visit to the family doctor is also important to detect other diseases.

Do not hesitate to contact your CLSC for advices from occupational therapists, speech therapists, etc. to obtain more care and resources. You must often insist, but you will see, you will succeed through your perseverance.

 

Ataxia Canada is unfortunately not a health specialist to make this kind of diagnosis. We are specialized in treatment research and support to people with hereditary ataxia.

It is therefore impossible for us to make a diagnosis. It would be important, however, to meet a health professional in a medical clinic near of you.

Ataxia involves not only problems of coordination of movements, but also spasms, stiffness, and muscle pain. Often these people may experience a muscle tear or fracture during their efforts to stay in balance or after a fall. A person who lives with ataxia may also suffer from another disease. Rehabilitation centers like Lucie Bruneau can support a person to maintain his physical state. Ataxia is a rare disease and a large number of medical specialists are often needed to treat different problems. Often, a neurologist may prescribe a muscle relaxant, such as Baclofen, taken before going to bed. Do not despair and ask health specialists to provide you with information.

It seems there’s no serious research done on how this drug can treat the spinocerebellar ataxias that are extremely numerous.

 The European Medicines Agency explains the status of this medication in Europe : “At the time of submission of the application for orphan designation, the evaluation of the effects of ceftriaxone in experimental models was ongoing. At the time of submission of the application for orphan designation, no clinical trials with ceftriaxone in patients with spinocerebellar ataxia had been started. At the time of submission, ceftriaxone was authorised in several EU countries for the treatment of certain bacterial infections, but it was not authorised anywhere in the EU for spinocerebellar ataxia or designated as an orphan medicinal product elsewhere for this condition. ”

Spinocerebellar ataxia is the general formula for naming several forms of progressive ataxia (including AOA1, AOA2, Friedreich’s ataxia, etc.). Spinocerebellar ataxia means “incoordination with damage to the vertebral column and the cerebellum”. Thus, AOA2 is one of these spinocerebellar ataxias.

I invite you to contact a Hospital university in France, a very advanced country in medicine and closer to Algeria. This association http://www.csc.asso.fr/ will guide you towards a genetic test that is done very simply. For the past ten years, there has been a kit of tests to identify an impressive amount of hereditary ataxia from a single blood sample. Talk to your neurogenetician about it.