Why seek genetic testing for Facioscapulohumeral muscular dystrophy?

Even without treatment, a diagnosis is therapeutic

By Asifa Lalji (from her article in the FSH Watch Newsletter Spring/Summer 2015)

When the Canadian provincial government of British Columbia decided it would not provide national health insurance coverage for genetic testing of FSHD, it triggered this response from a constituent. She raises important arguments that could apply equally well to physicians and insurers elsewhere who do not recognize the medical need for genetic testing.

The guidelines around out-of-province genetic testing state that it can be approved if “the genetic information is medically necessary, as the genetic information may significantly alter current medical treatment for the beneficiary.”

I can tell you unequivocally that an accurate diagnosis of FSH muscular dystrophy is crucial in managing the disease, symptoms, and the quality of life for the patient.

I was diagnosed with FSHD many years ago, and it was covered by the Medical Services Plan (MSP). I was diagnosed when I was 21 after years of misdiagnoses. Those years were filled with confusion, self-doubt, depression, low self-esteem, and increased pain, as I was unable to manage the disease because I didn’t understand what was wrong with me.

I can vividly recall the day I was told about my diagnosis. I was in the neurologist’s office when he told me I had FSH muscular dystrophy. I felt the weight of the world off my shoulders; I was so relieved. After years of being told there was nothing wrong with me or that I was lazy, I finally had a name for my disease.

My neurologist gave me a number of options and resources for managing this disease, which as you know currently has no cure. But knowing what I had empowered me to research what I could do to improve the quality of my life, make decisions around family planning, my career choices, and gave me a support group and research community to understand this disease and what the implications were.

Based on the neurologist’s recommendations, I did undergo a surgical option (scapular fusion) to help improve my mobility. I also qualified for assistance with occupational therapists once I had an official diagnosis.

The genetic testing for diagnosis is not experimental. It is absolutely necessary in managing this disease, and our neurologists conduct diagnostic testing for people showing symptoms.

I know the government and MSP have to make choices. But I think it’s important to note that this test has been funded until very recently. According to neurologists, BC is now the ONLY province in Canada that does not fund this test. The provincial genetics lab was funding this test until about two (2) years ago. What has changed? Why is FSHD no longer tested?

The policy also states that out-of-country testing would be considered if the tests are not available in Canada.  As I understand from our neurologists, “provincial genetic labs seem to ‘choose’ which genetic tests they run (maybe based on individual expertise in each lab); this test is not available within British Columbia. However, we are able to diagnose far less common muscular dystrophies in BC, simply because our provincial lab is able to do those tests (i.e., oculopharyngeal muscular dystrophy). There is no more treatment available for these less common muscular dystrophies than there is for FSHD.”

Why can’t testing be done for FSHD when it is the most prevalent form of muscular dystrophy, when the lab can test for other types of muscular dystrophy?

Neurologists have to make individual requests for funding for an FSHD test on each patient. They tell me that the requests have consistently been rejected on the basis that it will not alter treatment. I can tell you from my personal experience (and medical professionals would agree), treatment and medical care are more than just drug therapy. Having a specific diagnosis for one’s symptoms is therapeutic; it is life altering.

It may also help to note, from a neurologist’s perspective, there are a number of implications and long-term costs of not being able to diagnose people showing symptoms, including:

• increased anxiety in those patients, which may lead to additional use of healthcare resources and multiple consultations with specialists trying to get an answer;
• invasive and unnecessary muscle biopsies, which may lead to misdiagnosis and treatment with immunosuppressive drugs that are 1) expensive, and 2) have significant side effects (muscle biopsies in FSHD often demonstrate inflammation which is misinterpreted as being an autoimmune myositis);
• recommendations to screen patients regularly with echocardiograms, EKG, and pulmonary function testing (this is what we recommend in patients with myopathies without a specific diagnosis, as we have no idea if their myopathy will affect cardiac and respiratory systems).

If FSHD could be confirmed, we would not do routine screening, as the heart is not affected in FSHD and the respiratory system is sometimes affected (and we can identify those FSHD patients who are at high risk for respiratory impairment). Thus, access to genetic testing should save money long term.

I believe we have met the criteria of the Medical Services Commission for out-of-province and out-of-country medical care, and that this cost (currently paid by the patient) should be covered by MSP. If those who are responsible for this policy need further evidence, I would appreciate and welcome the opportunity to have our medical specialists in FSHD meet with you and your team.

Thanks again for taking the time to review this information. I look forward to hearing from you soon.

Editor’s note: As of now, the provincial government of British Columbia still does not provide national health insurance coverage for genetic testing of FSHD.