If you believe you may have FSHD, it is important to have your diagnosis confirmed by a doctor – even if you know that FSHD runs in your family and can confidently identify the symptoms.
Misdiagnosis and diagnostic delay for FSHD is common. People with FSHD often say they had to seek advice from multiple specialists before finding one who recognises their symptoms and tests for FSHD. Other conditions frequently confused with FSHD include multiple sclerosis, fibromyalgia, polymyositis, or chronic fatigue syndrome.
Getting a diagnosis can help you to seek FSHD-specific medical information, and plan for your future. Once you have genetically confirmed your FSHD, you may wish to see a genetic counsellor to help your family identify whether other members are at risk of having the disease, and guide you through any family planning decisions.
Having a formal diagnosis confirmed by a genetic test is also important, should you wish to register to take part in a clinical trial, and possibly to qualify for future approved therapies if they become available.
In Australia, the National Disability Insurance Scheme (NDIS) can help with things like therapy and personal care, but you need to apply prior to age 65, so a timely diagnosis is important. People with FSHD who have had mild symptoms throughout adulthood sometimes find that aging results in increased disability, so early planning is critical.
When you first discuss FSHD with your doctor, the first step is usually a physical examination to look for patterns of muscle weakness. The doctor will ask you about your family and medical history. They may test for other conditions that cause similar symptoms, and organise tests such as blood tests, MRI scan, ultrasounds, or neurological tests.
If your doctor diagnoses you with FSHD, the next step is to identify what genetic mutation(s) you carry in your DNA, and so whether you have Type 1 or Type 2 FSHD. Genetic testing is carried out using a blood sample.
In Australia, there is now a Medicare-funded blood test available that must be ordered by a neurologist, so please speak to your treating specialist about this. FSHD Global Research Foundation also provides a free saliva research test, in partnership with the Peter and Takako Jones Lab in Reno, Nevada, USA. This simple saliva kit is sent directly to you at your home, which you can complete and return to the lab by post. You will be contacted directly by the lab with your results, which you can then take to your medical team for discussion.
This research test is provided to our community as an easily accessible screening tool. We recognise the challenges of accessing specialist care in the public system, and feel that everyone should have the opportunity to understand their body. You can request your saliva testing kit through our Medical Education Portal at https://fshdmedicalportal.org/
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