I am one in 8,333 people who has Facioscapulohumeral Muscular Dystrophy (FSHD). So is my son, and so was my father. World FSHD Day 2017 is on June 20, and this day is meant to raise awareness about FSHD, as one of the most common types of muscular dystrophies.
When I tell people that I have Muscular Dystrophy, they often get confused and refer to it as Multiple Sclerosis. Partly due to inability to pay attention, but also because I am mobile and still have a good range of physical motion. Surely I must not mean Muscular Dystrophy! Sometimes that’s just easier to say than Facioscapulohumeral (FSHD). That’s a mouthful.
Facioscapulohumeral Muscular Dystrophy is a genetic muscle disease that causes wasting of skeletal muscle in the face, shoulders, and upper arms. While these are the most commonly affected areas, the legs and torso also seem to be affected in some people.
In 2002, at the age of 46, my father had a heart attack that left him bed ridden for two weeks. Before that, he was able to walk, though he often fell. It wasn’t uncommon for him to fall in the bathtub and break a rib, or fall on the floor and be stuck there for hours, refusing offers of help when I came home from school.
After the two weeks in bed, he completely lost his ability to walk and had to use a scooter or wheelchair in order to navigate the world. He lost his ability to dress himself, and over time to feed himself.
Not everyone with FSHD progresses the same
Manifestation of FSHD symptoms can happen anywhere between infancy (which is rare) and late life, with most being diagnosed in their 20s and 30s. It varies in severity for each person and the progression of the muscle loss happens very slowly.
At age 9, just a few years after my father had been diagnosed, my mother noticed a few concerning symptoms. I’d never been able to whistle, had a trademark funny walk, and lordosis. We saw a geneticist but were told there was really nothing they could do but wait and watch, so I never saw anyone again until adulthood when symptoms started showing up and I started living with daily pain.
On World FSHD Day 2017, the researchers, doctors, patients and families of those with FSHD will come together to spread awareness about it. Being told “There’s nothing that we can do” can be frustrating when you’re living with chronic pain. Raising awareness and funds for research helps those of us with the disorder to feel acknowledged and heard when the results show what we’ve been telling our practitioners.
Symptoms are not universal and vary
While I knew what to look out for because of my father’s history, many have never heard of FSHD and have no clue what the symptoms to look for even are. The FSH Society lists the following symptoms on their website:
Symptoms or signs can (but don’t always) include:
- inability to whistle;
- inability to sip through a straw;
- eyes that don’t close fully during sleep;
- difficulty with sit-ups and pull-ups;
- shoulder blades that “wing” out;
- difficulty raising arm above shoulder height;
- foot drop (foot dorsiflexion weakness);
- difficulty walking, climbing stairs, or rising from a seat;
- weak lower abdominal muscles, protuberant abdomen, “Beevor’s sign”;
- curved spine (lordosis).
Individuals with FSHD, particularly with more advanced or severe cases, can also experience:
- episodes of “malaise” or “burning pain” in muscles;
- severe pain from changes in posture and strain on remaining muscles;
- chronic fatigue;
- respiratory insufficiency (potentially life threatening);
- symptomatic hearing loss
- Coats’ disease (symptomatic retinal vascular disease), though this is rare
What causes FSHD, and how is it diagnosed?
FSHD is a genetic disease. I’m one of the smartest people I know, but genetics isn’t my thing. I’m going to do my best to explain this, but please read directly from the source here.
According to the FSH Society, 30% of all newly diagnosed cases of FSHD are spontaneous, with no family history of the disease.
There are two types: Type 1 and Type 2. 95% of those affected are Type 1, which means that the disease present is is linked to deletions of D4Z4 units on chromosome 4. The remaining 5% are Type 2 patients. They do not have a deletion of the D4Z4 units and a majority of these cases present mutations to a specific gene (SMCHD1) within chromosome 18. Despite this, both variations present the same in patients and appear to be the same disease.
Genetic tests, creatine kinase levels, nerve conduction studies, electromyographies, and muscle biopsies (no longer common) are the methods most likely to be used in diagnosis. Most likely, a primary physician or neurologist will look at results from multiple tests in order to come to a diagnosis.
My father was diagnosed in the late 1980s/early 1990s and had a muscle biopsy. My son was diagnosed in 2011. Because I knew my father had it, I knew what to look for. We used this visual information, as well as the family history and genetic test to aid in a diagnosis.
How is FSHD Treated?
There is no cure for FSHD. There are no pharmaceutical treatments specifically indicated for the disease. Depending on severity of the disease, there are a few options for making life easier and decreasing pain.
The Muscular Dystrophy Association lists treatment options as: surgical (stabilizing the shoulder blades by attaching to the ribs); Orthotic instruments such as back-supports, corsets, girdles, and lower leg braces; exercise (studies have shown that moderate exercise is ok and will not worsen deterioration).
Chronic pain is commonly reported by those I’m in Facebook groups with, and something that I live with every day. Normal activity can leave me exhausted, with a burning pain that radiates throughout my arms. Clothes shopping is brutal because the repetitive motion of moving things on a rack makes my muscles ache and burn.
I won’t even go into actually trying on clothes as well, and crying every time I see my “When are you due?” belly caused by lordosis.
(**Special reminder!! Unless you see a baby’s head dangling between a woman’s legs or have been explicitly told by the person that she is pregnant, it is not ever ok to comment on a woman’s belly. I’m not pregnant, I just have an unfortunately excessive inward curvature of my spine.)
How can I help raise money or awareness about FSHD?
Donating to an FSHD specific fundraiser is the best way to make sure that your funds are directed for FSHD research. There are a number of fundraisers currently going on in support of World FSHD Day 2017.
While the Muscular Dystrophy Association does work with various muscular dystrophies, FSHD research does not often receive as much funding as other forms, even though it is one of the most prevalent types.
Donate, raise awareness, attend a fundraiser, or just share information. The FSH Society has TONS of great information and resources on their website, with lots of great ideas if you’d like to set up your own fundraiser.
I am hopeful that there will be a cure, or at least more treatments available in my lifetime.
World FSHD Day 2017 Fundraiser
Want to donate now, before you forget? It’s easy! Just click the donate button above and help me reach my goal of $500 in celebration of World FSHD Day 2017 on June 20.