Girls Chronically Rock was birthed out of the need for community after I was diagnosed with Muscular Dystrophy a few years back. A rare diagnosis, only affecting about 50,000 Americans, I realized many people don’t quite know what MD is. Before my life had to make room for it, I didn’t know what is was either. In honor of Rare Disease Day (today!), let’s answer some of the common MD questions:
What is muscular dystrophy?
Contrary to popular belief, muscular dystrophy is a series of muscle diseases that causes the weakening of the skeletal muscles over a series of time. The patient’s body has a mutation, some abnormal genes start to interfere with the production of proteins needed for the body to generate healthy muscle.
There are no external causes of Muscular Dystrophy. Internally, it comes about when certain genes in the body are mutated, causing the production of proteins in the body to generate healthy muscle fibers.
Once a person has the mutation, MD can become hereditary. Those with a family history of the disease are at a higher risk of developing the disease or passing it along to their children.
What symptoms should I look out for?
According to Healthline, our bodies house more than 650 skeletal muscles. Therefore, Muscular Dystrophy can impact a very large portion of the body in different ways.
Those who have not been previously diagnosed, they may want to check in with a doctor if they have any of the following symptoms:
- Difficulty walking
- Difficulty with use of arms
- Limited mobility
- Difficulty breathing
- Heart problems
- Difficulty swallowing
Depending on the type of MD, a person can have a difference in severity, number, locale and onset of symptoms.
What types of Muscular Dystrophy are there?
We currently know about nine types of MD, but there are six that are most common. Each type contains slightly different genetic mutations and are altered depending on the subtype, if applicable.
- Duchenne – The most common type of MD, this type usually occurs in young boys between birth and the age of two.
- Becker – Most similar to the Duchenne type, Becker MD mimic the symptoms but progresses much slower and tends to be milder in nature. Those with this time usually don’t experience symptoms or diagnoses until their mid-20’s or later.
- Myotonic – Those with myotonic MD are majorly affected in their face and neck muscles. They have an inability to relax muscles after contractions and often experience drooping faces and eyelids and necks that resemble swans’.
- Facioscapulohumeral (FSHD) – Shoulders and hips are first to be affected with this type of muscular dystrophy. Shoulder blades tend to stick out like wings when the arms are raised.
- Congenital – This type of MD impacts boys and girls between birth and the age of two. It can vary from a mild disability to a severe impairment.
- Limb-girdle – Onset of this type of MD typically occurs between childhood and adolescent years. Hip and shoulder muscles weaken first, followed by drastic difficulty with lifting the front part of their feet, their arms, and legs.
What about me?
When I was 24, just finishing up my MBA program, I was hit with an onslaught of symptoms. I had increasing difficulty with moving my legs and lifting my arms. Pangs of pain happened more frequently. And I was falling left and right. It was stressful and utterly confusing trying to assess if it was my weight, or maybe something wrong in my brain. It certainly couldn’t have been my age – I hadn’t even made it to my quarter life yet.
Many doctor appointments later, I was diagnosed with limb-girdle muscular dystrophy. Many years and additional doctor appointments past, I’m still unaware of my subtype. Currently, MD doesn’t have a cure, but can be managed with personalized care plans that incorporates medications, breathing apparatuses, physical therapy, home health-aides (to help with feeding, make up application, bathing, etc.), and transport aides. In my years of dealing with this, I’ve been trying to enroll in trials to see if I could gain insight about my subtype and maybe even get closer to helping finding the cure, but to no avail.
Trials are tricky. They can either help solve the problem or cause a slew of others, making the participant even sicker than they were before. It’s risky business. So I continue to trend lightly, making sure to take notes and the advice of my doctors, be transparent and honest with my home health aide and doing what I can to manage my self-care and positive emotions.