Contributor: Ann Poorboy
I’m guessing most of you have heard of MS (Multiple Sclerosis) or MD (Muscular Dystrophy), but I’m also guessing that not many of you have heard of MG (Myasthenia Gravis). MG is a rare, debilitating neurological disorder. The first time I heard about MG was in 1989. I had just moved to North Carolina from Ohio when someone close to me was diagnosed with it. She’s still with us thankfully, and she’s one of the reasons why I’m so passionate about rare disease. If you knew her then, you would know this gorgeous fiery redhead that raced around in her mustang convertible. It was a much different life for her then than it is now. Life was fun and supercharged with energy, then suddenly, it wasn’t.
All of a sudden there were these vague complaints. Crushing fatigue, muscle stiffness, weakness, and weight gain. There were 11 visits to neurologists who told her nothing was wrong with her, and it took seemingly forever before she was diagnosed. Like most rare diseases, physicians aren’t familiar with the signs and symptoms of MG.
In my daily life, every minute of every day matters to our team, because we know how much it matters to the people living with rare disease.
One of the things you don’t consider when living with a rare disease, is that just having the disorder is exhausting – even before the symptoms. Your body is fighting for equilibrium even if you think you’re resting. With MG, this is especially true. One of the core symptoms of MG is significant muscle weakness. Suddenly, every little thing becomes a little more difficult. How many daily activities do we truly take for granted? Opening our eyes, chewing/swallowing, speaking, lifting your arm, climbing a few stairs, become marathon events of exhaustion. Everything is a little more difficult, and every day that passes makes it just a little more difficult than the day before. And, in some refractory MG patients, they may endure a “myasthenic crisis” where they have difficulty breathing. This is often accompanied by a severe infection. Some of the common symptoms of Myasthenia Gravis include:
Ptosis – this is where your upper eyelid loses strength and begins to droop
Double vision – most patients with MG experience this symptom from time to time
Dysphagia – this is a symptom where patients have difficulty swallowing, patients sometimes end up regurgitating their food into their nasal cavity as they attempt to swallow. Difficulty chewing is another related symptom
Facial weakness can make it difficult for patients to hold their mouth closed, or get both sides of their mouth to rise when attempting to smile, and some patients face partial facial paralysis
Speaking is another challenge for patients with MG. Some patients experience a voice change, others have slowed or slurred speech
General muscle weakness is the hallmark of MG, and while the symptoms may seem harmless at first, they can become serious over time. That’s why it’s so important for patients to be diagnosed early. While there is no cure, there are therapies that can help these patients maintain some of their equilibrium longer. Some medications can actually exacerbate the symptoms of MG including:
Penicillamine, among others
In addition to the fatigue you feel as a person, you also feel a lot of patient fatigue. Patient fatigue is that phenomena where you are literally sick and tired of being sick and tired, especially when your physician doesn’t have any answers. It’s a daunting realignment of a person’s daily routine and these patients need their physicians to cheer them on and help them rally to a better quality of life. But often, the physicians don’t know that there are therapies available that can help these patients. In business we’re always taught to have a sense of urgency. For us, it doesn’t get more urgent than knowing people truly need to be found, and their physicians need to be reminded of rare diseases and the symptoms because inevitably, we find they are treating patients who have these rare disorders.