Taking Advantage of Every Moment Life Has to Offer
Living with generalized myasthenia gravis used to mean leading a very restricted life. New options are now changing that.
When Ghassan Akl was 17, he suddenly found himself unable to lift a glass of water. As a very active teenager who worked out at the gym every day, this was unusual. His parents brought him to the hospital where his symptoms were recognized, and after a series of tests his diagnosis was confirmed.
That diagnosis was generalized myasthenia gravis ( gMG), an autoimmune neuromuscular disorder in which the immune system mistakenly produces antibodies that block receptors in the neuromuscular junction — the area where nerve cells connect with the muscles.
A gradual loss of independence
Hallmark signs and symptoms of this rare disease involve fluctuating weakness of the voluntary muscles. “Many different muscle groups may be implicated, resulting in various patterns of weakness,” says Dr. Amanda Fiander, a neurologist at a private clinic called Maritime Neurology in Halifax, N.S. “In addition to arm or leg weakness, possible symptoms may include double or blurred vision, drooping eyelids, slurred speech, difficulty chewing or swallowing, and shortness of breath.”
Akl had most of these classic gMG symptoms. Over the next 11 years, he became increasingly dependent on family members to help him with simple things like going up the stairs. During this time, he underwent conventional immunotherapy treatment, which involved going to the hospital twice a week from 8:30 a.m. to 3:00 p.m. Eventually, as the disease progressed and became more aggressive, he had to stop working and going to school.
Treatment for gMG has remained pretty much the same for the past 50 or 60 years. However, new treatment options are allowing for more effective disease management and an overall improvement in the quality of life for Canadians living with gMG. Since starting on one of them two years ago, Akl has become a different person. “I’m able to train at the gym, run, and be independent again,” says Akl, now 30. He’s currently training to become a barber and recently returned to school.
The importance of recognizing signs and symptoms
Luckily for Akl, because the emergency room nurse recognized gMG, he was put on the right diagnostic track and into treatment very quickly. “Recognition of the disease is essential as gMG can lead to significant disability,” says Dr. Fiander. That can sometimes be tricky since some gMG symptoms may overlap with other neurological disorders or even non-neurologic medical conditions.
In addition to a correct diagnosis, it’s critical that people living with gMG have regular assessments from their health care providers (HCPs) to monitor their disease, something that, according to his situation, Akl does once a year with his doctor. “Given the fluctuating nature of the disease, regular HCP assessments are important to ensure that the treatment approach is both effective and appropriate for the particular individual,” says Dr. Fiander. “Disease symptoms may change over time — and can sometimes do so quickly, requiring a change or adjustment in medication. These adjustments are best made early on, to avoid crisis.”
For Akl, life keeps getting better and better. No longer confined to spending more than 12 hours a week in the hospital, his new regimen requires only a halfhour hospital visit every two weeks. “I’m taking advantage of every moment I have,” says Akl, who is now able to think about longer-term career goals. The medical field is one of the options he’s considering.