Growing up, Lisa Dilworth knew her family was different from others. She first realized the seriousness of her mom’s illness when her mom was hospitalized and wasn’t able to be home for Christmas. Her grandmother moved in and helped take care of her and her siblings, then 3, 4 and 5.
“My mom never scared us but never sugar-coated it either,” says Lisa. “Her disease never once made me angry; it just made me want to learn more and to do something about it.”
Lisa’s mom, Linda Hied, has Myasthenia Gravis, or MG, a chronic, autoimmune disorder that affects voluntary muscles. MG is often referred to as the “rag doll illness” because it causes patients to have muscle weakness. The body’s immune system attacks itself and weakens the muscles that help control the eyes, face, throat, limbs, and even the muscles which help us breathe. Without treatment it can be life-threatening. For Linda, the disease meant that it often prevented her mother to participate in family activities like bike rides and hikes. But Lisa says that never discouraged her mom.
“She encouraged us to do things like this and when we returned from an activity she was always right there with snacks, a smile, a warm hug and anxious to hear about our adventures even if that meant we had to climb into her hospital bed to do it,” she says. “This was our normal, and eventually you forget that other kids don’t have the same experience.”
Lisa says her family has always been close – not because of her mom’s disease, but in spite of it.
“We very much choose not to give the disease that much power,” she says. “We think it’s very important to acknowledge that a disease is just something you have, not something that you are.”
Watching her mom battle MG has always been a source of inspiration. Despite the surgeries, wheel chairs, countless hospital visits and myasthenic crises her mom never complains and stays focused on a better future.
“I admire my mom more than anything,” Lisa says. “She is a fighter. I admire her strength, her courage, grace, and her commitment to finding a treatment. My mom has never shown any signs of fear or defeat in her battle. She loves to talk to other MG patients and listen to their stories and share her experiences in hopes of comforting them. She also continues to try new off-label treatments or enroll in clinical trials.”
It probably comes as no surprise that Linda inspired her daughter to do what she does today—work on clinical trials. Lisa is Director of Therapeutic Expertise, Rare Diseases at PRA Health Sciences.
“It’s the only reason I went into this job. I was originally planning on going to medical school to be a neurologist because I wanted to treat patients like my mom,” says Lisa. “I saw the impact physician bedside manner had on my mom and I wanted to be one of the ‘good doctors’ who listened and cared because those few physicians she had who listened and cared about every single symptom she experienced made the biggest impact. But then, when I started working for my mom’s physician while an undergrad, I realized that the research was critical. I wanted to be a part of that. I witnessed first-hand how much hope patients found through participating in clinical trials. It was the perfect match for me.”
In MG, the body produces antibodies that most commonly target acetylcholine (AchR) receptors on the surface of the muscle cell. These antibodies block the receptor where signal to contract should be received and also activate the complement pathway which causes muscle cell destruction. Additional antibodies are found in MG such as antibodies to muscle-specific receptor tyrosine kinase (MuSK).
What are the symptoms?
Common symptoms can include drooping eyelids, blurred and double vision, slurred speech, difficulty swallowing, chronically fatigued muscles, limb weakness and difficulty breathing.
Who gets MG?
MG is considered a rare disease. It is estimated to impact about 14-20 out of 100,000 individuals in the US although it is likely under-diagnosed. MG does not spare any gender, race, or age. While the underlying cause of MG is still not understood, it occasionally occurs in more than one member of a family.
How is MG currently treated?
Before treatment was available, 70% of MG patients died, mostly due to pulmonary complications. Now, with treatment, the mortality rate of MG has been reduced. However, most medications have not been studied in controlled clinical trials of Myasthenia Gravis patients and therefore the use of many of these drugs is off-label.
Current treatment for MG aims to manage symptoms and avoid the likelihood of a myasthenic crisis, a life-threatening manifestation of the disease.
What does the future hold for MG patients?
The Myasthenia Gravis community is committed to finding a cure for this debilitating disease. Through clinical trials there is hope of better understanding the disease and hope for a cure.
Possible new agents with a variety of mechanisms of action are currently planned for clinical trials. Some approaches include an aim to target the complement pathway, a subcutaneous route of immunoglobulin, monoclonal antibodies, and a therapeutic vaccine. There is also a MG registry study currently open.