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How I Found My Life's Purpose With Rare Disease

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I was diagnosed with muscle-specific tyrosine kinase (MuSK) myasthenia gravis (MG) nine years ago. It is one of the rarest and most severe subtypes of MG where most patients experience visual problems, fatigue, trouble swallowing and weakness of the neck or limbs. Despite the often-unbearable parts of living with this condition, it gave me a new purpose in life: to fight for my own health and for those with this rare disease. I vowed to not let myasthenia gravis stop me from living a fulfilling life and became an avid advocate, which has been a meaningful journey but not always a smooth one.

The first symptom I recall experiencing had to do with my eyes. In early 2012, I was taking pictures with friends, and one of them said, “Glenda, open your eyes.” I remember trying to open them but nothing was happening. Then I looked at the picture and realized that my eyes were in fact closed. I went to see my eye doctor, who recommended having my eyes surgically uplifted to correct the ptosis, a condition characterized by drooping eyelids. I had the surgery in early 2013, which caused chronic dry eyes, increased light sensitivity, and made driving difficult.

My eyes eventually recovered, but later that year, I started experiencing weakness in my neck muscles. I remember sitting down for dinner one night and my neck muscles were so weak to the point where I could not even tilt or hold up my head. Initially I thought I had pulled or strained muscles from the Zumba classes I was taking, so I went to physical therapy for three months, but this actually made the pain worse.

I started losing weight rapidly going from a size 12 to a size two in just a few months. I did not even notice the weight loss at first because my mind was fully consumed by caring for my mother who had Alzheimer’s disease. In fact, it was my mother’s Alzheimer’s doctor who first noticed the issues with my eyes and neck and suggested I see a neurologist.

It was not until Fall 2013, almost two years after I initially started to feel some of the myasthenia gravis symptoms, when I finally received a diagnosis for MuSK MG. I often felt frustrated by my doctors and like they were not listening to me, which I think is a very common occurrence in the rare disease community. It is common that people living with myasthenia gravis are underdiagnosed or misdiagnosed, which can make the path to diagnosis and ultimately receiving the proper treatment long, exhausting and complicated.

Based on my experience, if you are feeling unheard or like you’re not connecting with your doctor, then it may be worthwhile to find another one. You need to trust and feel comfortable with your doctor because if you don’t have that you’re going to question if you’re getting the right treatment. You need to be an advocate for yourself.

It has become my life’s purpose to help those who are struggling with this condition because everyone deserves to live a fulfilling life regardless of their illness. Through my volunteer work at the New England chapter of the Myasthenia Gravis Foundation of America (MGFA), I encourage people to share their stories to help raise awareness. You never know if others may be encountering the same illness and how your story may help. Some of us are taught from an early age to keep our medical histories to ourselves. This just is not right because other people in your family or your community may be experiencing similar symptoms, but no one knows why because no one is talking about it.

I am also honored to be a member of the inaugural Rare Disease Advisory Council in Massachusetts. Gov. Baker selected me for this board last year. As part of my responsibility, I’m helping to shape what the rare disease policy and access landscape looks like in the state and utilizing the opportunity to draw greater attention to myasthenia gravis.

If I could give some advice to those recently diagnosed with myasthenia gravis or people who just do not know who to turn to for help, I would tell them to:

1. Let your family and loves ones be there for you and help them understand the disease along the way. My boyfriend, who is also my caregiver, has been my rock. He is always there to step in when I cannot do things, so we don’t miss a beat.

2. Join a local support group so you can connect with other experiencing similar symptoms. There are MGFA chapters across the country!

3. Educate your community to help increase awareness of myasthenia gravis so others can get the help they need.

4. Connect with industry partners working on myasthenia gravis therapies to collaborate on initiatives and activities. For example, I serve as a patient advisor to UCB and help them to develop their narrative and programs in MG.

In my experience, when I started opening up and talking about my condition, the level of support I received from many avenues was amazing. This encourages me to do the same for others. I want everyone to know that there are available resources and a community of people that care. You are not alone in your fight against myasthenia gravis.

Getty image by Fizkes

Originally published: October 25, 2022
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