If you’re new around here, I am getting personal in a series of emails. I want to share more about how I ended up in this space as an artist, mom, community support professional. You can catch up on email one here! Normally these emails come out every other Thursday, but this is a belated Friday edition—my body just did not want to cooperate this week so I am a day behind.

After that memorable visit with my family practitioner, we went to a somewhat local neurologist. To say it was a bust might be a major understatement. The summary was that his clinical examination missed textbook signs of myasthenia gravis (MG), and the cvs-receipt-length list of blood work we performed in advance of the appointment neglected to include the antibody test for it as well. I underwent a brain MRI to rule out multiple sclerosis, so he had no other ideas. At the end of our visit, he remarked to my mom that I likely was underweight because I was malnourished and she should try cooking food that I like and my symptoms would improve.
 

MG is a rare disease already, and only about 10% of patients have a juvenile onset. We requested a referral from my family practitioner to DuPont Children’s hospital in Delaware, a facility we hoped would be better equipped to handle my case. This was the first time I started to wonder if maybe I was making it all up. I couldn’t shake the dismissive feedback we had already received from professionals that implied I was living out a fictional narrative I had created in my head. It wasn’t until I landed in the ER for difficulty breathing that we realized how serious this potential diagnosis could be, if it was MG. Without a firm diagnosis, even in DuPont’s own ER, the attending wrote in my chart “young hysterical girl, family claims she is being worked up for myasthenia gravis”. It wasn’t something I knew about at the time, but a few years ago when I was moving and needed to request hard copies of all my records, I found that note.

Just before Christmas 2001, we got the confirmation we were looking for.

After finally having the correct tests in advance of my appointment at DuPont, it was confirmed that I had generalized juvenile onset myasthenia gravis (MG), and immediately started treatment on a drug, Mestinon, that is more widely known about for its use to treat nerve gas exposure for military personnel during the Gulf War. The simplest explanation of MG is that I have 2 subsets of antibodies that bind with and destroy the acetylcholine receptors at my neuromuscular junctions resulting in muscle weakness. Muscles can’t contract if they don’t get the chemical memo, acetylcholine, to do so. This is what causes the fluctuating weakness of the voluntary muscle groups. There's no known cure, and there's no known cause.

I remember being in the neuromuscular clinic and having a small crowd of doctors peeking their heads in. They had never seen antibody levels this high in a child before. This is something I would quickly need to get used to experiencing. Rare disease. Rare subset. Learning opportunity for all the healthcare professionals. 

An EMG was next, just to check that box off for confirmation of the blood work. Needles were inserted into several muscle areas, and electrical shocks were sent to repetitively stimulate the nerves and measure muscle response. After the testing on my leg was done, the tech told us it was not his place to say, but this was definitely MG. He told us he felt bad to do it, but he had to continue the painful testing in others areas for the results to be fully verifiable. This was my first taste of how much testing, painful poking, and prodding has to be tolerated when managing a rare and incurable disease. 

A taste of life before MG.

There’s something you should know about me. 

Before I was sick, I was the type of kid who always had something going on. I loved activities and took jazz, hip hop, and Irish dance lessons. I played soccer on the county team. I took private voice and piano lessons, sang in the school choir, played oboe (badly) in the school band, and played viola in the school orchestra. I took art lessons for painting and drawing. I loved being outside. I was fiercely competitive and independent. Giving up was not in my nature. In everything I did, I wanted to go the furthest, run the fastest, and come out as the best.

 Getting sick changed my entire world. I could barely manage to get out of bed or brush my hair most days. All the activities went away. Leaving school meant no more band, no more choir, no more orchestra. I didn’t have the strength in my hands anymore to continue piano and my diaphragm was too weak to continue with voice lessons. I quit dance because some days I barely made it up and down the stairs in our house. Most of my energy was spent on tasks of daily living or on appointments and tests. 

The only thing that really seemed adaptable and accessible for my frail and fatigued body was art. I dropped my pencils and paint brushes often, but it required less strength and endurance to make art than the more physically demanding activities I had given up. It became my “thing” that got me through the isolation, the fear, and the grief of my life changing in so many ways. I had no idea that it would be with me through the years through treatment changes, testing and re-testing, and the waxing and waning of symptoms.

Pulmonary Functioning Tests: 2001 vs 2016; embarking on a life of many medical exams, tests, and procedures

In the days before social media, it was overwhelmingly and isolating to have a rare disease diagnosis. My mom was keeping a binder full of research from the internet that she would print out so she could take notes and work through a list of questions for my care team. Would I ever go back to school? Would I be able to drive? Live independently? Have a career? A family?

There was one thing she found out quickly and was adamant we pursue it. We needed imaging to see if I had an enlarged thymus gland or a tumor, and needed to pursue a thymectomy in order to give me the best change at a high quality of life. We knew no one else who had ever had this procedure. There was very little clinical data out there on it. I didn't even know what a thymus was. 

But, there we were just a few months into this new world of MG seeking out cardiothoracic surgeons who could help us.