Felipe Polo-Wood is an innovator—both in his work as an IT consultant and as a patient with myasthenia gravis (MG), a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Here, Felipe shares his journey with MG, from fighting for a diagnosis to making a difference through research participation.
When and how were you diagnosed with MG?
For years, I bounced from doctor to doctor, being misdiagnosed with many different conditions that I didn't have—including a neurologist telling me that I was faking it. As the situation worsened, my frustration grew—not so much because of the illness, because I am generally good at accepting whatever God sends my way—but because of the uncertainty and inability to convince family and even medical professionals that there was something wrong with me.
One of those days, I was venting my frustration to a doctor friend. He tried to calm me down by explaining how medicine is not an exact science, and doctors sometimes have to try several things in an attempt to figure out exactly what the condition is. For example, he said, the way your eye looks right now could be a symptom of several dozen conditions. He then proceeded to send me the list of conditions that can cause ptosis.
Well, that was all I needed. For the next three days, I went on a Google research frenzy, using a kid-sized eye patch to be able to read. I learned everything there was to know about all the diseases on the list. There was one that I kept coming back to—myasthenia gravis. It described my life. I sent a message to my doctor and she got me an appointment with neurology, where they confirmed MG. Finally, I received a diagnosis, thanks to some detective work and a knowledgeable friend.
What has been your experience as a person living with MG?
For a long time, my mornings would start semi-normally, but by the afternoon or early evening I would be totally unable to move. My arms felt like they weighed 100 pounds each, and my legs even more. The worst days were when MG attacked my neck muscles, and I was unable to hold my head up. We had to get new furniture that would allow me to spend my days pretty much laying down with my head physically fixed, because if it fell to the side, it was hard to bring it back up. That way I was able to continue working—I mainly work with computers—and providing for my family.
My condition improved and worsened in cycles that I didn't understand or couldn’t pin down to a specific behavior or external condition. This was particularly frustrating because by the time I would get an appointment with a doctor or specialist, my condition had evaporated, and I seemed to be exaggerating.
I became used to counting my steps in and out of the office and to the coffee machine so that I wouldn't run out of juice by the end of the day. I really didn't like sharing my condition with anybody because the few times I started talking about it, people would say, "You look normal to me." Going out with the family or enjoying any activity that included uncertainty about how much walking would be involved was pretty much avoided.
After diagnosis, things improved both in reality and psychologically. Having a diagnosis was better than the uncertainty, and the medicine-based treatments (including Mestinon and CellCept) did improve my life. After my neurologist mentioned that a new study showed some possibility of improvement with a thymectomy, I read all about it and started pushing for it.
About a year later, all my symptoms subsided, and I have been pretty much symptom-free ever since. Of course, I understand that remission is not a cure and that my condition could take a turn for the worse at any moment. But in the meantime, I am very thankful to God and to the clinical developments and doctors that gave me a fairly normal level of living.
How did you get involved in research?
My neurologist, Jeffrey Guptill, MD, MA, MHS, is so heavily involved with MG research that almost every other visit he mentions yet another study and offers the possibility of participating, if applicable. I had previously participated in other research, as well as being an organ and blood donor—which I had to stop because of MG—so participating in research that could help people with my condition is not something I could reject.
How did you first hear of MGNet, and how have you been involved?
Initially, I didn’t know that some of the research projects I am already participating in were sponsored by MGNet. I was glad to discover that there is a concerted effort to research this condition specifically, and I will be glad to participate as much as I can.
How has research made an impact in your life?
For years, I did not make the correlation between the times when I just couldn't move and the times when I couldn't read or the sounds that I couldn't stand. In all fairness to the doctors that misdiagnosed me before, I never told them the whole story, because I did not know those things were related.
Before research was ubiquitous in medicine—or at least before digital means empowered it to explode—doctors had to accept the definitions of MG that they learned in school. It was very unlikely that they would have an MG patient in their lifetime, and if they did have one, the condition often went undiagnosed.
Also, once diagnosed, treatment had to follow the standard textbook guidelines. For example, my neurologist told me that I wasn't a good candidate for thymectomy because it was usually not recommended for older individuals without a thymoma who had the condition for many years. But, he said, there is a study going on that will help us answer that question better at the end of the year. Once the study came out and showed that people like me would benefit from thymectomy, my doctor recommended it and my life came back.
Now that we have started looking at genetics, it will open so many doors, not only in finding an explanation for the condition but also in personalizing the treatments. Access to global research has allowed investigators to look at a lot more data than just the few patients a doctor can see in their office, enabling them to make correlations between multiple symptoms that might have been overlooked before.
The Myasthenia Gravis Rare Disease Network (MGNet) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). MGNet is funded under grant number U54NS115054 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).
