The story of Margaret
Hi everyone! My name is Margaret and I am 21 years old! Rare Disease day is coming up and I wanted to share my story!
In 5th grade my classmates and I were at outdoor school and all of a sudden I couldn’t walk on my right leg. They called my mom and she took me to the orthopedic doctor and he put me on crutches because he was worried about my femur getting a possible stress fracture. In the next 3 days the pain kept getting worse and worse, so I went back and he did an MRI. The MRI showed that I had a huge hematoma in my right quad. The doctor looked at me and asked how I got it. I simply said I don’t know… he told us that a hematoma of that size doesn’t just appear. We didn’t decide to do anything else with it because it healed on its own.
Then in 6th and 7th grade I had really bad acne and nothing worked, so my dermatologist brought up isotretinoin and we said yes. Anything to help my acne lol… he ran some blood tests to make sure everything was working right because isotretinoin can be very hard on the body especially the liver. He came back with the results and it showed I had high AST and ALT. He recommended I go see a GI doctor and so we did. The first GI doctor told me to go on a diet. I didn’t like that idea because I was so young and didn’t feel I needed it. So we went and saw my second GI doctor and he told me the same thing but he had mentioned that it could be related to the muscles. Once again we didn’t think it could be related so we didn’t do anything about it. I was also a very active teenager at this point.
In the beginning of freshman year, I got a horrible case of Mono that kept me out of school for almost a month. The Mono caused me to be extremely fatigued and caused my body to swell up like a balloon.
The third GI doctor came in and told me once again I had fatty liver and to go on a diet. I tried this time to follow the diet, but it had no effect on my counts. Finally I turned 18 and we were recommended to a adult GI doctor. She was super thorough and ran several tests which either came back inconclusive or they didn’t find anything new. And so she recommended a liver biopsy.
My mom works with rare genetic diseases and was on a phone call with a doctor from Mayo Clinic. He asked about me and my mom shared my story. He said wait before you do anything that invasive let’s get her genetics done. We said okay and began that process.
On March 10th, 2021 I was diagnosed with late on-set Pompe Disease. Pompe Disease is a Glycogen storage disease and affects the muscles in my body including my heart, lungs, and diaphragm. The disease ultimately causes my muscles to deteriorate over time, but I was very lucky to have caught it early. I have been on this journey for nearly 3 years, and yes, I have had set backs, but I have also had major accomplishments since the diagnosis. There are days when I feel weaker, have less energy, and feel less motivated, but I keep telling myself I can do it, you just have to get through this one day. I have learned that I have to take things day by day with my body, and accept that I might be more fatigued than others, but that okay. I have also accepted that I see more doctors and get sick easier than most of my friends and family. I recently had a doctors appointment at Duke Children’s Hospital, and received some of the best news ever. All my lab work came back completely normal! My physical therapy assessment was better than it has ever been! The medication I switched too earlier last year is working! This is the first time ever that I have received such great labs!
I wanted to let everyone know it is possible to live a normal life with a rare disease! I am heading to the number one nursing school in Texas this summer and am very excited to continue my journey and see what life has in store for me.
I was very lucky to have caught this disease early before it caused any major problems. With my diagnosis we are one step closer to finding a cure!