PERSONAL STORY OF MUSCLE GSD
MY TARUI DISEASE JOURNEY
My name is Susan, I am 59 and have GSD7, otherwise known as Tarui disease. I was diagnosed at the Mayo Clinic by muscle biopsy at the age of 34.
Name: Susan Edgerley
GSD: Tarui’s (GSD7)
Diagnosed at age: 34
Age at writing: 59
When I received the call from the Mayo Clinic, I was told I have a rare disease called Phosphofructokinase deficiency. The doctors did not know much about the disease except that I am deficient in the enzyme that breaks down glucose for energy. They said that maybe 50 people in the world had it (there are still only about 100 to 200 diagnosed cases worldwide), and I should try a high protein diet to alleviate symptoms. They wished me good luck, and that was the end of that.
So started my quest to find out more about my mystery disease.
Childhood muscle pain and fatigue
As a child, I was constantly plagued with muscle pain and fatigue; “growing pains” is what I was constantly told. I had trouble keeping up with my friends, whether it was walking, riding bikes, roller skating or anything else related to endurance. PE was a nightmare, especially in 6th and 7th grade. I had a cruel PE teacher who always told me I was lazy and out of shape. I was the only one to flunk the Presidential Physical Fitness test.
Unlike other GSD patients, I was also diagnosed with an autoimmune disease in my 20’s that caused my muscles and joints to become extremely inflamed. That confused the picture for me.
Labeled a hypochondriac
In my family, my grandma called me a hypochondriac and told me not to complain about my “growing pains”. No one took me seriously, even when they saw how I struggled to keep up when we walked anywhere. When I fell because my legs gave out, they said I was a klutz! I kept quiet and never said a word about how I was feeling.
My first ever meeting with another GSD person – Jeremy Michelson, GSD7, in Wales.
The one thing that really sticks with me all these years later is the embarrassment and shame I feel when I can’t keep up, or when I ask people to slow down or wait, while I stop and rest.
As a teen I had a lot of friends who were really great and I felt normal for the most part. I went to Florida State University (go NOLES!), majored in fashion and worked in Texas for several years. I then returned home to Tampa, where I met my husband and we raised our daughter Liz.
Searching for an experienced doctor
After I was diagnosed, I went to work researching my disease on the internet. It was 1995, so there was not a lot of information out there. I was lucky enough to find a support group, and it was through that group I found out about Dr Alfred Slonim in New York. It took me a year of fighting with my insurance company, but I was finally on my way to New York.
In Dr Slonim, I found an empathetic doctor who listened and understood exactly what I was going through. Finally, I was able to talk about the muscle fatigue, the fear I felt when I saw stairs or a hill I had to climb, knowing my legs would turn to lead and my muscles would swell to the point that I could not bend them. He not only understood, he had a treatment plan.
When he put me on a treadmill for 45 minutes to test my endurance, I told him I could not walk that long without stopping. He assured me that with his plan, I could. I started out very slow and worked my way up and was able to walk 45 minutes without stopping!! Dr Slonim and his team, including a dietitian and a physical therapist, put together a plan that I could take home with me.
My life changed
When I say this was life altering, it is an understatement. I felt liberated. Knowledge is power, and I now had the knowledge to do what I needed to do to take care of my muscles. Just as important was knowing that I was not a lazy, out of shape hypochondriac. Even after I had my diagnosis, it was not until this moment that I realized I not only could live a good life with this disease, but I could thrive.
Scroll through my photos of family walks and the course in Wales.
In the mid 2000’s, I was introduced to Andrew Wakelin. I was told that if I had questions, he was the person who had the answers. Andrew had a wealth of knowledge and was never too busy to answer my questions.
Walking course in Wales
I remember reading about the annual walking courses in Wales which Andrew organised, and how much I wanted to go. Andrew really encouraged me to attend, explaining that it is a great opportunity to meet other people with GSD5 and GSD7.
In the summer of 2015, I finally decided to do the course in Wales. I don’t think I have ever felt more normal than I did that week. We were a group of 10 people of various ages living under one roof, sharing our stories that only we understood. We were hiking different trails, challenging ourselves and having a blast.
Most importantly, Andrew taught me to listen to my body and not to push past my limits, to stop and rest for a minute when my muscles get fatigued, and the importance of getting a second wind. I will never forget the week I spent in Wales, or the amazing people that I met.
Walking trails with my husband
Today, my husband and I are living in Charlotte, North Carolina, which offers so many scenic trails and greenways. My husband Michael is my biggest cheerleader, we have had some great adventures together and look forward to many more to come.