The story of Leif
My name is Leif, I was born in November 1976, and I was diagnosed with GNE Myopathy in 2015.
I was married once, and we had no children. For the past nine years, I have been in a relationship with my great-girlfriend, we have no children but together we have five godchildren. We live in Switzerland.
Actually, I had a pretty normal childhood. What was special about me was after my birth I was placed with a foster family and then with a second foster family. This family adopted me a few years later. Therefore, it is not possible for me to deduce my illness from my birth parents or ancestors.
I have always had thin legs, but this did not prevent me from playing tennis and table tennis competitively in my youth. That is why I did not notice that something was wrong. Nevertheless, I was not the most limber person. 😊
About 16 years ago, I slipped a few times in winter and I couldn’t explain why. Then a colleague at work talked to me about the way I walked and told me to have it checked out.
My doctor asked me to stand on my heels, which already was not possible for me. After that, some examinations followed but I still had no diagnosis.
I stopped thinking about my condition for a while. A little later, however, I started searching the internet for possible causes. During this time, I came across a condition known as GNE myopathy and that a possible drug that was in its phase 1 stage was being tested in Newcastle, England. Since I had no diagnosis, I could not participate in this study.
As my steppage gait got worse and worse I had carbon orthoses made by an orthopedist, then had another pair made after about two or three years.
In 2015 I wanted to know exactly what was going on with my body and went to a specialist in Zurich. After a muscle biopsy, the doctor didn’t believe that I had Nonaka or GNEM and wanted to send my blood to Finland instead, because there is a Professor by the name of Udd who discovered a disease with similar symptoms.
Around the same time, Newcastle contacted me and asked if I now had a diagnosis. They still needed patients for phase 3 of their study. Because I still did not have a diagnosis, I was allowed to send samples of my blood to the lab in England, and ‘lo and behold’, four weeks later I received a GNEM diagnosis, and another three weeks later I was in Newcastle for the first time to participate in the study.
I went to Newcastle every eight weeks from 2016 to 2017 for the study. My orthopedist made me a new pair of ‘foot lift’ orthotics out of silicone. After that, I went to physical therapy to help remobilize my feet which were quite stiff caused of the old orthoses made of carbon. With the new orthoses made of silicone, I could feel small movements under my sole again. Because I was used to wearing carbon orthoses when I switched to silicone ones my stability suffered. Silicone orthoses offer better mobility but less support. Although I felt less steady with my new orthoses, I gained better mobility with lots of practice. I tried to recoup my strength by increased hiking, biking, and snowshoeing. My girlfriend is quite supportive and encourages me a lot to be involved in these physical activities.
Today I still wear silicone orthoses. When I have to stand in one place for a long time, for example, at an exhibition, or having an aperitif or the like, I need to always have a cane with me. I am no longer able to stand still (in one place) without constantly being challenged with my balance. Previously, and for a long time, when I hiked, I used walking sticks now unfortunately, I can no longer walk the same strenuous trails as I did a few years ago. Currently, I still hike for three to four hours at a time, and I choose easier routes.
I somehow knew early on, before the first symptoms, that my brain is my capital and not my body, which is why I work professionally in an office and will always continue to further my education. I am an absolute numbers person, and I am convinced that I will be able to contribute valuable things in this area for a long time to come, even if I will no longer be able independently to control my body.