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Saskia's Story

From Walk My Life to Drive My Life

My name is Saskia.  I am 36 years old and I’m from Germany.  Until I was about seventeen and a half years old, I lived a normal life without knowing what else was going to happen to me.  My family noticed that I somehow walked differently.  A few weeks later, I also realized it.  For the next three years many doctors searched for a cause and, while some did not find anything wrong with me, a few misdiagnosed me.  My walking was getting worse and very exhausting for me.  Often I was asked if I had something wrong with my knees, which I found very unpleasant because I did not know myself what was going on.

One day I stood in front of the stairs with my shopping bags in both hands and could not walk up.  At that moment I was completely desperate.  Suddenly, I realized that in order to get up the staircase, I would need to pull myself up using my arms.  I have encountered many such situations ever since.  At that time I felt very alone with my complaints and problems.

At the end of 2002 I tried to get help again from an orthopedist. This was a successful meeting as I heard the words “muscle disease” for the first time.  After several visits to the doctor and hospitalizations, I was transferred to a muscle center.  At this time, I had a muscle biopsy and a genetic examination.  I was diagnosed with Hereditary Inclusion Body Myopathy (HIBM, now known as GNE Myopathy (GNEM)).  I was diagnosed only three years after my symptoms started.  I later learned that was quite a fast time to receive a diagnosis for a rare disease.

I felt alone with GNEM and wondered why it had to hit me and how my life should go on.  My mum helped me to find something positive.  At some point, I also noticed weakness in my hands and fingers.  I could barely open bottles.  Then came my first rehabilitation session.  Here I realized that I am not alone!  There are so many muscle diseases with similar complaints and problems with everyday life.  Finally, I was able to exchange ideas, feel understood and find some relief for my difficulties in my day-to-day life.  I got a manual wheelchair and many more aids over the years.  With this help I could win back a lot of quality of my life.  As my disease progressed, I noticed that I needed more help during the day and night.  That is why I have been receiving assistance from caregivers since mind 2014 twenty-four hours per day.  Someone has to be present to help me with everything.

“Whoever does not fight has already lost” has become my motto.  I do not fight against GNEM, but for a happy life with a lot of fun.  Life has taught me so much. GNEM has made me the person I am today.  I have met a lot of great people, had experiences, and found new hobbies that I do not want to miss.  Who knows if I would have become such a positive person without GNEM?  I can appreciate the little, beautiful things that happen every day.

I hold honorary posts in various clubs in which I am committed to making sure that people with disabilities get the mobility support and personal assistance they need.  Because of my unique experience, I can help many friends and acquaintances.  I am also committed to working with and helping delinquent young people, as I think they are the generation of tomorrow.

Recently I created my own YouTube channel to promote GNEM and encourage and educate people about the disease.  Here you also get to see what you can do with a wheelchair and the limitations that come with it, such as traveling through the jungle!

Read Saskia's story in German, here