Patients Narrative


Roberta Living with GNE Myopathy from Turkey

My symptoms came out very quickly. Until i was 25, everything was normal; I could do everything until November 2007. First I started to be late to work, I couldn't understand myself my friends were seeing me on the way and they were asking "are you all right? Why are you walking lame?" Then in 2 weeks I came home late and was climbing the apartment stairs like creeping.. my dad saw this and thought I had something wrong with my bones (like hip dislocation), I had an x ray, nothing was wrong then they send me to a neurologist, she told I could be MS (multiple sclerosis), I’ve seen the MS doctor and she sent me to neuromuscular professor. Then she wanted some tests like EMG, biopsy just to be sure about the disease.
When I was diagnosed, my doctor didn’t tell me everything just told me that this was a progressive disease and I should learn to live with this. I refused this reply and tried to search everything by myself from the internet.
I didn’t wait long time for the diagnosis it came out very quickly. I was shocked when I learnt that something was wrong and I had to live with this. I panicked and refused everything.
There weren’t any immediate impact, I tried to continue my life as it is, I didn’t change my job or anything in the house, I tried to live my normal life, but as time passed and my disease progressed I had to change things by experiencing.
My diagnosing doctor didn’t prepare me for the future. I had chance to find some “cure” in other countries like France and that doctor helped me a lot. I guess this information changes from patient to patient as some people need to know everything and some people don’t. Doctors have to answer any type of question that a patient asks and they have to give chance to see other doctors that mine was not happy when I went to France.
The progression was not that much fast in the first years. Then it progressed very quickly as I started not to go out by myself or do daily activites by myself and I needed help of someone. Besides, my falls started to be dangerous. For the future we have to be open to the surprises and we should expect and also embrace that we could not be able to do anything that we are doing now.
The biggest change in my life was I had to rearrange all my dreams. I wanted to live by myself and still living with my parents. My social life didn’t change at all only the way changed. This disease challenges me every way, I am a stubborn person and I hate getting help from people. I didn’t let things go and still having the fight doing things by myself as soon as it goes.
Not to leave themselves, not to be demoralized and be with people who makes them feel comfortable. Life is hard enough, also for us it is harder than the others.
I was 25, just graduated from university and I was working as a project coordinator in a translation office.
I don’t have siblings. No one in my family has this disease.My diagnose was correct.
Not being able to run
Not being able to stand on my toes and heels
A little bit foot drop
This is what is written in the genetic test. As far as I’ve told, my parents are both carriers although they are not relatives.
Mutation 1:
Exon 9: c. 1525C>T (p.His509Tyr) Heterozygote
Mutation 2:
Exon 10:c.167G>C (p.Gly559Ala) Heterozygote