Zsu (English language version)

Zsuzsanna lives in Hungary and is diagnosed with autosomal dominant centronuclear myopathy. Her story can be found below. A Hungarian language version of this story is also available.

I was born in Budapest on 10 May 1964. I was 36 years old when strange symptoms break out on me. When I went up the stairs it was difficult to breath and my legs stiffened up. Later this became worse. My legs did not want to obey. Now I can only go up the stairs if there is a handrail and using my hands, I pull myself up. My hands do not always want what I want, I can open a bottle with difficulty. I am so clumsy with activities where subtle movements are needed.

Most problems are the stiffness of lower extremities when walking on stairs, getting up from chairs and I can stand up from the ground only with difficulty. Moreover I have visual disturbances too. It is a big problem for me to read for a long time. My eyes get tired quickly because the muscles of my eyes are stiff and weak. In 2001, I started to go to a doctor, but they looked at me strangely, not knowing what to do with my symptoms.

I thought I have heavy breathing because of my heart problems; left part of the heart blocks were diagnosed earlier. The exact diagnosis was dilated cardiomyopathy. This is why pacemacer was planted in 2007. I thought my problems disappear. I thought the heavy breathing is the reason why I cannot go up on the stairs. The heart problems solved but still it is hard to go up the stairs. The walking is often a problem because sometimes I feel as my whole body would be blocked and I am very weak as if all the power go out of me.

Budapest Neurology University Hospital investigated myotonia dystrophy (MMD); DM1 and DM2 but the result of tests was negative. Because they were convinced that the illness is DM they gave up further investigations.

It was a long time until I went to the suitable doctor in the Pécs University. They did everything to find out what is the real reason for my condition. In 2009 it was diagnosed by Izombiopszia as probable centronuclear myopathy. It was very hard for me to accept ‘probable’ so that is why I was looking for more physicians who are professionals of the genetic illness and can help identify it.

I found a doctor again in the Neurology Clinic in Budapest. There I was sent to a genetic examination that based on the diagnosis from Pécs. There was only one step to the real solution, to send blood samples to the University of Chicago, where I was diagnosed with Dynamin 2 (DNM2) mutation diagnosis.

I have two children. My girl is 26 and son is 25 years old. Fortunately they were not present in the symptom and now it has been shown genetically that they are not affected by the disease.

Very good feeling that I now know the reason of different strange occurrences but at the same time also scary because I do not know what will happen in the next few years. My friends and colleagues always looked strangely at me. They constantly asked me why it’s important to find the real disease. There was no one who supported me.

Now I am afraid because I do not see the vision of what is waiting for me. The doctors cannot say anything because they do not know this disease.

My mother had same symptoms. She was 67 years old in 1996, when she died of circulatory problems. She could walk and was not bound to wheelchair, the biggest problem for her was choking / heavy breathing, which made it difficult to go up the stairs.

The fact that I have been in contact with Toni who has the same diagnosis, helped a little, because at last I met someone who understands what is the problems of everyday life. Unfortunately I do speak English, so a bit hard to understand people and what type of illness they have. I’m trying to find people who also have Dynamin 2 (DNM2) mutation diagnosis.

Now the most important thing for me is to put things in order in my mind. I want to leave future events out of consideration. Rather I would like to attempt minimizing the problems of muscle disease in the daily life.