The story of Kim and Jethro


I’m Kim and I live in Belgium.

In 1998 I was diagnosed with neurofibromatosis. The doctors never told my parents how important follow-up is. So I never saw a doctor who followed me up and the necessary examinations were never done.

For the past 24 years I have had muscle pain, small internal and external growths, I am also tired quickly and often, I have had a lump in my leg the size of a marble for almost 20 years, it was never investigated what it was, it could be a just a lump of fat according to the doctor. I physically can’t work full time because I’m in too much pain and I’m too tired. But for the government I am able to work full time because there is nothing wrong with me, I have no diseases, my muscle pains come from “wrong movements, or it’s normal because I have a physically demanding job, there is always a statement but never the link with a disease because there is nothing in my medical file”

When I was pregnant with my second son, I also had a lot of pain. During the birth of my second son Jethro, the gynecologist said “your pregnancy and delivery were so hard thanks to your illness” I was shocked and asked “what illness I have no illness” “you have neurofibromatosis” she said.

We didn’t really think about what the gynecologist said I would have a disease because Jethro was a pretty difficult baby. Bad sleep, a lot of attention, bad food, a lot of crying,

When Jethro was 8 months old we noticed strange movements. His meter recognized the movements as West syndrome, she said to contact the pediatrician immediately. So I did that and he told me “this doesn’t happen very often and it will probably be something else, you can come by within a month. In the evening, after searching via Google, we came across a website and emailed it with our concern. They sent us an e-mail back that same evening asking if they could forward our e-mail to the university hospital. After they had done this, the hospital called us the next day that we had to come by for an EEG that same day and yes Jethro has west syndrome.
When the hospital wanted to find out where it came from, they started a DNA test, they asked us our medical history and that of our brothers / sisters, ancestors…. I then mentioned that I have been told that I have neurofibromatosis but that I’m not sure about this.

A few months later the call came from the hospital that Jethro and I have neurofibromatosis in our DNA.

I already made an appointment with a neurologist here in town and he found that my medical file stated in small at the very bottom that I have neurofibromatosis, the gynecologist had also found that there. She has made the necessary arrangements with the university hospital so that I will receive the necessary follow-up

Jethro and I will be monitored for our illnesses at the same university hospital.

I have so many questions that I may not get an answer to, the only certainty I have is that it is hereditary and that I got it from my mother.