Living with a rare metabolic disease

The story of Melissa

Hi, I’m Melissa Quekel 23 years old and I live in the Netherlands with my fiance Bart. When I was 1 year old, I was diagnosed with type 6 glycogen storage disease. I was a very ill child and therefore had many long and heavy hospital admissions. 

Going to school was not always feasible for me to go to. Also for a day out, a lot had to be planned because I could always get suddenly get very sick. When I was not well, my glucose level would go down very quickly to low hypoglycemia. As a teenager, it went better and I could do almost anything I wanted! Sometimes I had to rest for a day and always eat on time. In this age, I always had a lot of muscle complaints that do not fit with this type of glycogen storage disease. The pediatrician always said that it was growing pain…

I have studied nursing care with a specialization in care for the disabled people. I graduated in the summer of 2018. Until December 2019 I was even able to do this work! I had to eat more often and sometimes rest a bit more. My activities were very diverse. I had a lot of experience for my age in many different areas. I helped people with care from getting out of bed to showering and from helping with eating to changing the diapers. Since people were mentally disabled and some were passive, this was sometimes quite hard work! But that doesn’t matter to me this was my dream job! I was also an ambassador for care and welfare. I gave guest lessons in schools and workshops and participated in large professional meetings.

In December 2019 at the age of 22, I had a relapse and my glucose went to a very low level. Despite food, I couldn’t get over it. A long hospitalization with a glucose infusion and tube feeding followed. I had many ups and downs during this period. I have lost a lot of muscle strength and fitness. During this period I also had muscle breakdown. 

Because various complaints were not correct, DNA research had to be carried out again. This showed that I have type 9B glycogen storage disease and not type 6. Once out of the hospital I was very tired. Bart had to help me with everything. If I did something, my glucose level would drop immediately. This has improved slightly with a lot of physiotherapies, medication, rest, and a diet. I can take care of myself now and do different things but not too much in one day. I get tired quickly and if I am a little sick or do something for a long time I can sink through my legs. I, therefore, use a wheelchair outside. I have been unable to work since December. I will probably not be able to work anymore due to my glycogen storage disease type 9B. This is sometimes quite difficult for me to accept. 

Despite everything, I am positive and optimistic in life. I now tutor students. I can no longer work as a nurse but there are many other things I can do. I can also start as an ambassador in the new school year, but then I present seated and less often than before. I can still do fun things, but often with a wheelchair and spread over the week. I also share my story on Instagram (melissaquekel) and in a blog at the Dutch Association for Metabolic Diseases.

it’s not always easy, but it’s always worth it!