Cystinosis community

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.

Klaas tells about his life with cystinosis

Written by Klaas, published 9 months ago.

When I was four years old, the doctor in the hospital concluded that I suffered from cystinosis. A few months earlier, the same doctor concluded the same for my sister. Since cystinosis is a hereditable disease, it could be the case that I suffered from it too. And unfortunately, this was the case.

Cystinosis is a metabolic disease characterized by a disorder in the body cells. In cystinosis patients, the body cells are unable to transfer cystine out of the cells which leads to the accumulation of cystine in all body cells. That is harmful for the human body. It affects the whole human body, but in particular the kidneys who respond most sensitive to the accumulation process of the cystine.

The direct consequence for me at the age of four was that I had to take medication. My parents prepared the medication and fortunately, I have never had any problems taking the medication. Next to that, I also had to take eye drops, because the eyes also react quite sensitive to the accumulation of cystine. Fortunately on that age, my parents were prepared and able to put the drops in my eyes.

The purpose of these medicines (the pills and the eye drops) was to slow down the accumulation process of the cystine in my body cells. Furthermore, I had to take what is called ‘growth hormone’, because I did not grow fast enough compared to other children of my age. I am very happy that I have not experienced any significant problems with regard to using these medicines during my early youth. Therefore I can conclude that I have had a really unspoiled childhood. For example, I went to school normally and I have been playing football from the age of six.

Deterioration of kidney functioning

However, during my primary school period, the functioning of my kidneys deteriorated. To be honest, I do not remember that much of this period. I do remember that I had problems in the early morning every now and than. I did not eat any breakfast, I was often nauseous and I had to throw up sometimes. In that period I often arrived later at school compared to my classmates. Fortunately, the school was really understanding. I also was a bright child, so I could afford to miss something at school. When I was approximately ten years old, the inevitable was about to happen: I had to start dialysis. Till that moment, my youth was really happy and unspoiled, which is plausible because I cannot remember any poignant things with regard to cystinosis of this period.


As I said, I had to start dialysis on the age of ten. I was hospitalized in Nijmegen where I received a catheter (a little tube in my belly). In first instance, I had to dialyse at home, four times a day. This implies that I was ‘connected to a machine’. This machine took over the work of my kidneys. It took out my belly the old and contaminated liquid through the catheter and replaced it with new clean liquid. And this happened four times a day. Again, I cannot remember too much about this period. The main thing I can remember, however, is that I had to follow a diet. The goal of the diet was to limit the amount of protein I ate. Protein is for example contained by meat and savoury things; the things cystinosis patients love! I experienced this diet as a true punishment. Next to that, at some stage I also had to limit the amount of liquid I took during that period. Since I was taught too drink as much as possible during the day (that was good for my own kidneys, doctors said), it was really difficult to limit the taking in of liquid. Next to that, I remember that I did not feel too well in that period. Having breakfast was still a kind of a problem. And when I look back at photographs of that period, I almost do not recognize myself. During that period I looked very pale and my face was much smaller than it is today. However, I still managed to play football and tennis (which I started at the age of nine).

Kidney Donor

When I was eleven years old, I was hospitalized in Nijmegen again because there was a kidney donor available for me! After less then 24 hours after the first telephone call, the donor kidney was put into my body through surgery. Fortunately, the kidney started working immediately. The stay in the hospital went without any further problems and after two weeks I was allowed to leave the hospital. And even more positive: I was able to eat and drink unlimited again! Off course, I had to go the hospital very often to check the functioning of the donor kidney. Consequently, I missed a lot at school. But fortunately I still was very bright and I passed the final year of primary school relatively easy, despite all events with regard to my kidneys in that year.

Trouble taking in medication

After finishing my primary school, I went to secondary school in Zwolle. Since I was a little older, I started behaving more independently. To go to school I had to get up really early, for example and then I made my own lunch and prepare my own medication for that day. I also learned to put in eye drops myself. Naturally I am really accurate with the taking of my medication so the preparation of the medication was no problem at all. Overall, my period on secondary school was again relatively unspoiled. However, during this period I experienced a drop in my motivation to take the medication. In particular the medication that slows down the accumulation process of the cystine. One of the unpleasant side-effects of this medicine is that it might lead to a distasteful breath. During the period on secondary school, I received some comments about my breath. Not that often and not straight in my face, but every once in a while I heard something about it, which I off course did not like. Next to that, I felt a little insecure on the age of fifteen, sixteen and seventeen as many children do at that age. As a consequence, I seriously considered stopping this kind of medication. But after conversations with my parents, my doctor and a psychologist I decided not to stop the medication. It was in this period, I also had trouble in accepting the fact that I suffered from a chronic disease. I was doing OK, just as good as my healthy classmates, right? And I am able to do whatever I like, just as ‘normal’ kids do, right? Off course, this is true, but the fact remains that I suffer from a chronic disease and other kids do not. In that period, I unconsciously experienced difficulties in accepting this.

Routine Checks

After my secondary school, I went to university in Groningen to study Economics. After a few months I decided to move out of my parent’s home and live by myself in Groningen. This was very exciting and it implied that I was fully responsible for my own medication. But based on my experiences in the previous year, this should not be too much of a problem. For the eye-drops, by the way, I always use the alarm on my watch which helps me remember that I have to put the eye-drops into my eyes. Very convenient! Next to that, I go three times a year to the hospital in Nijmegen to check the functioning of my kidney. One time a year I go to a special cystinosis clinic in the hospital of Nijmegen. I thus visit the hospital of Nijmegen four times a year for a routine check. This suits me fine, apart from the severe travelling time from Groningen to Nijmegen.


All in all, I am doing really fine today and I consider myself as happy. I have been living with a donor kidney for more than thirteen years now. Apart from the use of medication, I do not experience many disadvantages from suffering from cystinosis. However, every now and then I am confronted with the negative side-effect of the medication, the unpleasant smell of breath. The only thing I can do is just to accept it, because alternative medication is not available (yet) and stopping the medication is simply not an option to me. Nevertheless, don’t experience life with cystinosis as annoying. On the contrary, I consider myself as happy and I am really proud of what I have achieved so far in life.

Written by Klaas, published 9 months ago.

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