My wish is that children and adults with cystinosis would have access to a treatment that would not elevate the stigma already associated with being physically different. Cystinosis attacks all the organs in the body, including the kidneys, eyes, liver, muscle system, and brain. Until relatively recently, cystinosis was considered a children's disease because so few patients were living beyond adolescence.
There is one treatment option for cystinosis, a drug called cysteamine. Cysteamine was first trialed in the early 1980s, and I was fortunate enough to be part of an experimental study. Cysteamine (now marketed as Cystagon) isn't a cure, but it slows down the progression of the disease by helping to rid the body of cystine, the amino acid that people with cystinosis can't naturally remove from their cells. Cysteamine is taken orally and put into the eyes - one drop, each eye, every waking hour - to prevent organ failure and blindness.
But there's a catch. While so many of us are thankful that cysteamine exists, it is a miracle drug with a (nonliteral) fatal flaw. Cysteamine can not only make its consumer feel very sick, but it also emits a smell that is so pungent for some people that noncompliance seems the only option to remain socially acceptable.
You see, at 11 years of age, a little boy at school told me that I smelled bad. Horrified at this, I stopped taking my cysteamine. Although everyone with cystinosis eventually needs a kidney transplant, my noncompliance put me on dialysis by age 16.
My period of noncompliance also caused me to lose most of my muscle mass. Swallowing is difficult, and using my hands is nearly impossible.
I am not the only one. Within our community, there are children who are just like their healthy counterparts - they want to fit in. This is sometimes already an uphill battle, with short stature, pale skin, and bone problems being common with cystinosis. With the brutal side effects of cysteamine, it can be even harder. It is difficult to understand that a preventative medication that doesn't make you feel better - it actually makes you feel sick - is critical for your health. Noncompliance comes easy. Death comes too young.
We need a better treatment for cystinosis. Barring the existence of a world where everyone is accepted - or one in children and adolescents aren't hurt by hateful comments - this is my wish.