the
5
ki ney
citizen
People living with Cystinosis who attended the 2015 CRN Family Conference in Chicago, July 16-18
The fear I felt at that time was all consuming. I knew if we school, graduated from college, and is currently working part
didn’t find an answer soon, he would die. I prayed constantly. time with a goal of being independent and living on his own in
Finally, as he began to show signs of kidney failure, we found the near future. We try very hard to focus on the positive and
our way to the Pediatric Nephrology Department at the Univer- see the beauty in ordinary days.
sity of Michigan Health Care System. Based on his symptoms, In 2012, a delayed release version of Cysteamine, Procysbi,
labs, and a specialized blood test called a white
was FDA approved and only has to be given evcell cystine level, he was diagnosed quickly. At
ery 12 hours to be effective. This has improved
this facility, they had seen Cystinosis before.
the quality of life and increased compliance in
Steve’s symptoms were classic.
many people.
Nearly
all
cystinosis
While we felt happy to finally know what it was
About the same time, in 2012, an eye drop conpatients develop
he had, the more we learned, the more territaining Cysteamime was FDA approved as Cysfied we became. This disease became our fork
taran. Though it has to be given hourly during
kidney failure.
in the road --our before and after. Everything
waking hours (10-12 times daily), it has proved
in our lives after his diagnosis would be viewed
successful in dissolving the cystine crystals in
Many more dialysis
through the lens of Cystinosis.
the cornea.
patients are now
Before the late 1970’s, children born with CysIt has been over 20 years since Cysteamine was
tinosis died by the age of 9 or 10 from kidney
believed to carry the first FDA approved. This treatment has proved
failure. With advances in medical research, disuccessful in slowing the progression of the discystinosis gene.
alysis, and kidney transplantation, they started
ease. It allowed many who have Cystinosis to
to live into adolescence and beyond. At about this same time, reach late adolescence or adulthood before needing a kidney
research proved a drug called Cysteamine could remove cys- transplant, but it is still just a treatment -- not a cure.
tine from cells. It did this by attaching to the cystine within the While many people are living longer, many still experience
cell, thereby changing the shape of the molecule and allowing late complications including muscle wasting, male infertility,
it to leave the lysosome through a different “door” or pathway. bone issues, difficulty swallowing, pulmonary, thyroid and
Steve was started on this research study with Cysteamine central nervous system problems. Clearly, research on Cystiwhen he was diagnosed and improved over time. The down nosis needs to continue.
sides of the drug were that it tasted and smelled like sulfur We in the Cystinosis community remain hopeful and vigilant and
(rotten eggs) and had to be given every 6 hours around the continue to do all we can to increase awareness, educate docclock to be effective in removing cystine from cells. In addi- tors, health care professionals and the public, and raise funds to
support promising research that will ultimately lead to a cure.
tion, it caused severe stomach irritation.
In 1994, Cysteamine was FDA approved as the first successful Research has already raised Cystinosis from a disease of despair
treatment for those with Cystinosis under the brand name to one of hope, and perhaps someday no child or family will suffer from the ravages of this disease.
Cystagon. It still needed to be taken every 6 hours.
In spite of our best efforts and compliance with the medication There have been many lessons I have learned on this now 27-year
regimen, Steve developed end stage renal failure at about age journey with Cystinosis. The ‘Truth’ that stays close to my heart
10 ½ years of age. He was on hemodialysis for about 6 weeks always, is knowing that value, beauty and quality of a life are not
before receiving a living related donor transplant in June 1999 measured in years, but in the number of lives touched. The beauty
at age 11. I was blessed to be a close enough match to be his of the lives of our loved ones with Cystinosis is immense.
donor. Since then he has been mostly stable. While some meds To learn more about Cystinosis, please visit CRN’s website at
changed, he still takes many doses every day. He finished high https://cystinosis.org/
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