If Someone You Love Has Cystinosis, You Know the Importance of Organ Donation

Cystinosis breaks my heart. Why, you may ask? Because it robs children of their childhood. I’ll explain in a moment–but first, let me give you a general overview of the disease.

Cystinosis presents in three different forms:

  • Infantile (nephropathic) cystinosis
  • Late onset cystinosis
  • Benign cystinosis

The most common form, infantile cystinosis, is also the most severe and ultimately heartbreaking. When these kids are born, everything seems normal, but before they reach their first birthday, symptoms including excessive thirst, failure to gain weight, and excessive urination begin. What is happening is their bodies aren’t able to break down the amino acid cystine which then begins to accumulate in cells. Eventually, crystallized cystine settles in the eyes, causing extreme light sensitivity. It also affects the kidneys, and many children end up in end-stage renal failure around the age of nine. Their only option is a kidney transplant. That, dear reader, is why I really hate cystinosis, which by the way, is a genetic autosomal recessive disorder–certainly nothing anyone would ask to have.

If you’ve ever had a loved on the list to receive an organ transplant, you know how harrowing it can be. The main question is will an organ be found in time? Kidneys and the liver are two that can be donated from a person who is still living. (A healthy person can get by just fine with one kidney.)

Most people decide to donate their organs, tissue, skin, etc., after death. One person can have a positive impact on hundreds of people. If you are retirement age, you might wonder if you’re too old? Donate anyway! The vast majority of the population doesn’t have medical training, so we’re largely unaware of the many benefits that result from being a donor. Don’t rule yourself out!


Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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