Cystinosis Leave You Strapped for Cash?

Strapped for cash after a cystinosis diagnosis? Listen to this! There is a scholarship available to lighten the load of families who are dealing with the challenges that accompany cystinosis.


So what is cystinosis exactly? Cystinosis is rare and, unfortunately, can be fatal if undiagnosed.

It is a genetic metabolic disease that causes cystine to build up in different organs of the body. These cystine crystals build up in various areas, such as the kidneys, liver, muscles, pancreas, brain, eyes, and even white blood cells. There are many complications involved, including muscle wasting, diabetes, hypothyroidism, swallowing issues, and eyesight problems. The answer to the question “What is cystinosis?” is much deeper than the simple definition of the cause, because the symptoms can vary in both severity and location in the body. This means that explaining it simply or even diagnosing it can be difficult. It is often misdiagnosed or left undiagnosed.

Three Forms of Cystinosis

  1. Infantile Nephropathic – This form is the most severe form, and can be hard to diagnose because infants will appear normal at birth. However, their symptoms will begin to become more noticeable. They will be shorter than their peers at 10 months, have extreme thirst and frequent urination, and often be fussy. Cystinosis nephropathic can have a positive prognosis, if it is diagnosed and treated. The earlier the better.
  2. Intermediate Cystinosis or Juvenile Cystinosis – This form is more mild than its counterpart found in infants and toddlers. It mainly effects the kidneys and eyes and is often caught in the teenage or early adult years.
  3. Benign or Adult Cystinosis – This form effects mostly the cornea of the eyes, and with treatment, is the mildest form. Although, it should be noted that there is not a “good” or “easy” form of the disease. Cystinosis eye conditions are not only painful, they can impair or take away vision without treatment.

For people who do get diagnosed, the treatment can alleviate the symptoms, but there is not a cure. Occasionally, the illness progresses to the point where kidney failure occurs, and a transplant is needed. There is a Cystinosis Research Network that is making valiant efforts to spread awareness about the disease and increase knowledge on how to treat and even cure it. Foundations and networks like this can mean better treatment for patients in the future.

Living with cystinosis and heading to college? There are scholarships available!


The 2016 CRN Scholarship for an individual with cystinosis and the 2016 CRN Sierra Woodward Sibling Scholarship are designed to support families and people with the illness in achieving their educational goals. The application can be downloaded here. Scholarships like this, and other resources from the Cystinosis Foundation, can help families realize they are not alone in this battle. They are supported emotionally, financially, and with increasing knowledge from the Cystinosis Research Foundation.

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