An Amazingly Simple Solution for Better Cystinosis Care

Cystinosis is a metabolic disease in which the amino acid cystine crystallizes and then begins to accumulate in the kidneys, eyes, liver, and white blood cells.

Children are typically diagnosed with cystinosis before their second birthday.

If left untreated, children with the disease are at risk of dying of end stage renal failure before their 10th birthdays.

Complications can include:

  • muscle wasting
  • diabetes
  • trouble swallowing
  • thyroid problems

Over the past 20 years, treatments have greatly improved the prognosis for many patients, and as a result, more and more people are living longer and in better health.

Something we can all feel good about. Source:

Doctors recommend their patients have their white blood cells tested for cystine accumulation at three month intervals. This is done through a simple blood test and ensures the patients’ treatment plans are still appropriate.

If you have cystinosis and this is not part of your care plan, talk to your doctor about the WBC cystinosis accumulation test.

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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