Join the Cystinosis Community at the 2019 Family Conference!

May is Cystinosis Awareness Month!

During the month (and all year long!) we strive to bring together the cystinosis patient community and their families — and the Cystinosis Research Network’s annual Family Conference is a great way to achieve just that!

What is Cystinosis?

Cystinosis is an inherited disorder that leads to the build-up and crystallization of the amino acid, cystine, in cells of the body. If left untreated, this crystallization can cause organ damage, kidney failure, or death. The general umbrella term of “cystinosis” manifests in three clinical types:

  1. Nephropathic—The most severe form of cystinosis, cystinosis nephropathic is typically diagnosed in late infancy. Early symptoms include excessive thirst, rickets, corneal crystals (crystallization in the eyes), and renal Faconi syndrome (nutrient loss through the urine).
  2. Intermediate—Intermediate cystinosis is largely the same as nephropathic cystinosis, but it develops later in a person’s life. Kidney damage and corneal crystals remain primary symptoms.
  3. Non-nephropathic (Ocular)—Non-nephropathic (or ocular) cystinosis is also characterized by corneal crystals. However, unlike their counterparts, individuals with this type of cystinosis tend to lack other severe symptoms. This absence contributes to the large variance in age of diagnosis.

Cystinosis affects a larger percentage of people (1 in 26,000) in Brittany, France, but the global estimate is closer to 1 in 100,000 to 200,000 individuals. There are only about 2,000 cases worldwide and cystinosis nephropathic is the most common.

To learn more about cystinosis, click here!

2019 Family Conference

The 2019 Family Conference will be held July 18th – 20th in Philadelphia! It’s theme — Ring in the Future — symbolizes the push for a better and more hopeful tomorrow for the community.

And according to the Cystinosis Research Network, the Family Conference will have great opportunities to:

  • Learn about new research findings
  • Receive updates from international cystinosis organizations
  • Meet and renew friendships with other individuals and families
  • Have the opportunity to participate in research studies, and
  • Interact one on one with many of the world expert clinicians treating and researching cystinosis

So whether you are personally in the cystinosis community or know someone who is, please spread the word of this wonderful event that will make a huge impact in the lives of those who live with the rare disease. 


How are you supporting Cystinosis Awareness Month? Share your stories, thoughts, and hopes with the Patient Worthy community!

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