Cystinosis: one family’s journey with a rare disease

Terri Schleuder

Cystinosis Research Network

Terri Schleuder serves on the Executive Board of the non-for-profit organisation, Cystinosis Research Network, where she helps raise awareness of this rare disease. Here, she tells her story about how the introduction of the Orphan Drug Act 1983 changed her life, her son’s life and many other patients’ lives for the better.

My husband and I did not notice the passage of the Orphan Drug Act in 1983. We were new parents immersed in the wonder of our first born, five years later that would change.

Steven, our third son, arrived on February 13, 1988. He weighed 3.63 kg had blond hair, blue eyes and was beautiful.

Between six and nine months of age, Steven’s growth stopped and his appetite became non-existent. What little food he did eat was frequently vomited back. The only thing he seemed to crave was water which he drank constantly. Even so, his lips and tongue always looked dry, and his diapers soaked his clothes and sheets daily. After he was hospitalized for the first time at eleven months old, we learned that Steven was anemic and had several electrolyte abnormalities. This was the beginning of a seven month odyssey with various specialists looking for answers. At eighteen months of age, Steve weighed less than 6.8 kg. He had loose, translucent skin that hung in folds, huge blue eyes that peered through sallow skin, and wispy blond hair that fell out in clumps. He suffered with dehydration, severe anemia, metabolic acidosis, electrolyte abnormalities, severe failure to thrive, and renal failure.


“Currently, there are approximately 2,000 people in the world with cystinosis, 500 of them in the United States and 800 in Europe.”


In July 1989, we arrived at the University of Michigan’s Pediatric Nephrology Department and finally found answers. Cystinosis was suspected and confirmed a few days later with a blood test. Though we were happy to know what to fight, it quickly became clear what a difficult, uphill battle that fight would be.

Cystinosis is a very rare autosomal recessive genetic disease. First identified in 1903, it attacks the body at the cellular level. The amino acid cystine accumulates in the lysosomes of the cells forming crystals of cystine that damage virtually every organ in the body. The kidney is most severely damaged early on1.

The early symptoms of cystinosis include frequent vomiting, severe failure to thrive, dehydration, electrolyte imbalances, anemia, rickets, and kidney failure. Children with cystinosis stop growing, lose weight, crave salt and drink water insatiably. This is to compensate for the kidney defect that impairs its normal ability to reabsorb water and various electrolytes. This is called Fanconi’s syndrome. Later, severe photophobia and painful corneal ruptures can occur as cystine crystals accumulate in the cornea. Before the 1970s, cystinosis was fatal by age 121. Currently, there are approximately 2,000 people in the world with cystinosis, 500 of them in the United States and 800 in Europe2.

We learned rare diseases are those affecting less than 200,000 people. Called orphan diseases, drugs that treat them are called orphan drugs. Between 1967 and 1983, only 34 drugs were approved in the United States to treat 7,000 rare diseases3.


“This ground-breaking legislation offered real hope to those suffering from rare diseases.”


In 1983, The Orphan Drug Act (ODA) was signed into law in the United States. This ground-breaking legislation offered real hope to those suffering from rare diseases. The ODA provided financial incentives to pharmaceutical companies to encourage the development, and production of drugs to treat rare diseases. These incentives included:

• Seven years of market exclusivity to companies who developed orphan drugs.

• Tax credits to cover portions of drug development costs.

• Close coordination with the FDA through the drug development process and priority FDA review of drugs for rare diseases3.

In the 30 years since the Orphan Drug Act was passed, 347 orphan drugs have been approved. Of those, 135 have been approved to treat non-cancer rare diseases4. Over 200 rare diseases are now treatable as a direct result of the Orphan Drug Act, including cystinosis4,5.

In the late 70’s, an investigational drug called cysteamine proved to be successful in removing cystine from the cells. This slowed the progression of the disease. It was the first successful treatment and along with supportive therapy and renal transplant, improved the prognosis of children with cystinosis greatly1.

Steve began taking cysteamine at twenty months of age and continues to take it every six hours each day. He received a G-tube at twenty-three months of age to deliver medications and nutritional supplements that helped him stabilize, it was removed when he was nine. In 1999 at the age of eleven, after a ten year battle with kidney failure, he received a successful kidney transplant. Since then there have been more good years than bad ones.



“If successful, that would be three FDA approved medications to treat a rare disease affecting 2,000 people worldwide.”


In 1994, Cysteamine, trademarked as Cystagon, was FDA approved as a treatment for cystinosis. It was the 42nd orphan drug to receive approval because of the Orphan Drug Act4. In October 2012, a cysteamine-based eye drop, called Cystaran, was also approved6. A delayed release formulation of cysteamine, (RP103), trademarked as Procysbi, that can be taken twice a day is currently under FDA review7. If successful, that would be three FDA approved medications to treat a rare disease affecting 2,000 people worldwide. This would not have happened without the Orphan Drug Act.

What does this mean for families like ours? Though there will always be challenges, it means our son will see his 25th birthday in February. He will graduate from college in December, and will have the chance to embrace adulthood on his terms.

Our family has walked this path for twenty-five years now, a long time for reflection. While the challenges and pain have been intense at times so too have been the blessings. We’ve found the best of the human spirit along this journey. The most important lesson we’ve learned, is inside life’s toughest challenges are its greatest gifts.


1. Gahl, W. A., J. G.Thoene, and J. A. Schneider, Cystinosis, N Eng J of Med 2002. 347(2): p. 111-121

2. Raptor Pharmaceutical Corp., Nephropathic Cystinosis, Available from:

3. Kesselheim, Aaron, Innovation and the Orphan Drug Act, 1983-2009: Regulatory and Clinical Characteristics of Approved Orphan Drugs, edited by M.J. Field, T.F. Boat, National Academies Press, Washington D. C., 2010, available from:

4. Sasinowski, Frank, Quantum Effectiveness Evidence on FDA’s Approval of Orphan Drugs, Available from:

5. National Organization for Rare Diseases Press Release: Landmark NORD Study Concludes FDA is Flexible in Reviewing Therapies for Rare Diseases, Oct. 11, 2011, available from:

6. Sigma-Tau Pharmaceutical, Inc. press release: Sigma-Tau Pharmaceuticals, Inc., Receives FDA approval of Cystaran….for Treatment of Corneal Cystine Crystals in Cystinosis Patients, Oct. 4, 2012, available from:

7. Raptor Pharmaceutical Corp. press release: Raptor Pharmaceutical Corp. Provides Update on PROCYSBI™ NDA Review Dec.21, 2012, available from:

Additional resources

Learn more about Cystinosis, Rare diseases, and Orphan Drugs at the following web sites:

• Cystinosis Research Network:

• National Organization for Rare Disorders (NORD):

• Eurordis Rare Disease Europe:




About the author:

Terri A. Schleuder lives in the United States in Novi, Michigan with her husband, Carl. A former nurse, who currently works in Education, she has three grown sons. Steven, the youngest, has cystinosis.

Terri is serving on the Executive Board of the Cystinosis Research Network as its Secretary. CRN is an all-volunteer, non-profit organization dedicated to supporting and advocating research, educating the public and medical communities about cystinosis, and supporting cystinosis patients and their families.

How can we continue to raise awareness of rare diseases?