Cystinosis Community Takes Capitol Hill with Unified Voice for Rare Disease

New federal legislation may jeopardize financial support and reimbursement for rare diseases

Jan 28, 2013, 07:30 ET from Cystinosis Foundation from ,Cystinosis Research Network from

WASHINGTON, Jan. 28, 2013 /PRNewswire/ -- Today ten families of patients with a rare disease called cystinosis and three foundations supporting cystinosis research tell their stories to policymakers on Capitol Hill in an effort to educate lawmakers about rare diseases like cystinosis and how upcoming federal spending decisions could impact the availability of medicines for rare diseases. Cystinosis is a metabolic lysosomal storage disease that is diagnosed in infancy and often results in kidney failure, muscle wasting and premature death.  It affects every cell in the body and, if left untreated, those afflicted usually die by the age of ten.  With sequestration discussions approaching, cystinosis patients and caregivers are calling on Congressional leaders to protect and build upon policies such as the Orphan Drug Act that encourage investment in rare disease research and drug development.

"2013 marks the 30th anniversary of the Orphan Drug Act.  The great successes and precious lives saved give us perspective on the remaining unmet needs for rare diseases like cystinosis," said Valerie Hotz, executive director of the Cystinosis Foundation and aunt of 31-year-old Joshua Hotz who was diagnosed in 1982 when there was no treatment available. "The Orphan Drug Act provided incentives for industry to invest in research for rare disease treatments, but if those novel treatments become available and insurers and the government do not provide coverage and reimbursement for those treatments, then in reality we have not progressed."

Representatives from Congress will be meeting with constituents like Katie Larimore whose 7-year-old daughter suffers from cystinosis. Diagnosed with cystinosis when she was 18 months old, Katie's daughter Sarah is unable to breakdown a toxic waste in her body called cystine. Each day, Sarah takes 33 pills, seven gastric tube feedings, one growth hormone injection, and 14 eye drops to prevent blindness.

"Diseases like cystinosis don't get the same attention from researchers and drug development companies as more common diseases, even though they have the knowledge and resources to find cures," said Jeff Larimore, Sarah's father and president of the Cystinosis Research Network. "Our kids with rare diseases deserve as much of a chance as kids with common diseases. Sequestration cuts could threaten NIH funding, FDA orphan development grants, SBIR grants and federal reimbursement for orphan drugs.  We are calling on our legislators to preserve and protect the federal commitments that serve rare disease patients and promote the work of innovative biotech companies like Raptor Pharmaceuticals."

Called orphan diseases because they are so rare that they are often abandoned by researchers, raising funds for research is difficult. Because the patient populations for rare diseases are so small, drug makers are often discouraged from taking on the high R&D and commercial risks without government incentives or assurances. Cystinosis, for example, is estimated to afflict only 500 people in the U.S. The Orphan Drug Act provides certain incentives such as financial subsidies for drug development, tax incentives and extended marketing rights.  Currently, Medicaid and Medicare provide reimbursement for Orphan Drugs.

Despite the mortal consequences of cystinosis, nine out of ten cystinosis patients fail to consistently take their cystine depleting medicine because of the unforgiving dosing schedule every six hours, painful stomach side effects, and a repulsive odor that makes patients smell like rotten eggs. 

"The only medicine we have for cystinosis causes severe gastrointestinal side effects and must be taken every six hours.  CRF funded the researchers who discovered the delayed release medication but our mission to find a cure continues," said Nancy Stack, president of the Cystinosis Research Foundation and mother of a 21-year-old daughter with cystinosis, whose life has been improved with study of a new treatment engineered for sustained cystine control with just two doses a day. "And when innovative new medicines for rare disease become available, patients face challenges in accessing the medicines due to reimbursement issues. We want to ensure that lawmakers understand how important it is to support cystinosis research and to ensure that patients can access the drugs they desperately need in order to live longer, more normal lives."

About the Cystinosis Foundation

The Cystinosis Foundation is a non-profit organization with 30 years of international experience in supporting and educating families and the medical community through the dissemination of educational literature, funding research and annual conferences. The Cystinosis Foundation was established in 1983 and led an advocacy campaign supporting the Orphan Drug Act which Congress passed that year. More information is available at

About the Cystinosis Research Network

The Cystinosis Research Network is an all-volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about Cystinosis. More information is available at

About the Cystinosis Research Foundation

The Cystinosis Research Foundation was established in 2003 with the sole purpose of raising funds to find better treatments and a cure for cystinosis.  Today, CRF is the leading source of grants for cystinosis research in the world, providing $16.5 million for 103 studies and fellowships in 11 countries.  All of CRF's administrative costs are privately underwritten.  More information is available at

SOURCE Cystinosis Foundation; Cystinosis Research Network; Cystinosis Research Foundation