By: Heather Fields Rothrock, Member, Board of Directors, Cystinosis Research Network 

Introduced in 2018, the Cystinosis Research Network (CRN) deemed May 7 as Cystinosis Awareness Day aimed at raising awareness of the disease, sharing stories from those affected, and showing support through advocacy, education, and fundraising. May 7, or 5/7, is representative of the most common genetic mutation causing Cystinosis, the 57-kb deletion in the CTNS gene. This year’s Awareness Day campaign will focus on #CystinosisStereotypes, more specifically how those living with Cystinosis are breaking through these and removing the barriers that Cystinosis can inherently impose.    

Cystinosis Explained  

Cystinosis is a rare genetic lysosomal storage disease, characterized by defective transport and abnormal intracellular accumulation of the amino acid cysteine, resulting in the formation of damaging crystals throughout the body’s tissues and major organs. Of the 3 types of Cystinosis, nephropathic Cystinosis is the most common and severe form, beginning in utero and typically diagnosed within the first few years of life. The diagnostic journey is usually complicated yet overtly similar- the infant or young toddler experiences excessive urination and thirst, lack of appetite, vomiting and failure to thrive, leading to the discovery of electrolyte imbalance(s) caused by renal Fanconi Syndrome, and ultimately resulting in a diagnosis of Cystinosis, confirmed by elevated white blood cell cysteine and/or genetic testing. 

Once diagnosis is confirmed, Cystinosis patients are fortunate that in the United States there is an FDA-approved treatment (cysteamine) for cysteine depletion, prescribed in an oral version and as eye drops (as the oral cysteamine is not able to reach the cornea effectively). Compliance is difficult given the young age at diagnosis and gastrointestinal tolerability, especially in conjunction with the other medications given to supplement electrolyte losses from Fanconi Syndrome. Though it is further complicated by foul taste and causing a foul smell, cysteamine therapy is critical in slowing the progression of kidney failure, and ultimately delaying the need for transplant(s). Many children with Cystinosis receive a gastronomy tube to manage the rigid medication and nutrition regimens and are followed closely by multi-specialty teams for ongoing management, often including nephrology, ophthalmology, gastroenterology, endocrinology, nutrition, pharmacy, and others as needed.   

The Cystinosis Community, Small but Mighty 

Cystinosis affects 1 in 100,000-200,000 live births globally with roughly 500-600 people diagnosed in the United States and 2,000 people worldwide. It is equally prevalent among males and females with an estimated 20 new cases diagnosed per year. Starting as a small group of parents in 1996, the CRN has attempted to reach and connect all Cystinosis families, especially those facing the bleak uncertainty of a new diagnosis. With a strong backing from the medical and scientific communities, CRN has grown into an internationally recognized rare disease advocacy organization maintaining robust relationships with organizations like Global Genes, National Organization for Rare Disorders (NORD), and EveryLife Foundation, and participating in large scale advocacy events like Rare Disease Week on Capitol Hill. Additionally, CRN has exhibited at professional meetings around the country, including the American Society of Nephrology (ASN) and American Society of Pediatric Nephrology/Pediatric Academic Society (ASPN/PAS). CRN also provides direct support to individuals living with Cystinosis and their families through hosting a biennial event for families, medical symposiums for industry providers, and most recently, the Cystinosis Warrior Impact Program, aimed at positively impacting every individual living with Cystinosis through various categories including financial, medical, and educational, just to name a few. Finally, CRN is committed to future development through supporting and funding $5.5 million in research grants and fellowships targeting improved treatments and ultimately a cure for Cystinosis. Regarding a cure, there is promising research and a recently acquired stem cell gene therapy program with successful clinical trials in 5 Cystinosis patients! 

Overcoming the #CystinosisStereotypes, Together 

Unquestionably, those affected by Cystinosis face medical complexities that the average healthy person has generally never considered, not the least of which is incorporating a rigorous medication schedule into daily life and the inevitable kidney transplant. However, those affected by Cystinosis and their caregivers agree that the empathy and reassurance found in the Cystinosis community is paramount for navigating this disease, and the ability to lean on each other’s shared experiences and common goals for improving quality of life with Cystinosis. CRN and its families are entrenched in the current management of Cystinosis, and anxiously awaiting future developments, including curative stem cell therapy.  

Join our community on May 7 this year and every year as we celebrate our promising future and commemorate those that helped us pave the way to where we are today. Because of these efforts, our community will not be held back by Cystinosis, and we are proud to share the #CystinosisStereotypes we are able to overcome. For more information, please visit our website at https://cystinosis.org.  

The Cystinosis Research Network (CRN) is a member of the National Health Council. For more information on NHC membership, please email membership@nhcouncil.org.