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Jen is a hypothetical patient living with cystinosis College
College is an exciting time for Jen, but her newfound independence also means she has less support managing her care. Her campus life—classes, dorm activities, and late-night study sessions—is disrupted by gastrointestinal (GI) symptoms, such as vomiting, difficulty swallowing, diarrhea, abdominal pain, and early satiety.1
College
GI issues in cystinosis impact quality of life and further compromise disease outcomes by hindering drug absorption and undermining patient adherence.1
GI complications are caused by the accumulation of cystine crystals and the effect of oral cysteamine.1
Jen’s nephrologist promptly refers her to a gastroenterologist and sets up a call to discuss her case personally.
Jen is a hypothetical patient living with cystinosis.
First Job
In her new job, Jen experiences symptoms of photophobia caused by corneal cystine accumulation.2 Fluorescent office lights increase her eye pain, trigger migraines, and intensify her blurred vision, making computer work unbearable.
Jen’s nephrologist refers her to an ophthalmologist for comprehensive eye care, encourages her to stay up to date on her eye examinations, and explains the need for specialized eye care for cystinosis patients.
Jen is a hypothetical patient living with cystinosis.
Community & Support
Jen feels overwhelmed and isolated by the combined challenges of adult responsibilities and managing her cystinosis care and complications. Connecting with other cystinosis patients offers her a social network of support.
Jen's nephrologist gives Jen a list of community-based resources, connecting her to support organizations dedicated to those living with cystinosis.
Jen is a hypothetical patient living with cystinosis.
Moving
Jen is buying her first home but is overwhelmed as she tries to manage her cystinosis care.
Managing feelings of sadness, depression, anger, and pressures of time management are significant emotional concerns for adults with cystinosis. Juggling daily stressors and other emotional burdens can cause setbacks in overall treatment adherence.3
Jen's nephrologist recognizes the impact cystinosis is having on her mental health and arranges a consultation with a mental health specialist.
Jen is a hypothetical patient living with cystinosis.
Emotional and Mental Health Concerns in Adults/Emerging Adults With Cystinosis3
Family Planning
As Jen and her partner contemplate starting a family, Jen worries about the potential impact of cystinosis on her pregnancy and the health of her future child.
Jen's nephrologist refers her to a geneticist specializing in reproductive health who is familiar with cystinosis.
Jen is a hypothetical patient living with cystinosis.
During preconception genetic counseling, Jen and her partner learn about familial recurrence risks, review genetic screening and testing options, and receive education about potential reproductive choices.4
Inheritance Risks for Children of Patients With Cystinosis4
Daily Activity
Jen wrestles with myopathy and the neurologic symptoms of cystinosis that make everyday tasks difficult—holding her cell phone, tying her shoelaces, remembering things, and staying focused.5 These daily struggles underscore the need for additional specialized intervention.
Her nephrologist refers her to a neurologist they can partner with to help manage the neurocognitive challenges.
Jen is a hypothetical patient living with cystinosis.
The following neurocognitive assessments are recommended for cystinosis patients2:
Learn more about the challenges and strategies for managing the transition of care for patients entering adulthood.
1. Joseph MW, Stein DR, Stein AC. Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives. Pediatr Nephrol. Published online February 23, 2024. 2. Levtchenko E, Servais A, Hulton SA, et al. Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients. Clin Kidney J. 2022;15(9):1675-1684. 3. Cystinosis Research Network. Living with Cystinosis Survey Results. Cystinosis.org. Published January, 2011. Accessed May 7, 2024. https://cystinosis.org/wpcontent/uploads/2019/01/UpdatesFeb2011_LivingwithCystinosisSurveyResults.pdf 4. Langman CB, Delos Santos RB, Ghossein C, Atherton AM, Levtchenko EN, Servais A. Fertility management in cystinosis: a clinical perspective. Kidney Int Rep . 2023;9(2):214-224. 5. Kasimer RN, Langman CB. Adult complications of nephropathic cystinosis: a systematic review. Pediatr Nephrol . 2021;36(2):223-236. 6. Servais A, Saitovitch A, Hummel A, et al. Central nervous system complications in adult cystinosis patients. J Inherit Metab Dis . 2020;43(2):348-356.
