Next Generation of Cystinosis is currently looking for industry funding for more accurate data on adults aging with cystinosis. We have hopes to begin a survey in the near future showing the collective experiences of adults living with the financial, medical, relational, and social burden of cystinosis. This information becoming available to medical professionals would greatly assist the quality of life for adults with cystinosis as we age alongside our able-bodied peers.
A recently published survey co-authored by our co-founder Rebekah Palmer, pharmacologist Dr. Jeanine Jarnes, and geneticist Dr. Chester Whitley revealed the varied multistsystemic effects cystinosis has on an adult .
▪︎ Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult
Jeanine R. Jarnes ∙ Rebekah S. Palmer ∙ Chester B. Whitley https://www.kireports.org/article/S2468-0249(24)02007-2/fulltext?fbclid=IwZXh0bgNhZW0CMTEAAR1eCTaOV9SkYSoKK_NrzxIKSe6amD89zq0MI9Jgyfb3OfClmbiWhhidojU_aem_uWrGUBZib0Lbt-R0nMkOng
Infant
– Fanconi Syndrome
– Rickets
– Failure to thrive
– GI symptoms
Child
– Neurocognitive differences
– Corneal cystine crystals
– Photophobia
– Kidney failure
– Hypothyroidism
– Pubertal delay
– Male hypogonadism
Adult
– CNS (Central Nervous System) effects
– Retinal blindness
– Myopathy, muscle wasting
– Difficulty swallowing
– Pulmonary dysfunction
– Diabetes mellitus
– Male infertility
– Pregnancy complications
- Without medical intervention, life expectancy is less than10 years
- Extension of life span into the 50s and beyond is possible with early diagnosis, diligent medical care, successful kidney transplantation, and adherence to treatment (Increased life expectancy has revealed extrarenal manifestations)
- Cystinosis places a significant burden on patients’ lives • Physical • Psychosocial • Academic, attention, and social interaction difficulties
“Physical health, psychosocial well-being, and overall quality of life are significantly affected for adults with cystinosis due to the multisystemic impacts of the disease and its treatments.”
– Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult
Jeanine R. Jarnes ∙ Rebekah S. Palmer ∙ Chester B. Whitley
Infantile Nephropathic Cystinosis
“Infantile Nephropathic Cystinosis, the most common and severe form of the disease, is an ultrarare autosomal recessive lysosomal storage disorder caused by variants in CTNS and characterized by progressive cystine accumulation and multiorgan damage.”
– Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult
Jeanine R. Jarnes ∙ Rebekah S. Palmer ∙ Chester B. Whitley
“Clinicians and patient advocacy groups must be willing to navigate the new and evolving landscape of cystinosis care, with the goals of better understanding what it means to live with cystinosis as an adult, and to develop collaborative strategies to address the unmet needs in this patient population.”
– Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult
Jeanine R. Jarnes ∙ Rebekah S. Palmer ∙ Chester B. Whitley
#AdultsLivingRare #CenteringOurNarratives #CenteringRareVoices #Cystinosis #CystinosisAdult #Hope #FanconiSyndrome #MultisystemicImpact #LysosomalDisease #ReimagineRare #Research #UltraRareDisease
Next Generation of Cystinosis 