Dark blue square graphic with white text that reads, “Let’s Get Creative!! Open Submission call for Fractal Whispers.” Below, smaller text explains that Next Generation of Cystinosis is seeking creative writing and art submissions from adults with cystinosis—poetry, fiction, creative non-fiction, photography, drawings, and more—for a new zine called Fractal Whispers, with submissions due by May 4th, 2026 and sent to NextGenerationofCystinosis@gmail.com. In the lower left corner is a circular logo with the words “Next Generation of Cystinosis” around the initials “NGC,” and in the lower right corner is a black quill pen and inkwell illustration.

from the Vox editorial team @paceuniversity.bsky.social to launching a brand new zine! my former student Amanda Leigh is partnering with NGC to showcase the voices of adults living with #Cystinosis. seeking writing & art #submissions by 5/4/26
please help spread the word.

From Wish to Reality — The Gene Therapy Initiative at UC San Diego A young patient’s wish sparks a decades long partnership that leads UC San Diego to pioneer life changing gene therapies, transforming cystinosis care and advancing treatments for many diseases.

From a wish on a napkin to a pioneering #genetherapy, @UCSanDiego.bsky.social Gene Therapy Initiative is transforming lives. Natalie Stack's #cystinosis journey shows how #research, families, and hope can change the future. 💙🧬 #BehindEveryBreakthrough

Nephropathic cystinosis: fibrosing colonopathy can also be seen long after introduction of delayed release cysteamine - Pediatric Nephrology Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by systemic cystine accumulation. Cysteamine is the only currently approved cystine-depleting therapy, available in…

Case report: Nephropathic #cystinosis : fibrosing colonopathy can also be seen long after introduction of delayed release cysteamine
#nephsky

This Is Me: Disability and Spiritual Abuse Image by Lily from Pixabay By Rebekah Palmer This essay was first accepted to be included in a story collection supporting National Organization of Rare Disorders, Inc. (NORD), a project titled Kal…

"The father of the teenage male who sexually abused me is the youth pastor until my church and school hires someone else. They keep coming to sing to me in my hospital room."

vashtiinitiative.org/2023/06/12/t...

#spiritualabuse #disability #chronicillness #deconstruction #cystinosis #lymphoma

Part 1: Origin Story
When my son was born we had no idea what his little boys would be put through all before turning one. Follow along for the full series. #rarediseasecaregiver #cystinosis

Oliver’s feeds: 7 syringes x 65mL x 4 feeds/ day. His tolerance of this is up, but one little sniffle, a planet in retrograde (probably), or his mood can cause more puking. But the data/ growth charts say this cadence is working. He is growing, labs are good. #cystinosis #rarediseasecaretaker

My 2yo son has a rare genetic disorder called #nephropathicCystinosis this is considered a #lysosomalstoragedisorder meaning his cells don’t properly dispose of a protein called cystine and when that builds up it creates crystals which cause organ damage. #caretaker #raredisease #momlife #cystinosis

Showing up for ME. That IS showing up for my #raredisease kiddo. Making time and space for myself is leading by example. I don’t know who needs to hear this today. But you’re doing a good job. You’ve got this, mama. #cystinosis #momlife #singlemom #caregivers #raredisease

In #cystinosis patients, mutant cystinosin proteins are degraded via ER-associated pathways, worsening the defect.

Interpretation: in Oliver's body- quality control systems destroy the faulty protein, making cystine buildup worse.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Growth retardation in #cystinosis children is linked to nutrient losses from Fanconi syndrome.

Interpretation: Kids stay small because their bodies lose too much protein, sugar, and minerals through pee. 

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Researchers use patient-derived kidney cell lines to study disease mechanisms in #cystinosis.

Interpretation: Scientists grow #kidney cells from patients in labs to test how #cystinosis works and find new treatments.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Cystinotic cells show impaired vesicular trafficking and defective protein recycling, in #cystinosis patients

Interpretation: Oliver's cells can’t properly move or recycle proteins, causing waste buildup and dysfunction.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Oxidative stress from cystine accumulation damages proteins and organelles in #cystinosis patients. 

Interpretation: #Cystine creates toxic molecules that fry cell parts like mitochondria, worsening organ damage.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

In #cystinosis patients: Proximal tubule cells are uniquely vulnerable due to high lysosomal activity.

Interpretation: Kidney cells have more lysosomes than other cells, so they’re hit hardest by #cystine buildup.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

In #cystinosis patients: Lysosomal cystine disrupts cellular processes like autophagy, mTOR signaling, & redox balance.

Interpretation: #Cystine doesn’t just sit, it messes up cell recycling, growth signals, & antioxidant defenses.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Hypophosphatemic rickets is common due to phosphate wasting in #cystinosis patients 

Interpretation: Weak, bent #bones develop because the kidneys leak phosphate, a mineral critical for bone strength.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

#Cystinosis is the leading genetic cause of Fanconi syndrome in children.

Interpretation: When doctors see #FanconiSyndrome in kids, cystinosis is the top genetic suspect. In Oliver's case a genetic test confirmed the issue. 

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Without cysteamine, patients with #cystinosis rarely survive beyond the second decade.

Interpretation: Oliver will be on Procysbi for life, and this medication/ medical research are the things giving him a chance at life. 

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

To treat #cystinosis delayed-release #cysteamine (Procysbi®) improves adherence but is costly.

Interpretation: A newer version of the cystine depleting therapy has fewer daily doses but is expensive, limiting access for many.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Side effects of cysteamine include gastrointestinal issues and a distinctive body odor, for #cystinosis patients.

Interpretation: The meds can upset the digestive system and cause a sulfur smell, making social life harder for kids.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

#Cysteamine must be taken lifelong, every 6 hours, to maintain cystine depletion in #cystinosis patients.

Interpretation: Patients take this medicine around the clock, every 6 hours, for life—missing doses risks organ damage.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Newborn screening for #cystinosis is not widely available, delaying diagnosis.

Interpretation: Most babies aren’t tested at birth, so families often face a long, scary journey to get answers.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Diagnosis for #cystinosis involves measuring leukocyte cystine levels or genetic testing for CTNS mutations.

Interpretation: Doctors test white blood cell cystine levels or run genetic tests. Oliver had both for diagnosis. 

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Three forms of #cystinosis exist: infantile (95% of cases), juvenile, and non-nephropathic (ocular).

Interpretation: Most cases, like Oliver, have the severe infantile type; a few have milder forms that mainly affect the eyes.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

#Cystinosis affects 1 in 100,000–200,000 globally, with higher rates in consanguineous populations.

Interpretation: It’s extremely rare, but more common in communities where relatives marry (increasing risk of genetic mutations).

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Animal models (e.g., cystinotic mice) aid in testing novel therapies like #stemcells.

Interpretation: Mice with #cystinosis help researchers trial cutting-edge treatments before human trials. 🔬🐀

 Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

#Cystinosis research highlights the importance of lysosomal function in #kidneyhealth.

Interpretation: Studying this disease teaches us how #lysosomes—often overlooked—are vital for kidney survival. 

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

In #cystinosis corneal cystine crystals cause photophobia and vision problems if untreated.

Interpretation: These crystals make eyes painfully sensitive to light, requiring sunglasses and eye drops. Oliver ALWAYS had this symptom. 

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Extrarenal complications (eye, thyroid, muscle, brain) emerge after age 10, in #cystinosis patients, even with treatment.

Interpretation: By the teens, body parts like #eyes and #muscles start failing, even if #kidneys are managed.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Early #cysteamine therapy delays ESRD but doesn’t cure #cystinosis or reverse #FanconiSyndrome.

Interpretation: Starting medication early buys time but doesn’t fix the kidneys or stop nutrient loss—it just slows decline.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.