Author | Lightnews

Oliver Against the Odds

@oliveragainstodds.bsky.social

8 followers 6 following 110 posts

Rare Disease Warrior. Storyteller. Hope-Builder. 🌟 On a mission to crack open the conversation. Through Oliver’s journey, we’re turning struggles into sparks for change, advocating for healthcare access that doesn’t just exist but empowers.

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Oliver Against the Odds @oliveragainstodds.bsky.social · Apr 29

Meet Oliver. Warrior. Storyteller. Hope-Builder. On a mission to crack open the conversation. We turn struggles into sparks for change, advocating for healthcare access that doesn’t just exist but empowers. Join us in rewriting the narrative—because #RareIsEverywhere, and every voice matters.

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Oliver Against the Odds @oliveragainstodds.bsky.social · Jul 22

This disease is rare but his #diagnosisjourney is not. With "good" insurance we thought Oliver was "covered" but during his health crisis the first 6-figure bill came with an impossibly close deadline. #Medicaid stepped in where private insurance failed us. #SaveMedicaid. Save lives, like Oliver’s.

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Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 30

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 30

Cystinosin’s role extends beyond cystine transport, influencing cellular metabolism.

Interpretation: In #cystinosis, the faulty protein doesn’t just trap cystine—it also disrupts how cells produce energy and manage nutrients.

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

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 29

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 29

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 28

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 27

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 26

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 25

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 24

Stem cell transplantation in mice improved renal function, suggesting future therapies.

Interpretation: Early animal studies hint that stem cells might someday repair damaged kidneys in humans.

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

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 24

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 23

#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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 23

#Kidney transplants extend life but don’t address extrarenal complications in #cystinosis.

Interpretation: Transplants only replace a failing kidney, this won't stop other organs like eyes or muscles from breaking down.

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

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 22

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 22

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 21

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 20

#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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 19

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 18

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 17

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 17

Multidisciplinary care (#nephrology, #endocrinology, #ophthalmology) is critical for management of #cystinosis.

Interpretation: Teams of kidney, hormone, eye specialists and more work together to keep Oliver alive.

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

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 16

#GeneTherapy and molecular chaperones are being explored as potential treatments for #cystinosis.

Interpretation: Scientists are testing ways to fix the genes themselves, google it - its pretty neat. 🧬🤯

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

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 16

#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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 15

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.

Oliver Against the Odds @oliveragainstodds.bsky.social · Jun 15

#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.