Oliver Against the Odds

Advocacy extends beyond the medical landscape. We stand with Renee Nicole Good, we stand with immigrants.

In 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.

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

Interpretation: In , the faulty protein doesn’t just trap cystine—it also disrupts how cells produce energy and manage nutrients. For Oliver this means we are constantly chasing weight gain, and upping calorie intake way higher than a normal 2 year old would need. Thank goodness for his

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

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

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

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

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

Interpretation: Scientists grow cells from patients in labs to test how 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 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 patients.

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

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

In 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 buildup.

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

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

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

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

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