Oliver Against the Odds
@oliveragainstodds.bsky.social
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.
Pinned
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.
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.
July 22, 2025 at 12:46 AM
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.
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.
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.
June 30, 2025 at 5:01 PM
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.
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 #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.
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.
June 30, 2025 at 3:01 PM
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.
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.
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.
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.
June 29, 2025 at 5:01 PM
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.
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.
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.
June 29, 2025 at 3:01 PM
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.
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.
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.
June 28, 2025 at 3:01 PM
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.
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.
Interpretation: #Cystine creates toxic molecules that fry cell parts like mitochondria, worsening organ damage.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
June 27, 2025 at 3:01 PM
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.
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.
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.
June 26, 2025 at 3:02 PM
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.
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.
Interpretation: #Cystine doesn’t just sit, it messes up cell recycling, growth signals, & antioxidant defenses.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
June 25, 2025 at 3:00 PM
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.
Interpretation: #Cystine 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
Interpretation: Early animal studies hint that stem cells might someday repair damaged kidneys in humans.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio
June 24, 2025 at 5:01 PM
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
Interpretation: Early animal studies hint that stem cells might someday repair damaged kidneys in humans.
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.
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.
June 24, 2025 at 3:02 PM
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.
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.
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.
June 23, 2025 at 5:01 PM
#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.
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.
#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.
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.
June 23, 2025 at 3:01 PM
#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.
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.
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.
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.
June 22, 2025 at 5:01 PM
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.
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.
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.
June 22, 2025 at 3:01 PM
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.
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.
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.
June 21, 2025 at 3:01 PM
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.
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.
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.
June 20, 2025 at 3:01 PM
#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.
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.
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.
June 19, 2025 at 3:02 PM
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.
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.
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.
June 18, 2025 at 5:02 PM
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.
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.
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.
June 17, 2025 at 5:01 PM
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.
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.
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.
Interpretation: Teams of kidney, hormone, eye specialists and more work together to keep Oliver alive.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
June 17, 2025 at 3:02 PM
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.
Interpretation: Teams of kidney, hormone, eye specialists and more work together to keep Oliver alive.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
#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.
Interpretation: Scientists are testing ways to fix the genes themselves, google it - its pretty neat. 🧬🤯
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
June 16, 2025 at 5:01 PM
#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.
Interpretation: Scientists are testing ways to fix the genes themselves, google it - its pretty neat. 🧬🤯
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.
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.
June 16, 2025 at 3:02 PM
#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.
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.
Interpretation: Mice with #cystinosis help researchers trial cutting-edge treatments before human trials. 🔬🐀
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
June 15, 2025 at 6:16 PM
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.
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.
Interpretation: Studying this disease teaches us how #lysosomes—often overlooked—are vital for kidney survival.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
June 15, 2025 at 5:01 PM
#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.
Interpretation: Studying this disease teaches us how #lysosomes—often overlooked—are vital for kidney survival.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.