Autoimmune Hepatitis (AIH) is a rare chronic liver disease in which the immune system attacks liver cells, causing inflammation that can lead to cirrhosis and liver failure without treatment. Learn more: aihep.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

IgG4-Related Disease (IgG4-RD) is a rare immune condition causing tumor-like swellings and organ-damaging fibrosis. Often mistaken for cancer, it affects nearly any organ. Learn more: igg4ward.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Cerebral Cavernous Malformation (CCM) causes clusters of fragile blood vessels in the brain or spinal cord that can bleed, triggering seizures, stroke-like episodes, and chronic headaches. Learn more: alliancetocure.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS): An ultra-rare disease affecting smooth muscle throughout the body, causing heart, brain, vascular, & organ complications from birth. Learn more: acta2alliance.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Intrahepatic Cholestasis of Pregnancy (ICP) is a rare liver disorder causing dangerous bile acid buildup in pregnancy. Early diagnosis and treatment are critical to protecting mother and baby. Learn more: icpcare.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Antiphospholipid Syndrome (APS) is a rare autoimmune disorder causing recurring blood clots and pregnancy complications due to abnormal antibodies. No cure exists, but treatment helps. Learn more: apsfa.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Pulmonary Arterial Hypertension (PAH): a rare disease where lung arteries narrow, forcing the heart to overwork. Affects ~50/million. Treatable but incurable. Learn more: phassociation,.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Renal Tubular Acidosis (RTA): a rare kidney disorder where tubule defects cause dangerous acid buildup, leading to bone disease, kidney stones & growth failure. Learn more: https://dub.sh/dRTA You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Retinal Vasculitis: a rare inflammatory disease of the eye's blood vessels that can cause irreversible vision loss. Often linked to Behçet's disease or sarcoidosis. Learn more: fightingblindness.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Hepatopulmonary Syndrome (HPS): a rare, life-threatening lung complication of liver disease causing severe low blood oxygen. The only cure is a liver transplant. Learn more: HPSCare.com You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Focal Segmental Glomerulosclerosis (FSGS): a rare kidney disease causing scarring of the kidney's filters, leading to kidney failure. Learn more: https://dub.sh/FSGS You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Autosomal Recessive Polycystic Kidney Disease (ARPKD): a rare inherited disorder causing kidney cysts and liver scarring from birth. Affects 1 in 20,000 children. Learn more: pkdcure.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Mounier-Kuhn Syndrome: a rare congenital disorder causing extreme airway dilation, trapped secretions, and recurrent lung infections. Fewer than 400 cases reported worldwide. Learn more: https://dub.sh/MKuhn You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Scimitar Syndrome: a rare congenital defect where a pulmonary vein drains to the wrong place, named for its curved shape on X-ray. Affects ~1-3 per 100,000 births. Learn more: https://dub.sh/Scimitar You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Liddle Syndrome: a rare genetic kidney disorder causing severe early-onset hypertension by overactivating sodium channels. One of the few rare diseases with a precise cause & targeted treatment. Learn more liddlesyndrome.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Epidermolytic Ichthyosis (EI): a rare genetic skin disorder causing severe blistering at birth that transitions to thick, dark scaling for life. Affects ~1 in 200,000. Learn more: https://dub.sh/MOcJwke You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Melorheostosis: an ultra-rare bone disease where cortical bone grows in a "dripping candle wax" pattern. Affects ~1 in 1,000,000 people. No cure, but treatments help manage pain. Learn more: http://www.melorheostosis.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Chronic Intestinal Pseudo-Obstruction (CIPO): a rare motility disorder where the gut acts blocked — with no blockage. Up to 1/3 of patients need lifelong IV nutrition. Learn more: https://dub.sh/CIPO You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Hailey-Hailey Disease (HHD): a rare inherited skin disorder causing painful blisters & erosions in skin folds. Triggered by heat & sweat, it has no cure but several treatments. Learn more: https://dub.sh/hhd1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Noonan Syndrome with Multiple Lentigines (NMSL/LEOPARD Syndrome): a rare genetic RASopathy causing skin spots, heart defects, short stature & hearing loss. Learn more: https://dub.sh/NMSL You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Leber Congenital Amaurosis (LCA): a rare inherited retinal disease causing blindness from birth. Luxturna, the first FDA-approved gene therapy for an inherited disease, treats one subtype. Learn more: fightingblindness.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

May 16th is World HAE Day 💙 As the CT Rare Advocate — and someone living with HAE with Normal C1 Inhibitor — this day is personal to me. You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness #HAEDay #HereditaryAngioedema #HAEAwareness

Vitreoretinal Lymphoma (VRL): a rare eye cancer that hides as uveitis, delaying diagnosis. Up to 90% of patients develop brain involvement within a year. Median survival: 2–3 years. Learn more: lymphoma.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Noma (Cancrum Oris): a necrotizing facial infection killing 90% of untreated children. Preventable. Treatable with antibiotics if caught early. WHO named it a neglected tropical disease in 2023. Learn more: elysium-nsa.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Pulmonary Capillary Hemangiomatosis (PCH): a rare lung disease affecting <1 per million. Abnormal capillary growth causes pulmonary hypertension. Lung transplant is the only cure. Learn more: https://dub.sh/8zH5efU You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Nail-Patella Syndrome (NPS) is a rare genetic disorder affecting nails, kneecaps, elbows, kidneys, and eyes. Caused by LMX1B mutations, it affects ~1 in 50,000 people. Learn more: https://dub.sh/N-PS You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Anetoderma is a rare skin disorder causing focal loss of elastic fibers, leaving permanent soft depressions or sac-like pouches in the skin. No cure exists. Learn more: https://dub.sh/gkr8IOT You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Porokeratosis: A rare skin disorder causing scaly patches with a distinctive raised border. Linked to cholesterol pathway gene mutations, it can transform into skin cancer in ~10% of cases. Learn more: https://dub.sh/4ELYOzn You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Rhinosporidiosis is a rare chronic infection caused by an aquatic parasite, producing strawberry-like nasal polyps. Surgery is the main treatment, but recurrence is common. Learn more: https://dub.sh/rhino You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Medullary Cystic Kidney Disease (MCKD): A rare inherited disorder causing progressive kidney scarring and failure. Often missed due to normal-looking urine. No cure; transplant is the best treatment Learn more rarekidney.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

NF2-Related Schwannomatosis: a rare genetic disorder causing benign tumors on both auditory nerves, leading to hearing loss, balance problems & deafness. Also affects brain & spine. Learn more: ctf.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Myalgic Encephalomyelitis/CFS: a serious neurological disease causing profound fatigue worsened by exertion (PEM), brain fog & pain. No FDA-approved treatments. Affects ~1–2.5M Americans. Learn more: solvecfs.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Cornelia de Lange Syndrome (CdLS): a rare genetic disorder causing distinctive facial features, growth delays, limb differences & intellectual disability. No two cases are alike. Learn more: cdlsusa.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Mucopolysaccharidosis (MPS): rare genetic disorders where missing enzymes cause toxic sugar buildup in cells. Progressive — affecting bones, organs, heart & brain. 7 types, few treatments. Learn more: mpssociety.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

IgA Nephropathy (IgAN): a rare kidney disease where abnormal IgA antibodies damage the kidney's filters. Silently progressive — up to 40% reach kidney failure. 4 FDA-approved therapies now available. Learn more: igan.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Short Bowel Syndrome: a rare disorder where too little small intestine remains to absorb nutrients. Causes chronic diarrhea, malnutrition & IV nutrition dependence. Learn more: https://shortbowelfoundation.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Systemic Mastocytosis: a rare blood disorder where abnormal mast cells accumulate in organs, triggering severe allergic reactions, bone pain & GI symptoms. Learn more: tmsforacure.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Wilms Tumor (Nephroblastoma) is the most common kidney cancer in children, typically striking kids under 5. With modern treatment, over 90% of children with the most common form are cured. Learn more: wilmsfoundation.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Pearson Syndrome: An ultra-rare mitochondrial disorder striking infants with severe bone marrow failure, pancreatic dysfunction, and organ damage. Most children do not survive past age four. Learn more https://dub.sh/pearson You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Menkes Disease: A rare fatal disorder in infant boys where a faulty gene prevents copper from reaching the brain. It causes seizures, neurological decline, & the disease's hallmark kinky hair Learn more https://dub.sh/menkes You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Infantile Neuronal Ceroid Lipofuscinosis (CLN1): A fatal brain disease striking infants at 6-18 months. Caused by a missing enzyme, it leads to seizures, blindness, & rapid neurological decline learn more bdsrafoundation.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Hirschsprung Disease is a rare birth defect where missing nerve cells in the colon cause bowel obstruction. Affecting 1 in 5,000 newborns, it requires surgery to remove the affected segment. Learn more: reachhd.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Diffuse Midline Glioma (DMG/DIPG) is a rare, aggressive brainstem tumor striking children ages 5–9. Largely inoperable; the leading cause of pediatric brain tumor death, with median survival < 1 year Learn more: dipg.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Biliary Atresia is a rare infant liver disease where bile ducts become blocked, causing liver damage. The Kasai surgery can restore bile flow, but most children will eventually need a liver transplant Learn more: bareinc.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Darier Disease (DD): a rare genetic skin disorder causing greasy, warty lesions in seborrheic areas, nail changes & mucosal involvement. Lifelong & relapsing. Learn more: https://dub.sh/Darier You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Birdshot Chorioretinopathy: a rare autoimmune eye disease causing progressive retinal inflammation & vision loss. Strongly linked to HLA-A29. No cure; long-term immunosuppression is essential. Learn more: busna.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Paragonimiasis: a rare lung fluke infection from eating raw freshwater crabs or crayfish. Often mistaken for TB. Causes chronic cough & hemoptysis. Highly treatable with praziquantel. Learn more: https://dub.sh/w9Ewrjq You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Medullary Sponge Kidney (MSK): a rare congenital disorder where cysts form in kidney tubules, causing kidney stones & UTIs. Most patients retain normal kidney function. Learn more: https://dub.sh/MSK1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Loin Pain Hematuria Syndrome (LPHS): a rare kidney disorder causing severe, chronic flank pain & blood in urine with no identifiable cause. No cure; treatment focuses on pain relief. Learn more: https://dub.sh/LPHS You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Pleuropulmonary Blastoma: a rare, aggressive childhood lung cancer linked to DICER1 gene mutations. Affects children under 6. Treatment combines surgery, chemo & radiation. Learn more: ppbregistry.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness