Juvenile Dermatomyositis (JDM) a rare autoimmune disease where the immune system attacks the blood vessels supplying the muscles and skin, causing progressive muscle weakness and a distinctive skin rash Learn more curejm.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Osteosarcoma is a rare and aggressive form of bone cancer that arises when bone-forming cells (osteoblasts) become malignant and produce abnormal, weakened bone tissue. Learn more: https://osinst.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Idiopathic Intracranial Hypertension (IIH) aka pseudotumor cerebri, is a condition in which cerebrospinal fluid builds up and pressure inside the skull rises without any identifiable cause Learn more: ihrfoundation.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Eales Disease is a rare inflammatory disorder of the retinal blood vessels, with inflammation of the peripheral retinal veins, blockage of blood flow, and abnormal growth of new blood vessels Learn more: https://dub.sh/Eales You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Mucoepidermoid Carcinoma (MEC) is the most common malignant tumor of the salivary glands, comprising three cell types: mucus-secreting, squamous, and intermediate cells. Learn more: https://dub.sh/luZ2TNS You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Birt-Hogg-Dubé Syndrome (BHD): A rare genetic disorder causing benign skin tumors, lung cysts, & kidney tumors. Caused by FLCN gene mutations. Autosomal dominant inheritance. Learn more: https://www.thebhdfoundation.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Synthase Deficiency: ultra-rare inherited disorder impairing ketone production, causing life-threatening metabolic crises during fasting or illness. Learn more: https://dub.sh/HMGCoA You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Multicentric Reticulohistiocytosis (MRH) - rare, multisystem non-Langerhans cell histiocytosis of unknown cause, characterized by papulonodular skin lesions & progressive, erosive polyarthritis Learn more https://dub.sh/MRHd You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Long QT Syndrome (LQTS) is a disorder of the heart's electrical system in which the ventricles take longer than normal to recharge between beats, creating a prolonged QT interval on an electrocardiogram. Learn more: sads.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Low Phospholipid-Associated Cholelithiasis (LPAC) Syndrome: Low bile phospholipids cause cholesterol to crystallize, forming stones in both the gallbladder and liver (intrahepatic lithiasis). Learn more: https://dub.sh/LPAC You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease where abnormal cells form destructive cysts in the lungs, lymphatic system, and kidneys, obstructing airways. Learn more https://dub.sh/lymph You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Myofibrillar Myopathies (MFM) are a group of rare inherited muscle disorders characterized by the breakdown and disorganization of the myofibrils leading to progressive muscle weakness. Learn more: https://dub.sh/mfms You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Membranous Nephropathy (MN) is a rare kidney disorder in which the immune system attacks the filtering membranes of the kidney (glomeruli), causing protein to leak into the urine. Learn more: https://dub.sh/recQeKZ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Takotsubo Cardiomyopathy is a temporary and usually reversible condition in which the left ventricle suddenly weakens and balloons out, mimicking the symptoms of a heart attack. Learn more: takotsubo.net You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Dense Deposit Disease (DDD) is a rare kidney disorder characterized by abnormal deposits of complement component C3 within the glomerular basement membrane. Learn more: https://dub.sh/DenseDep You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Choledochal Malformations are rare congenital anomalies characterized by cystic or fusiform dilatations of the biliary tract, affecting the intrahepatic and/or extrahepatic bile ducts. Learn more: childliverdisease.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Minimal Change Disease (MCD): A kidney disorder causing massive protein loss in urine. The most common cause of nephrotic syndrome in children, often responding well to corticosteroid treatment Learn more: nephcure.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

IRF2BPL-Related Disorder (NEDAMSS) is a rare genetic neurological condition causing children to progressively lose speech, movement, and motor skills, accompanied by seizures. Learn more: yellowforyiannis.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Ebstein's anomaly is a rare congenital heart defect in which the tricuspid valve is malformed and displaced downward into the right ventricle, causing the right ventricle to malfunction. Learn more: https://dub.sh/ebsteins You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Today I had the privilege of speaking about rare disease awareness and advocacy at the first annual UConn Rare Disease Day Symposium. It was a privilege to be invited to share my story and continue to spread awareness. You may be rare, but you're not alone! #RareDisease #RareDiseaseAwareness

Budd-Chiari Syndrome (BCS) is a rare vascular disorder caused by obstruction of the hepatic veins or the intrahepatic/suprahepatic inferior vena cava, leading to impaired blood outflow. Learn more: https://dub.sh/budd-chiari You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Nipah Virus infection is a rare, often fatal disease caused by the Nipah virus (NiV), it transmitted to humans from animals (primarily fruit bats), contaminated food, or human-to-human contact Learn more https://dub.sh/Nipah You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Naxos Disease is a rare autosomal recessive condition characterized by the triad of arrhythmogenic cardiomyopathy, woolly hair, and palmoplantar keratoderma. Learn more: https://dub.sh/Naxos You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Classical Galactosemia is an inherited metabolic disorder caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT) - required to metabolize galactose. Learn more: https://galactosemia.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Relapsing Polychondritis (RP) is a rare, chronic autoimmune disease characterized by recurrent episodes of inflammation and progressive destruction of cartilaginous tissues throughout the body. Learn more: polychondritis.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Susac Syndrome is a rare autoimmune disease where the immune system attacks tiny blood vessels in the brain, retina & inner ear, causing permanent damage. Learn more: https://dub.sh/susac You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Dandy-Walker Malformation is a rare congenital neurological condition that affects the development of the cerebellum, the part of the brain responsible for motor coordination and balance. Learn more: dandy-walker.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

365 days. 365 diseases. One year of showing up for the rare disease community. Today, #RareDiseaseDay, we drop a special card to mark the day! 🦓 A year ago today, this journey began. Thank you for being part of it. You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Kearns-Sayre Syndrome (KSS) is a rare mitochondrial disorder that affects multiple organs, particularly the eyes, heart, and nervous system, and typically begins before age 20. Learn more: umdf.org/kss/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Early-onset Lafora Body Disease is an extremely rare, inherited form of progressive myoclonic epilepsy marked by Lafora bodies and onset around 5 years of age. Learn more: chelseashope.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Ellis-van Creveld syndrome is a rare inherited skeletal dysplasia characterized by very short stature, short limbs, extra fingers or toes, and abnormalities of the nails and teeth. Learn more: dub.sh/Nw8PwQI You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Clouston syndrome (hidrotic ectodermal dysplasia) is a rare inherited ectodermal disorder characterized by abnormalities of the hair, nails, and skin, while teeth and sweating are typically normal. Learn more: nfed.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, progressive brain disease affecting white matter, due to CSF1R gene mutations. Learn more: sistershopefoundation.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Acute fatty liver of pregnancy (AFLP) is a rare, life-threatening liver disorder occurring in late pregnancy or early postpartum, marked by rapid fat buildup in liver cells and acute dysfunction. Learn more: dub.sh/AFLP You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Krabbe Disease (globoid cell leukodystrophy) is a rare inherited condition where GALC enzyme deficiency severely damages white matter in the central and peripheral nervous systems. Learn more: krabbeconnect.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Acropectorovertebral dysplasia (also called F syndrome) is a very rare inherited skeletal dysplasia characterized by abnormal development and fusion of bones in the hands, feet, chest, and spine. Learn more: nfed.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

4H Leukodystrophy (POLR3-related Leukodystrophy) is a rare inherited disorder affecting central nervous system white matter, with dental, endocrine, and neurologic symptoms. Learn more: yayafoundation4hl.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Acute Annular Outer Retinopathy (AAOR) is a rare retinal disorder within the AZOOR spectrum, leading to sudden visual field loss and photoreceptor damage around the optic nerve. Learn more: uveitis.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

ATP13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis (CLN12 disease) is a rare inherited neurodegenerative disorder due to ATP13A2 gene variants. Learn more: bdsrafoundation.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

AREDYLD syndrome is a rare genetic condition featuring lipoatrophic diabetes, limb and kidney anomalies, and issues with hair, teeth, nails, and other ectodermal structures. Learn more: dub.sh/aredyld You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Aase-Smith syndrome is a very rare genetic disorder characterized by hydrocephalus from Dandy-Walker malformation, cleft palate, and severe joint contractures. learn more: dub.sh/aase-smith You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Activated PI3K-delta syndrome (APDS) is a rare genetic disorder affecting immune function due to PIK3CD or PIK3R1 mutations, leading to excessive PI3Kδ activity. Learn more: dub.sh/APDS You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Action Myoclonus–Renal Failure (AMRF) syndrome is a rare, progressive form of myoclonus epilepsy that occurs together with primary kidney disease leading to renal failure. Learn more: dub.sh/AMRF You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Tyrosinemia is a group of rare inherited metabolic disorders in which the body cannot properly break down the amino acid tyrosine, leading to toxic buildup. Learn more: dub.sh/ujucNM3 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Imerslund-Gräsbeck Syndrome (IGS) is a rare inherited disorder in which the intestine cannot properly absorb vitamin B12, leading to vitamin B12 deficiency and megaloblastic anemia. Learn more: metabolicsupportuk.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Weill-Marchesani Syndrome (WMS) is a rare connective tissue disorder marked by short stature, joint stiffness, and unique eye issues. Learn more: dub.sh/ZMsThe6 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Vogt-Koyanagi-Harada (VKH) disease is a rare, presumed autoimmune, multisystem disorder that primarily causes bilateral inflammation inside the eyes and can involve the ears, skin, & nervous system Learn more autoimmune.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

X-Linked Lymphoproliferative (XLP) syndrome is an extremely rare inherited primary immunodeficiency in which the immune system reacts abnormally, especially to Epstein–Barr virus infection Learn more www.xlpresearchtrust.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Kallmann Syndrome is a rare genetic disorder characterized by absent or delayed puberty together with a reduced or absent sense of smell due to congenital gonadotropin‑releasing hormone deficiency. Learn more: dub.sh/KFt4Id2 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Oculocutaneous Albinism (OCA) is a group of rare inherited disorders characterized by reduced or absent melanin pigment in the skin, hair, and eyes, leading to lifelong skin and vision differences. Learn more: albinism.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness