CT Rare Advocate

SDHA-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL5) raises the risk of neuroendocrine tumors of the head, neck, and adrenal glands, as well as stomach tumors. Learn more: https://pheopara.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Adult Dermatomyositis is a rare autoimmune disease causing distinctive skin rashes and muscle weakness. In 2026, the FDA approved brepocitinib, the first oral targeted therapy for DM. Learn more: https://www.myositis.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

New Daily Persistent Headache (NDPH) is a rare disorder in which a headache begins suddenly on one remembered day and never stops, often lasting for months or years. Learn more: https://dub.sh/NDPH You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Epilepsy with Myoclonic-Atonic Seizures (Doose syndrome) is a rare childhood epilepsy that causes sudden jerks followed by loss of muscle tone, leading to head drops and falls. Learn more: https://doosesyndrome.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Primrose syndrome is a rare genetic disorder caused by changes in the ZBTB20 gene, leading to intellectual disability, hearing loss, calcified ears, and progressive muscle wasting. Learn more: https://beyondprimrose.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Leukoencephalopathy with Calcifications and Cysts (LCC), or Labrune syndrome, is a rare genetic brain disorder that damages small vessels, causing calcium deposits and cysts. Learn more: thelccfoundation.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

VLCAD deficiency is an inherited disorder that keeps the body from turning long-chain fats into energy, putting the heart, liver, and muscles at risk during fasting, illness, or exercise. Learn more: FODSupport.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Mucormycosis is a rare, aggressive fungal infection that invades blood vessels and destroys tissue, often starting in the sinuses or lungs of people with weakened immune systems or diabetes. Learn more: https://gaffi.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Immune Thrombocytopenia (ITP) is a rare autoimmune disorder in which the immune system destroys platelets, causing easy bruising, tiny red skin spots, and bleeding that can be serious. Learn more: https://pdsa.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Generalized Pustular Psoriasis (GPP) is a rare, potentially life-threatening skin disease that causes sudden flares of widespread painful pustules, often with fever and body-wide illness. Learn more: https://dub.sh/GPP1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Live at RareNE Annual Conference. Learn more: www.rarenewengland.org You may be rare, but you're not alone! #RareDisease #RareDiseaseAwareness

Short QT Syndrome (SQTS) is a rare inherited heart rhythm disorder in which the heart recharges too fast between beats, raising the risk of sudden cardiac arrest in young people. Learn more: https://www.fiacardiac.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Recurrent Respiratory Papillomatosis (RRP) is a rare HPV-driven disease that causes growths in the airway to keep returning, often requiring dozens of surgeries over a lifetime. Learn more: https://rrpf.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Babesiosis is a malaria-like tick-borne infection in which Babesia parasites destroy red blood cells. Connecticut is a hotspot, and it can be severe for people without a spleen. Learn more: https://dub.sh/GLA1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Bethlem Myopathy 1A is a rare inherited muscle disease caused by COL6A1 gene changes, leading to slowly progressive weakness, tight joints, and skin changes such as keloid scars. Learn more: curecmd.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Schimke Immuno-Osseous Dysplasia (SIOD) is a rare inherited disorder causing short stature, progressive kidney failure, a weakened immune system, & strokes, due to changes in the SMARCAL1 gene Learn more: https://dub.sh/SIOD You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Perlman Syndrome is a very rare inherited overgrowth disorder causing large birth size and enlarged kidneys, with high newborn mortality and a strong risk of Wilms tumor, a kidney cancer. Learn more: https://dub.sh/Perlman You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Lethal Multiple Pterygium Syndrome (LMPS) is a rare inherited condition where babies cannot move in the womb, causing skin webs across joints, severe contractures, and underdeveloped organs Learn more https://amcsupport.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Nemaline Myopathy 2 (NEM2) is a rare inherited muscle disease caused by NEB gene changes. Rod-like structures form in muscle cells, weakening the face, neck, limbs, and breathing muscles. Learn more: buildingstrength.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Hereditary Spastic Paraplegia (HSP) is a group of rare inherited disorders where long nerve fibers to the legs slowly degenerate, causing progressive leg stiffness, weakness, & trouble walking. Learn more: sp-foundation.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

GM3 synthase deficiency is a rare inherited disorder that stops the body from making a fat the brain needs, causing severe infant epilepsy, hearing and vision loss, and developmental delays Learn more https://www.cdgcare.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Hyperprolinemia Type II is a rare inherited disorder where the body can't break down proline. A toxic byproduct inactivates vitamin B6, which can trigger seizures in childhood. Learn more: https://dub.sh/HP-II You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Carnitine Palmitoyltransferase II (CPT II) Deficiency is a disorder that stops the body from burning long-chain fats for energy, causing muscle breakdown during exercise or illness. Learn more: https://www.fodsupport.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) is an inherited neurodevelopmental disorder caused by changes in the SLC1A4 gene. Learn more: https://dub.sh/SPATCCM You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Sorsby Fundus Dystrophy is a rare inherited retinal disease caused by TIMP3 mutations. It resembles macular degeneration but typically starts decades earlier, in a person's 30s to 50s. Learn more: https://dub.sh/sorsby You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Pyoderma Gangrenosum is a rare skin disorder causing painful ulcers that are not caused by infection. About half of cases occur alongside inflammatory bowel disease or arthritis. Learn more: https://www.allthingspg.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Anti-GBM Disease (Goodpasture Syndrome) is a rare autoimmune disease where antibodies attack the kidneys and lungs, causing rapid kidney damage and lung bleeding within days to weeks. Learn more: https://dub.sh/anti-gbm You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Peutz-Jeghers Syndrome is a rare inherited condition causing gastrointestinal polyps, distinctive dark spots around the mouth, and a lifetime cancer risk of roughly 83 percent by age 70. Learn more: https://dub.sh/peutz You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Idiopathic Subglottic Stenosis (iSGS) is a rare airway disease in which unexplained scarring narrows the windpipe below the vocal cords, mostly in women. It is often mistaken for asthma. Learn more: https://dub.sh/SGS1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Balamuthia Infection is a rare, often fatal brain infection caused by a free-living ameba in soil, dust, and water. Early signs can include slow-healing skin wounds, fever, and headache. Learn more: https://dub.sh/BALA You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

I am excited to be an Exhibitor at Rare New England's 2026 Annual Conference, Advancing Rate Together! 💙 Turning Rare Disease Experience Into Advocacy Learn more: https://www.rarenewengland.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Schnitzler Syndrome is a rare adult-onset autoinflammatory disease causing a chronic non-itchy hive-like rash, recurring fevers, and bone pain. IL-1 blockers can bring rapid relief. Learn more: https://dub.sh/AIART You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Congenital Pulmonary Airway Malformation (CPAM): a rare birth defect where part of a lung forms as abnormal cystic tissue. Often found on prenatal ultrasound; surgery can treat it. Learn more: clmsociety.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Ataxia-Telangiectasia (A-T): a rare inherited disorder caused by ATM gene changes that affects the brain and immune system. Symptoms often start when toddlers learn to walk. No cure yet. Learn more: atcp.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Retinoblastoma: a rare childhood eye cancer that starts in the retina, the light-sensing tissue at the back of the eye. Caused by changes in the RB1 gene and is highly curable when found early Learn more https://dub.sh/eyec You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Duane Retraction Syndrome: a rare congenital eye movement disorder from abnormal nerve wiring. The eye can pull back into its socket when looking inward. Glasses, prisms, or surgery help. Learn more: https://dub.sh/aapos You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Hypoplastic Left Heart Syndrome (HLHS): a rare congenital heart defect where the left side of the heart is underdeveloped. Often found on prenatal ultrasound; treated with staged surgeries. Learn more: littlehearts.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Chronic Lymphocytic Leukemia (CLL): a slow-growing blood cancer often found on routine bloodwork. You may be rare, but you're not alone! rarectadvocate.com Learn more: cllsociety.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Zellweger Syndrome is the most severe peroxisomal biogenesis disorder, caused by PEX gene mutations that leave infants without functioning peroxisomes from birth. Learn more: https://thegfpd.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Glycogen Storage Disease Type IV (Andersen Disease) is a rare metabolic disorder causing glycogen buildup in the liver, muscle, and heart, often leading to cirrhosis in infancy. Learn more: https://agsdus.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Fanconi Anemia is a rare inherited DNA-repair disorder causing progressive bone marrow failure and a sharply increased risk of leukemia and solid tumors, from mutations in at least 22 genes. Learn more: https://fanconi.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Dowling-Degos Disease is a rare genetic skin disorder causing progressive dark, net-like patches in body folds, driven by mutations that disrupt normal melanosome trafficking. Learn more: https://dub.sh/UpsAjsU You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Andersen-Tawil Syndrome (ATS) combines episodic muscle paralysis, dangerous heart arrhythmias, and distinctive facial features, caused mainly by mutations in the KCNJ2 potassium channel gene. Learn more: https://dub.sh/ATS1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Crimean-Congo Hemorrhagic Fever (CCHF) is a tick-borne viral illness that can progress from flu-like symptoms to severe bleeding, shock, & organ failure, with outbreak fatality rates up to 30% Learn more: https://dub.sh/CCHF You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Idiopathic Pulmonary Hemosiderosis (IPH) causes recurrent, unexplained bleeding in the lungs, mostly in kids under 10, leading to iron-deficiency anemia and possible lung scarring. Learn more: https://dub.sh/IPH1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Caroli Disease is a rare congenital disorder where bile ducts inside the liver become abnormally widened, leading to recurrent infections and stone formation. Learn more: https://www.malacards.org/card/caroli_disease You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Acrodermatitis Enteropathica is a rare inherited disorder that blocks zinc absorption, causing a distinctive skin rash, chronic diarrhea, and hair loss in infants. Learn more: https://dub.sh/acr-ent You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

DIPNECH is a rare lung condition where hormone-releasing cells overgrow in the small airways, causing chronic cough and wheezing often mistaken for asthma. Learn more: https://dub.sh/dipnech You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Membranoproliferative Glomerulonephritis (MPGN) is a rare kidney disease where immune complexes or complement dysregulation damage the kidney's filtering units, can lead to kidney failure. Learn more: https://dub.sh/MPGN You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Chagas Disease is a parasitic infection spread by kissing bugs that can silently damage the heart and digestive tract over decades if left untreated. Considered rare in US/Europe, not worldwide. Learn more: chagasfound.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness