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CT Rare Advocate

@rarectadvocate.com

Rare Disease advocate in CT. Raising Awareness and advocating for Rare Diseases patients and caregivers. 🔗 https://rarectadvocate.com - Archive and Rare Disease Resources You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

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CT Rare Advocate @rarectadvocate.com · 9h ago

Swyer-James-MacLeod Syndrome is a rare lung condition from childhood bronchiolitis obliterans, leaving one lung smaller, poorly ventilated, and hyperlucent on imaging. Learn more: https://dub.sh/swyer You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Swyer-James Syndrome, a rare acquired lung condition that develops after severe childhood bronchiolitis obliterans, often from adenovirus infection. The card notes it leaves one lung smaller and poorly ventilated, appearing abnormally dark on imaging, with symptoms ranging from none to chronic cough and recurrent infections. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · yesterday

Bardet-Biedl Syndrome is a rare ciliopathy causing retinal degeneration, early-onset obesity, extra fingers or toes, and kidney abnormalities from disrupted primary cilia function. Learn more: https://www.bardetbiedl.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Bardet-Biedl Syndrome, a rare genetic ciliopathy caused by mutations in one of 26 known genes. The card notes it causes retinal degeneration, early-onset obesity, extra fingers or toes, and kidney abnormalities, with setmelanotide as the first FDA-approved treatment for BBS-related obesity. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 2d ago

Best Disease (Vitelliform Macular Dystrophy) is an inherited retinal disorder from BEST1 gene mutations, causing a yolk-like macular lesion and gradual central vision loss. Learn more: https://dub.sh/Bestdis You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Best Disease, also called Best Vitelliform Macular Dystrophy, an inherited retinal disorder caused by BEST1 gene mutations. The card notes it produces a distinctive yolk-like macular lesion and gradually disrupts central vision starting in childhood, while side vision stays normal. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 3d ago

Lassa Fever is a viral hemorrhagic fever endemic to West Africa, spread by rodents and person-to-person contact. Roughly a third of survivors develop permanent hearing loss. Learn more: https://dub.sh/Lassa You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Lassa Fever, a viral hemorrhagic fever endemic to West Africa spread by contact with infected rodents or bodily fluids. The card notes it causes an estimated 100,000 to 300,000 infections yearly, and that roughly one-third of survivors develop permanent hearing loss. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 4d ago

Moebius Syndrome is a rare congenital disorder causing facial paralysis and inability to move the eyes side to side, from underdeveloped cranial nerves. Affects up to 1 in 50,000 newborns. Learn more: moebiussyndrome.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Moebius Syndrome, a rare congenital disorder caused by underdeveloped facial and abducens cranial nerves. The card notes it causes facial paralysis and inability to move the eyes side to side from birth, affecting an estimated 1 in 50,000 to 500,000 newborns. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 5d ago

Wolfram Syndrome (DIDMOAD) is an ultra-rare genetic disorder causing childhood diabetes, progressive optic atrophy, hearing loss, and neurodegeneration. Affects roughly 1 in 700,000 people. Learn more: thesnowfoundation.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Wolfram Syndrome, an ultra-rare genetic disorder also called DIDMOAD, caused by mutations in the WFS1 gene. The card notes it affects about 1 in 500,000 to 770,000 people and causes childhood-onset diabetes, progressive optic atrophy, and hearing loss, with no cure currently available. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 6d ago

Alpha Thalassemia is an inherited blood disorder caused by deletions or mutations in the HBA1 and HBA2 genes, which reduce production of alpha-globin, a key building block of hemoglobin. Learn more: https://thalassemia.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Alpha Thalassemia, an inherited blood disorder caused by mutations in the HBA1 and HBA2 genes that reduce hemoglobin production. The card notes it occurs in about 1 in 10,000 births and ranges in severity from silent carrier status to hemoglobin H disease. Key symptoms include fatigue, pallor, and an enlarged spleen. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · last wk.

Q Fever is a zoonotic infection caused by the bacterium Coxiella burnetii, spread to humans mainly through inhaling contaminated dust from infected livestock such as cattle, sheep, and goats Learn more: https://dub.sh/Qfever You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

CT Rare Advocate @rarectadvocate.com · last wk.

Idiopathic Pulmonary Fibrosis is a chronic, progressive lung disease in which tissue deep in the lungs becomes thickened, stiff, and scarred for reasons that remain unknown. Learn more: https://dub.sh/ipf1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Idiopathic Pulmonary Fibrosis, a chronic lung disease in which lung tissue becomes thickened and scarred for unknown reasons. The card notes it affects an estimated 2 to 29 people per 100,000 and most often develops after age 60. Key symptoms include shortness of breath, dry cough, and finger clubbing. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · last wk.

Nontuberculous Mycobacterial (NTM) Lung Disease is a chronic infection caused by environmental mycobacteria other than the species that cause tuberculosis. Learn more: https://ntminfo.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Nontuberculous Mycobacterial (NTM) Lung Disease, a chronic lung infection caused by environmental mycobacteria found in soil and water. The card notes it affects more than 86,000 people in the U.S. and most often occurs in people with pre-existing lung damage. Key symptoms include chronic cough, fatigue, and shortness of breath. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · last wk.

Chronic Granulomatous Disease is a rare inherited immunodeficiency caused by mutations in genes encoding NADPH oxidase, an enzyme phagocytes need to kill certain bacteria and fungi. Learn more: https://cgdaa.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Chronic Granulomatous Disease, a rare inherited immune disorder that leaves phagocytes unable to kill certain bacteria and fungi. The card notes it affects roughly 1 in 200,000 to 250,000 people and most often results from mutations in the CYBB gene. Key symptoms include recurrent infections, pneumonia, and skin abscesses. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 2w ago

Alpha-1 Antitrypsin Deficiency is an inherited disorder affecting 1 in 2,500 people of European ancestry, causing early-onset emphysema and liver disease. Learn more: https://alpha1.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Alpha-1 Antitrypsin Deficiency, an inherited genetic disorder that causes early-onset emphysema and liver disease. The card notes it affects about 1 in 2,500 people of European ancestry and is caused by mutations in the SERPINA1 gene. Key symptoms include shortness of breath, chronic cough, and jaundice. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 2w ago

CTNNB1 Syndrome is a rare genetic disorder causing intellectual disability, developmental delay, and vision problems, often mistaken for cerebral palsy. Learn more: https://curectnnb1.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for CTNNB1 syndrome, a rare genetic neurodevelopmental disorder caused by CTNNB1 gene variants affecting the protein beta-catenin. The card notes it causes intellectual disability, developmental delay, and vision problems, and is often mistaken for cerebral palsy. Footer reads: "You may be rare, but you are not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 2w ago

Thymidine Kinase 2 Deficiency (TK2d) is a rare mitochondrial disorder causing progressive muscle weakness and respiratory failure in children and adults. Learn more: https://dub.sh/TK2d You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Thymidine Kinase 2 Deficiency (TK2d), a rare mitochondrial DNA depletion disorder caused by TK2 gene variants. The card notes it causes progressive muscle weakness and respiratory failure, and that the FDA approved the first treatment, Kygevvi, in 2025. Footer reads: "You may be rare, but you are not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 2w ago

GNAO1-Related Disorder is a rare genetic condition causing drug-resistant epilepsy, severe involuntary movements, and developmental delay in children and adults. Learn more: https://gnao1.org/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for GNAO1-related disorder, a rare genetic neurodevelopmental condition caused by GNAO1 gene variants. The card notes it causes epilepsy, severe hyperkinetic movement disorder, and developmental delay, with about 400 cases known worldwide. Footer reads: "You may be rare, but you are not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 2w ago

Chromosome 8p Duplication/Deletion Syndrome is a rare genetic condition from extra or missing material on chromosome 8, affecting brain, heart, and physical development. Learn more: project8p.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Chromosome 8p Duplication/Deletion Syndrome, a rare genetic disorder involving extra or missing material on chromosome 8. The card explains it causes developmental delay, congenital heart defects, and neurological differences from infancy. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 2w ago

Periventricular Nodular Heterotopia (PVNH) is a rare brain malformation where nerve cells fail to migrate properly before birth, often causing focal epilepsy that begins later in life. Learn more: https://dub.sh/PVNH You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Periventricular Nodular Heterotopia, or PVNH, a rare brain malformation caused mainly by FLNA gene mutations. The card explains it causes clusters of misplaced brain cells, frequent focal seizures, and sometimes heart abnormalities. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 2w ago

Klippel-Feil Syndrome (KFS) is a rare condition where two or more neck bones fuse together before birth, often limiting neck motion and sometimes affecting the spinal cord. Learn more: https://kfsfreedom.wordpress.com/ You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Klippel-Feil Syndrome (KFS), a rare congenital disorder where neck vertebrae fuse together before birth. The card explains it can cause a short neck, limited neck motion, scoliosis, and related conditions like hearing loss or kidney anomalies. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 3w ago

Skraban-Deardorff Syndrome is a rare genetic disorder caused by WDR26 gene variants, leading to intellectual disability, seizures, low muscle tone, and distinctive facial features. Learn more: skdeas.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Skraban-Deardorff syndrome, a rare genetic neurodevelopmental disorder caused by variants in the WDR26 gene. The card notes it causes intellectual disability, seizures, and distinctive facial features, with fewer than 1,000 known cases in the U.S. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"

CT Rare Advocate @rarectadvocate.com · 3w ago

Mevalonate Kinase Deficiency/Hyper-IgD Syndrome is a rare inherited disorder causing recurrent fever attacks every few weeks, driven by MVK gene mutations that disrupt cholesterol production. Learn more: https://dub.sh/HIDS You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Mevalonate Kinase Deficiency, also called Hyper-IgD Syndrome, a rare inherited autoinflammatory disorder caused by MVK gene mutations. The card explains it causes recurrent fever attacks with abdominal pain, rash, and joint pain, usually starting in infancy. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 3w ago

SAPHO syndrome links chronic bone and joint inflammation, especially in the chest wall, with distinctive skin disease like pustules on the palms and soles or severe acne. Learn more: https://dub.sh/SAPHO You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for SAPHO syndrome, a rare autoinflammatory disorder combining bone and joint inflammation with skin disease. The card explains SAPHO most often affects the chest wall and causes palmoplantar pustulosis or acne, alongside chronic pain and fatigue. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 3w ago

Cryopyrin-Associated Periodic Syndromes (CAPS) is a family of three rare autoinflammatory disorders, ranging from mild to severe, caused by mutations in the NLRP3 gene. Learn more: https://dub.sh/CAPS1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for CAPS, Cryopyrin-Associated Periodic Syndromes, a rare autoinflammatory disease spectrum caused by NLRP3 gene mutations. The card explains CAPS spans three forms of increasing severity, FCAS, Muckle-Wells syndrome, and NOMID, with symptoms like fever, rash, hearing loss, and joint damage. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 3w ago

TRAPS is a rare genetic autoinflammatory disorder caused by mutations in the TNFRSF1A gene, which encodes a receptor for tumor necrosis factor. Learn more: https://www.nomidalliance.org/traps.php You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for TRAPS, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, a rare genetic autoinflammatory disorder. The card explains that TRAPS is caused by TNFRSF1A gene mutations and causes recurring fevers, muscle pain, and skin rashes lasting days to weeks, with a risk of amyloidosis if untreated. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 3w ago

Nager Syndrome is a rare craniofacial and limb disorder from SF3B4 gene mutations, causing underdeveloped cheekbones, jaw, ears, and thumb-side hand and forearm malformations. Learn more: https://dub.sh/Nager You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Nager Syndrome, a rare craniofacial and limb disorder caused by SF3B4 gene mutations in about half of cases. The card notes it causes underdeveloped cheekbones, jaw, and ears, plus thumb and forearm malformations. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 3w ago

Multiple System Atrophy (MSA) is a rare, fast-progressing brain disorder combining autonomic failure with parkinsonian or cerebellar movement problems, caused by misfolded alpha-synuclein protein. Learn more: missionmsa.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Multiple System Atrophy, a rare, rapidly progressive neurodegenerative disorder caused by misfolded alpha-synuclein protein. The card notes it combines autonomic failure with parkinsonian or cerebellar movement problems and has an average survival of 8 years. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 4w ago

POEMS Syndrome is a rare plasma cell disorder causing polyneuropathy, organ enlargement, endocrine problems, and skin changes, driven by excess VEGF protein. Learn more: https://dub.sh/POEMS You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for POEMS Syndrome, a rare plasma cell disorder named for its core features: polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes. The card notes it affects about 0.3 people per 100,000, most often men in their 50s and 60s. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 4w ago

CANVAS Syndrome is a rare adult-onset disorder from an RFC1 gene expansion, causing progressive imbalance via cerebellar, nerve, and inner ear damage, often preceded by a chronic cough. Learn more: https://www.ataxia.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for CANVAS Syndrome, a rare adult-onset neurodegenerative disorder caused by an RFC1 gene repeat expansion. The card notes it causes progressive imbalance and is often preceded by a chronic dry cough years before diagnosis. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 4w ago

Job Syndrome, or Hyper-IgE Syndrome, is a rare STAT3-linked immunodeficiency causing recurrent skin and lung infections, chronic eczema, and elevated IgE levels from infancy. Learn more: https://dub.sh/HIES You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Job Syndrome, also called Hyper-IgE Syndrome, a rare primary immunodeficiency caused by STAT3 gene mutations. The card notes it causes recurrent skin and lung infections, chronic eczema, and elevated IgE levels. Footer reads: You may be rare, but you're not alone! rarectadvocate.com

CT Rare Advocate @rarectadvocate.com · 4w ago

Chediak-Higashi Syndrome (CHS) is a rare inherited immune disorder from LYST mutations, causing recurrent infections, albinism, & easy bleeding, often progressing to a fatal accelerated phase. Learn more: https://dub.sh/CHS1 You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

Info card for Chediak-Higashi Syndrome, a rare inherited immune disorder caused by LYST gene mutations. The card notes it causes partial albinism, frequent infections, and easy bruising, often progressing to a dangerous accelerated phase. Footer reads: You may be rare, but you're not alone! rarectadvocate.com