CT Rare Advocate

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

#RareDiseaseDay is observed every Feb 28 (Feb 29 in leap year - the rarest day).

300 million people worldwide live with a rare disease. Over 10,000 conditions. Most have no cure.

Today the world stops to say: we see you. 🦓

You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness

If someone you know is living with a rare disease share this thread to spread the word. 🦓

Follow @rarectadvocate.com for the Rare Disease of the Day.

Together we can change what "rare" means for 300 million people.

You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness

Today's #RareDiseaseOfTheDay card is a special edition dedicated to #RareDiseaseDay itself! 🦓

With 10,000+ rare diseases - Describing 1 per day would take 27+ years to cover them all

See all 365 cards at rarectadvocate.com

You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness

#RareDiseaseDay is observed every Feb 28 (Feb 29 in leap year - the rarest day).

300 million people worldwide live with a rare disease. Over 10,000 conditions. Most have no cure.

Today the world stops to say: we see you. 🦓

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