6-Year-Old and 10-Year-Old Sisters Lost the Ability to Move and Talk from Rare Genetic Disorder — Now Their Parents Are Spreading Awareness About It Two Louisiana parents, Charles and Curtshandra Duplechain, are helping raise awareness for INAD, a rare genetic condition that their two daughters were diagnosed with. The book, 'The Super Sisters and...

A family is raising awareness for Infantile Neuroaxonal Dystrophy (INAD)—a rare condition affecting their two daughters—through a children’s book inspired by their journey. 💛

Read more: people.com/parents-rais...

#RareDisease #DisabilityAwareness #ChronicIllness

Your health journey is a marathon, not a sprint: pace yourself kindly. 🏃‍♀️ #RareDisease

Brazilian influencer Rita Ephrem passes at 31 after a rare disease battle. Her brave journey inspires many. Rest in peace, Rita.

#RitaEphrem #RareDisease #InfluencerLoss #viral

🔗 Tap to see more – www.hypefresh.com/rita-ephrem-...

Parry-Romberg Syndrome: A rare disorder where skin, fat & bone on one side of the face slowly waste away. Onset in childhood, cause unknown, and the tissue loss is permanent.

Learn more: parryromberg.org

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

Torticollis - keloids - cryptorchidism - renal dysplasia: #Radiology findings https://gamuts.net/x/34750 #RareDisease #FOAMrad #Gamuts

Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

A Quarterly Reflection: 12 Important Life Lessons I’ve Learned. Learn more. a chronic voice .com

"Besides it would be hypocritical if I am trying to raise #awareness for #RareDisease so that people would treat us with more respect and #understanding, when I go out there and treat them in the exact manner which I despise.": buff.ly/OJ79na1

#humanity #ChronicIllness #BeKind #disabilities

Read about Finkel type SMA and connect with those who understand: https://bit.ly/4mGf9Ef

#SMA #SpinalMuscularAtrophy #SMANewsToday #Bionews #RareDisease

"Wilson disease is a rare disease characterized by excess copper accumulation in different parts of the body, esp in the liver, brain, and eyes. The disease is caused by a mutation on the ATP7B gene, which codes for a protein involved in copper transport."
#raredisease #chronicillness #wilsons

Risk for Severe Immune Reactions High With Checkpoint Inhibitors in MG With Thymoma In MG patients with thymoma who received ICIs, severe immune reactions were common, with germinal centers potentially indicating higher risk.

Individuals with #Thymoma who have preexisting myasthenia gravis (#MG) are more likely to experience severe immune reactions after immune checkpoint inhibitor (ICI) therapy. Study in Frontiers in Immunology.

Learn more: https://bit.ly/4cthhvZ

#RareDisease #MyastheniaGravis

Talk with others living it: https://bit.ly/4oWQoVB

#MyastheniaGravis #MyastheniaGravisNews #Bionews #MGWarrior #ChronicIllness #RareDisease #NeuromuscularDisease

Wilson Disease Is a Single-Gene Disorder, Study Confirms A recently published study supports the notion that Wilson disease is a single-gene disorder.

A new study published in @jhep-reports.bsky.social supports the notion that #WilsonDisease is a single-gene disorder.

Learn more: https://bit.ly/4bPBCMP

#RareDisease #GeneDisorder #MedSky

Thanks to the LAM community, a UW study found stress urinary incontinence is common in women with LAM, and most aren’t getting help. Read more: www.thelamfoundation.org/new-research-shows-urine... #LAM #RareDisease #CureLAM

FDA Gives Clearance to In Vivo Gene-Editing Therapy for AATD The FDA has approved the Investigational New Drug application for YOLT-202, an in vivo gene-editing therapy for AATD.

The @fda.gov has approved the Investigational New Drug (#IND) application for YOLT-202, an in vivo gene-editing therapy for alpha-1 antitrypsin deficiency (#AATD), according to a recent press release.

Read more: https://bit.ly/4draiFV

#RareDisease #YOLT202 #GeneEditingTherapy #Alpha1

** youre too young to be [enter symptom] ** Picture of a little boy who looks "crazy" is holding a knife

Tell us about it 🔪🙈
What are the different "You're too young" comments you have heard?

linktr.ee/thezebraalli...
#chronicillness #raredisease #invisibleillness #disability #dynamicdisability #mentalhealth #healthmeme #EDS #HSD #meme #memes #ehlersdanlossyndrome

Using our role as ‘professional patients’ to learn and pay it forward Columnist Kerry Wong considers herself a "professional patient," which means she has much to offer others this Sarcoidosis Awareness Month.

Knowledge is power. That’s especially true when it comes to chronic illness, especially w/ a rare disease like #sarcoidosis, as I share in this week’s Sarcoidosis News column.
🦋
sarcoidosisnews.com/columns/usin...
#SarcoidosisAwarenessMonth #PatientEducation
#ChronicIllness #RareDisease #SpoonieSky

#HAE #HereditaryAngioedema #HAEawareness #RareDisease #RareDiseaseAwareness #ChronicIllness #ChronicIllnessAwareness #InvisibleIllness #PatientVoice #HealthAdvocacy #BioNews #AngioedemaNews

Fatal Familial Insomnia (FFI): A rare prion disease that destroys the brain's ability to sleep. Progressive, untreatable insomnia leads to hallucinations, dementia & death within months.

Learn more: https://dub.sh/aXYVQsE

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

Aortic arch anomaly - peculiar facies - intellectual deficit https://gamuts.net/x/34087 #RareDisease #MedEd #FOAMrad

Thank you Novartis for sponsoring Education Day!

Join us April 17–18 in Cary, NC for an inspiring time of learning, connection, and hope for the Huntington’s disease community. 💙

Register today: www.hdreach.org/conference/2...

#HDReach #ReachForHope #ReachingForHope #curehd #curejhd #raredisease

New finding from FranMartinezGr on Twitter/X! ift.tt/USLXp5C

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy #RareDisease #Genetics #morbidgene t.co/4LuCN7PX5O

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...

Study identifies a common hidden genetic cause of neurodevelopmental disorder in children Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by intellectual disability, global developmental delay, and frequent seizures. The st...

🔬 Hidden genetic variants in a tiny RNA gene are now linked to one of the most common recessive neurodevelopmental disorders in children. Could this discovery change diagnosis and counseling? www.news-medical.net/news/2026040... #Genetics #NeuroScience #RareDisease

Finding an MG-friendly stay: https://bit.ly/4s5SwMV

#RareDisease #Disability #Accommodation #MyastheniaGravisNews #Bionews

Turning Up the Volume on IgG4-RD Awareness and Diagnosis For a disease as rare and complex as IgG4-RD, raising awareness and addressing critical gaps in care requires more than individual efforts—it demands collaboration.

For nearly a year, Andy and his wife Kat searched for answers on his journey to an eventual IgG4-related disease (IgG4-RD) diagnosis.

Learn more about Andy and Kat’s journey: zurl.co/yHUo8

#IgG4RD #RareDisease

Take part in the thread: https://bit.ly/4p46FIx

#MyastheniaGravis #MyastheniaGravisNews #Bionews #MGWarrior #ChronicIllness #RareDisease

Happy Thursday! April is Adrenal Disease Awareness Month! Please be aware I'm not a doctor and before making changes to your therapy or for diagnosis, consult your doctor. So for those who may not be... TikTok video by Cindy's Corner Tavern & Tea

Hey everyone! April is Adrenal Disease Awareness Month! Check out my story of living with this illness here: www.tiktok.com/t/ZTk6oHL42/

#raredisease #chronicillness #adrenalinsufficiency #tiktok #awareness

Image from @inmyhead_sharon (not sure which platform) about people who are not chronically ill, think folks with Chronic Illnesses arent doing enough to "fix it".

What would you add to this image?
🩵🦓🩵

Chronic Illness Resource Orgs:
Chronic Illness Coalition
Partnership to Fight Chronic Disease
NACDD
Good Days

linktr.ee/thezebraalliance
#chronicillness #raredisease #EDS #ehlersdanlossyndrome #invisibleillness #disability #dynamicdisability #mentalhealth

Adjunctive Ambroxol May Help ERT Improve Neurological Symptoms in GD Type 3 Patients with type 3 Gaucher disease (GD) on long-term ERT showed meaningful improvement in neurological symptoms with daily ambroxol.

Patients with type 3 #GaucherDisease (GD) who added daily #Ambroxol to a long-term enzyme replacement therapy (#ERT) regimen showed meaningful improvements in neurological symptoms. Study in Life.

Learn more: https://bit.ly/4sbrC5u

#RareDisease #Neurology #MedSky

Understanding possible causes: https://bit.ly/3MOazYs

ALS is believed to arise from a mix of genetic and environmental influences, though the exact cause(s) remains unknown.

#ALS #ALSResearch #ALSRiskFactors #ALSAwareness #RareDisease #Neurology #Bionews #ALSNewsToday