Latest posts tagged with #RareDisorder on Bluesky
I have eye issues associated with my cerebellar ataxia. My eyes can't follow a moving object between 2 points accurately, the muscles are weak & lack control. This is called abnormal saccades, & exercises to try and slow its advance often don't work.
This+poor balance=falls.
#ataxia #raredisorder
sorry if it’s too scary for you but it’s the design of the new oc i’m making but it will come out cooler when it’s ready hope i don’t scare you too much i’m sorry😓
(⚠️‼️WARNING: SCARY FACE JUMPSCARE WARNING!!!⚠️‼️)
✨🧪🧬🥼💜W.I.P💜🥼🧬🧪✨
#WIP #W.I.P #Sprunki #SprunkiOC #Sprunkiincredibox #OC #OCArt #Art #DigitalArt #MadScientist #Science #MentalCondition #MentalHealthAwarenessDay #MentalIllness #Disorder #RareCondition #RareDisorder #Mental #Crazy #Freak
Children with a devastating, #raredisorder of #coppermetabolism, called #Menkes disease, now have an #FDA-approved #treatment for the first time.
The September issue of the Chapter newsletter is now available. tinyurl.com/nu4599jn
#bleedingdisorders #manitoba #winnipeg #vonwillebranddisease #hemophilia #raredisorder #community #education
There Is a Rare Disorder Where People See Other Faces as Dragons #Science #HealthandMedicine #MentalHealth #RareDisorder #Neurobiology
Orange background with white text reading "See the future VISION AWARENESS FACT OF THE DAY Protect Your Vision Today." Below the text is a simple white eye icon. At the bottom is the logo for "Wisdom 4 The Blind" with the tagline "Sharing Wisdom for All."
Orange background with a white eye icon at the top. Below it, bold white text reads "FACT OF THE DAY." Underneath is smaller white text stating: "Norrie disease is a rare genetic disorder causing blindness at birth, mostly in boys. It can also lead to hearing loss, developmental delays, and affects fewer than 500 people worldwide." The bottom features the "Wisdom 4 The Blind" logo and tagline "Sharing Wisdom for All."
Learn about "Norrie disease", a rare genetic disorder causing blindness at or soon after birth. Mutations in the NDP gene affect retinal growth. Besides blindness, many develop hearing loss, developmental delays, or autism-like traits. #NorrieDisease #RareDisorder #VisionLoss
#TermsAndConditions
#RareDisorder #SexualHealth #WeirdButTrue #MedicalMystery #UnusualConditions #MensHealth
#QueerFear
#QueerHorror #LGBTQTV #InTheFlesh #UnderratedShows #ZombieDrama #HorrorWithHeart
#HeavyHomo
#PowerMetal #GayMetalhead #AvatarBand #MetalMusic #EmoButMetal #HeavyAF
What is Hypermobility? #hypermobile #zebra #hypermobility #collagen #dazzle #bendy #stretchy #soft #loosejoints #loose #jointpain #genetic #chronicillness #chronicpain #raredisease #raredisorder #comorbidities
🧠 “She ate her daughter’s cancer-treatment hair… and it nearly killed her.”
Subscribe to read more on www.pouringpotions.com
#Trichophagia #RapunzelSyndrome #ChicagoMed #RareDisorder #MentalHealthAwareness #Trichotillomania #HairEatingDisorder #MedicalDrama #MedicalAwareness #DigestiveHealth"
The NMD4C and MDC are pleased to invite you to our next CPD-accredited webinar Bulbar impact of SMA: approach to assessment and treatment!
📅 Tuesday July 8, 2025
🕝 6pm ET
🔗Register at: bit.ly/SMABulbarImp...
#LetsTalkNMD #webinar #education #NMD #raredisorder #SMA
Baroreflex failure (BF) is a rare form of autonomic dysfunction where the baroreflex mechanisms are not working properly.
Learn more: https://dysautonomiasupport.pulse.ly/fes0gmxgdw
#BaroreflexFailure #BF #dysautonomia #chronicillnesssupport #raredisorder
“It’s worst when night comes. In the #darkness, the #static is most vivid. But eventually, the scattered stars dancing behind my eyelids drift away, and I sink into the dark abyss of sleep.": buff.ly/kx0mKRs
via @nautil.us
#VisualSnow #RareDisorder #EyeHealth
Event poster for NMD4C and MDC webinar: Cardiac Neuromuscular Disease: Essentials for Neuromuscular Clinicians. Tuesday June 3, 2025 at 6pm ET.
The NMD4C and MDC are pleased to invite you to our upcoming CPD-accredited webinar!
✨ Talk Title: Cardiac Neuromuscular Disease: Essentials for Neuromuscular Clinicians.
🗓️ Date: Tuesday June 3, 2025
⏰Time: 6pm ET
Register at: bit.ly/CardiacNMDs
#cardiac #NMD #cardiachealth #raredisorder
My op-ed about the federal government's termination of the ACHDNC was just published on @statnews.com! I was driven to write this because newborn screening changed the course of my life forever. Please read and repost. www.statnews.com/2025/04/24/a...
#raredisease #raredisorder #newbornscreening
The #story of the #baby who challenged #doctors with his #RareDisorder for 20 years zorz.it/ZRGns | #60MinutesAustralia #TommTennent #researchers #SpecialCondition #FascinatingDiscovery #HyaluronicAcid
Short-video social media fosters community and shares lived experiences of rare diseases, offering insights that could enhance genomic care and patient support #GIMO #RareDisease #RareDisorder #genetics #genomics bit.ly/43ONvPh
This damn autoimmune disorder is no joke....
#microdosinghell #myallergiesarekillingme #tryingnottodie #itsadailything #raredisease #raredisorder #autoimmunedisease #autoimmunedisorder #addisonsdisease #ifyoucantmakeyourownstoreboughtisfine #lowcortisol #adrenalglands #minearebroken
In the mean time, he’s a happy kid who loves #spongebob, #tikis, and #pixarmovies and who just happens to be living with #sotossyndrome.
End
#rarediseaseday #raredisorder
#sotossyndrome is not a deadly disease, but still needs a lot more research as to why the mutation of the NSD1 gene causes the overgrowth. With all of the firings and grants being cut, who knows when/if we’ll ever know.
Part 5
#rarediseaseday #raredisorder
People with #sotossyndrome can have moderate to severe learning difficulties. They can also have behavioural issues including ADHD, phobias, obsessions and difficulties with speech and language.
My kiddo has speech apraxia and has autism.
Part 4
#rarediseaseday #raredisorder
Children with #sotossyndrome have other symptoms involved with the increased and rapid growth such as scoliosis, heart and kidney defects, hearing loss and problems with vision.
My kiddo has scoliosis and an enlarged aorta
Part 3
#rarediseaseday #raredisorder
One in 14,000 babies are born with #sotossyndrome. The cause is a mutation in the NSD1 gene. This gene provides instructions for making a protein that is involved in normal growth and development. My kiddo is 11 and is 5’7” and 150lbs.
Part 2
#rarediseaseday #raredisorder
Reframing my life after a rare degenerative disease diagnosis
Being diagnosed with a rare disease is a tough challenge but it’s not game over. I am fighting Ataxia by emphasizing new growth, says @frankejames.bsky.social
theprovince.com/opinion/op-e...
#Ataxia #raredisorder #raredisease
From @frankejames.bsky.social
theprovince.com/opinion/op-e... #Ataxia #raredisorder #raredisease #medicare #chronichealth
Looking forward to sharing tips & tricks for #raredisorder caregivers at tonight's #PraderWilli caregiver group @ NYU Langone Health! The #PWS community funded a pilot that led to NIH-funded Project WellCAST - & now we get to start sharing back what we're learning through this project!
journals.lww.com/continuum/fu...
Chronic Immune-Mediated Demyelinating Neuropathies
Karissa Gable, MDPeripheral Nerve and Motor Neuron Disorders p. 1357-1377 October 2023, Vol.29
#CIDP #ChronicInflammatoryDemyelinatingPolyneuropathy #RareDisorder #AutoimmuneDisease
Excited to #share my #raredisease story alongside some impressive ppl #CRISPR #science #hope #beyondthediagnosis #mucklewells #raredisorder
T1: A #raredisorder usually affects 200K Americans; 80% are genetic; 2/3 affect children; there’s approx 7k #rarediseases. #abcdrbchat
