Discover and read the best of Twitter Threads about #raredisease

Most recents (7)

I'm pleased that today is #RareDiseaseDay as I'd like to raise awareness of something close to my ❤️ - a condition called "Genitopatellar Syndrome".

Chances are you haven't heard of it as only a handful of people in the world have been officially diagnosed with it. /1
Sadly, one of them is my three-year-old niece. She's a sweet, smiley little girl who brings joy to all who know her. But she has also suffered multiple health problems since birth. These include blindness, club feet, hole in the ❤️, a missing corpus callosum, & kidney issues. /2
This #RareDisease is caused by a mutation of the KAT6B gene. Not much is known about it as it was only identified as the cause a few years ago. This link provides a good overall summary, though I believe the gene can mutate in different ways… /3
Read 9 tweets
Let me tell you a short story about #RareDisease and a horribly, illegally handled appeal for a life-saving med. (Warning: Graphic) #IhaveheardofMG #MGStrong @AnthemBC_News @PatientsRising @NPRHealth @MLive @annarbornews @DrashmanCNN @Channel4News @wxyzdetroit @MyastheniaOrg
Me before the spiral. #MGStrong: battling for years but making it work (and look how cute we were!) Engaged. Full-time biostatistician, Dog mom. #MyastheniaGravis #IhaveheardofMG
Then my #MyastheniaGravis flared...and never stopped. Unable to chew or swallow much beyond soup (& still w/aspiration pneumonia), walker-dependent, speech nasally and slurred, breathing always labored. #IhaveheardofMG #MGStrong
Read 14 tweets
1/I've said many times that I am poor because I am unemployed (except for my writing) and I am unemployed because I am disabled.

I am now officially rejecting that shit.

I am still disabled. I still am not employed.

#Disability #ChronicIllness #poverty
2/But the reason I am unemployed is because society has deemed me disposable. This isn't on me.

#disabled #DisabledPeopleMatter #PplWDisabilitiesMATTER
3/It's because society has decided the WANTS of the abled (specifically in my case, to use fragrance and decorate with balloons) are more important than my survival. This isn't on me.

#BanBalloonsInstead #fragrance #MCS #MCAS #allergy #asthma
Read 18 tweets
This November, millions of Americans’ access to health care is on the line. Each day from #100DaysOut to midterm elections, we’ll share the story of a Little Lobbyist who needs YOU to be a #HealthCareVoter for them. THREAD 0/100
#100DaysOut “Meet our kids and think of them when you vote. Our children deserve that.” @ElenaHung202

This November, Xiomara's access to health care is #WhatsAtStake. She needs you to be a #HealthCareVoter. 1/100
#100daysout Timmy would’ve lost his insurance in the NICU if he hadn’t been born just 6 days after the #ACA banned lifetime caps on care.

Timmy's access to health care is #whatsatstake this November. Be a #HealthCareVoter. 2/100
Read 101 tweets
THREAD FOLLOWS: If you didn’t get to read my article, I’m going to share the medically inappropriate #BCBSTN #Idursulfase #medicalpolicy and the denials we’ve received as part of that.…
Quick Primer on ultra #raredisease #HunterSyndrome: multi-system disease physically affecting bones, joints, liver, spleen, heart, airway, nervous system, auditory system causing progressive damage, function loss, pain, enlarged organs, carpal tunnel, hearing loss
2/3 of #HunterSyndrome patients also suffer cognitive impairment, behavioral challenges like combo ADHD/autism/OCD/SPD early in life. Some never learn to speak. Difficulty following basic commands, can’t follow sustained or complex requests.
Read 25 tweets
.@Doug_Lind_Say shares being a late bloomer as a kid. He got sick a junior summer during college, he was told he had mono. His life got worse, not better. #WTFix
He realized he probably had the condition his mother had. He had long had a vision of being a man of destiny. He was in bed 22 hours a day. Walk about 50 ft. Exceeding that he would be worse. #WTFix
The medical community offered @Doug_Lind_Say no home. He looked ahead and knew he could not follow his mother’s health path. A mentor shared if you want to make whatever everyone else makes, then you can, if you want something different you have to do something different. #WTFix
Read 24 tweets
How to stand out?

Have you ever shared a pink, red, or blue ribbon or donated during an awareness campaign? Did most of your friends already know about that disease? /1
For #rarediseases, awareness days are TRULY vital to educate people about diseases most of the general public have never heard of.

And if they’ve never heard of it, it’s hard to have sympathy/empathy, and this hard for groups to generate funding for research.
And when a disease is rare, by its nature, few are affected, so that equals:
- fewer people to start and run organizations,
- fewer friends, families, and companies to donate,
- fewer dollars to fund treatments and cures.
Read 6 tweets

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