Discover and read the best of Twitter Threads about #raredisease

Most recents (17)

Eine neue Odyssee mit der Krankenkasse.
Zuggerät für meinen Rollstuhl beantragt, weil es krankheitsbedingt keine möglichen Alternativen zur Elektrounterstützung für mich gibt und ich nach erneutem lebensbedrohlichen Zwischenfall ohne Hilfe kaum allein vor die Tür komme.
Die Alternativen sind E-Fix oder E-Motion. Durch meine Erkrankung und Hilfsmittel, die ich allein dafür benötige, sind diese Hilfsmittel für mich nicht dauerhaft im Alltag benutzbar, ich habe sie erprobt. Sie würden Schmerzen verursachen. Dass sie ungeeignet sind, ist bewiesen.
Zuggerät wurde abgelehnt, weil die nicht funktionierenden Alternativen angeblich für mich zweckmäßig seien. (Und vermutlich billig als Fallpauschale)
Daraufhin teilte ich der Kasse telefonisch mit, dass und weshalb die Alternativen für mich keine bedarfsgerechte Versorgung sind.
Read 11 tweets
I can't smell. Not because of cold or COVID. I can't smell by birth. It is called #CongenitalAnosmia (CA). In a chat with the @AbhiSuryawanshi, the only other Indian i know who accepts to not being able to smell by birth, told me that it is classified as a #RareDisease
As a kid i thought i will learn to smell, just like how anyone learns to speak or read. I acted like i could smell. I covered my 👃 along with all my classmates and blamed someone for the fart. It was my little secret that I can't smell. No one could tell & no one will believe.
I think my grandfather also suffered with #Anosmia. He struggled with smells but he never spoke about it. I think the reason he went to the other extreme of selling incense sticks and talcum powder to prove he was not. For obvious reasons, the businesses failed big time!
Read 14 tweets
Excited to share new preprint "Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing" led by @MorleyTheodore and with @NancyGenetics @lisa_bastarache @lhan111 @jonmorra8 medrxiv.org/content/10.110…
Genetic testing is the standard path to a diagnosis for people with a rare disease yet many who should receive a genetic test still do not or do so after years of diagnostic odyssey.
There are thousands of characterized genetic diseases with unique combinations of symptoms. However, many share a particular pattern of having multiple rare phenotypes often spanning organ systems.
Read 10 tweets
Bird’s-eye view 👁 on what to look out for @WCGIC #WorldGI2020.
Opening remarks on important data 📺 @myESMO - by Dr. Eric Van Cutsem @UZLeuven.
🟩Good to see more #PrecisionMedicine🧬
🟥#Immunotherapy #Immuno-#oncology
🟦TNT & other chemo strategies
@Annals_Oncology #OncoAlert
🆕#ctDNA #liquidbiopsies 🩸🧬
👀 👇🏾at the number of #clinicaltrials cropping up in this space‼️
🇦🇺DYNAMIC-II
🇦🇺DYNAMIC-III
🇺🇸COBRA @NRGonc
🇺🇸BESPOKE
🇺🇸@SU2C
🇯🇵 CIRCULATE
🌎COLUMBIA
🇮🇹🇪🇸PEGASYS
🇬🇧TRACC
🇩🇪CIRCULATE
🇫🇷crEATE
🇩🇰IMPROVE-IT
We have 2🇺🇸studies open. #CRCSM #WorldGI2020
#WORLDGI2020 This is 🆒 ☢️ 32-P EUS-guided implantation in #pancreascancer #PANCSM @myESMO @WCGIC @Annals_Oncology.

Still miles to go. OS median of 16 months pointing again to the systemic nature of disease. Need to piggyback these local approaches to better systemic. #OncoAlert
Read 55 tweets
My first 2 months at @EU_ScienceHub have been fascinating. I’ve begun to explore a rich tradition of scientific excellence spanning nearly 60 years.

Here are some of the things I have discovered so far ⬇️

THREAD
The core mission of @EU_ScienceHub is to provide science and facts to underpin EU policymaking.



/2
Our researchers work to support EU policymaking, from conception and design to implementation and monitoring. We have 6 different sites:

🇧🇪Brussels
🇧🇪Geel
🇮🇹Ispra
🇩🇪Karlsruhe
🇳🇱Petten
🇪🇸Seville

ec.europa.eu/jrc/en/about/j…

/3 Image
Read 22 tweets
#Dearwhitefriends,

Some of your reactions, some of your posts, some of your comments in the last few weeks on the state of racism in our country have made me cry. I have cried out to the Lord for you to understand.

1/
In spite of that, I’d rather you post them, because I’d rather know where you stand. I’d rather know that you’re not necessarily safe for me when I say that my son was followed in a store. I’d rather know that your reaction will probably be, “Well, what did he do? ...

/2
“He must have done something” than empathize and understand. I’d rather know that you’re not the person for me to take to lunch with my friends of color because they may not feel emotionally safe.

I’d rather know that you think if my son would just follow instructions...

/3
Read 10 tweets
First report I've seen of #COVID19 in Primary Immunodeficiency patients

- thankfully, both of survived

onlinelibrary.wiley.com/doi/epdf/10.11… #serverless #iot #itrtg #bigdata #scicomm #meded #COVIDー19 #PrimaryImmunodeficiency #immunology #raredisease
Lot of concern in the primary immunodeficiency community that COVID19 is an automatic death sentence. This report seems to show otherwise.
Amazing that with the astronomical Italian COVID19 death toll, these two patients - with among the most severe of Primary Immunodeficiencies - made it.

Much gratitude and respect to the medical personnel who saw them through their illness.
Read 13 tweets
It’s World FND month!

We’re also about to experience a global pandemic unprecedented in our lifetimes!

So why should you care about Functional Neurological Disorder?

👇👀
This thread isn’t meant to take away from the current focus on COVID-19. It’s an extremely dangerous development and it’s of course right that we take it seriously and prioritize it as we’re doing. 👍
But if you have room for something that looks grim at first but turns out to be an opportunity for positive change...

You might want to check this out.
Read 30 tweets
Let's talk about what we can learn from family #caregivers during the #COVID19 pandemic. Can the friends and families who care for someone else teach us something about #resilience and #wellbeing? 1/11
@NA4Caregiving #health #aging
#Caregiving can have a positive impact on our lives - helping us to feel valued as part of a care team, closer to those in our care. When we #care, we can have an improved sense of #purpose & even extend our life expectancy 2/11
@NA4Caregiving #COVID19 #health #aging #advocacy
While we're buying ALL the toilet paper, have we noticed that the #hiddenheroes in our midst -- the #caregivers might have something to offer having been through these same worries before? 3/11
#COVID19 #health #pandemic #caregiving #aging #advocacy @NA4Caregiving
Read 12 tweets
February 29 (the rarest day) is #RareDiseaseDay and this matters a great deal. It matters to me and my family, but also to millions of others who have stories similar to ours. If you follow me on @Twitter, you probably know some of my story.
I don’t want to bore you by telling it again, but I do want to talk a bit about what I’ve learned since my #diagnosis and since becoming a #RareDisease #advocate.
The first thing I learned was that even though it was a relief to have a diagnosis...(i.e. some sort of validation that there was a reason I didn’t feel well my whole life), it was really really hard to come to terms with having this new label.
Read 27 tweets
THREAD:
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 dovemed.com/diseases-condi… /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 bsun.md/2LTlco6

This November, Xiomara's access to health care is #WhatsAtStake. She needs you to be a #HealthCareVoter. 1/100

bit.ly/2K3XYtQ
#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. bit.ly/2sAzoJV

Timmy's access to health care is #whatsatstake this November. Be a #HealthCareVoter. 2/100

bit.ly/2OrNcRt
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.
melissahogan.me/bcbs-tn-wants-…
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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