Discover and read the best of Twitter Threads about #rarediseaseday

Most recents (12)

***BIG NEWS***
We couldn’t be more delighted with this #RareDiseaseDay announcement of a new Rare Disease Clinical Trial Network, from @hrbireland. And we're very proud to be part of it.
Full press release 👉
A thread 🧵 (1/6)...
Congratulations to Prof Rachel Crowley (@rachsail) & Prof Cormac McCarthy, of @UCDMedicine, for their drive to make a difference to the rare disease patients that they see in their clinics & people living with rare diseases all across the country.
#RareDiseaseDay (2/6)
Kudos to @hrbireland for getting behind their vision and for making such a big commitment to rare diseases, beyond their already significant commitments through the HRCI-HRB Joint Funding Scheme & other schemes.
@DonnellyStephen welcomed the announcement.
#RareDiseaseDay (3/6)
Read 7 tweets
Today @GeneticAll_UK is launching a new report, ‘Good Diagnosis:Improving the experiences of #diagnosis for people living with rare conditions’.

Read the full report…
Over a third of people living with a #RareCondition
will wait for more than five years to obtain a
definitive #diagnosis, often receiving a number of
#misdiagnoses along the way

The ‘diagnostic odyssey’ is a term used to describe the time taken between a patient first developing #symptoms and receiving a correct #MedicalDiagnosis. This can be a long and eventful journey.

Read 53 tweets
This February, in the lead up to #RareDiseaseDay, we're sharing some information about #RareDiseases, #RareCancers and #pseudomyxomaperitonei. You can help by liking and commenting our our posts and by sharing them. Thank you.
#pmpsurvivor #appendixcancers Image
In the UK the most common types of cancer are:
🟣 breast cancer in women
🟣 prostate cancer
🟣 lung cancer
🟣 bowel cancer

Then there are less common cancers, such as melanoma and bladder cancer. Then there are rare cancers including #pseudomyxomaperitonei and #appendixcancers. Image
Read 3 tweets
🟦 🟨 🟩 February 28 of each year is @rarediseaseday. According to @RareDiseases, more than 7,000 rare diseases affect between 25 and 30 million people in the United States. ImageImageImageImage
This means that one out of every ten Americans suffers from a rare disease — and more than half of them are children. ImageImageImageImage
Last night, @DanBensonNJ and I finally had the opportunity to meet Kinsley Geurds and her family in front of the "TRENTON MAKES • THE WORLD TAKES" sign affixed to the Lower Trenton Bridge. ImageImageImageImage
Read 8 tweets
Many of you don't know I am a caregiver to our son. He has had a lot of struggles in his life. We didn't know why. A few years ago when he was 29 he was in and out of the hospital for about 6 months. He was having a horrible bout of psychosis. That he never had
before. I kept begging for them to do an MRI. They kept refusing. I knew it had to be something with the brain. I also suggested a functional MRI. They refused that also. The decided on electrical convulsive therapy or ECT. I said I would only give them permission ig they did an
MRI first and not until. They asked my son's permission who was in no state to even give permission. I am his legal guardian. So they did the MRI. They told me they did a ct scan on him and it was fine. They did the ECT the next morning. They ended up doing 5-6 total. I told
Read 15 tweets
Os voy a contar una historia de un enigma diagnóstico por ser el #DiaMundialEnfermedadesRaras
Los padres de Kim acudieron a su pediatra porque notaban que algo no iba bien en su desarrollo (spoiler: los padres casi siempre tienen razón). Kim tenía 15 meses, aún no había dicho su primera palabra y no podía ponerse de pie ni caminar sin ayuda de sus padres.
Kim nació a las 39 semanas de gestación tras un parto absolutamente normal, con un peso de casi 3 kg. Era su primer hijo y por tanto, al no tener referencias previas, no se percataron hasta los 15 meses, al ver que no hablaba, que Kim tenía un retraso del desarrollo.
Read 20 tweets
February 29th is the #RareDiseaseDay! A special day for 13 million Brazilians with rare diseases like #idiopathic #pulmonaryfibrosis #ipf #cpfe, #systemicsclerosis #SSc #SScILD #ymphangioleiomyomatosis #lam
  and so many others!
A day to remember that the disease can be #rare, but NOT the #diagnosis ! After all, the #rare just wants #support, #care & be #welcome like all of us!
But they need all of us to be listened and respected in other to continue moving forward with #hope & making the world a better place for all ! " :) #rarediseaseday2020
Read 3 tweets
Today, the rarest day of the year is #RareDiseaseDay

30M Americans with rare diseases--95% with no treatments.

Meet my friend @DavidFajgenbaum whose rare disease almost killed him 5 times. He is spending his life chasing his cure and working for others.
@DavidFajgenbaum He identified a drug that's extending his life & others with #Castleman disease. And he is rallying for hope by founding the Castleman Disease Collaborative Network.
@DavidFajgenbaum He is unbelievably kind and a fearless champion of the patients that others give up on. If you want to read his amazing story or support this work:
Read 3 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
Setiap tahun terdapat banyak tarikh-tarikh penting yang diiktiraf sebagai tarikh untuk acara atau peristiwa tertentu. Namun pasti ramai yang tidak tahu adanya tarikh untuk "Hari Penyakit Jarang Berlaku" iaitu pada 29 Februari.
Pertubuhan Kesihatan Sedunia (WHO) mentakrifkan penyakit jarang jumpa atau dengan kata lain penyakit yatim piatu sebagai penyakit yang dihidapi oleh sebilangan kecil populasi am.
Manakala di Malaysia, Persatuan Penyakit Jarang Jumpa Malaysia (MRDS) telah mentakrifkan penyakit jarang jumpa sebagai penyakit yang dihidapi kurang daripada 1 dalam 4000 individu di dalam sesebuah komuniti.
Read 4 tweets
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
#RareDiseaseDay 2018, Part 3: Corn Allergy
Food allergies are not rare. However what IS rare is being so allergic to corn that you can have anaphylaxis from just smelling popcorn or corn chips and from cross contamination with traces of corn.
Even though I have over 30 triggers besides corn that cause me severe reactions, corn is STILL the reason for most of my food and activity restrictions. I have severe or even life-threatening reactions to the following things:
- Citric acid used as a preservative in food such as jams and jellies, or soaps such as Dr. Bronners. People think that citric acid is from citrus fruit, but actually it's produced by fermentation of aspergillus on a corn dextrose medium.
Read 17 tweets

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