Discover and read the best of Twitter Threads about #rarediseaseday
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Yesterday was #RareDiseaseDay . I take the opportunity to highlight a topic that will be one of my main focus for the years to come. Rare Disease are not rare... The sum of rare diseases affect around 300M people worlwide. 2 striking facts about it and words about my commitment 
There are over 7000 rare diseases and the number is growing as new ones are discovered and classified every year. 95 % of which don't have a specific treatment
The average time of diagnosis errancy is 5 years ! 5 years before you get what is happening to you... and then a very low chance to have a specific treatment
Hoy en el #RareDiseaseDay se busca crear conciencia sobre la existencia de las enfermedades raras y cómo afectan a quienes las padecen. En nuestro país no se hace lo suficiente para atender esta problemática. Abro 🧵 con las implicaciones más relevantes. 👇
En México, se considera una enfermedad rara a aquella que afecta a menos de 5 personas por cada 10 mil habitantes. Se estima que en el país existen entre 6 mil y 8 mil enfermedades raras diferentes, lo que significa que afectan a cerca de 7 millones de mexicanos y mexicanas.
Algunas de estas enfermedades con mayor incidencia en México son: la fibrosis quística, el síndrome de Guillain-Barré, la enfermedad de Huntington, la enfermedad de CharcotMarie-Tooth y la esclerosis múltiple.
Today is #RareDiseaseDay, and as a sickle cell patient advocate, I want to share the impact it has on the lives of millions around the world.
Sickle cell is a debilitating genetic blood disorder that causes severe pain, organ damage, and other life-threatening complications. Living with a disease like sickle cell means facing a daily battle against pain, fatigue, and isolation.
It means constantly fighting against a disease that most people have never heard of, and struggling to access the medical care and resources that we need to survive and thrive. But despite the challenges, I know that we are not alone.
#biology #iwasanenglishmajor #Lightfall #RareDiseaseDay #studentloanforgiveness #LevelUp2023 #TuesdayThoughts
"Money doesn’t buy happiness. Neither does materialism: Research shows that people who place a high value on wealth, status, and stuff are...
psychologicalscience.org/news/releases/…
"Money doesn’t buy happiness. Neither does materialism: Research shows that people who place a high value on wealth, status, and stuff are...
psychologicalscience.org/news/releases/…
#biology #iwasanenglishmajor #Lightfall #RareDiseaseDay #studentloanforgiveness #LevelUp2023 #TuesdayThoughts
...more depressed and anxious and less sociable than those who do not. Now new research shows that materialism is not just a personal problem. It’s also environmental."
...more depressed and anxious and less sociable than those who do not. Now new research shows that materialism is not just a personal problem. It’s also environmental."
#biology #iwasanenglishmajor #Lightfall #RareDiseaseDay #studentloanforgiveness #LevelUp2023 #TuesdayThoughts
"The findings have both social and personal implications, says Bodenhausen. “It’s become commonplace to use CONSUMER as a generic term for people,” in the news or...
"The findings have both social and personal implications, says Bodenhausen. “It’s become commonplace to use CONSUMER as a generic term for people,” in the news or...
#biology #iwasanenglishmajor #Lightfall #RareDiseaseDay #studentloanforgiveness #LevelUp2023 #TuesdayThoughts
You just have to love articles like this. The title will tell you that the reason is "worry about recession", but there is no actual evidence...
msn.com/en-us/money/ma…
You just have to love articles like this. The title will tell you that the reason is "worry about recession", but there is no actual evidence...
msn.com/en-us/money/ma…
#biology #iwasanenglishmajor #Lightfall #RareDiseaseDay #studentloanforgiveness #LevelUp2023 #TuesdayThoughts
...that is truly the reason.
" 'Consumers MAY be showing early signs of pulling back spending in the face of high prices and rising interest rates,' said Ataman...
...that is truly the reason.
" 'Consumers MAY be showing early signs of pulling back spending in the face of high prices and rising interest rates,' said Ataman...
#biology #iwasanenglishmajor #Lightfall #RareDiseaseDay #studentloanforgiveness #LevelUp2023 #TuesdayThoughts
...Ozyildirim, senior director of economics at the board."
But we are speaking about run of the mill economists here that regularly get things wrong.
...Ozyildirim, senior director of economics at the board."
But we are speaking about run of the mill economists here that regularly get things wrong.
🧵 A few facts from our recent research review showing why more awareness and research are needed for familial brain aneurysm syndrome...
#RareDiseaseDay #Genomics #Research
#RareDiseaseDay #Genomics #Research
1) No one is collecting prevalence data in the UK. Globally, research suggests the prevalence of unruptured brain aneurysms in people with a family history has been recorded as 2.3%-29.4%. This is higher than in the general population, reported to be around 0.02%-8.8%.
2) Researchers looking into familial brain aneurysms have found more than 30 genes linked to increasing the susceptibility to brain aneurysm development in families. No single gene or multiple genes have been confirmed, but a breakthrough will come with more research.
Am 28.02. ist #RareDiseaseDay
Auch wir sind von einer seltenen Erkrankung betroffen. Unsere Tochter hat RTD, Riboflavin Transporter Mangel.
Hier unsere Geschichte in Kurzfassung #shareyourstory
Auch wir sind von einer seltenen Erkrankung betroffen. Unsere Tochter hat RTD, Riboflavin Transporter Mangel.
Hier unsere Geschichte in Kurzfassung #shareyourstory
Aktuell gibt es weniger als
100 Betroffene weltweit. Es ist wichtig, diese und andere seltene Erkrankungen sichtbar zu machen.
100 Betroffene weltweit. Es ist wichtig, diese und andere seltene Erkrankungen sichtbar zu machen.
Im Juli 2020 habe ich unsere Tochter auf die Welt gebracht. Sie war ein zuckersüßes, gesundes Baby.
Die ersten 7 Monate hat sie sich zeitgerecht entwickelt.
Die ersten 7 Monate hat sie sich zeitgerecht entwickelt.
📭 Ya está abierta la votación del público del 3º Concurso #CIBERER de #fotografía📷 sobre #investigación en #enfermedadesraras ow.ly/Q42L50MQIlC
🖼️Vota aquí👉 ow.ly/GTEz50MQIlB
🖼️Vota aquí👉 ow.ly/GTEz50MQIlB
...🧵¿ya has votado tu foto favorita?
Te presentamos todas las fotos del #concurso
👉Empezamos hilo con la #foto "Horizonte de esperanza para VHL"
📌Aquí la #descripción y #votaciones👉 ow.ly/GTEz50MQIlB
#InvestigarEsAvanzar #RareDiseaseDay #ER
Te presentamos todas las fotos del #concurso
👉Empezamos hilo con la #foto "Horizonte de esperanza para VHL"
📌Aquí la #descripción y #votaciones👉 ow.ly/GTEz50MQIlB
#InvestigarEsAvanzar #RareDiseaseDay #ER
🎞️ "No todo son #neuronas" es el título de esta nueva #foto del #concurso de #ER
📌Si te gusta vota aquí👉 ow.ly/GTEz50MQIlB
#InvestigarEsAvanzar #RareDiseaseDay
📌Si te gusta vota aquí👉 ow.ly/GTEz50MQIlB
#InvestigarEsAvanzar #RareDiseaseDay
***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 👉 bit.ly/3ssuejN
A thread 🧵 (1/6)...
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 👉 bit.ly/3ssuejN
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)
#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)
@DonnellyStephen welcomed the announcement.
#RareDiseaseDay (3/6)
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 geneticalliance.org.uk/gauk-news/news…
#GeneticAllianceUK
#RareDiseaseDay2022
#RareDiseaseDay
Read the full report geneticalliance.org.uk/gauk-news/news…
#GeneticAllianceUK
#RareDiseaseDay2022
#RareDiseaseDay
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
#RareDiseaseDay2022
#RareDiseaseDay
will wait for more than five years to obtain a
definitive #diagnosis, often receiving a number of
#misdiagnoses along the way
#RareDiseaseDay2022
#RareDiseaseDay
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.
#RareDiseaseDay2022
#RareDiseaseDay
#RareDiseaseDay2022
#RareDiseaseDay
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
#pmpsurvivor #appendixcancers
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.
🟣 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.
@threadreaderapp unroll
🟦 🟨 🟩 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.
This means that one out of every ten Americans suffers from a rare disease — and more than half of them are children.
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.
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
#RareDiseaseDay
#RareDiseaseDay
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
Os voy a contar una historia de un enigma diagnóstico por ser el #DiaMundialEnfermedadesRaras
#RareDiseaseDay
#RareDiseaseDay
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.
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!
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
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.
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: amazon.com/dp/1524799610/
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.
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.
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
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
#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.
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.
