Discover and read the best of Twitter Threads about #RareDiseases

Most recents (20)

The intrusion into the practice of medicine is based on race, gender, sex and disability discrimination.

1st target #Pain management
2nd target Gender Affirming Care
3rd target #Abortion
What will they target next?

#StopCriminalizingPatientCenteredCare The intrusion into the practice of medicine is based on race
Misinformation & propaganda is being disseminated by the government and still floods the media. The #Gaslighting of America has been extremely effective.…
Individuals with incurable chronic illnesses, #RareDiseases #Disabilities that involve severe pain as a component are being deprived of appropriate medical treatment.
Read 22 tweets
Drug discovery for complex diseases like #Parkinsons (#PD) is challenging - we need screenable cellular phenotypes to move faster. Today in @NatureComms, we present an #AI-driven phenotyping platform that identifies #PD hallmarks in patient cells:… 🧵(1/11)
By combining our cell culture #automation, #CellPainting, high-content imaging, and #DeepLearning methods, we built a robust platform for phenotypic profiling and collaborated with @GoogleAI to screen fibroblasts from 91 #Parkinsons patients and matched healthy controls (2/11)
We profiled images of nearly 6 million fibroblasts, creating the largest publicly available #CellPainting dataset to date at 48 terabytes (3/11)
Read 11 tweets

Through 2021 young people living with #RareDiseases share their experience of transitioning from paediatric to adult care in this new report created by Costello Medical in collaboration with @camraredisease & @RareBeacon

Please download & share
Transition has been described as “the purposeful and planned movement of adolescents and young adults with chronic physical and medical conditions from child-centred to adult orientated healthcare systems”.

But were their experiences planned & purposeful?

In the UK Rare Diseases Framework published Jan ‘21, it’s recognised that we must address “the challenges in ensuring continuity of care across paediatric and adult services” to reduce the burden of care on patients and their families.

@DHSCgovuk @GeneticAll_UK #CONCORDstudy
Read 10 tweets
Young people living with #RareDiseases share their experience of transitioning from paediatric to adult care in this new report created by Costello Medical in collaboration with @camraredisease & @RareBeacon

Download & share
“There is a difference between transition, which is a process and should start early, and transfer of care which is when someone becomes the responsibility of adult services.”

Liz Morris Lead Specialist Nurse in Lysosomal Storage Disorders, Addenbrooke’s Hospital
What needs to improve?

1️⃣ Strengthen the coordination of transition processes for young adults with rare diseases
Read 6 tweets
1/ Bill, l #Australia is NOT "the answer" to the next #pandemic if all countries responded the same

#disease, #poverty, #child dev dont go on vacation for a #pandemic. All of these will always lead to > death than the pandemic if Australian measures are enacted

We'll explain...

1) #UNICEF has >500M in severe poverty due to measures advocated by you and #Australia and NZ. 1:10 will die from severe poverty

Conservatively, that is > 10M deaths. & If all had done that millions more would die for just poverty

And #children die the most from poverty
2) 15M #cancer #patients need #Treatments. Over 50% aren't compliant & new diagnoses are down ~70%

Combined, we have ensured from #COVID19 measures the deaths of 5-10M cancer patients, conservatively

Those #s increase with a global #Australian / NZ response
Read 6 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
Apertura ✍️ 6ª Edición Summer School Investigación, Evaluación, Regulación y Acceso a medicamentos, que tendrá lugar en modalidad
🖥️ 🌐 Pretraining del 11/04 al 27/05/2022
👭👫Curso presencial del 6 al 10/06/2022 en Castelldefels, Barcelona.
➕ ℹ️ 🔗👇… Image
El valor añadido de la participación del paciente en el diálogo temprano en la @EMA_News : asesoramiento científico como estudio de caso.
Dra.Maria Mavris @kardamyla, patient relation de la
@EMA_News y el Dr.Torrent-Farnell, profesor de
@UABBarcelona y presidente del Comité Científico Asesor Externo del @CIBERER nos explican el curso #SSSE2022
📹 👇
Read 63 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
1/12 Thread: Imagine sitting in a doctor's office/hospital room & being told by a random person there is nothing wrong with you. Now imagine that the person telling you this has an MD after their name. Next, consider that this is not the first time you have heard this message...
2/12 What would you be thinking? What would be going through your mind? You know how you have been feeling. You know your symptoms, your functional limitations created by those symptoms. You know how you felt and how you were functioning prior to a drastic change...
3/12 The test results you have had definitely do not say there is nothing wrong. They say something is off. It could be this or that. It most certainly is not in your head. So why would someone with MD after their name even try peddling such nonsense?
Read 12 tweets
@ReeseSTyrell 1 of 2
#Surveillance of millions of Americans, physicians, pharmacies; brought to u by #DEA
#DataMining in #healthcare incl but not limited 2
#ChronicPain #intractablepain #OUD
#Anxiety #PTSD #Cancer
Request fo proposal:…
See pics for "Statement of work"
@ReeseSTyrell 2 of 2
Remaining pics, "Statement of work" required for proposals to #DEA #Surveillance & #DataMining in #healthcare!
States & DEA already going after drs who dare 2 treat, Rx med necessary #opioid analgesics for #ChronicPain #intractablepain pts

#MMEMafia will only get worse.
@ReeseSTyrell #PatientSurveillance by #DEA…
#DataMining in #healthcare for specific populations.
Have #chronicillness #ChronicPain #RareDiseases #Anxiety #OUD? Your medication will determine if you'll b under surveillance.
Think your privacy is protected? Think again
Read 4 tweets
Thank you to @BethDarnall for speaking at #Minnesota @MinnesotaDHS #Opioid Work Group mtg on Thursday: Spoke of importance of #patientcenteredcare, #patientconsent necessary if taper & strongly advised AGAINST force tapers & using pre-determined MME'S. #ChronicPain #NoOneSize
MN #opioid Work Group created Taper Guidance. It will be out 4 public comment soon. Some areas extremely problematic. Although it states NOT 2 taper solely 2 meet system or state policy; MN Quality Improvement requires Drs 2 meet MME thresholds = TAPER TO MEET STATE POLICY. 🤔
If #ChronicPain pt wants 2 try 2 taper from #opioid analgesics 4 any reason & CONSENTS, there needs 2 be safe way 2 do it. Problem throughout U.S, incl #Minnesota; is non-consensual tapering. Many experts, incl #addiction specialists, stress dangers & even state it's UNETHICAL.
Read 11 tweets
Pharmacy Benefit Managers have undoubtedly created barriers 4 patients w #ChronicPain #intractablepain #PalliativeCare #RareDiseases w medical necessity for #opioid analgesics. Citing CDC GLs & going even further. This ex shows 67% decrease in Rxs.…
All PBMs do something of this nature & plans vary. They should look for & prevent abuse & fraud, but as outlined in their own literature on policy, Benecard is absolutely interfering btw Drs & patients by using CDC GLs & unilateral decisions on what is appropriate for a patient.
Per CDC, based on their clarification of intent of #opioid guidelines; these policies meet definition of misapplication & misinterpretation. Being as @CDCgov @CDCInjury neglects to intervene in official capacity; PBMs, #healthcare insurance companies will continue this practice.
Read 5 tweets
#RareDiseases are not rare. One example is Hyper-IgD Syndrome, an #autoinflammatory / #PrimaryImmunodeficiency disease. Wonderful collaboration extending over 5 years between Kozhikode Medical College, CMC Vellore and CSIR-IGIB as part of the #GUaRDIAN… Image
Our #genomic analysis suggests that a few variants account for the majority of the patients with HIDS in South #India with implications in #diagnosis, as well as in the development of cost-effective approaches for #genetic #diagnosis and #screening

@Primary_Immune @MoHFW_INDIA
Read 3 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
🤔...Tonight I am wondering:

Do the lives of #rarediseases #PID patients matter as much as the lives of patients affected by more 'common' conditions such as #COVID__19 ?

Does #plasma save lives?

Answer= YES
#hyperimmuneglobulins derived from plasma are under development and potentially could save the lives of people with severe forms of #COVID19. Isn't this great?

Answer= Yes!
Read 10 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
Today, The Lancet dedicates the 9th #China-themed issue to evaluate progress of China's health-care reform since 2009

Starting with an Editorial and including new Commentary, Research and a Review on progress and gaps in #UHC Image
"The more progress is made in China's health-care reform, the more challenges will arise for further improvements"

NEW Editorial on China's health-care reform in our #China issue Image
"The results of the 2018 survey & the Action Plan give reason to hope that the turning point for tobacco control in China will not be far away"

Healthy #China 2030: an opportunity for #tobacco control—X Li, Deputy D-G, Chinese CDC & G Galea @WHO, Beijing Image
Read 6 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
About 6 years ago I was diagosed with rare genetic blood #cancer called polycythemia. Since then it’s progressed & become post-polycythemia vera myelofibrosis. 36 months ago I was also diagnosed with multiple myeloma.

I have fought every single day to stay alive. I’m alive bcos we belong to #Euratom European atomic energy community - it also deals with medical radiation treatments.

For more on Euratom see here:…

I also rely on the British participation in the ERN’s. These are European Reference Networks which allow collaboration across EU member states and they do essential work on #rarediseases making my, & many other ppl’s, treatment possible.

Read 13 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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