Ga naar inhoud

Alle Activiteit

Deze weergave wordt automatisch ververst

  1. Laatste week
  2. White women with sarcoidosis and multiorgan involvement may be at a higher risk of hypothyroidism, or low thyroid gland activity, than other people with the overactive immune system disorder, according to a study of more than 3,800 patients in the U.S. In fact, hypothyroidism — which is significantly associated with fatigue, depression, fibromyalgia, obesity, and sleep breathing disorders — was reported in 14% of sarcoidosis patients, the data show. While the causes of hypothyroidism in sarcoidosis patients remain unclear, these findings suggest that the possibility of an underactive thyroid should be assessed as a potential co-existing condition. That is especially the case in patients with multiorgan involvement, fatigue, and depression, the researchers noted. Recommended Reading June 4, 2019 Columns by Athena Merritt Sarcoidosis Survival Mode: Strategies for Dealing with Fatigue The study, “Prevalence and characteristics of self-reported hypothyroidism and its association with nonorgan-specific manifestations in US sarcoidosis patients: a nationwide registry study,” was published in the journal ERJ Open Research. Sarcoidosis is a highly variable inflammatory disease that can lead to the formation of small abnormal lumps or nodules — called granulomas — in virtually any organ in the body, most commonly the lungs. Previous studies have suggested that sarcoidosis patients are at higher risk for hypothyroidism, and for the abnormal production of antibodies against the thyroid, also impairing its activity. However, the exact frequency, clinical characteristics, and impact of hypothyroidism in sarcoidosis patients remain largely unknown. To address this knowledge gap, researchers in the U.S., in collaboration with the Foundation for Sarcoidosis Research (FSR), analyzed data from 3,822 sarcoidosis patients who responded to FSR’s Sarcoidosis Advanced Registry for Cures Questionnaire between June 2014 and August 2019. The self-reported, web-based questionnaire provided data related to demographics, diagnostics, organ involvement, manifestations such as hypothyroidism, physical and psychosocial impact, and treatment of sarcoidosis. According to the researchers, this was the largest published study to assess the frequency, characteristics, and potential impact of an underactive thyroid in sarcoidosis patients. The results showed that hypothyroidism was reported by 538 (14.1%) patients, who were significantly older (45.1 vs. 43.1 years), and more frequently women (90% vs. 71%) and white (91% vs. 78%) than those who did not report the thyroid condition. This frequency of hypothyroidism was “remarkably higher than what is reported in the general population, which ranges between 3% and 7% in the United States,” the researchers wrote. It was, however, similar to “what has been observed in other smaller sarcoidosis [groups],” the team wrote. Notably, 20% of all white female patients involved in the study reported having symptoms of hypothyroidism. In addition, a significantly greater proportion of patients with self-reported hypothyroidism reported multiorgan involvement (51% vs. 46%), and more of them had manifestations in the skin, eyes, joints, liver, and lacrimal glands, involved in tearing of the eyes. Simultaneous health conditions related either to sarcoidosis or to corticosteroid use also were significantly more frequent in the hypothyroidism group than among those without an underactive thyroid. The researchers then looked at potential links between hypothyroidism and other manifestations, since the condition has previously been associated with depression, obesity, sleep apnea — when breathing stops and restarts during sleep — chronic fatigue, and fibromyalgia in the general population. Of note, fibromyalgia is a condition associated with widespread pain and fatigue. Recommended Reading June 25, 2020 News by Marta Figueiredo PhD Severe Fatigue Very Common in Pulmonary Sarcoidosis Patients, Dutch Study Shows When adjusting for potential influencing factors, self-reported hypothyroidism was significantly associated with obesity, sleep apnea, chronic fatigue, depression, antidepressant use, and fibromyalgia. Sarcoidosis patients with hypothyroidism also were significantly more likely to have missed more than seven work days in the previous year, or to terminate their jobs due to their illness, suggesting they experienced greater physical impairment. When a University of Florida database with an additional 2,189 adults with sarcoidosis were examined, the researchers obtained similar findings. Notably, a greater proportion of African American patients were included in this group as compared with the online survey respondents (38% vs. 18.5%). Those results showed that 15% of patients had hypothyroidism, which was significantly associated with depression, fatigue, fibromyalgia, obesity, and sleep apnea, suggesting that the study’s findings may be generalized to the overall sarcoidosis patient population. Also, given that chronic fatigue was previously associated with depression, obesity, sleep apnea, and fibromyalgia, this study’s findings suggest that “fatigue in sarcoidosis is multifactorial and may also be linked to hypothyroidism,” the team wrote. The data highlighted that “hypothyroidism is a frequent comorbidity in sarcoidosis patients, is often associated with sarcoidosis multiorgan involvement, and might be a potentially reversible contributor to fatigue, depression and physical impairment in this population,” they added. “We recommend considering routine screening for hypothyroidism in sarcoidosis patients especially in those with multiorgan sarcoidosis, fatigue and depression,” the researchers wrote. Still, whether hypoparathyroidism in this patient population is caused by the formation and accumulation of granulomas inside the thyroid, by sarcoidosis-associated abnormal immune responses, or by the use of certain hypoparathyroidism-causing medications remains unclear, the team noted. Further research is needed to better understand the causes of hypothyroidism in sarcoidosis, identify common disease-associated pathways, and assess the impact of hypothyroidism in non-organ-specific symptoms in sarcoidosis patients. The post White, Female Patients May Face Higher Risk of Hypothyroidism appeared first on Sarcoidosis News. Link naar het originele artikel
  3. Joachim

    ‘High Risk’ Means Always Staying Vigilant

    As I write this, I just learned of the passing of former U.S. Secretary of State Colin Powell. Admittedly, Powell had so many achievements that I’m not sure which title is most appropriate — general, secretary, or chairman. In the coming days and weeks, no doubt many words will be written and articles published to pay tribute to the life of this man. As a Black man in college when Powell first attained national prominence, I found it easy to view him as the trailblazer he was. While his politics didn’t consistently match mine, he was still a giant of a man in my eyes. But his lifetime of service isn’t what caught my eye in the New York Times article I read following his passing. What caught my eye was that Powell died from COVID-19 as a fully vaccinated immunocompromised person. Recommended Reading April 23, 2021 News by Vanda Pinto PhD Short In-hospital Exercise Program Found to Improve Patient Health The world has been in some form of COVID-19 disruption for over 18 months. The changes in our lives, and in science, during this time will undoubtedly be reviewed and analyzed historically for years to come. Beyond the remarkable scientific achievements, long-needed discussions on racial and social justice have also taken place. Yet, for those of us with a rare disease like sarcoidosis, these times are also marked by seemingly unending challenges of managing our health, both physical and mental. Because of the medicines I take, such as the frequently prescribed corticosteroid prednisone, I am immunocompromised. But without these medications, my lungs will eventually struggle. So, it’s a medical choice with only sad options. Either I take medications that make me immunocompromised and put me at a greater risk for COVID-19 and other illnesses, or I don’t take them and allow sarcoidosis to do bad things to my lungs, skin, and bones. Either way, I’m high risk, so taking all of this medicine is an easy choice for me. With medications, I’m able to have something that resembles a “normal” life, albeit with a major challenge to my immune system. At this point, I’ve had three Pfizer-BioNTech COVID-19 vaccine shots, including a booster two months ago. I’ve already added shots for flu and pneumonia. I’ve done all the things medically possible to prepare my body for the current pandemic. Yet, as my doctor at the Johns Hopkins Sarcoidosis Clinic told me, vaccine efficacy isn’t always the same for immunocompromised folks like me. The vaccine may work for me, or it may not. Similar observations have been made by the experts at the U.S. Centers for Disease Control and Prevention. While I’m saddened that others like me have passed away from COVID-19 complications, Powell is the first famous person I recognized who died from COVID-19 while immunocompromised and fully vaccinated. Selfishly, it makes me worry about my own safety and that of others like me. Unfortunately, even when you know something is possible, sometimes seeing it happen to someone you know, or know of, makes it all the more real. Now, will Powell’s death change my habits? Well, I’m already quite careful with crowds and sanitation, and I consistently wear a mask the moment I leave my home. But if anything, it is a reminder to me to stay vigilant and be careful. As fellow Sarcoidosis News columnist Charlton Harris (no relation, as far as I know) says, “We Can’t Let Fear Take Us Down a Rabbit Hole.” Because as much as we sarcoidosis warriors want to feel “normal,” sometimes “high risk” means we have to embrace the unusual to be responsible. Our health depends on it. Rest in Peace, Sir. *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post ‘High Risk’ Means Always Staying Vigilant appeared first on Sarcoidosis News. Link naar het originele artikel
  4. In a paper published today in the journal Science Translational Medicine, researchers at the Schroeder Arthritis Institute, part of University Health Network (UHN) in Toronto, have made a discovery that could lead to new treatments for axial spondyloarthritis (SpA), a painful and debilitating form of arthritis which affects 1-2% of Canadians and causes inflammation in the spine, joints, eyes, gut and skin.Link naar het originele artikel
  5. Our body clock allows bodily processes to occur at certain times of the day, like eating, sleeping and body temperature.Link naar het originele artikel
  6. Nutrients can work in surprisingly similar ways as medicines. Pharmacologists from Utrecht University conclude that more knowledge of the similarities between food and medicines could help develop diets to combat diseases.Link naar het originele artikel
  7. Joachim

    A Leap of Faith and a New Attitude

    Last week, I took a leap of faith, and it’s given me a new outlook on things. I had taken my car to the dealership for service. It turns out that it needed a whole lot more than an oil change; the mechanic told me that getting a new car might be a better way to spend my money than trying to have all the repairs done on the one I was driving. I’ve been out of work since 2016, the year before I was forced to start paying closer attention to my health issues. When I was working, I knew I had pulmonary sarcoidosis, but it remained in the background until about three years ago. I’ve been able to make ends meet by drawing from my retirement savings, but not having a job worried me. Nothing was coming my way, and that empty feeling made me feel like a failure. I began to worry that my health would affect my ability to get a job. Recommended Reading September 17, 2021 Columns by Kerry Wong From Rocky Roads to Smooth Sailing: How I Travel With Sarcoidosis But through it all, I’ve managed to keep my cool. Even amid mounting health, family, and financial issues, I have stayed calm. I’m surprised my post-traumatic stress disorder didn’t kick in. Instead, I felt like I was taking a little bit of a timeout to better assess what it was I was dealing with, and how I could somehow make things better. And then — my car. The next day, I went to the bank with all of the apprehension a man could carry on his shoulders. The night before, I had convinced my wife that we needed to put the home improvement loan we had been approved for on hold. A car was more important. I needed to be able to get to my doctor appointments. But then, some sunshine. At the bank, I was told my credit rating was excellent; I could get a loan for a new car at a good rate. I felt like somebody again. Somebody important. For three years, I had been focused on keeping things from getting worse, focused only on the negative. But now I was looking at an opportunity. I took the leap. Actually being able to secure a loan for a new car at a good rate has been the motivation I needed to put myself back in the game, to start looking for work again. Who knew that the thing that kept me up at night worrying would be the thing to motivate me to get back in the game? A long time ago, I was told, “There’s no player like a mortgage payer!” In other words, if you’re not paying your own way, you’re living by someone else’s dream. It’s about time I got motivated again. Putting myself out there has made me feel accountable, and this little victory has made me feel like there are still more out there waiting for me. There’s still some roar under this hood of mine. The lesson? Reclaim your spirit, claim your life, and own your adventure. *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post A Leap of Faith and a New Attitude appeared first on Sarcoidosis News. Link naar het originele artikel
  8. Earlier
  9. Doctors from the Children's Hospital at Westmead in Sydney have identified the first known case of multisystem inflammatory syndrome in an adult in Australia, according to a Letter to the Editor published today by the Medical Journal of Australia.Link naar het originele artikel
  10. A study published in the journal Thorax has found that children experiencing social disadvantage in their first few years of life have a greatly increased risk of asthma persisting into adulthood.Link naar het originele artikel
  11. Katbrecht

    Sarcoidose en ziekte van Hashimoto (te traag werkende schildklier)

    Hier zelfs een kwartet; eerst een trage schildklier sinds 2002, daarna endometriose sinds 2005 toen vitamine B12 tekort sinds 2011 en sinds vorige jaar sarcoïdose.
  12. Going down the rabbit hole is a real thing. I’ve often heard that phrase when it seemed I was going to let something consume all of my time and attention, to my detriment. As I like to say, “Don’t take yourself out of the game.” The phrase originated with Lewis Carroll’s “Alice’s Adventures in Wonderland.” In the story, Alice literally falls down a rabbit hole, which transports her to the alternate universe of Wonderland. I still view “going down the rabbit hole” as a process that can have negative or disastrous outcomes. I believe that going down a rabbit hole goes hand in hand with fear. I often think back to my hospitalizations. My longest stay was two months, thanks to two spontaneous pneumothoraces, and my shortest stay was overnight, a result of diverticulitis. To be crystal clear, diverticulitis is very painful, especially if you’re a man thinking you can hold off and let it pass. (I lost.) Recommended Reading February 28, 2020 Columns by Charlton Harris A Hospitalization Reminded Me There Are Good Lessons in the Toughest Challenges Over the years, I’ve learned that I can’t let certain pains pass. I’m not 19 anymore. My concern is, what if I had let fear take over my thoughts? What if I had allowed my thoughts about rehabilitation and healing to become fears? In some instances, I had let my fear with chronic illness dictate my behavior and thinking. The biggest secret I discovered is that developing a chronic health condition results in a new relationship. My relationship with my illness is no different from my other relationships. My spouse and I developed a relationship that allows us to coexist without choking each other. When my children came into my life, I had to develop relationships with them — though half the time, I feel like a visitor in my home with no veto power! When it comes to chronic health conditions, we have to treat them like a new relationship and make them work for us if we can. My relationship with pulmonary sarcoidosis makes me fearful at times. Nearly three years ago, both of my lungs collapsed, so now I must ensure my breathing is never compromised. I can tell you from firsthand experience that it’s critical to never underestimate the importance of oxygen or your body’s response to lack of it. Therefore, I’ve made my breathing a deliberate action. I no longer simply breathe; I now breathe with purpose. My purpose is to stay vertical, as I serve no purpose if I’m horizontal. That level of anxiety has made me more fearful to go out, enjoy life, and live to the best of my ability. Big, open spaces cause me the most anxiety. I always feel trapped, thinking that if something were to happen, I wouldn’t have help. It’s hard to pull myself away from the comfort of my house, television, and things that make me feel safe. I’m happy sitting on my couch with a cocktail, watching cooking shows that I saw while hospitalized, and not engaging in the daily fight of living and providing. I took an assessment of everything I’ve allowed to slip by me. I’m not proud, but this is the effect of going down the rabbit hole of fear and anxiety. I recently ran into a former work colleague from before I became partially disabled. (I say “partially” because I can’t physically move like I used to, but my mind hasn’t missed a beat and is sharp as ever.) I learned that he has faced some health challenges as well, but is starting a new job near my house. We’re planning to meet for lunch in a few weeks so I can show him some nice restaurants and we can catch up on our respective health issues. I wish him well on his new adventure, and am grateful to him for being a guardian of the rabbit hole. *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post With Chronic Illness, We Can’t Let Fear Take Us Down a Rabbit Hole appeared first on Sarcoidosis News. Link naar het originele artikel
  13. The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five RDDC groups are: Delays in diagnosis and treatment working group Research and clinical trials working group Provider education and engagement working group Patient and caregiver working group Government regulation, legislation, and policy working group According to the RDDC, people of color with rare diseases face disproportionate challenges in accessing quality care, and are underrepresented in research and clinical trials. The Black Women’s Health Imperative — a national, nonprofit organization focused on advancing health equity and social justice for Black women — launched the RDDC in 2020 to advocate for evidence-based solutions to racial and ethnic disparities in rare disease communities. “We started the Rare Disease Diversity Coalition to unite healthcare leaders, professionals, organizations and advocates to help rare disease patients of color overcome the many inequities they encounter on their journey from symptoms to quality treatment,” Linda Goler Blount, president and CEO of Black Women’s Health Imperative and an RDDC steering committee member, said in a press release. “Awarding the first Working Group Grants less than one year after our inception showcases our commitment to making a difference,” Blount added. Rare disease experts, diversity advocates, and industry leaders make up the working groups, which are “dedicated to the development and implementation of strategies that reduce disparities in the rare disease community, improve the quality and accessibility of care, and advance health equity in a time of rapid transformation,” the RDDC stated in its release. The working groups were recently invited to submit proposals for projects likely to have tangible results within the next five to 12 months. Solution grants will support a variety of these projects, including the creation of a family health history pilot to raise awareness on its importance for people of color. The pilot project is expected to be the basis of a later nationwide effort. Other projects are dedicated to the development of patient education materials about genetic testing and the exchange of genetic testing resources; the development of clinical trial videos for patients as educational tools, and other resources to encourage greater participation; and research into the composition of patient groups in rare disease clinical trials, in order to increase patient diversity in research. These grants will also fund the creation of a principal investigator/study coordinator pipeline program to encourage greater minority group participation in research, and an audit to better understand the needs of diverse rare disease patients and their caregivers in communicating with health experts, and in patient engagement and healthcare access. Other funded projects include the creation of an industry guide on creating inclusive and culturally sensitive patient materials, and materials for cultural sensitivity, awareness, and bias training for healthcare providers with continuing medical education accreditation. Regarding education, the solution grants will support a project on a medical student webinar series to heighten awareness of rare diseases in communities of color, the production of a medical school pipeline initiative to build trust and engagement with healthcare professionals, and the creation of a rare disease fellowship program to collaborate with RDDC member organizations for graduate students in the health sciences. Finally, the grants will support an advocacy policy proposal, building congressional support, and developing advocacy opportunities for RDDC members and patients. The policy working group will track and respond to executive branch regulatory proposals that are relevant to diversity in rare diseases. It is estimated that more than 30 million people in America have a rare disease. The RDDC believes that rare disease patients of color are most affected by racial disparities, and have been particularly impacted throughout the Covid-19 pandemic. The post Rare Disease Diversity Coalition Awards $600K to Combat Disparities appeared first on Sarcoidosis News. Link naar het originele artikel
  14. The sarcoidosis community took a serious hit when we learned of fellow warrior Rodney Reese’s passing on Sept. 25. A beloved husband, father, and grandfather, Rodney was also a friend, brother, and father figure to thousands of people living with sarcoidosis. We have lost a cherished member of our family. When someone is diagnosed with a well-known disease, the patient and their loved ones typically already have some understanding of it. But rare diseases like sarcoidosis involve an extra learning curve. Most of us have never even heard of the disease, so we take to the internet to learn what we can. One of the first things we often find is that actor and comedian Bernie Mac died from complications of sarcoidosis in 2008. Then, we learn that there is no cure for this rare disease, and it can affect various organs and bodily systems. Suddenly, we’re forced to face our own mortality. Most of us wonder how the disease will affect us, how much time we have left, and what kind of legacy we’ll leave behind. Recommended Reading September 23, 2021 News by Hawken Miller Uplifting Athletes Tackles Funding for Rare Disease Research, Awareness As we keep searching, though, we find organizations, support groups, and social media pages that connect us with other sarcoidosis warriors. We meet people who reassure us. They have sarcoidosis, but they are living and thriving. Rodney Reese lived, thrived, and truly embodied the title of “warrior.” Rodney was a tremendous presence in the sarcoidosis community, always finding ways to support others as a friend and mentor. He was one of the original patient ambassadors with the Foundation for Sarcoidosis Research (FSR), he founded his own organization, The Sarcoidosis Awareness Foundation of Louisiana, Inc., and he partnered with the Bernie Mac Foundation and Stronger Than Sarcoidosis on several projects. Beyond his involvement in these organizations, Rodney was there for anyone living with the disease. In the weeks since his passing, I’ve seen countless posts sharing stories about him, all with one common thread: Rodney made sure everyone he met felt welcome, cared for, and not alone. I asked a few members of the sarcoidosis community to comment on Rodney’s passing: “Rodney will always be remembered as a sweet, gentle, caring, strong man that advocated hard for the sarcoidosis community. He also had swag like no other. He may be gone from our sight, but never from our hearts. RIP.” — Cheryl Bradford “I remember meeting Rodney for the first time in Washington, DC at Rare Disease Week. … He put his arm around my shoulders and said: ‘Baby girl, you are with family now, and you will be alright.’” — Cathleen Terrano Rodney was charming and debonair, offering strength and compassion to anyone in his presence. He shared his story often to educate both the public and legislative officials about sarcoidosis. He hosted a support group and an annual Fire Truck Pull for a Cure fundraiser in Baton Rouge, Louisiana, and he helped anyone who wanted to get more involved in raising awareness, fundraising, and advocating. A few weeks ago, I learned that Rodney was in the hospital with COVID-19. He had been vaccinated, but sarcoidosis and the immunosuppressive medications used to treat it can affect a patient’s immune response. Ultimately, we may be more susceptible to the virus and at a higher risk of severe outcomes. Even from the hospital, Rodney reached out to his sarcoidosis family. He wanted to tell us that he was fighting as hard as he could, and to check if we were OK. As sarcoidosis warrior Frank Rivera shared in a blog post, “That is what Rodney is and was. Always there, always caring, always Rodney!” Sadly, those of us in the sarcoidosis community frequently read about someone passing; I’ve heard about three others since Rodney. It’s jarring even when we don’t know them personally. As much as we don’t want to think about it, it brings us back to our own mortality, as it could just as easily be us. We are often forced to reflect on our lives and our loved ones. But when it’s someone like Rodney who has made such an impact, it hits from multiple angles. We’ve lost a friend, a family member, an inspiration. Now, our community must draw on that inspiration and focus on living with sarcoidosis, not dying from it. We should follow Rodney’s lead and do as much as we can with the life that we have. That is his legacy. Who and what brings us joy? For both Rodney and me, it includes supporting other sarcoidosis warriors through ups and downs. Today, for me, it starts with this column. Losing Rodney has been devastating to our whole community, but we keep going — in his memory, in his honor, and in ours. Rest in peace, Rodney Reese. Rodney puts his strength on display at the FSR Ambassador Training in 2018. (Courtesy of Kerry Wong) *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post Losing One Warrior Affects the Entire Sarcoidosis Community appeared first on Sarcoidosis News. Link naar het originele artikel
  15. A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter. The project will only receive this funding if the campaign reaches its goal by Oct. 28 at 8:00 am EDT. “Rare,” a feature-length film, provides a “glimpse into the world of rare diseases and the unsung heroes that are pushing for medical breakthroughs,” Kickstarter stated on its campaign page. “This is a story about reframing adversity, about the importance of patient advocacy, and about attempting to achieve the seemingly impossible,” it continued. “We’ve got some great characters who are leaders in their fields, and we’re featuring the diseases they happen to be leading. They are changing the course of the face of medicine,” Areeg Sweis, one of the filmmakers, said in a press release. Sweis was inspired to make the documentary after reconnecting with a friend, Jessica Klein-Foglio. Before becoming a rare disease advocate, Klein-Foglio was a professional opera singer, performing with the New York Philharmonic and as a principal artist with the New York City Opera. Her career came to an end when her son Ben was diagnosed with Salla disease, an ultra-rare neurodegenerative disorder with fewer than 10 reported cases in the U.S. and about 140 cases worldwide. Jessica and her husband, Michael Foglio, struggled to find information about the disease, and were inspired to create the Salla Treatment and Research (STAR) Foundation to support research into Ben’s disorder. “It was all fortuitous timing,” Sweis said. “I was searching for a project, and when we reconnected, I was completely inspired by her story.” The documentary, which to date has been funded by those involved in it, features several researchers alongside the Foglios and other families as they navigate life with a rare disorder. “Rare” shows firsthand the journey from diagnosis to treatment, the power of community, and the belief that everyone can make a difference. “Rare” is dedicated to all the families affected by rare diseases, and aims to bring greater awareness to them. Of the roughly 7,000 known rare diseases, only 5% have a U.S. Food and Drug Administration (FDA)-approved treatment, so that an estimated 28.5 million of the 30 million Americans living with a rare disease do not have access to a disease-targeted treatment. “Expand this to the entire world, and that number grows to roughly 300 million — making this one of the most significant health challenges of our time,” the release stated. “It is true that people who have rare diseases are, to a certain extent, abandoned by the medical profession; not intentionally, but because there isn’t enough knowledge to convey and to use as a basis for treatments,” William Gahl, MD, PhD, a geneticist with the National Institutes of Health (NIH), said in the “Rare” trailer. Gahl, clinical director of the National Human Genome Research Institute at the NIH, is one of the medical professionals featured in the documentary. Others include Steven Walkley, PhD, of Albert Einstein College of Medicine, and Melissa Wasserstein, MD, with The Children’s Hospital at Montefiore. While the project focuses on rare diseases, it also aims to appeal to the general public by connecting to universal themes such as family and community. The film “is a story about overcoming obstacles,” Sweis said. There are a number of ways to support “Rare” and its crowdfunding campaign. Those interested can make a contribution without a reward “just because it speaks to you,” or choose to receive acknowledgements or gifts for contributions of $10 or more, like a “rare” T-shirt for a $35 contribution or a DVD pack of award-winning documentaries for $100. For more information about the film, visit or follow @ararefilm on Twitter, Instagram, and Facebook. The post ‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28 appeared first on Sarcoidosis News. Link naar het originele artikel
  16. (HealthDay)—Among patients with psoriasis and/or psoriatic arthritis, a considerable number are hesitant about the safety of COVID-19 vaccines and the effect they may have on their underlying conditions, according to a study presented at the annual meeting of the European Academy of Dermatology and Venereology, held virtually from Sept. 29 to Oct 2.Link naar het originele artikel
  17. Joachim

    What Running Has Taught Me About Pain

    November 2022 is a long time away, but I’m very excited for it. If all goes well, I’ll be running in the 51st TCS New York City Marathon. Why am I focused on 2022 when we are weeks away from this year’s marathon? Well, it’s because I just qualified for next year’s race! To be fair, I am extremely excited about this year’s marathon, too. The path runs less than a mile from where I live in Brooklyn, so I plan to walk to Barclays Center and cheer on my many friends who are running. I can’t wait! Yet, running in any race was an unrealistic dream as recently as 2019. Back then, I thought running a half-marathon was impossible. But I’ve since run three of them, including the 2020 and 2021 virtual Brooklyn Half Marathons. I’ve run multiple 10-mile and 10-kilometer races, and a few dozen 5-kilometer races. Amazingly, I’ve accomplished this all during the pandemic and with pulmonary sarcoidosis. I figure that if a half-marathon is possible, even with these sarc lungs of mine, then maybe a full marathon is, too. Recommended Reading April 23, 2021 News by Vanda Pinto Short In-hospital Exercise Program Found to Improve Patient Health The New York Road Runners has a 9+1 program that allows locals to earn a guaranteed spot in the TCS NYC Marathon. To qualify for the 2022 race, you must complete nine qualifying races and one qualifying volunteer activity in 2021. I just finished the process, with the Instagram pictures to prove it. My 2021 Brooklyn Half Marathon journey was even featured on News 12 Brooklyn. So, other than some paperwork (and a lot of training), I’m all set for 2022. More importantly, and much to my surprise, I’ve found that running has helped me manage my sarcoidosis. My doctor at the Johns Hopkins Sarcoidosis Clinic always encouraged me to stay active, as it results in better health outcomes. Perhaps I’m running more than she originally had in mind, but with her approval, it’s played a huge role in my overall health. When I initially decided to run the 2020 Brooklyn Half Marathon, my goal was simply to finish. I frequently ran and biked at Peloton Studios New York, and my instructors and friends there encouraged me to “explore the impossible.” That’s partly where my column title, “Run Your Own Race,” comes from. But running also taught me how to better manage my pain. I’m referring to the dull and chronic pain that so many sarcoidosis fighters deal with. My pain fluctuates, and sometimes my whole body likes to join in. But while my pain can be uncomfortable, it’s usually bearable and doesn’t require pain medication. In this way, I’m luckier than other sarc fighters. When I’m running, the first mile is always terrible. My mind is saying “stop” most of the time, my legs feel heavy, and my lungs usually tighten up a bit. I often want to quit as soon as I start. But then, around mile two, my body and mind open up. It’s hard to adequately describe this feeling, but if you’re a runner, I bet you know it. At that point, the running isn’t necessarily easier, but I mindfully and suddenly discover that my body is stronger than I realized. That’s when the real race begins. (I do feel obliged to say that sometimes it’s smart to just stop. Even those of us who like to push ourselves must learn the difference between discomfort and injury. In this case, I’m talking about discomfort that might require a push, but won’t cause injury. If it’s an injury, please stop, recover, and run another day.) Running has taught me that I can endure far more “healthy” discomfort than I previously thought possible. The discomfort is real, but it’s also temporary and worth fighting through. I didn’t understand this about pain before I started running. It’s helped me better distinguish between temporary and chronic pain. Both are tough, to be sure, but I handle each very differently. Now, I am aware that many sarc fighters simply cannot run. Sometimes our symptoms and pain are just too much. I see you, and sometimes I can’t manage it, either. Sometimes all we can do is all we can do. When I can run, I am always mindful of the blessing of movement. That blessing helped me finish my first three half-marathons, and it will hopefully help me through the 2022 TCS NYC Marathon. Prayerfully, in 13 months, I’ll see you at the finish line. *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post What Running Has Taught Me About Pain appeared first on Sarcoidosis News. Link naar het originele artikel
  18. The team of the adult nephrology-renal transplantation department of the Necker-Enfants Malades AP-HP hospital, Inserm and the University of Paris has carried out work, coordinated by Prof. Guillaume Canaud, which opens up new therapeutic perspectives for patients with lymphatic abnormalities linked to a mutation in the PIK3CA gene.Link naar het originele artikel
  19. A new study published in Nature has found that a single sulfatase contributes to the degradation of mucus that protects the intestinal lining, potentially leading to inflammatory bowel disease and colorectal cancer.Link naar het originele artikel
  20. An analysis of published studies has found a link between the use of antihypertensive mediations and the development of psoriasis, a chronic inflammatory skin disease.Link naar het originele artikel
  21. Joachim

    Confronting the Devils That Live Within Me

    “I trust everyone. I just don’t trust the devil inside them.” – John Bridger This quote is from one of my top 10 favorite movies, “The Italian Job.” In it, John Bridger, played by Donald Sutherland, leads a band of thieves before turning control of the group over to Charlie, played by Mark Wahlberg. I’m probably one of 20 people who include the movie in their favorites. Oh well. It’s good, action-packed, and I thoroughly enjoy watching it every time it’s on TV. I haven’t seen the movie in a few months, but for some reason, I started thinking about that quote recently. I don’t know if I was feeling down on myself because of the mental effects of sarcoidosis, or if I did something that really affected me. It might have been a combination of both. In the movie, the devil inside several characters consists of greed, pride, and selfishness. I started thinking about my own life and what devils live within me. Recommended Reading August 2, 2021 Columns by Charlton Harris The Biggest Challenge of Sarcoidosis Is Right There in the Mirror Certainly, living with sarcoidosis brings a level of self-pity. That could be one. Selfishness could also be a devil inside me, because sarcoidosis would have me believe that I should keep everything I gain for myself only. Because I’m living with something bad, I deserve all the good that I receive, and I don’t need to share it. I’ll think that people are only nice to me because of my illness. Not only is that selfish, but it’s also a mental handicap. I can’t tell you how many times folks have gone out of their way to accommodate my needs after seeing my handicap license plate or portable oxygen tank. If I don’t accept their kindness, I make sure to thank them and offer to reciprocate the favor. Other devils I live with are regret, loneliness, and abandonment. When I was hospitalized for two months, I was alone, except for a few days when my wife and some family members checked on me. After I was released, I was pretty much confined to my house. That’s when loneliness started creeping in. Shortly after that, I started regretting the life I now have because of sarcoidosis. The irony is that my condition was not my fault. Sarcoidosis found me, I didn’t look for it! I had to learn to live with this reality. Regret wouldn’t get me down, even though chronic health issues can make me want to quit on myself. Sometimes, I wake up in the middle of the night, and my breathing is hard and labored. I feel like I’m trying to catch my breath. By breathing deliberately and slowly, I start to come around. There’s no reason this should be happening, so I’ve had to step back and evaluate my situation. One issue is that I’m not doing enough during the day to make a difference in my life. This is called doubt. Doubt will take me out of the game faster than anything. Before I became ill, I was busy from 9 to 5. Now, being partially disabled, I have nothing productive to do except go to the gym, which keeps me physically and somewhat mentally stable. At times, I doubt if I’ll reclaim my independence. For those of us with sarcoidosis, that little voice in our head acts as a devil of sorts. Confusion, fear, and procrastination can keep us from living a new life. Some opportunities are missed, others are squandered. What will your excuse be? Remember, it’s the devil in a person that can’t be trusted, and we may distrust our own devils, too. *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post Confronting the Devils That Live Within Me appeared first on Sarcoidosis News. Link naar het originele artikel
  22. New research presented at EADV 30th Congress today unveils key insights on the characteristic differences in chronic spontaneous urticaria (commonly presented as hives) in children versus adults. The findings reveal chronic spontaneous urticaria is less severe in children than in adults, with lower rates of angioedema and thyroid autoimmunity, supporting the idea that different management strategies may be required.Link naar het originele artikel
  23. An investigation into the origins of the sensation of pain has led to the development of a novel and durable treatment for inflammatory pain that could be a promising alternative to opioids. The preclinical research was conducted by neuroscientists and pharmacologists, all in the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo. It was published Oct. 4 in Nature Communications.Link naar het originele artikel
  24. Joachim

    Glycerin is safe, effective in psoriasis model

    Patients with psoriasis have reported that glycerin, an inexpensive, harmless, slightly sweet liquid high on the list of ingredients in many skin lotions, is effective at combatting their psoriasis and now scientists have objective evidence to support their reports.Link naar het originele artikel
  25. A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug Administration (FDA)-funded initiative includes rare disease data from clinical trials, observational studies, patient registries, and real-world data. It also provides workspaces with advanced analytics for data interrogation, through which researchers are expected to advance the understanding of disease progression in rare diseases, develop mathematical models of disease, and improve clinical trial design. Created through a partnership between the National Organization for Rare Disorders or NORD, the Critical Path Institute, known as C-Path, and the FDA, the initiative is intended to find solutions to bottlenecks in drug development. “There is a lot of enthusiasm for seeing this platform become all it can be for patients and drug developers,” Jeff Barrett, PhD, C-Path senior vice president and RDCA-DAP lead, said in a press release. “It is not just about the data. This is a place to generate solutions in a highly collaborative way,” Barrett said. “We expect RDCA-DAP to be a place to promote candid dialogue, optimize patient selection and trial design, and co-develop the tools to further de-risk decision making for rare disease drug development,” he added. It can be challenging to create and run effective clinical trials to test potential therapies for rare diseases because of small patient populations and a lack of understanding of each condition’s causes, symptoms, and progression. Building on database expertise in a number of rare diseases, the RDCA-DAP will integrate disease data from multiple organizations and companies around the world and make it more accessible. The hope is that the new platform will lead to successful attempts to lower costs and encourage more companies and researchers to be involved in rare disease research. “Of the over 7,000 estimated rare diseases, more 90% have no FDA-approved treatment,” said Ed Neilan, MD, PhD, the chief medical and scientific officer at NORD. “And,” Neilan said, “currently the attention of the pharmaceutical industry is on 100 or 200 of these rare diseases. RDCA-DAP may bring attention to rare diseases that might otherwise remain relatively neglected.” The platform was publicly introduced and demonstrated for the first time at the all-day RDCA-DAP 2021 Virtual Workshop. More than 400 rare disease stakeholders attended the online session, with a total of 31 speakers and panelists from patient groups, industry, and academia. Workshop presentations showed how RDCA-DAP will curate data to find solutions to bottlenecks, and demonstrated the platform’s importance to academic, clinical, regulatory, and patient groups. Five patient profiles were featured that highlighted the importance of data sharing for rare diseases. “Identifying the burdens of disease and current therapies that matter most, what can be measured, and what would constitute a meaningful change, can provide insight on the clinical context for regulatory review and potentially more direct evidence of drug benefits and risks when collected using valid and reliable measures and tools,” said Theresa Mullin, PhD, the associate director for strategic initiatives at the FDA’s Center for Drug Evaluation and Research. Those interested in accessing rare disease data can find datasets of interest and request access through the platform. To submit rare disease data to the initiative, contact the project team at or visit and The post New Data-sharing Program Aims to Speed Innovation in Rare Diseases appeared first on Sarcoidosis News. Link naar het originele artikel
  26. (HealthDay)—Multisystem inflammatory syndrome in adults (MIS-A) presents about four weeks postacute COVID-19 with heterogeneous clinical symptoms, according to research published online Sept. 22 in JAMA Network Open.Link naar het originele artikel
  27. A randomized controlled trial found that the live shingles, or varicella-zoster, vaccine was safe and showed short-term efficacy for participants also taking tumor necrosis factor inhibitors (TNFis) for a broad range of inflammatory disorders. These finding suggest that a live virus vaccine in immunosuppressed patients receiving biologic therapies may be a reasonable option, especially for the zoster vaccine, if no alternative vaccine is available. The findings are published in Annals of Internal Medicine.Link naar het originele artikel
  1. Laad meer activiteit
  • Maak Nieuw...

Belangrijke Informatie

Wij willen cookies op uw apparaat plaatsen, welke ervoor zorgen dat dit forum beter functioneert. U kunt uw cookie instellingen aanpassen, anders gaan wij ervan uit dat u ermee instemt om door te gaan.