Hello Rare Diseases Community We mark #FabryAwarenessMonth in April, an important milestone for the Fabry community. For those unfamiliar with the condition, Fabry is a rare disease that can impact many parts of the body including the kidneys, heart, brain and skin. At Sanofi, we believe in the power of knowledge, compassion, and collective action to make a meaningful impact on rare diseases like Fabry. Part of our mission is rooted in pursuing better care through early diagnosis, which plays a crucial role in managing Fabry disease, particularly in women. Women with Fabry may present with variable symptoms, leading to delays in treatment or misdiagnoses. By continuing to research Fabry disease and raising awareness among healthcare providers, we can facilitate early detection and access to suitable care. One such way we contribute to advancing understanding is through our Fabry Registry. Established in 2001, this registry tracks patient journeys, offering valuable insights into the disease's impact over time and its link to sex and genetics. Hear more about the diagnosis journey of the women in the Hill family in this video. Help us to spread awareness, ignite conversations, and amplify the impact of Fabry disease this month. Make sure to follow along on Sanofi’s corporate channels to learn more about how to get involved.
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Rare Disease Day 2024 Rare Disease Day 2024 marks a global initiative driven by patients to address inequity, healthcare access issues, and diagnostic challenges faced by the 300 million individuals worldwide living with rare diseases. Led by EURORDIS-Rare Diseases Europe and backed by over 65 national patient organizations, Rare Disease Day advocates for patients and rare disease causes across local, national, and global platforms. Syreon Research Institute is a member of consortiums in EU-funded clinical trials on rare tumours, providing expertise in health economic modelling and dissemination, among other responsibilities. The STREXIT 2 Project aims to improve disease control and the survival of patients burdened by retroperitoneal sarcoma, an exceptionally uncommon tumour posing significant treatment and diagnostic challenges. The LEGATO Project will assess whether the addition of reirradiation treatment to lomustine chemotherapy has superior efficacy as compared to lomustine chemotherapy alone for the treatment of patients with recurrent glioblastoma. Find out more about the STREXIT 2 Project here: https://strexit-horizon.eu Find out more about the LEGATO Project here: https://legato-horizon.eu/ #RareDiseaseDay #LEGATO_Horizon #STREXIT2_Horizon #HorizonEurope #EUCancerMission #ClinicalTrials
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Don’t Miss the NACE Webcast: Eosinophilic Esophagitis: Recognizing and Managing an Emerging Disease. Eosinophilic esophagitis (EoE) is a chronic, progressive inflammatory disease affecting people of all ages; a dominant cause of dysphagia worldwide; and the leading cause of food impaction requiring emergency intervention. Recognized as a clinical entity just 30 years ago, EoE is rapidly increasing in incidence and prevalence. In the past decade, significant advances in research have identified the pathologic mechanisms that trigger EoE, including the key role of cytokines as drivers of type 2 inflammation. These findings have opened the door to a new generation of therapies targeting the cellular and molecular pathways of disease. In this webcast, recorded from NACE’s 2023 Emerging Challenges and Clinical Updates in Primary Care, Dr. Paul Feuerstadt discusses the pathophysiologic mechanisms of EoE, clinical presentations of EoE, and managing EoE using current and emerging therapies. This recording is being used with the permission of the presenters. Click here to start the course: https://bit.ly/47V6HtU
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We are excited to invite you to the Satellite Symposiums held during the IFPA Conference 2024 in Stockholm, Sweden. This year’s symposiums promise to be both informative and engaging, featuring a robust agenda that addresses a wide range of topics in the field of psoriatic disease and psoriatic arthritis. The symposiums will cover: - The potential in psoriatic disease: early intervention for long-term outcomes. - From diagnosis to treatment: Rethinking psoriasis care to better meet patients’ needs. - Seeing the complete picture: Recognizing the need for continuous patient care in GPP. - Exploring the patients’ path: how can we raise the standard of care in psoriatic disease? - New People-Centric Approach On Psoriasis Management. - Tackling Challenging Issues in Psoriasis and Psoriatic Arthritis. - Commit to clear: Why earlier intervention to clear skin matters for people with psoriatic disease. Explore detailed Satellite Symposiums schedule on our website: https://lnkd.in/dCSdtj93 #IFPAConference2024
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Sometimes I get asked why do I “do” rare disease. In my role as a scientist with more than 27 years of experience in drug development, I’ve seen firsthand that the road to bringing innovation to patients can be a challenging one. But however challenging it may be from my side, it’s so much more challenging for the people living with these diseases. Imagine that not only are you living with a life-impacting disease or condition, but it’s a rare or ultra-rare one. What would that mean for you? It means it will probably take a long time to get a diagnosis. It means that even if you do get diagnosed, your treatment options are likely to be few, or even non-existent. It means you, or your caregivers, will have to be especially persistent and engaged to get the care you need. And it means you will have to rely on the persistence and passion of researchers to develop crucial breakthroughs. I “do” rare disease because the rare disease community deserves not just empathy, but also action. More innovative medicines are needed to address the pressing unmet needs of people living with rare diseases. This journey is difficult and uncertain, but it is, without a doubt, the fairest path to follow. Progress in this area requires incentives, whether economic, regulatory, or legal, to encourage innovation and collaboration among all stakeholders in the healthcare system. I recently had the honor of presenting at the European Health Forum Gastein to raise awareness about the challenges inherent in developing medicines for rare diseases. It was great to shine a light on some of the intricacies of bringing innovation to people living with these devastating diseases. https://lnkd.in/eGGiqRRC
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Every May, the cystic fibrosis community comes together for CF Awareness Month. The theme of this year’s CF Awareness Month is, “Unity in Community.” During CF Awareness Month, the community comes together to help others learn about the disease, share personal stories, and unite behind our mission: finding a cure for all people with CF. According to the Cystic Fibrosis Foundation, nearly 40,000 people in the United States have cystic fibrosis, a rare genetic disease. Approximately 1,000 new cases of cystic fibrosis are diagnosed each year. CF can affect people of every racial and ethnic group. Today, because of improved medical treatments and care, more than half of people with cystic fibrosis are 18 and older. Vist www.cff.org to learn more. Cystic fibrosis (CF) is an inherited disease and the top cause of EPI (Exocrine Pancreatic Insufficiency) in infants and children. Approximately 66% of CF patients develop EPI shortly after birth and this number jumps to 85% by one year of age. People with EPI lack the digestive enzymes needed to properly digest food. VIVUS is committed to building awareness of EPI and providing treatment options to help patients manage this lifelong condition. Please visit VIVUS.com to learn more. #CFAwarenessMonth #treatingEPI #ExocrinePancreaticInsufficiency #vivusllc
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This Autoimmune Awareness Month, we’re raising awareness about the fight against autoimmune diseases. Raising awareness is crucial. It leads to advancements in research, earlier diagnoses, and stronger community support. Join us in this vital conversation to enhance understanding, drive research, and foster hope for those affected by autoimmune diseases. With over 100 known conditions affecting millions, these diseases represent a growing health challenge that demands our attention and action. At LoopLab, our mission transcends conventional treatment for autoimmune diseases. We're developing innovative therapeutics designed to correct the underlying biological imbalances that cause disease. Our approach aims to transform human cells into precise nanofactories for tuneable therapeutic impact directly where they're needed most. Our focus is on addressing the needs of those affected by autoimmune diseases, particularly those conditions that are currently underserved by existing therapies. #AutoimmuneAwarenessMonth #livingwithautoimmunedisease #AutoimmuneAwareness
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Consumer Advocacy | Product Development and Mgmt | Program Implementation and Mgmt
Insightful information from Dr. Blitz. Knowledge is empowering.
Developmental Pediatrician and Senior Medical Director, Special Needs Initiative of UnitedHealthcare
Blitz Blog – This week is Rare Disease Week Welcome back to the Blitz Blog. Today, we have a guest writer – Debra Hanley, one of our fabulous UHC Special Needs Family Engagement Center (FEC)’s Care Advisors. Please read on to learn more about Rare Disease Week from Debra. Many of our UHC members served by the FEC are affected by a rare disease. Rare Disease Week, held on the last week of February each year, is the lead into World Rare Disease Day (February 29th). It is an annual observance to raise awareness for 300 million people affected by rare disease globally. February was picked for this observance because it is the rarest among months – it is the only month that does not have 30 or 31 days. In most years, World Rare Disease Day falls on February 28th, but this year, a Leap Year, it is on February 29th. It’s extra rare. The #ICareAboutRare campaign features a picture of a zebra. Why the zebra? “When you hear the sound of hooves, think horses, not zebras.” This phrase is taught to medical students throughout their training. In medicine, the term “zebra” is used in reference to a rare disease or condition. Doctors are taught to assume that the simplest explanation is usually correct to avoid patients being misdiagnosed with rare illnesses. Doctors learn to expect common conditions. But many medical professionals seem to forget that “zebras” DO exist and so getting a diagnosis and treatment can be more difficult for sufferers of rare conditions. Rare Disease Facts: RARE Disease Facts - Global Genes https://lnkd.in/g-DUiAHQ For more information: - Sometimes It’s a Zebra — Rare Genomics Institute - Resources Archive - National Organization for Rare Disorders (rarediseases.org) - Rare Disease Day 2024 - Join Us On February 29 | NORD (rarediseases.org) - Rare Diseases Deserve Our Attention (nichq.org) - Rare Disease Day 2024 - https://lnkd.in/gZCf6eTv - https://globalgenes.org/ Happy reading and learning! #RareDiseaseWeek #WorldRareDiseaseDay #ICareAboutRare
NORD Rare Diseases – National Organization for Rare Disorders
https://rarediseases.org
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With Rare Disease Awareness week around the corner, let's talk about why at Cisiv Ltd, we pride ourselves in the many rare disease studies we have conducted and helped contribute awareness to. In most healthcare systems worldwide, specialised care is readily available for common medical issues. For instance, a knee injury prompts a visit to an orthopaedists specialising in knee ailments, while cancer diagnosis leads to consultation with an oncologist specialising in the specific type of cancer detected. However, when it comes to rare diseases, the landscape changes drastically. Unlike common ailments, rare diseases lack specialised care. Patients navigating rare conditions find themselves consulting a series of doctors who are often unfamiliar with their specific condition. These medical professionals typically offer standard treatments, occasionally resorting to innovative approaches to alleviate symptoms such as pain and discomfort. Unfortunately, these treatments often overlook the intricacies and nuances of the rare disease in question. This is why we conduct and advocate for real-world studies, as this enhances our understanding of rare diseases by offering insights into the safety and effectiveness of treatments in real-world settings. This ultimately strengthens the case for approving and funding treatments for rare diseases. Check out our latest post below highlighting just some of the few reasons we we should all be rare disease advocates. Stay tuned in the coming weeks for more exclusive rare disease content! #raredisease #rarediseaseawareness #realworldevidence
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Don’t Miss the NACE Webcast: Eosinophilic Esophagitis: Recognizing and Managing an Emerging Disease! Eosinophilic esophagitis (EoE) is a chronic, progressive inflammatory disease affecting people of all ages; a dominant cause of dysphagia worldwide; and the leading cause of food impaction requiring emergency intervention. Recognized as a clinical entity just 30 years ago, EoE is rapidly increasing in incidence and prevalence. In the past decade, significant advances in research have identified the pathologic mechanisms that trigger EoE, including the key role of cytokines as drivers of type 2 inflammation. These findings have opened the door to a new generation of therapies targeting the cellular and molecular pathways of disease. In this webcast, recorded from NACE’s 2023 Emerging Challenges and Clinical Updates in Primary Care, Dr. Paul Feuerstadt discusses the pathophysiologic mechanisms of EoE, clinical presentations of EoE, and managing EoE using current and emerging therapies. This recording is being used with the permission of the presenters. Click here to start the webcast now: https://bit.ly/47V6HtU
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