National Organization for Rare Disorders’ Post

🎥 𝐄𝐱𝐜𝐢𝐭𝐢𝐧𝐠 𝐧𝐞𝐰𝐬! Join us for the 𝐯𝐢𝐝𝐞𝐨 𝐢𝐧𝐭𝐞𝐫𝐯𝐢𝐞𝐰 with Chair Professor Dieter Wolke and Vice Chair Dr Britta Hüning of the Topic Expert Group on “𝐅𝐨𝐥𝐥𝐨𝐰-𝐮𝐩 𝐚𝐧𝐝 𝐜𝐨𝐧𝐭𝐢𝐧𝐮𝐢𝐧𝐠 𝐜𝐚𝐫𝐞” of the #ESCNH! 🩺 Discover why European-wide reference standards are crucial in identifying and providing 𝐢𝐧𝐝𝐢𝐯𝐢𝐝𝐮𝐚𝐥𝐢𝐬𝐞𝐝, 𝐜𝐚𝐫𝐞𝐟𝐮𝐥𝐥𝐲 𝐭𝐚𝐢𝐥𝐨𝐫𝐞𝐝 𝐜𝐚𝐫𝐞 for those children who may face health and development challenges due to being born preterm. Learn how the standards in “Follow-up and continuing care” not only offer guidance but also provide invaluable feedback to medical staff, ensuring 𝐭𝐫𝐞𝐚𝐭𝐦𝐞𝐧𝐭 𝐞𝐟𝐟𝐢𝐜𝐚𝐜𝐲. Early diagnosis and intervention can significantly 𝐢𝐦𝐩𝐫𝐨𝐯𝐞 𝐨𝐮𝐭𝐜𝐨𝐦𝐞𝐬 𝐟𝐨𝐫 𝐩𝐫𝐞𝐭𝐞𝐫𝐦 𝐢𝐧𝐟𝐚𝐧𝐭𝐬, while continuous care addresses challenges that may arise in later years. #ForTheBestStartInLife #NewbornHealth

Early detection through #NewbornScreening (NBS) can change lives. Current Recommended Uniform Screening Panels (RUSP) vary by state, creating different outcomes based on location.    Dr. Wasserstein details watching her first newborn with #Phenylketonuria (PKU) grow up and graduate medical school thanks to the early intervention from #NewbornScreening.     Learn more about the life-saving potential of newborn screening and the urgent need to modernize the NBS system to address #equity challenges: https://lnkd.in/eRBwCnru

U.S. National Maternal and Child Oral Health Resource Center spotlights 5 programs focused on integrating oral health care into primary care serving the maternal and child health population. Spotlights include a program overview; a description of the program’s inception and early years; information about funding, notable strengths, notable evaluation activities, and evaluation methodology; select evaluation findings; and resources to learn more about evaluation. The report also describes key elements for program success and challenges common across all programs that support or limit program success. Cavity Free at Three (Colorado) Colorado Medical Dental Integration Project (Colorado) From the First Tooth (Maine) I-Smile and Cavity Free Iowa (Iowa) Into the Mouths of Babes (North Carolina) Source: https://lnkd.in/gR-Z5rUT

Attending this conference today, run by the National Health Executive. Really interesting hearing all the speakers discuss the current state of the NHS backlog and what can be done to tackle it. #nhs #backlog #waitinglists #diagnostics #digitalinnovation #transformation #healthcareleadership #workforce #patientsafety

In observance of #MaternalHealthAwareness Day, we share this article published in the Annals of Family Medicine. In it, Clinical Futures' experts, including Dr. Emily Gregory and her colleagues, raise awareness of healthcare opportunities to improve birth experiences among Black birthing people: https://bit.ly/3Ob1ZR5.

Access to medicine shouldn’t depend on your zip code, but for many rural Texans, it does. Texas A&M Medicine is tackling this issue with innovative strategies designed to bring quality care to underserved areas. Through partnerships and a deep connection to local communities, Aggie leaders are creating lasting change, ensuring that all Texans have access to the care they deserve. Discover how Texas A&M is paving the way for healthier, more connected communities across the state. Read the Article: Rural Roads to Better Health by Dorian Martin '06 https://ow.ly/2G6550TGcFJ

I learned that the first randomized clinical trial was considered to begin on May 20, 1747. A 12-person study that focused on the Scurvy disease affecting sailors. Today is International Clinical Trials Day to commemorate! 🙌 👏 It's a great opportunity to pause and reflect on the MANY participants and clinical research professionals who have contributed to exploring new treatments in medicine - with the goal of improving human health. 💙 💙 IQVIA #ClinicalTrialsDay #clinicaltrials #humanhealth #WeAreIQVIA

🔍 Diving deep into the intricacies of Progression Independent of Relapse Activity (#PIRA) in Multiple Sclerosis (#MS). This session by Prof. Carmen Tur illuminated discussed the disability progression occurs despite apparent stability in the disease. 💡 By unpacking the concept of #PIRA, we challenged traditional approaches to MS management, emphasizing the critical need for a more holistic care paradigm. 👩⚕️ The evolving clinical landscape demands closer collaboration between healthcare professionals and individuals with MS, fostering patient-centered strategies that address the multifaceted nature of the disease. 🔬 Ongoing research endeavors aim to unravel complexities of PIRA, offering hope for enhanced treatment modalities and improved patient outcomes. #EMSP2024 #MultipleSclerosis #PIRA #MSResearch #PatientCare 🧠

Why Show Your Stripes®? When you “Show Your Stripes” you are helping to raise awareness and show support for millions of adults and kids in the U.S. and around the world with a rare disease or undiagnosed condition. The zebra is the official mascot for rare disease patients. Historically, medical professionals were told that when they “hear hoofbeats,” they should not expect to see a zebra. In other words, look for the more common answer, a horse. Today, we know that 1 in 10 Americans is a zebra! It’s not always obvious to recognize or diagnose a person with a rare disease (a zebra). As a result, this can cause a delay in care and often negatively impacts a person’s quality of life or life expectancy. It’s for this reason we ask our partners, individuals, groups and members of our community to “Show Your Stripes” leading up to and on Rare Disease Day and throughout the month of February and into early March. #Showyourstripes #Zebra #RareZebra #raredisease #medicalprofessionals #medicalprofessional #showsupport #awareness #striped #patients #PKU #HCU #MSUD #UCDs #maladiesrare #PCU #passirare #RareDisease #NotSoRare #1in12 #Research #CureforRare #FightForRare #Knowledge #Science #HealthCare #RareInCanada #SupportResearch #Biology #Innovation #maladiesrare

This retrospective study compared the clinical and bronchoscopic characteristics of adults and children who underwent bronchoscopy for suspected foreign body aspiration.   Learn more at https://lnkd.in/ggwpwE5Y   #visualabstract #journaleinstein #publishedineinstein #bronchoscopy #flexiblebronchoscopy #airwayobstructions #foreignbodyaspiration