Jessica Fabre’s Post

Young people with rare diseases are living longer than ever, which is fantastic! However, moving from pediatric to adult care can be tough for families. Smooth transitions happen when pediatric and adult doctors work together. Here are some tips to keep in mind: 💜Start the transition process early; it's a multi-year journey, not a one-time event. 🧡Teens, caregivers, and doctors should plan the transition together. 💚Avoid transitioning during a medical crisis. With good planning families can make this important transition as smooth as possible! 💪 (Source: Raredisease.net) #TANGO2ResearchFoundation #TANGO2Disease #RareDiseaseCommunity #TANGO2Parent #TANGO2Warrior

**Exciting times in critical care! Diagnostics are advancing, but what if we could focus on insuring function disability? By shifting to functional diagnosis, we can identify patients at risk of complications before they happen. This allows for targeted preventative care benefits, minimizing complications and improving patient long term outcomes. Thanks to Dr. Kent Chong for the insights. Let's discuss how we can leverage advancements in diagnostics to achieve functional diagnosis and optimize critical care! #criticalcare #healthcare #prevention #diagnostics** #swissre #DrKentChong

Whoever came up with the expression “Not all heroes wear capes” probably had a caregiver in mind. Caring for someone with a rare disease comes with a maelstrom of challenges, often requiring a multifaceted approach that addresses medical, emotional, and practical needs. This webinar aims to provide caregivers with valuable knowledge and strategies to navigate the complexities of caregiving in the context of rare diseases, empowering them to provide effective support while maintaining their own well-being. The panel will bring together caregivers, scientists, and policy experts who will share insights and practical advice based on both research and personal victories. Attendees will gain a deeper understanding of the challenges faced by caregivers and learn practical strategies to enhance their caregiving skills and resilience. In this webinar, participants will: •Explore the unique challenges of caregiving in rare disease •Learn practical caregiving strategies and how to access resources •Hear about approaches that work to foster resilience and self-care among caregivers. Register Today! https://brnw.ch/21wL5lk #Webinar

[AES Recap] Angelman syndrome and SYNGAP1 exhibit overlapping symptoms, yet the frequency of each symptom sets the conditions apart. Our third poster aimed to delineate these symptoms to improve disorder comprehension and understanding of the impacts on patient care as viewed by providers and caregivers. Leveraging healthcare claims data and caregiver-reported surveys, we found that caregiver-reported symptom frequencies were significantly higher than those found in claims data, likely illustrating a more complete picture of the constellation of symptoms than claims data, which tends to see only a handful of the most active symptoms. Emphasizing symptom reporting is pivotal for earlier diagnosis and better support for patients and caregivers along their diagnostic journey. Thank you to our partners at the Children's Hospital of Philadelphia and the University of California, San Francisco for this collaboration! #AES #AES2023 #syngap1 #angelmansyndrome #epilepsy #childhoodseizsuredisorders

"Failure to thrive" - a harmful medical label that's overstayed its welcome. This eye-opening article explores how this outdated term can lead to misdiagnosis and delayed care for both infants and older adults. Learn why doctors are calling for change and how it impacts patient outcomes. A must-read for healthcare professionals and advocates! #HealthcareReform #PatientCare #MedicalTerminology #GeriatricMedicine #ElderCare #HealthyAging

"Failure to thrive" - a harmful medical label that's overstayed its welcome. This eye-opening article explores how this outdated term can lead to misdiagnosis and delayed care for both infants and older adults. Learn why doctors are calling for change and how it impacts patient outcomes. A must-read for healthcare professionals and advocates! #HealthcareReform #PatientCare #MedicalTerminology #GeriatricMedicine #ElderCare #HealthyAging

"Failure to thrive" - a harmful medical label that's overstayed its welcome. This eye-opening article explores how this outdated term can lead to misdiagnosis and delayed care for both infants and older adults. Learn why doctors are calling for change and how it impacts patient outcomes. A must-read for healthcare professionals and advocates! #HealthcareReform #PatientCare #MedicalTerminology #GeriatricMedicine #ElderCare #HealthyAging

In my professional experience, diagnosing scoliosis effectively hinges on timely detection followed by prompt intervention. Utilizing x-rays complemented by posture evaluations offers a comprehensive approach. Emphasizing early diagnosis is crucial, yet it's the subsequent early treatment that truly alters scoliosis progression, particularly in growing children. This insight underscores the importance of a proactive stance in healthcare, ensuring better outcomes for patients. #ScoliosisDiagnosis #HealthcareInnovation #EarlyIntervention #ChildHealth #MedicalExpertise #HealthAwareness #GrowthMonitoring #PatientCare #ProfessionalInsight #HealthcareStrategies

Did you know that up to 30% of patients on antipsychotic medications may develop Tardive Dyskinesia (TD) over time? Let's raise awareness and understanding of this condition during TD Awareness Week. Together, we can make a positive impact in patient care. #TardiveDyskinesia #Awareness #MentalHealth