AdvocacyRSSToday
A person recently attended the Hemophilia Federation of America's annual symposium in New Orleans and shared their positive experience meeting others in the hemophilia community. The event inspired reflection on both current progress in treating hemophilia and the difficult history the community has faced. The author expressed gratitude for being included and highlighted the importance of gathering with others who understand the challenges of living with a bleeding disorder.
WHY IT MATTERSCommunity events like the HFA Symposium provide hemophilia patients and caregivers with opportunities to connect with others, learn about new treatments, and access support networks that can improve quality of life and treatment decisions.
PolicyRSSToday
President Trump signed an executive order on April 18 directing the federal government to speed up access to treatments for serious mental illness, including conditions that are hard to treat. This means the FDA and other health agencies will work faster to get new mental health treatments to patients who need them.
WHY IT MATTERSPatients with treatment-resistant mental illness conditions may gain faster access to new therapies through streamlined FDA review processes and accelerated approval pathways.
PolicyRSSToday
A large survey in the U.K. found that most people—including families of babies screened for SMA, people living with SMA, doctors, and the general public—strongly support newborn screening for spinal muscular atrophy. The main reason people liked the idea was that catching SMA early could help babies have better health outcomes. Researchers looked at what factors influenced people's opinions about this type of screening.
WHY IT MATTERSIf newborn SMA screening becomes standard in the U.K., babies diagnosed early could start treatment sooner, potentially preventing severe muscle weakness and improving their long-term quality of life.
AdvocacyRSSToday
A caregiver shares her experience of learning to navigate life after her husband was diagnosed with ALS in 2018. She describes how she went from knowing almost nothing about the disease to becoming an active member of the ALS community. The article focuses on the emotional journey and finding support during a difficult time.
WHY IT MATTERSFor ALS caregivers and newly diagnosed patients, this personal account provides practical insights into building a support network and coping strategies during the early, overwhelming months after diagnosis.
PolicyRSSYesterday
The FDA and Medicare (CMS) created a new fast-track pathway called RAPID that helps patients get access to breakthrough medical devices more quickly. This pathway applies to certain advanced devices that treat serious conditions. The goal is to reduce the time between when a device is approved and when Medicare patients can actually use it.
WHY IT MATTERSPatients with rare diseases who rely on breakthrough medical devices may now access life-changing treatments months or years faster than through traditional Medicare coverage processes.
AdvocacyRSS2 days ago
Children with Prader-Willi Syndrome (PWS) have real character strengths and positive qualities, but the challenges of the condition can make these strengths difficult for families to notice and support. Recognizing these strengths is important for family wellbeing. However, even when caregivers understand their child's strengths, actually supporting them can be exhausting for parents and guardians who are already managing the demands of PWS.
WHY IT MATTERSFor families managing PWS, understanding that their child has genuine strengths—beyond the condition's challenges—can improve how they view their child and their own emotional wellbeing, even though caregiving remains demanding.
AdvocacyRSS2 days ago
Bruce Campbell, who has Pompe disease, is competing in the Absa Cape Epic, one of the world's toughest mountain biking races. Despite living with a rare muscle disease that affects his strength and endurance, he decided to take on this extreme athletic challenge. His story shows how people with rare diseases can push their limits and achieve goals they set for themselves.
WHY IT MATTERSThis story demonstrates that people living with Pompe disease can maintain active lifestyles and pursue challenging physical goals, which may inspire patients to discuss realistic exercise options with their care team.
AdvocacyRSS2 days ago
A patient with MS shares their personal experience of why starting treatment quickly with the most powerful available medications is worth it to them. They believe the benefits of aggressive, early treatment outweigh the potential side effects. This is one patient's perspective on MS treatment strategy.
WHY IT MATTERSThis patient perspective highlights the real-world decision-making that people with MS face when choosing between starting strong treatments early versus waiting, which can help other newly diagnosed patients think through their own treatment conversations.
AdvocacyRSS2 days ago
People with pulmonary hypertension (PH) often feel pressure to push through exhaustion and symptoms like chest pain, but this approach can actually make their condition worse. The article explains that rest and pacing activities is important for managing PH, rather than trying to power through difficult days. Ignoring your body's signals can lead to more frustration and health problems.
WHY IT MATTERSThis article addresses a critical but often overlooked aspect of PH management: understanding that rest is medical treatment, not laziness, which can help patients make better decisions about activity and reduce unnecessary symptom flare-ups.
AdvocacyRSS2 days ago
A patient with AATD (alpha-1 antitrypsin deficiency) is raising awareness that doctors aren't talking enough with their patients about air trapping—a condition where air gets stuck in the lungs and doesn't come out properly. Air trapping is a common problem for people with AATD, but many patients don't understand what it is or how to manage it. Better patient education about this issue could help people with AATD breathe better and manage their condition more effectively.
WHY IT MATTERSPatients with AATD who understand air trapping can work with their doctors to use breathing techniques and medications that specifically target this problem, potentially improving their lung function and quality of life.
AdvocacyRSS2 days ago
A patient with CIDP, a rare nerve disease that causes weakness and tingling, describes how much time the condition takes up each week—not just doctor visits, but also managing symptoms, doing physical therapy, and dealing with fatigue. The article shows that the real burden of living with CIDP goes beyond what doctors usually measure, including all the hidden time spent managing the disease day-to-day.
WHY IT MATTERSUnderstanding the time burden of CIDP helps patients feel less alone in their struggles and gives them language to explain to family, employers, and doctors why the disease affects their quality of life so much.
AdvocacyRSS2 days ago
A parent shares their experience with their son's delayed diagnosis of thymidine kinase 2 deficiency (TK2d), a rare genetic disorder affecting how the body uses certain building blocks for DNA. The article highlights how early genetic testing could have identified the condition sooner and made a significant difference in the child's care and outcomes. Early testing is important because it allows doctors to start treatment and management strategies before serious complications develop.
WHY IT MATTERSParents of children with unexplained developmental delays or muscle weakness can use this story to advocate for early genetic testing with their doctors, potentially catching TK2d before irreversible damage occurs.
AdvocacyRSS2 days ago
The PBC Foundation International Summit is a conference where people living with primary biliary cholangitis (PBC)—a rare liver disease—share their experiences and perspectives. Unlike typical medical conferences focused mainly on doctors and research, this summit puts patients' voices at the center of discussions. A woman with PBC explains what makes this event different and valuable for the community.
WHY IT MATTERSPatient-centered conferences like this one help people with PBC connect with others, learn directly from their peers' experiences, and ensure their needs shape future research and treatment discussions.
AdvocacyRSS2 days ago
This article offers practical advice for people with hereditary angioedema (HAE) who feel limited by their condition. The author encourages patients to focus on what they can do rather than what they can't, and suggests ways to live a full life while managing HAE symptoms.
WHY IT MATTERSHAE patients often experience social isolation and emotional burden from unpredictable swelling attacks; this article addresses the psychological impact and provides coping strategies to improve quality of life.
AdvocacyRSS2 days ago
A mother shares her personal story about raising two sons with hemophilia, a bleeding disorder that prevents blood from clotting properly. She describes how the condition has affected her family's life and what it means to be a caregiver for young men living with this lifelong disease. The article uses her childhood memory of wanting to do gymnastics as a contrast to the physical limitations and challenges her sons face.
WHY IT MATTERSParents and caregivers of people with hemophilia can find community and validation in hearing directly from other families navigating the same daily challenges of managing a chronic bleeding disorder.
AdvocacyRSS2 days ago
This article announces a support group meeting in Bethesda, Maryland for people with rare diseases. Support groups bring together patients and caregivers to share experiences, get information, and find emotional support from others facing similar health challenges. The meeting was scheduled for Saturday, July 17, 2027.
WHY IT MATTERSSupport groups provide patients with rare diseases a chance to connect with others who understand their condition and learn practical coping strategies from people with lived experience.
AdvocacyRSS2 days ago
A support group for people with myasthenia gravis (MG), a rare condition where the immune system attacks muscles and causes weakness, is meeting in the Pacific Northwest region covering Oregon and Washington. Support groups bring together patients and caregivers to share experiences, get information, and find emotional support from others dealing with the same condition.
WHY IT MATTERSThis support group provides a local community resource for MG patients in Oregon and Washington to connect with others managing this rare autoimmune disease and access peer support.
AdvocacyRSS2 days ago
A support group for people with myasthenia gravis (MG), a rare condition where the immune system weakens muscles, is meeting in St. Petersburg, Florida. Support groups bring together patients and caregivers to share experiences, ask questions, and learn from each other about managing their condition.
WHY IT MATTERSIf you or a loved one has myasthenia gravis in the St. Petersburg area, this support group offers a chance to connect with others facing the same challenges and access local resources.
AdvocacyRSS2 days ago
A support group for people with myasthenia gravis (MG), a rare condition where the immune system attacks muscles and causes weakness, is meeting in Northeastern Pennsylvania. Support groups bring together patients and caregivers to share experiences, get information, and find emotional support from others dealing with the same condition.
WHY IT MATTERSThis support group provides a local community resource for MG patients in Northeastern PA to connect with others, share coping strategies, and access peer support—which research shows improves quality of life and treatment adherence.
AdvocacyRSS2 days ago
This is an announcement for a support group meeting for people with myasthenia gravis (MG) in the Sacramento-Sierra region of California. The group meets on Saturday mornings and provides a space for patients and caregivers to connect with others who have the same condition. Support groups help people share experiences, get information, and feel less alone.
WHY IT MATTERSThis local support group offers Sacramento-area MG patients a chance to connect with others managing the same autoimmune condition and access peer support that can improve quality of life and disease management.