Rare disease news

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58 articles from the last 30 days matching "rare disease"

ResearchPUBMEDToday

Aging and rare diseases: from epidemiology to a call to action.

Researchers in Italy studied how rare diseases affect older adults. They found that thousands of people are diagnosed with rare diseases after age 65, and thousands more who were diagnosed as children or young adults are now living into old age with these conditions. This study shows that rare diseases in elderly people are becoming more common and important to understand.

WHY IT MATTERSIf you or a family member has a rare disease and are aging, this research highlights that healthcare systems need better plans to care for older patients with rare conditions—which could lead to improved treatment strategies and support services tailored to your needs.
Good to knowRead →
NewsRSSYesterday

Managing intense knee pain after a fall onto a concrete floor

A person with SMA (spinal muscular atrophy) experienced a serious fall onto concrete while their nurse was helping them get dressed, resulting in intense knee pain. The article discusses how this unexpected injury was a frightening experience for someone already managing a complex rare disease. The post appears to be a personal account about dealing with this new complication.

WHY IT MATTERSPeople with SMA have increased fall risk and fragility due to muscle weakness, making even routine activities like being dressed potentially dangerous — this story highlights a real safety concern for SMA patients and caregivers.
💬 Ask your doctorSpinal Muscular AtrophyRead →
ResearchPUBMED2 days ago

Circular RNA therapeutics: a new class of long-acting RNA medicines for oncology, immunology, and rare diseases.

Scientists are studying a new type of medicine made from circular RNA, which is RNA shaped like a circle instead of a line. Because of their circular shape, these medicines may stay in the body longer and work better than current RNA medicines. Researchers are testing these circular RNA medicines to treat cancer, immune system diseases, and rare diseases.

WHY IT MATTERSCircular RNA therapeutics could eventually offer longer-lasting treatments for rare diseases with fewer doses needed, but patients should know that claims about safety and effectiveness vary depending on how the medicine is made—there's no one-size-fits-all answer yet.
Good to knowRead →
NewsRSS2 days ago

Test Your Knowledge About the History of SM

This article invites people to take a quiz about the history of SM (Systemic Mastocytosis) and compare their answers with other people who took the quiz. It's a fun way to test what you know about this rare disease and learn more about it.

WHY IT MATTERSUnderstanding the history and background of systemic mastocytosis can help patients better understand their diagnosis and feel more connected to the broader SM community.
Good to knowSystemic MastocytosisRead →
AdvocacyRSS2 days ago

Riding the Absa Cape Epic With Pompe Disease: The Decision to Take on the Impossible

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.
Good to knowPompe diseaseRead →
NewsRSS2 days ago

Flying High With AATD: Finding Inspiration From a Movie

A patient with AATD (Alpha-1 Antitrypsin Deficiency) found personal inspiration by watching the movie Top Gun: Maverick, discovering parallels between the fighter pilot's perseverance and their own journey managing a chronic lung disease. The article explores how popular culture can provide emotional support and motivation for people living with rare diseases. This is a personal reflection piece rather than medical news.

WHY IT MATTERSFor AATD patients, finding relatable stories and sources of inspiration in everyday media can help combat the isolation and emotional burden of managing a progressive genetic lung disease.
Good to knowAlpha-1 Antitrypsin DeficiencyRead →
NewsRSS2 days ago

My First Symptom of NMOSD

A patient shares their experience with neuromyelitis optica spectrum disorder (NMOSD), a rare disease that affects the nerves in the spinal cord and eyes. They describe how they initially ignored their first symptom until it became so severe that both they and their doctor couldn't overlook it anymore. This personal story highlights how NMOSD symptoms can start small but need prompt medical attention.

WHY IT MATTERSUnderstanding early warning signs of NMOSD is critical because delayed diagnosis can lead to permanent nerve damage, and patients who recognize symptoms sooner may have better outcomes with early treatment.
Good to knowneuromyelitis optica spectrum disorderRead →
NewsRSS2 days ago

When Your Doctor Knows Your Story: Saying Goodbye to a Partner in My ATTR-CM Journey

A patient with ATTR-CM (a rare heart disease caused by abnormal protein buildup) is sharing their experience saying goodbye to a doctor who understood their condition deeply. When you have a rare disease, finding a doctor who takes time to learn your personal story and medical history is especially valuable. This article highlights how important that doctor-patient relationship is for people managing uncommon health conditions.

WHY IT MATTERSFor ATTR-CM patients, continuity of care with a knowledgeable physician directly impacts treatment decisions and quality of life, making transitions to new doctors particularly challenging.
Good to knowATTR-CMTransthyretin Amyloidosis with CardiomyopathyRead →
NewsRSS2 days ago

AATD on a Good Day: A Glimpse Into Life With a Rare Disease

A person who used to work as a nutrition counselor shares what it's really like to have a good day while living with AATD (alpha-1 antitrypsin deficiency). The article shows how much planning, careful decisions, and inner strength it takes to manage this rare lung disease day-to-day. Even on good days, people with AATD have to think carefully about their choices and energy levels.

WHY IT MATTERSThis firsthand account helps patients and caregivers understand that managing AATD requires constant invisible effort, which can validate their own experiences and help them feel less alone.
Good to knowAlpha-1 Antitrypsin DeficiencyRead →
NewsRSS2 days ago

AATD and the Importance of Having Fun

When you have a rare disease like Alpha-1 Antitrypsin Deficiency (AATD), taking care of your mental health is just as important as managing your physical symptoms. The article explains that doing things you enjoy—like visiting aquariums or crocheting—can help reduce stress and improve your overall well-being. Having fun and finding joy in daily activities is a key part of living well with a rare disease.

WHY IT MATTERSAATD patients often face isolation and emotional burden from their condition, so this article directly addresses how mental health support through enjoyable activities can improve quality of life alongside medical treatment.
Good to knowAlpha-1 Antitrypsin DeficiencyRead →
NewsRSS2 days ago

Test Your Knowledge About Life Expectancy in AAV

This article invites people to take a quiz about life expectancy in AAV (ANCA-associated vasculitis), a rare disease that affects blood vessels. After completing the quiz, you can see how your answers compare to other people who took it. The quiz is a way to learn more about what to expect with this condition.

WHY IT MATTERSUnderstanding life expectancy and prognosis in AAV can help patients and caregivers make informed decisions about treatment options and long-term planning.
Good to knowANCA-associated vasculitisRead →
AdvocacyRSS3 days ago

Bethesda, Maryland Support Group

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.
You can act on thisRead →
AdvocacyRSS3 days ago

Bethesda, Maryland Support Group

This article announces a support group meeting in Bethesda, Maryland for people with rare diseases. However, the article content provided does not specify which rare disease(s) the support group focuses on, when meetings occur, or how to join. To get useful information, you would need to contact the organizers directly or visit their website.

WHY IT MATTERSSupport groups connect patients with others facing the same condition, reduce isolation, and provide practical tips for managing daily life — but only if you can find the specific group that matches your disease.
Good to knowRead →
AdvocacyRSS3 days ago

Bethesda, Maryland Support Group

This article announces a support group meeting in Bethesda, Maryland for people with rare diseases. However, the article content provided does not include specific details about which rare disease(s) the group focuses on, when meetings occur, or how to join. To get helpful information, you would need to contact the organizers directly or visit their website.

WHY IT MATTERSSupport groups connect patients with others who understand their condition, provide emotional support, and share practical tips for managing daily life with a rare disease.
Good to knowRead →
AdvocacyRSS3 days ago

Bethesda, Maryland Support Group

This article announces a support group meeting in Bethesda, Maryland for people with rare diseases. However, the article content provided does not include specific details about which rare disease(s) the group focuses on, when meetings occur, or how to join. To get the most out of this resource, you would need to contact the organizers directly for more information.

WHY IT MATTERSSupport groups connect patients with others who understand their condition, reduce isolation, and provide practical tips for managing daily life — but this article lacks the specific disease focus and meeting details needed to determine if it's relevant to your situation.
Good to knowRead →
NewsRSS3 days ago

The gift of a song reminds me that my son is more than his challenges

A parent shares a personal story about receiving a song recording from their son with hemophilia, reflecting on how their child's talents and abilities extend far beyond his medical condition. The article emphasizes that people living with rare diseases like hemophilia are whole individuals with gifts and passions that deserve recognition. This piece appears in Hemophilia News Today and focuses on the emotional and human side of living with a chronic blood disorder.

WHY IT MATTERSFor parents and caregivers of children with hemophilia, this story validates the importance of seeing their child as a complete person with abilities and dreams, not just defined by their bleeding disorder diagnosis.
Good to knowhemophiliaRead →
AdvocacyRSS3 days ago

Hemophilia has taught me to pause before judging other people

This article is a personal essay from someone with hemophilia who reflects on how living with a rare disease has changed their perspective on judging others. The author uses examples from reality TV shows to discuss how society is quick to judge, but their experience with hemophilia has taught them to be more compassionate and understanding before making assumptions about people.

WHY IT MATTERSPeople with hemophilia often face misconceptions and judgment from others who don't understand their condition, so this perspective piece validates the emotional and social challenges that go beyond just managing the medical aspects of the disease.
Good to knowhemophiliaRead →
NewsRSS3 days ago

Growing up with PH meant answering a lot of questions from peers

A person with pulmonary hypertension (PH), a rare lung disease that makes it hard for the heart to pump blood through the lungs, shares what it was like growing up with this condition. They had to frequently miss school and explain their illness to classmates who asked questions about their absences. This article highlights the social and emotional challenges that young people with chronic rare diseases face alongside their medical treatment.

WHY IT MATTERSPatients with pulmonary hypertension and their families can find validation and community in peer experiences, while healthcare providers gain insight into the psychosocial impact of PH that extends beyond physical symptoms.
Good to knowPulmonary HypertensionRead →
NewsRSS3 days ago

When fate tested our theory that things happen for a reason

This is a personal story about a family who discovered they were expecting an unplanned baby in spring 1997. The parents and their 10-year-old son had to adjust to the news of a new family member on the way. The article appears to be part of a larger story about how this unexpected event connected to a rare disease.

WHY IT MATTERSThis article is from SMA News Today, suggesting it relates to spinal muscular atrophy (SMA), but the excerpt provided does not contain specific medical information, treatment details, or actionable health guidance for SMA patients.
Good to knowRead →
ResearchPUBMED3 days ago

Characteristics of Patients with Myasthenia Gravis in the French Rare Disease Registry.

Researchers in France studied a group of patients with myasthenia gravis (a rare disease where muscles become weak and tired easily) who were treated at special centers between 2007 and 2021. They collected information about these patients' backgrounds, how their disease developed, and how long they lived. This study helps doctors understand more about this disease and how to care for patients better.

WHY IT MATTERSThis registry data provides real-world evidence about myasthenia gravis outcomes and patient characteristics in France, which can help identify gaps in care and inform treatment guidelines for MG patients across Europe.
Good to knowMyasthenia GravisRead →
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