AdvocacyRSSYesterday
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.
AdvocacyRSS3 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.
AdvocacyRSS3 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.
AdvocacyRSS3 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.
AdvocacyRSS3 days ago
Three organizations that work with facioscapulohumeral muscular dystrophy (FSHD) patients are joining together to make clinical trials better. FSHD is a rare muscle disease that causes weakness in the face, shoulders, and upper arms. This partnership wants to improve how these trials are designed so they can test new treatments more effectively.
WHY IT MATTERSBetter-designed clinical trials mean faster progress toward treatments for FSHD, and patient input through the FSHD Society ensures trials are structured in ways that actually work for people living with the disease.
PolicyRSS3 days ago
Doctors are now recommending that all ALS patients get genetic testing to understand if their disease is inherited. A genetic counselor is a specialist who helps explain what these test results mean and how they might affect family members. Understanding your genetic information can help you and your doctor make better decisions about your care and family planning.
WHY IT MATTERSIf you have ALS, genetic testing and counseling can reveal whether your condition is hereditary, which affects whether your relatives should be screened and what treatment options might work best for you.
AdvocacyRSS3 days ago
Delphine Andrews, a life coach and disability advocate from North Carolina who lives with SMA (spinal muscular atrophy), shared her personal story in a podcast interview. She discussed how she learned to accept herself, help others with disabilities, and build a career as a life coach. The episode also covered important topics like managing caregivers and understanding how different parts of someone's identity intersect.
WHY IT MATTERSHearing from someone living with SMA about practical strategies for self-acceptance, caregiver management, and career transition can help newly diagnosed patients and families navigate similar challenges in their own lives.
PolicyRSS5 days ago
The FDA announced it has completed its first year of goals to reduce the use of animals in drug testing. The agency launched several new programs to replace animal testing with alternative methods that are often faster and more accurate. This shift means new medicines can be developed and tested in ways that don't require testing on animals.
WHY IT MATTERSFaster, more reliable drug testing methods could accelerate the development and approval of treatments for rare diseases, potentially bringing new therapies to patients years sooner than traditional animal testing timelines allow.
PolicyRSSApr 13
The FDA sent reminders to over 2,200 companies and research groups telling them they must share their clinical trial results on a public website called ClinicalTrials.gov. This is a requirement, not optional. The FDA is making sure that information about how medical treatments work—whether they help patients or cause problems—gets shared publicly so everyone can see the results.
WHY IT MATTERSWhen companies hide negative trial results, patients may not know the full picture about whether a treatment actually works, which could affect decisions about whether to participate in a trial or use a medication.