Gail Campbell Woolley (1957-2015) grew up in Washington DC, and was diagnosed with sickle cell anemia at age seven. Her book, Soar: A Memoir, published posthumously by her husband, details her heroic defiance against sickle cell disease.

Prader-Willi syndrome (PWS) is a genetic condition that affects growth and development. In this article, genetic counselor Elizabeth Kearney answers common questions for individuals with Prader-Willi Syndrome and their caregivers.

Nephcure Kidney International's mission is to accelerate research for effective treatments for rare forms of Nephrotic Syndrome, and to provide education and support that will improve the lives of those affected by these protein-spilling kidney diseases. NephCure addresses both individual and over-arching community needs for those with kidney disease.

Alport Syndrome Foundation is the leading patient-led, independent, nonprofit organization in the United States serving and giving a voice to the Alport syndrome community. ASF’s mission is to improve the lives of patients through education, empowerment, advocacy, and investment in research.

This curated collection by a mom to a child with rare disease can serve as both strength and guidance while navigating rare disease and its tribulations.

When I first started expressing concern about Alden’s development, everyone told me not to compare Alden to his big sister, Hadley. I was not comparing. As a mother and a nurse, I knew in my gut that something was seriously wrong. After weeks of second guessing my instincts, I finally caught one of Alden’s atypical movements on video. It was Memorial Day, 2020. He was 4.5 months old. I sent the video to the on-call doctor at his PCP office, who took one look at it and asked us to please bring him into the emergency room immediately. Forty eight hours, an EEG and an MRI later, our family was forever changed.

Coping with rare genetic disease is a journey. Along the way, questions may arise about inheritance and genetic testing. Genetic counselors are specially trained healthcare professionals who can provide personalized advice and support.

As a member of the rare community, you may know something about the process a new medication must go through before it receives FDA approval. Clinical trial phases 1 through 3 are conducted to establish the safety, effectiveness, and optimal dosage of a new treatment before it is made available to the public. But did you know that some drugs undergo an additional step post-approval to track their performance in the real world? These post-marketing studies, called phase 4 studies, help manufacturers learn more about long-term benefits and risks and offer a number of benefits to study participants.

When it comes to mental health, rare disease can put you on shaky ground. You’ve likely faced years of uncertainty just waiting for a diagnosis. Not knowing what is wrong or what to expect in the future is scary and unsettling. Because little is known about many rare diseases, there may be no one to turn to for answers. No wonder stress is the main culprit affecting mental health for people with rare diseases.

How do you go about finding an expert who understands your rare disease and can answer your questions? Where can you find more information on your condition to share with the specialist(s) helping with your care? Unlike most diseases, in rare disease, the doctors conducting the clinical trials are usually the leading experts on that rare disease. This is because there may be so little information available on a particular rare condition that anyone studying it becomes a top expert almost by default.

Here are some recommendations from people who have learned how to find the experts and information they need.

The IGA Nephropathy Foundation is a nonprofit dedicated to the eradication of IgA nephropathy (IgAN), an autoimmune disease that attacks the kidneys.

The Rare Advocacy Movement (RAM) is a rare disease community leadership network focused on addressing issues that affect the real-world people of the global rare disease community.

Next to a focus on self-care, social support may be the most important factor in successful long-term coping with ambiguous loss (AL)—a sense of loss characterized by uncertainty about the loss of a loved one and/or the life we once knew.

7 tips for finding the right clinical trial for you and how Know Rare makes it easier to find a clinical study and talk to a researcher.

The RDDC was established at a pivotal time, as the United States continues to grapple with the impact of the COVID-19 pandemic and the glaringly evident racial disparities that exist regarding infection rates, treatment, and access to care.

בכל ינואר, סן פרנסיסקו מארחת מפגש ייחודי של גורמים משפיעים. כנס JP Morgan Health Care השנתי, המוכרז כסימפוזיון ההשקעות הגדול והאינפורמטיבי ביותר בעולם בתחום הבריאות, מושך אליו שילוב ייחודי של אנשי מקצוע מתחום הבריאות, מגזר הטכנולוגיה והפיננסים. הרקע שלהם אולי שונה, אך הם מתאחדים יחד עם מטרה משותפת: לחקור את המגמות וכוחות השוק שיעצבו את שירותי הבריאות בשנים הבאות.

בכל שנה, חוקרים מציגים את הממצאים האחרונים בכנס השנתי של ASH בדצמבר. להלן מספר עדכונים קצרים הממחישים את הדרכים בהן חברי ASH פועלים לקידום ההבנה והטיפול במחלות דם, אשר הוצגו לאחרונה בכנס השנתי בדצמבר.

For many, “experimental” is what may come to mind when hearing about a clinical trial, which makes the prospect scary. However, for someone who has a rare disease without a treatment, the course ahead may already be filled with so many unknowns. Participating in a clinical trial can offer the opportunity to get access to care with doctors who are likely experts in the studied disease. But the key is, do not be afraid to ask.

Adaptive clothing is clothing created to solve problems. Makers of adaptive clothing specialize in apparel, footwear, and accessories designed to make life easier for those with mobility issues and other special health needs. All aim to improve comfort and accessibility, promote independence and dignity, and make wearers look good and feel good.