Patient-reported outcome measures (PROMs) provide a missing link. They help healthcare providers understand the impact of living with a disease on terms that matter to you.
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The Penguin Plunge of Nyack was never meant to be an "annual" thing; it was just a couple of friends who wanted to put together a one-time winter plunge into icy Hudson River waters in southern Rockland County. If we were going to do something that crazy, we figured we should do it to raise funds for a good cause.
Learn about a terrible story that occurred in 1989, when a woman named Patricia Stallings was wrongly convicted for the death of her son.
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Management of chronic kidney disease is complicated by many things, such as fluid retention, anemia, and effects on multiple organs in the body. In India, where treatments can be too expensive and beyond the reach of the majority of the population, many have relied upon yoga as an alternative therapy.
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This episode of the DNA Today podcast discusses the function of the mitochondria, challenges of living with a mitochondrial condition, how primary mitochondrial myopathies (PMM) are unique, how the percentage of affected mitochondria correlates with the severity of symptoms, what Reneo doing to help diagnose more patients with PMM, and Reneo’s STRIDE study for treatment of PMM
Rare advocates, such as Nadia Bodkin, are shining a light on racial and ethnic inequities in healthcare systems. Learn how Rare Advocacy Movement (RAM), co-founded by Bodkin, and the rare disease community are fighting to make care more equitable for all.
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Learn about Mind-Body Interventions (MBI) and how they can help with FSGS symptoms.
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Discover the benefits of yoga and how it can help with FSGS symptoms, and find out how to get started with a yoga practice.
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How can we advance knowledge research for a rare disease when there are so few patients? One important way is through a patient registry. Learn more about what a patient registry is and why should people with a rare disease join one.
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A recent New York Times article discusses the inexactness of prenatal testing and how false positives about genetic markers of rare disease can cause anxiety. Read genetic counselor Elizabeth Kearney’s response, where she expertly addresses the inaccuracies and assumptions made in the article.
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Read about the importance of supporting employees who are also rare disease caregivers. Gina D. Wagner argues that employers must address their needs and implement significant changes in the workplace, and offers five ways organizations can create a balance between work and life for these caregivers.
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For people with primary mitochondrial myopathies (PMM), it is reassuring to know new studies are continuing to explore activators of PPAR delta as a possible way to stimulate mitochondrial activity, increase energy production, and improve the performance of skeletal muscle cells.
The National Alliance for Caregiving (NAC), in partnership with Global Genes, has released a new handbook that offers support, advice, and guidance for unique challenges and unique rewards of caring for a child with a rare or serious disease.
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After Laura Will’s son was diagnosed with a rare condition, she felt unsure how to talk to her kids about the diagnosis and corresponding disability. She’s found that children’s books have been a wonderful way to safely initiate conversations with her children about the difficult topics that exist within the world of rare disease. In this article she shares her list of book recommendations with the Know Rare community.
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Families affected by rare genetic disease may have questions about whether others in the family will develop the disease, particularly if they or their children are affected. Here is some advice from a genetic counselor.
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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.
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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.
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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.
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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.
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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.
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