Dr. Pushpa Narayanaswami is a neurologist based in Boston, Massachusetts. At the core of her work is to help patients live each day a little better and aid them to achieve their goals of care together. Read on to discover what led her to pursue her field of study and where she sees rare disease research going in the next few years.

Patient-reported outcome measures (PROMs) help healthcare providers understand the impact of living with a disease on terms that matter to you.

Have you ever left a doctor appointment and realized you forgot to mention an important event in your health history? Having a rare disease often means you are seeing more than one doctor, and they all need to know your medical history. That means you have to remember all the symptoms and treatments you’ve had, including when they started and stopped, and how much they have affected your life.

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.

At only four years old, Jeremy Lankford already knew that he wanted to be a neurologist. Today, that dream has come true, but what makes that reality even sweeter for the now-veteran physician is that his expertise is focused on improving the lives of kids just like that young version of himself.

Dr. Mary Kay Koenig is a physician with many interests, from chemistry to neurology to children's care—but at the beginning of her medical career, she never could have guessed that mitochondrial medicine would be the specialty where all of her passions intersected.

Bob Coughlin, who today serves as an advisor to life science companies, was never one for thinking small or limiting his ambitions for rare disease patients. Learn how he and his family overcame the obstacles of cystic fibrosis (CF), raising awareness and money to search for a cure.

Dr. Chapman is a leading expert in PA and serves as the director of the mitochondrial disorders clinic at Children’s National. Learn more about Dr. Chapman’s work, and why she feels that clinical trials are a crucial pathway to rare disease therapies.

Learn about a terrible story that occurred in 1989, when a woman named Patricia Stallings was wrongly convicted for the death of her son.

Discover how humor can be an incredible tool for protecting, connecting, and emboldening caregivers in many of their dark and difficult moments.

The Organic Acidemia Association is a non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. Learn more about their patient registry, a new Metabolic balancer app, and their newborn screening resources.

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.

When Wendy White sees gaps in knowledge, she doesn’t wait for others to close them. She steps in and fills them herself. It’s this indomitable spirit and innovative problem-solving that led to her becoming a true changemaker in rare disease.

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

In our family, the love is infinite and the joy is absolute. In many ways we are like any other family; however, as we navigate this decision to have another biological child, the math is painfully different. I feel overwhelmed by uncertainty, the possibility of genetic errors, and the fragility of life.

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.

Defying the odds, Amy never thought she’d be able to have children. Her pregnancy was high-risk due to her own medical issues. However, she made it through her first trimester of pregnancy and was ready for an ultrasound at 18 weeks. Amy didn’t expect the doctors at her local hospital to tell her that her daughter would never walk or talk.

Learn about Mind-Body Interventions (MBI) and how they can help with IgAN symptoms.

Discover the benefits of yoga and how it can help with IgAN symptoms, and find out how to get started with a yoga practice.

The Genesis Foundation for Children is a non-profit organization that provides wraparound care for children born with rare diseases and genetic disorders. Learn more about their impact and the programs that they fund.