It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest thing…

When I reflect on the unexpected detours my life took when my wife, Cazandra, and I had children, I cannot help but feel gratitude for them. They led me to where I am now. The author and teacher Joseph Campbell once wrote: “We must be willing to…

Before having children, my definition of a season of life did not contain color. Everything appeared black and white. If there was a medical issue, it lasted for a little while and soon passed. Nothing remained for long. The most significant medical problem I faced was when I broke my…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

The new year is a wonderful time. To many of us, it’s a symbol of fresh hope and new beginnings. I greeted January with many dreams and the hope that they may come true. After an eventful series of moments leading up to New Year’s Eve, my husband, Jared,…

The bleeding disorder community has suffered an unimaginable loss: Barry Haarde, the founder of the “Wheels for the World” campaign, passed away over the weekend. Haarde was just 52 years old. MORE: New documentary explores what it’s like living with a bleeding disorder Barry Haarde was born with severe…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Note: This story was updated Nov. 6, 2020, to clarify key scientific concepts. The gene-editing tool CRISPR/Cas9 enables a targeted gene insertion approach that may be superior to conventional gene therapy at restoring the activity of factor IX (FIX), the blood-clotting protein missing in people with…