I am sitting in a favorite restaurant with the three great loves of my life: my wife and two sons. It is Valentine’s Day, and the place is packed and loud. But the noise fades into the background as I find myself captivated by the conversation at our table. We…

Two weekends ago, my husband, Jared, had a lengthy bleeding episode. It happened after a fun Father’s Day trip to the zoo with our baby girl, Cittie, and our nanny. We had a wonderful time filled with several firsts since pandemic lockdowns eased, including our first time out of the…

Usually, as the year comes to a close, we turn our attention to resolutions. It’s often a reflective time, when the prior year’s events and actions come under scrutiny. The most common resolution usually has something to do with health and fitness. But 2020 is far and away a different…

Many years ago, friends told me about a workshop they attended, which addressed newly diagnosed patients with bleeding disorders. As they talked about the class, I agreed with everything I heard until one of the facilitators said that with a new diagnosis comes a sense of mourning. “Yes,” I…

I recently took a photo of my husband, Jared, looking after our daughter, Cittie. They were both snuggled up on a foam mattress laid out in front of the television. It was a sweet photo, but their perfect smiles and adorable cuddles obscured a dark reality: At the time, Jared…

Families who live with chronic illness have quickly learned to place trust in medical teams to determine the best course of action. If doctors and nurses suggest we quarantine, we may not like it, but we follow the guidelines, believing that the prescribed course of action will deliver the…

I will never forget the years when my youngest son lived in the hospital more than he did at home. The stress that we felt as a family threatened to break us and wear us down. Date nights with my wife gave way to tending to emergency medical…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare disease…

Splash! A kid’s plastic drinking cup falls to the floor, spilling water all over. “Oh, no!” a toddler exclaims, noticing the accident. She picks up a rag and runs it over the wet spot on the ground. “Wipe,” she says. This is a common scenario in our house these days now…

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…