Years ago, I watched my youngest son, “MacDonald the Younger,” as he struggled with recurring joint bleeds. Each episode took more of his mobility away. He could not extend his leg beyond 45 degrees because his knee was so full of blood, and he used a wheelchair for at least…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Reports of translucent particles of being detected in Hemlibra (emicizumab) in 2019 do not pose a safety risk or affect the therapy’s effectiveness and, according to Roche, health authorities have agreed that the treatment’s benefit/risk profile remains unchanged. Yet, the company is proposing the use of a…

As I pen this column, my husband, Jared, and I are celebrating a full year of marriage. It’s been a blissful one, with so many milestones reached and memorable moments experienced. Our baby, Cittie, was born six months ago, and since then, life has been tremendously different — in an…

The start of a new year often brings talk of ambitious goals, including growth, progress, and milestones we hope to achieve by year’s end. My husband, Jared, and I have those goals. In fact, we’re approaching 2026 with a specific list of things we want to build, maintain, and improve…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

Creating an online dating profile can be an ominous task. At least it is for me. I’m always worried about how to present myself and what I should say. How do I ensure that others will see me for who I really am — someone who’s active, fun, loving, relatively…

Many young people enter adulthood with dreams and goals in mind. The burning desire to attain these goals drives them to carry on through hardships and challenges. But for people with chronic illness, achieving goals can be harder, as they may face more obstacles related to their condition. It may…

“I wish your ab would be better now,” I tell my husband Jared in a pleading voice. Jared is recovering from a bleed in the abdominal region that has taken a toll on his mobility for the past week. He’s already gone through a couple of factor infusions but still…