Columns

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

In honor of Valentine’s Day last year, I wrote my wife a love letter. I’ve decided this will be a tradition, so following is another one. Dear Jill, Last February, COVID-19 was on the cusp of steamrolling the world. Little did we know that in March, you would become…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Late last year, my wife, Jill, and I challenged ourselves to a 21-day negativity detox. With so much gloom and cynicism in the world, we decided to work on being positive. Jill has Huntington’s disease, and stress makes her symptoms worse. We kept track by placing a dollar…

There is a robust pipeline of potential therapies for Huntington’s disease (HD), which I’ve discussed in previous columns. All of the current and future clinical trials provide real hope for this community. However, people typically aren’t allowed to participate in two clinical trials at the same time, and…

One positive thing about having a Cuban mother is eating Cuban food. My mom is an excellent cook and, during my childhood, eating traditional Cuban meals — ropa vieja, tostones, picadillo, and rice and beans — was a major highlight. One negative as a child was dealing with her…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Last November, I joined a club. I share this news with the same spirit that Groucho Marx once wrote his resignation letter to the Friar’s Club: “I don’t want to belong to any club that would accept me as one of its members.” I’m referring to the COVID-19 club.

U.K. Rare Diseases Framework, a government-led approach to raising national awareness of rare disorders, accelerating  diagnoses, and improving patient care and treatment, is now in practice. This  framework, signed by all four countries take make up the U.K. — England, Scotland, Wales and Northern Ireland — builds on the success…

I’ve lost two moms in my lifetime. My biological mom, Debbie, who was with me for the first 23 years of my life, passed away in 2011 after a 15-year battle with Huntington’s disease (HD). When she was diagnosed, we learned about the progression that inevitably would lead to…