Columns

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

One of U.S. President John F. Kennedy’s dreams was to send men to the moon and have them return safely to Earth. “We choose to go to the moon,” he told a crowd of about 40,000 people at Rice University’s football stadium in September 1962. “We choose to go…

“Dancing at the Vatican” is a 2019 documentary film created and narrated by Charles Sabine, a former television reporter and foreign correspondent. It shines a spotlight on several families from Latin America who have Huntington’s disease (HD). The film culminates with the families, who are from poor towns in…

Every day, people around the world learn more about Huntington’s disease (HD). We know so much today, but we will know more tomorrow, and this knowledge will continue to exponentially grow. Researchers, scientists, clinicians, patients, caregivers, and advocates all have knowledge to gain. If you ever think you know it…

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…