A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Spending more time on leisure activities — which contributes to a person’s cognitive reserve, or the ability to improvise — is associated with lesser cognitive and functional decline in people with early manifest Huntington’s disease, a study shows. In addition, a greater number of CAG repeats within the HTT gene…
Earlier this month, my wife and daughter, Jill and Alexus, respectively, participated in a panel discussion about Huntington’s disease (HD). The topic was difficult conversations. Jill and Alexus are both gene-positive for HD, but they each had different reasons for accepting the invitation to participate. Alexus said, “I love talking…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
The first two patients in Europe have been dosed in uniQure’s Phase 1/2 clinical trial investigating AMT-130, a one-time investigational gene therapy for Huntington’s disease. The trial is underway in Poland, where it is still open for enrollment, and is expected to expand to other sites in the…
For the past two years, in honor of Valentine’s Day, I have written a love letter in this space to my wife, Jill, who has Huntington’s disease. This year, instead of a Valentine’s Day letter, I’ve decided to write her a love play. It goes like this: [Carlos makes a…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
People with Huntington’s disease who have a greater sense of purpose and meaning are more likely to find contentment in life and have better health-related quality of life, regardless of the severity of most of their symptoms. That’s according to the study “Meaning and purpose in…
My daughter, Alexus, recently spent about a month with my wife, Jill, and me, and the more time she visits with us, the sadder we get when she leaves. The weekend that she left, Jill and I moped. To divert our attention, we decided to go to a movie…
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