Where do you go to find support and information about Huntington’s disease (HD) when you need it most? This question will certainly receive a plethora of answers. Having been part of the Huntington’s community for 25 years, I’ve utilized many different options based on my needs. In today’s world of…
Several days ago, my wife, Jill, and I got a call from our daughter, Alexus. She wanted us to know she was getting two new cats. Alexus and her boyfriend just moved into a new home with the two cats she already owns. Because my wife and daughter…
A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…
The interaction between FAN1 and MLH1 — two DNA repair proteins known to be genetic modifiers of Huntington’s disease — protects against further expansion of disease-causing CAG repeats, according to a study using human and mouse models of the disease. Specifically, this interaction prevents MLH1’s recruitment to a DNA…
Earlier this year, I wrote that I was dealing with attention deficit hyperactivity disorder (ADHD), but didn’t realize it until my wife, Jill, pointed it out to me. Today, with her permission, I’m turning the spotlight on her. My wife has always admitted that she suffers from ADHD,…
Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…
The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…
In late July, before my nephew, Dylan, moved to the Georgian capital of Tbilisi, in the Caucasus region, for several months, I played several songs for him while we were in his car. One of them was a live version of “Fragile” by Sting. I know Dylan’s taste…
Getting a new treatment to people with rare conditions like Huntington’s disease is difficult. It takes lots of intelligence about a specific topic and immense time and energy. It requires funding to fuel the time and energy of those intelligent people. It depends upon a correct hypothesis that is executed…
The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…
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