According to a story from sciencemag.org, Huntington’s disease can often feel like a curse. That’s how it felt for Michelle Dardengo as she watched the disease consume her father. At age 52, he nearly killed himself after jumping off a bridge. From then on, his clever wit was slowly replace by unpredictable behavior and alcoholism. Eventually, he had to enter a nursing home, and stayed their for over a decade before his demise.
About Huntington’s Disease
Huntington’s disease is a genetically inherited disorder that, over a period of 15 to 20 years, causes brain cells to die. The disease is caused by mutations of the HTT gene. It can occasionally appear as a new mutation but it is typically inherited from one’s parents. The disease can appear at any time, but symptoms typically appear between 30 and 50 years old. Therefore, carriers unwittingly pass the mutation on to their children; there is a fifty percent chance of having the disease from an affected parent. Symptoms of Huntington’s disease often begin as subtle mood or personality changes, followed by loss of physical coordination, random jerking movements called chorea, dystonia, sleep problems, difficulty swallowing, chewing, and speaking, impulsive behavior, and, in the later stages, dementia. To learn more about Huntington’s disease, click here.
It was only after her father’s death that Michelle decided to get tested to see if she had the mutated gene herself. Her result was positive. Her handwriting and coordination were the first things to go, and at age 52, the same age when her dad had leapt from a bridge, she had to leave her job. Then in August 2015, an opportunity appeared: a clinical trial testing an investigational antisense drug.
The trial made headlines in December of last year, as RG6042 appeared to be working; in fact, some patients were actually seeing some improvements in their functionality. Now, Michelle says that she is starting to feel better. She is more confident in her driving, she can speak in complete sentences again, and she feels more comfortable taking her dog on strenuous hiking trips.
However, she still has off days, and her son Joel, who also tested positive for the Huntington’s disease mutation, says that her memory may still be declining. Regardless, if the new drug gains approval, preemptive treatment may prevent Joel from ever having to deal with it. Only time will tell.