In 2008, Shelly Meadows got the news that her uncle had just been diagnosed with HD, a disease she knew nothing about. She hung up the phone and went straight to her computer, and what she learned online scared her. If he had the gene, and it ran in families, then did that mean she and her other relatives might also be at risk? It was basically the first time anybody in her extended family had heard of HD, and nobody yet understood what it meant.
Meadows found out online about the HD Centers of Excellence and started calling around in the state of California, where she lives. The first person to answer the phone was Jody Goldstein, a coordinator at the HD center at the University of California, San Diego (UCSD). “We talked for a couple of hours,” says Meadows. “I was taking notes and notes.” It was the beginning of a relationship that would last for years and come to include much of Meadows’ extended family.
Meadows’ mother and aunt, both sisters of Meadows’ newly diagnosed uncle, wanted to get tested, so she traveled with them to UCSD. “We felt we were in good hands,” says Meadows. “They had a whole team explaining things. They were very professional.” Both sisters had the HD gene, so other members of the family decided to get tested too. They were scattered across California and the western states, but they gravitated toward the San Diego center and Goldstein, who made them feel at home.
Goldstein told them about COHORT, the long-term observationalstudy that came before Enroll-HD. For many in the family it seemed like a good way to learn more about HD and get involved in research. Because quite a few had to travel long distances to the San Diego study site, they decided to coordinate their study visits, turning the annual visit into an informal family get-together. “In the beginning it provided a sense of security—we’re all in this together,” says Sarah Weber, Meadows’ cousin. “Everybody wanted information, and everybody was blindsided by the disease. This was an opportunity to do it all together.”
“When we get together, we have fun,” says Shelly Meadows. “It’s just how we are.”
They kept up this pattern for years: At some point in July, the family would convene in southern California. Weber flew from Idaho to her mother’s house in central California, and the two drove down to stay with her cousin in southern California. Meadows’ and Weber’s aunt, Sherry Campbell, also has the HD gene. She’d fly in from Tucson, and a few other cousins and sisters would also join them.
En route to San Diego, they’d catch up. “When we get together, we have fun,” says Meadows. “It’s just how we are.” They’d also practice answering questions they remembered from the previous year’s tests—counting backward from 100 by 7s, for example, or quizzing each other on how many words they could name that started with the letter A or S (one of the questions on the COHORT cognitive exam).
Within a few years a dozen or so people from the family were involved, so the team in San Diego would book them all together, even bringing in staff to do some tests on Sunday. “They really bent over backwards for us,” says Meadows. They’d order pizza for lunch, and make a day out of it, hanging out in the conference room, doing crossword puzzles and using the center’s Internet connection. The family is outgoing and gregarious, so the atmosphere was light. “They made it like a party,” says Campbell. “It was very easy, and nice.”
Goldstein, now at the University of Rochester Medical Center, says that she and UCSD neurologist Jody Corey-Bloom, MD, PhD, were determined to make the visits as convenient as possible for all study participants. The team would shift appointments around in order to make sure that people who worked could come in after work or on weekends, she says. “It’s really making research possible for the families.”
Sticking with the study
They now realize that even though nobody recognized it at the time for what it was, HD had affected previous generations. Campbell’s father (Weber’s grandfather) became ill-tempered toward the end of his life, and he also had chorea, says Campbell. But he wouldn’t go to the doctor, and the family thought it was something like Parkinson’s disease. He lived until the age of 85. His mother—Campbell’s grandmother—was also erratic in her old age. But she had diabetes, and the family assumed that was why her personality changed.
In 2014, the group that made it to San Diego for Enroll-HD was smaller. Four of the six siblings in the older generation have the HD gene, and some are starting to have difficulty with symptoms. Other family members have small children at home, or jobs that make it difficult to take days off and travel to southern California. And even though the camaraderie of family makes it easier to take, the visit might feel like a reminder of what the future might hold.
But some in the family are determined to stick with it. Weber has not been tested and does not know her gene status, but she believes it’s important to volunteer for research nonetheless. She says that being involved in research has made her more optimistic and less frightened of HD. Weber is now a clinical trials research champion for the Huntington’s Disease Society of America for the state of Idaho, where she’s involved in educating families and letting them know about studies that might be coming up.
“I feel lucky that we have a group of our family going,” says Weber. “It definitely makes it more fun than it could be.” It’s not easy to confront the reality of HD, but for her, and for many of the other people in her family, having more information about the disease and volunteering together for HD research makes it a little bit easier. “It’s not a positive thing, but there are positive aspects of it that can come from it if you’re willing to get involved.”
This story was originally published in the Spring 2015 issue of Enroll!