Seeking Diagnosis, Care and a Cure for Juvenile HD
HD families are just that families. Within the family, there may be symptomatic, asymptomatic, at-risk and HD-free individuals. The Pillis Family has them all. How each member has been touched by juvenile HD shows clearly the breadth of the challenges this disease creates.
For five years, Pat Pillis knew something was wrong with her son Shane. While she was told that Attention Deficit Hyperactivity Disorder (ADHD) was causing his unpredictable behavior, she was sure he was misdiagnosed. "From the time he was 10, I knew he was sick, but I couldn't get anyone to listen."
Pat suspected juvenile Huntington's Disease. Pat and Paul Pillis have four children. Three are sons whose birth mother was affected by Huntington's Disease. "I took the boys to visit their birth mother every three months," Pat recalled. "Once you see Huntington's, you know what it looks like. I saw it in Shane."
When Shane was finally diagnosed, at age 15, it was actually a relief. "It was very frustrating," noted Shane's older brother Kevin. "When things started going crazy, my Mom would talk with me, trying to figure out what was bothering him. The diagnosis answered our questions."
"Before we had the diagnosis, we spent thousands of dollars on therapists for Shane and they would say, 'I can't reach this kid'," added Pat. "After the diagnosis of juvenile HD, we started going to a family counselor and things got better."
Shane's little sister Shannon, eight years his junior, found that the diagnosis changed everything. "Dad was convinced that Shane was a bad kid. Everyone was getting violent and mean. Once he was diagnosed, we knew that if he hit Mom, it wasn't because he hated us, it was because he was sick."
Shannon described what she experienced before the diagnosis. "When I was in elementary school, I acted like the big sister to him. When people would whisper, ‘What's wrong with him,' I always wanted to protect him."
At times, though, Shannon felt afraid of her brother. "When he got violent, I would hide in the corner of my Mom's walk-in closet. I knew he didn't mean what he did. One time he was kicking me and crying at the same time. He didn't want to do what he was doing."
As she got older, Shannon was able to share her feelings with the school guidance counselor. "In sixth and seventh grade, I was close to this one guidance counselor. At that point, I was old enough to have feelings about it. Before that you're just a little kid."
Shane's school tried to accommodate his illness, as required under the Americans with Disabilities Act (ADA), but they were unsuccessful. "Because Shane likes cars, they put him in an automotive mechanic program, but with his chorea, he couldn't do it," Pat observed. "That's when we began an extensive search for a residential school."
The Pillis Family was fortunate to find the Crotched Mountain School in Greenfield, NH. Shane was the first student at the school with HD. "The school is set up for students with multiple disabilities, both mental and physical. For the first time in his life, Shane felt that he fit in." Shane has been at the school for three years and will remain there until he turns 21, next summer. "It was amazing what they could do for him there," said Kevin. "He thinks of it as college," added Shannon. "He can live on his own in a house, like a dorm. We couldn't give him much freedom."
Many things changed for the family when Shane moved to Crotched Mountain. "When Shane was still living with us, I always made time for Shannon by using after school respite. That way she could have her piano lessons and I could go to all her games. But it was hard. We were trying to live a halfway normal life, with people going in and out. Shane felt left out of that and also stressed at school," said Pat. "It's a lot more quiet in the house now," added Shannon. "I miss Shane, but I don't think we could handle him now. I know we couldn't."
While Pat always had the feeling that Shane had HD, it was more of a shock when his brother, Kevin tested positive in June 1999. Kevin, now 24, shows only the earliest symptoms of HD. He currently works 4 days a week at a facility for troubled kids. Kevin places his hope for the future on a cure.
Shannon agrees. "I definitely want a cure for my brother Kevin. A cure that could stop HD exactly where it is or reverse it." Shane and Kevin's older brother Fred, now 27, has shown no symptoms of HD and has not been tested.
Because Shane's HD is advanced, Pat's wish for the future involves care, as well as a cure. When Shane reaches 21, he will no longer be able to live at Crotched Mountain. Raising four children across the spectrum of the HD experience has been challenging for the Pillis Family. They credit their faith with guiding them. Pat is also very involved with HDSA on the national level. "Since my first convention in Rochester, I have been very active. I have led the juvenile HD workshop at the National Convention and I contributed in a small way to HDSA's new Juvenile HD Handbook. I am hopeful for a cure," she concluded. "A cure in time for both Kevin and Shane. I don't feel hopeless at all."