Last summer, Alexandra Boothby developed a facial tic. She worried that it was the beginning of a hereditary medical condition that had taken her father’s life but, at 23, she didn’t want to “go there.”
Then she noticed some shakiness in her hands and feet. But it was a photo of herself that made her accept the reality she had tried to avoid.
“I saw a picture from our family cruise,” said Boothby, an Abington resident who teaches autistic children. “I started crying because I saw it in my face — it made my smile crooked.”
That “it” was Huntington’s disease, a genetic neurological disease that has stricken her grandfather, father, and seven aunts and uncles. Six of her relatives have died from the progressive disease, which has no cure.
After being diagnosed in April based on her physical symptoms, Boothby refused to cower.
“I want to make people aware and help raise money for research,” she said. “HD has changed my outlook on life. I try to live each day, one day at a time, and do things now that I may not be able to do later. I spend time with my family, take walks, and write about the good and bad of HD.”
The good, she said, is how it made her more positive, and made her closer to her family. She writes about this in a blog called Living With Passion (www.livingwithpassion90.blogspot.com), suggested by her older sister, Elizabeth.
At first, Boothby said, she was embarrassed by the symptoms. “Getting it out there finally helped me get through it. People tell me I’m helping them live more positive lives, even if they don’t have HD,” she said.
After admitting to herself that she probably had HD, Boothby told her mother. “I already suspected it,” said her mother, Mary Bergeron. “I didn’t want to say anything, because I wanted her to finish college, but I knew.”
Bergeron said that acknowledging the disease lifted a huge weight from her daughter’s shoulders. “She worried constantly about getting it, all through high school, so when she finally accepted it, she could start living with it” rather than fearing it.
This past July, Boston Medical Center’s Dr. Samuel Frank diagnosed Boothby, now 24, more definitively with a blood test. Boothby is one of 30,000 people in the United States with Huntington’s disease, which causes a progressive breakdown of nerve cells in the brain, affecting the patient’s physical, cognitive, and psychiatric health.
Even after researchers discovered the HD gene in 1993, doctors know very little about Huntington’s. “It’s like having ALS, Alzheimer’s, Parkinson’s, and MS [multiple sclerosis] all wrapped up in a genetic package,” said Frank.
In addition to the original symptoms, Boothby said, she is sometimes off balance, has a hard time opening things, has slurred speech, and easily drops things. She is forgetful, has difficulty concentrating, and has developed obsessive-compulsive disorder.
She finds support through the Huntington’s Disease Society of America and the National Youth Alliance. Alliance president Seth Rotberg, a 23-year-old who carries the gene for HD, said the 500 members advocate for one another, and raise money and awareness.
“Alex is an inspiration to all of us and a great person,” Rotberg said, “and she’s unbelievable with her positive mindset.”
Connecting with others is important to help her and her family deal with the emotional and physical parts of HD, said Boothby. She and Elizabeth attended the Huntington’s Disease Society annual convention in June, which she said “was the best experience.”
The severity of her symptoms varies from day to day. “If she sleeps well or is excited about something, her symptoms seem less,” said Elizabeth, who at 26 has no symptoms and has chosen not to be tested. “So we try to give her things to look forward to.”
For Alexandra, that can be as simple as a visit with her new godson or running an errand with a family member. “Babies and being with family make me happy,” she said.
Frank said Boothby’s attitude serves her well. “Being relaxed and happy can minimize the symptoms,” he said. The only treatment is drugs that help reduce the symptoms.
Advances made in other diseases such as ALS have helped the study of Huntington’s, Frank said, “but there is so little funding. It’s amazing what the Ice Bucket Challenge [to raise awareness] has done for ALS. HD needs an ice bucket challenge all its own.”
Boothby is realistic about her future, but tries not to dwell on it. Her blog, she said, helps her not fear Huntington’s disease by creating awareness about it.
“Eventually, I’ll be confined to a wheelchair,” she said. “I’ll have more trouble talking and swallowing. HD doesn’t kill you, but other things [brought on by the symptoms] do.
“But I look for something to be happy about every day. Everyone has challenges. My situation could be worse.”Christie Coombs can be reached at firstname.lastname@example.org.
Correction: An earlier version of this story had an incorrect name for Dr. Samuel Frank.