In the News

As published in the Danbury News-Times, April 2, 2006.

Teen Takes Up Fight Against Huntington's Disease For Her Father

By Robert Miller

SHERMAN – When the crowd gathers at the Bantam Firehouse in Litchfield on Saturday, Frederick Maher will be there.

"Yes. He will," his daughter Melinda said emphatically as her father nodded in approval.

Eighteen-year-old Melinda, her mother, Charlotte, and her brother, Eric, have to speak up for their father.

Frederick Maher has Huntington's disease – a rare, degenerative neurological disease caused by the mutation of a single gene. He walks very slowly and holds on to a walker. Words come out of his mouth with difficulty.

Able to live at home two years ago, he's now at The Kent, an assisted-living facility in Kent that specializes in caring for people with Alzheimer's disease.

But Melinda is doing more than speaking. She has chosen to dedicate her senior year project at Shepaug Valley High School in Washington, Conn., to spreading awareness of Huntington's disease and to raising money for Huntington's research. Her goal is to raise $10,000.

The culmination of her project will be Saturday's benefit dinner at the Bantam Firehouse. Along with dinner, there will be a Chinese auction and a silent auction. But to get close to raising $10,000, she'll have to sell all 225 tickets to the benefit at $30 a ticket.

"I know I'm going to sell this out," she said. "I think there are enough people out there to support my efforts."

This is the second enterprise Melinda has launched to help Huntington's patients. Four years ago, she got companies to donate small items – shampoo, deodorant, makeup and perfume – which she used to fill 140 baskets. She then handed them out to patients at the Huntington's clinics at Columbia Presbyterian Hospital and Cardinal Cook Hospital in Manhattan.

"They each had a note saying 'This is just to let you know people care about you,'" she said "A lot of people liked them, and really liked the note."

Along with the benefit dinner, Melinda has been selling key chains to raise money for research. She's also held an in-school assembly to explain to people what Huntington's is.

While she's doing this for her father, Melinda also admits there's a personal interest. There's a 50-50 chance she'll get the disease. Any money she raises to advance the treatment of the disease may help her in the future.

"It's part of my life and it's something I have to deal with," she said.

"I'm very proud of her," Charlotte Maher said. "She's taken on something that scares her to death. And she's being a good daughter."

Huntington's disease is an oxymoron – it's a somewhat common yet rare disease. About 30,000 Americans have the disease and about 200,000 are at risk of getting it.

According to the Huntington's Disease Society of America, the disease affects as many Americans as diseases like cystic fibrosis or muscular dystrophy.

There have been descriptions of Huntington-like symptoms in patients going back to the Middle Ages. But the disease is named after Dr. George Huntington, an American physician who, in 1872, made the first detailed, clinical description of the disease and noted how it passed from generation to generation. Its most famous American casualty was the folk singer and songwriter Woody Guthrie, who died of Huntington's in 1967.

The disease is caused by one dominant gene mutation. Only one parent needs to have this mutation to pass it on to the next generation. Frederick Maher's father died of Huntington's disease, although it was misdiagnosed until after his death. It affects men and women equally and occurs throughout the world.

The disease is a steadily degenerative one. While there are drugs that can ameliorate some of the symptoms, there is no treatment for Huntington's and no cure.

The disease usually begins to affect adults in their 40s, although it can occur earlier or later. Its symptoms include irregular, jerky movements – called chorea, depression, psychotic episodes and cognitive changes. People can live with the disease for 20 years or more before it takes its toll.

Dr. Wallace Deckel, professor of psychiatry at the University of Connecticut Medical School in Farmington and a psychiatrist at the Huntington's clinic there – where Frederick Maher now gets treatment – said there are drugs that can help with the shaking movements and the depression of Huntington's patients.

What can be very hard on families, he said, is the loss of cognitive functions.

Early in the disease's progression, he said, Huntington's patients can undergo emotional changes. They can have trouble reading ordinary facial expressions of friends and family members.

"They start to lose the ability to see when people are upset," he said. "They lack the ability to think 'How am I doing' in social situations.'"

"They lack awareness of their own symptoms," Deckel said. "They can look at their own hand, which is shaking and another hand and a third of Huntington's patients will say 'Neither hand is moving.'"

Dr. Carl Johnson, executive director of science for the Hereditary Disease Foundation, said that by 1984, researchers had located the chromosome where the Huntington's mutation can be found. By 1993, he said, they knew the exact gene.

The mutation causes the DNA in each cell to have too many pairs of a specific genetic code. Most cells have 10 to 35 of these genetic pairs. People with more than 40 develop Huntington's disease.

"If you have 50 pairs, you get the disease in your 20s," Johnson said. "If you have 60 pairs, you get it as a juvenile."

These excessive pairings create a protein called huntingtin with too much glutamine, an amino acid. That, in turn, causes premature nerve death. in certain areas of the brain, including the basal ganglia, which lie deep within the brain, and which control motion and the cortex, the outer surface that controls thought, perception and memory.

Johnson said there several research projects underway to combat Huntington's disease. One of these is using gene therapy – inserting synthetically produced healthy genes into the brain carried in a viral vector, in hopes they can shut down the mutation. Researchers are now doing mouse and animal trials to see where this approach might lead.

There are also studies showing that the mitochondria – the energy-producing components of cells – in Huntington's patients may be defective, with that defect responsible for the nerve cell death. Researchers hope they can develop drugs to correct that defect and keep the cells from being damaged.

These approaches will take years to test. That's probably too long for Frederick Maher. He began developing symptoms of Huntington's around 1993. Little by little, the disease made it impossible for him to live at his Sherman home.

"We knew we had to get help when he kept falling," Charlotte Maher said. The Kent normally treats older patients with Alzheimer's or Parkinson's disease, but Maher said the facility's staff has adapted wonderfully to working with her husband.

When Frederick Maher talks, it's often hard to understand him. But he watches people intently and understands what they're saying.

His sense of humor is clearly intact and when he goes to the Bantam firehouse dinner, it will be with the friends he's made at The Kent and a nurse or two.

His children, Melinda and Eric Maher, can be tested now to see if they'll develop Huntington's.

That makes little sense now, Melinda said, because there's no cure for the disease. If she gets married and thinks about having children, then genetic testing might make sense – she'll want to know the chances of passing the Huntington's gene on.

But for the moment, she said, her goal is to live her life to the fullest – the message in country singer Tim McGraw's song "Live Like You Were Dying" is the creed she lives by.

"It may not be my fate to die of Huntington's anyway – I could die of so many things," she said. "There's no point in living always stressed out. You have to find joy."