Living in the shadow of Huntington's disease

Matt Manzone with his mother, Debbie Franczek, and sister, Chelsea Franczek.

Story highlights

  • Huntington's is a hereditary neurodegenerative disease
  • "To say I'm scared is an understatement," says Matt Manzone, whose mother has the disease
  • Manzone and his sister are at risk and have debated getting tested

(CNN)Four words have haunted Matt Manzone as long as he can remember: "Should I get tested?"

It's not an easy question for people like him to answer. Manzone is at risk of Huntington's disease, a hereditary illness that has robbed many of his relatives of fruitful lives. At only 32, he has lost aunts, uncles, grandparents and cousins. The disease is believed to be the reason two of his relatives committed suicide.
    For years, he prayed it wouldn't affect his immediate family. Maybe, just maybe, they'd be in the clear.
    On May 15, 2012, Manzone called his mother, Debbie Franczek, with exciting news. His wife, Danielle, was pregnant again.
    The joy was short-lived. Later that day, Franczek was diagnosed with Huntington's disease. It is slowly killing her.

    Living with Huntington's

    A year before, the family started noticing changes in Franczek's mood, behaviors, speech and gait. She'd slur words as she was speaking and jerk uncontrollably. Her moods were unpredictable at best.
    "We knew exactly what it was," says Manzone, who lives in upstate New York.
    Debbie Franczek blows out the candles on her 21st birthday with her son, Matt.
    The symptoms of Huntington's disease can be similar to those of amyotrophic lateral sclerosis, Alzheimer's and Parkinson's simultaneously. The Huntington's Disease Society of America reports that there are about 30,000 symptomatic Americans and more than 200,000 at risk of inheriting the disease today.
    Kevin Biglan, professor of neurology at the University of Rochester and director of the Huntington's society's Center of Excellence, has treated patients with Huntington's disease for much of his career.
    "It varies dramatically across individuals," Biglan says of the neurodegenerative disease. "Brain cells dysfunction and progressively die over a period of decades."
    According to Biglan, patients with the fatal disease experience a slow progression of symptoms over a 10- to 25-year period. "You can imagine if you are 25 years old, you may not have symptoms for 25 to 30 years," Biglan says. "It can create quite a bit of anxiety among individuals. It doesn't give you much predicted value."
    Manzone remembers the way his mom used to embrace tradition in her household -- and how much she cared. "She would take me to New York City every year for my birthday," he says.
    For the devout Catholic and single mother of two, church was not an option; it was mandatory. Every Sunday, she'd gather Manzone and his sister, Chelsea, for Mass and family dinner.
    Since she was diagnosed with Huntington's disease, Franczek's personality has slipped away, along with the traditions she once set forward. "She doesn't go to church anymore," Manzone says. "In her words: God wouldn't do this to me."
    "She's accepted the fact that she will just get worse and worse," Matt Manzone says of his mom.
    Franczek stopped attending church right around the time she said goodbye to a job she cherished for 25 years. At just 48 years old, after spending her entire career as a dietary clerk at a local hospital, she could no longer mask the symptoms of the haunted genetic disorder. Manzone too worked at the hospital, where they had lunch together every week.
    "It was an emotional goodbye," he recalls.
    These days, life is a lot different for the entire family.
    Franczek is no longer capable of completing basic tasks. Even writing a card is too much. She takes various medications to help manage the jerking, depression and personality changes. Her diet is limited because swallowing is difficult. Her speech is broken, so she can't properly communicate her thoughts.
    "She has lost all drive," Manzone says. "She knows there's no cure, and she's accepted the fact that she will just get worse and worse."
    Franczek couldn't even hold her granddaughter the day she was born in 2013. Manzone feared she'd accidentally drop her.

    To test, or not to test?

    None of this rings uncommon to Amy Chesire, a social worker for New York state, who has worked with Huntington's disease patients for 25 years. Both Chesire and Biglan believe that with new therapies, support groups and the right treatment plan, patients don't tend to see the disease in such monstrous terms.
    "I think sometimes calling it a death sentence gives too much power to this disease," Chesire says.
    In the same respect, Chesire and Biglan acknowledge that the disease brings a financial burden to many families -- and that it ultimately causes death. Most commonly, patients die from pneumonia, falling, suicide or blood clots or infections resulting from progressive immobility, Biglan says.
    Matt and Danielle Manzone now help watch over his 17-year-old sister, Chelsea, who still lives with their mother. Like Matt, Chelsea has a 50% risk of carrying the faulty gene. If either of the siblings were diagnosed with Huntington's disease, the same would be true for any of their children.
    Although the question continues to haunt Manzone, he has decided not to get tested. The only two things that would change his mind: If he started showing symptoms or if a cure is discovered.
    His sister is of a similar mindset but remains open to the possibility down the road.
    Matt and Danielle Manzone made the choice years ago to have children without testing. They now have Giovanni, 6, and Milania, 3.
    "To say I'm scared is an understatement," Manzone says. "I worry for myself. I worry for my wife. I worry that I will one day leave her a widow and our children without a father because of this disease."
    But still, he stands by his decision, although not everyone accepts it so easily.
    "People have asked us, 'Why did you even have children?' " Danielle says. "It's such a personal question. So he's not allowed to experience fatherhood because a terrible disease runs in his family?"
    If there's something everyone can agree on -- Biglan, Chesire and the Manzones -- it's that there's no right or wrong answer. Getting tested or pursuing a treatment plan is personal to each individual at risk of the disease.
    Manzone's focus remains staying strong for his family and taking care of his mother, as her need for care becomes more constant.
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    "She was outside recently, and I overheard Giovanni say, 'Grandma, does Mom know you're out here by yourself?' " Danielle says. "He knows something is not right."
    The Manzones choose to take everything day by day, but Matt knows he may, one day, end up like his mother.
    "If I do ever develop the symptoms and get diagnosed with Huntington's disease, I know I am going to fight like hell," he says.