With no cure, little hope, a family struggles with Huntington’s disease
09/01/2014 12:00 AM
09/01/2014 12:48 PM
Only one summer ago, a smiling Lizvet Gonzalez celebrated her quinceañera, her 15th birthday party. With a tiara on her head, the folds of her magenta princess dress arrayed around her like the petals of a bright flower, she slowly made her way into the fiesta leaning on a walker. In the video the family took of that moment, you can hear an aunt burst into tears before she rushed from the room.
“Everybody was crying because we made her quinceañera, and she’s sick,” said Lizvet’s father, Raul Gonzalez, 35.
He’s sick, too, but Lizvet is sicker with the incurable brain disorder that haunts their family: Huntington’s disease. Passed down genetically, it causes cells to waste away in a part of the brain that regulates movement, thought and psychiatric symptoms. People with Huntington’s typically have little control over how they move. Their judgment and thinking decline, and so does their speaking ability. And they can develop psychoses, as well as obsessive-compulsive symptoms, depression and anxiety.
It’s as if one disease combines the most severe features of Parkinson’s disease, Alzheimer’s disease and schizophrenia – but unlike those illnesses, Huntington’s is always fatal. Also unlike those illnesses, the cause of Huntington’s is clear: People who have inherited the gene for Huntington’s will inevitably get the disease.
“There’s something about this being a family disease that gets you in the heart,” said Dr. Vicki Wheelock, the neurologist who directs the Huntington’s disease clinic at UC Davis Medical Center.
The neurodegenerative illness, which affects 30,000 Americans, usually descends at midlife, as it did for Raul Gonzalez, a former Foster Farms truck driver. Just as people are in their prime – marrying, having children, working hard and establishing themselves in the world – they begin growing ill. But the reality of the illness for Lizvet is even more devastating. Sometimes, this disease of middle age strikes many years earlier, robbing children of who they are and what they could be, before they’ve even had much chance to live.
That happens because of the destructive biology of the disease. With Huntington’s, a mutated gene causes a sequence of three amino acids – cytosine, adenine and guanine – to repeat an abnormal number of times in the DNA coding for a particular protein. The higher the number of repetitions, scientists know, the earlier the onset of the illness. Lizvet, who began showing signs of the disease when she was 5 and was diagnosed at age 10, has 72 repeats of the amino acid trio, said her mother, Gracie Alfaro. Raul Gonzalez, with 54 repeats, was diagnosed a little more than two years ago, four years after his daughter.
Even though the mutant gene causing Huntington’s was identified in 1993, no treatment has been developed to cure the disease or even delay its onset. Care involves controlling symptoms with a range of medications and treatments.
But the UC Davis Huntington’s clinic has received a $19 million grant for the first FDA-approved stem-cell therapy for Huntington’s patients, hoping to restore brain health early in the disease process. The Phase I clinical trial, which begins in 2015, will implant customized stem cells into the brains of people who are in the earliest stages of Huntington’s, using a therapy that’s proved effective in trials on animals.
“I don’t want to be Mother Teresa and help people die better,” Wheelock said. “I want to help them live better.”
Of the 150,000 Americans at direct risk of developing Huntington’s – because a mother or father was diagnosed with the disease – only 5 percent nationally choose to have the predictive blood test that shows whether they inherited the gene, too. Before age 18, no one is tested unless signs of the disease are already present, said Huntington’s Disease Society of America community services manager Anne Leserman.
Gonzalez didn’t want to take the test. Huntington’s disease killed his mother when she was 41, and it has taken root up and down his family tree. But like many of his relatives, he said, he never wanted to dwell on the shared family illness: Even when he married Alfaro, his high school girlfriend, and they had Lizvet a year later, he didn’t talk about his mother’s cause of death. He wanted to work and live his life. He didn’t want to focus on the possibility of dying.
But when Alfaro began to bring Lizvet to the UC Davis clinic for appointments in 2008 – driving the 120 miles up from the tiny Central Valley farm town where they live – Gonzalez often came, too. Wheelock recognized that he had signs of Huntington’s: the involuntary movements, the lurching walk and slurred speech that can lead people to think someone is drunk.
“Dr. Wheelock told him plain and simple that Lizvet couldn’t have this illness unless he had it,” Alfaro said.
So he got tested. And now he’s one of Wheelock’s patients, too.
Huntington’s has forever changed the Gonzalez family. Raul took great pride in supporting his family but has had to go on disability. Gracie, a 35-year-old former assistant bank manager, has become the full-time caregiver for her husband and her older daughter. And their younger daughter, Natalya, an energetic 7-year-old whirlwind, devotes herself to helping out, pushing Lizvet in her wheelchair, fetching clothes for her and helping decipher Lizvet’s infrequent and increasingly hard-to-understand words.
Lizvet was bright and active, too, when she was little. She liked to help her mother wash dishes. On weekends, her father took her to the local flea market to shop and ride the horses. And on every birthday, she and her parents celebrated at Disneyland. When she began having trouble in kindergarten – she couldn’t retain what she learned – her mother launched into the process of figuring out what kind of learning disability she had.
“Her doctors wanted to rule out everything else before they tested for Huntington’s,” Alfaro said.
Neurologists in Madera and Modesto ordered MRIs, CAT scans and X-rays, one test after another, year after year. Lizvet’s walking and coordination gradually declined. Her memory became worse. She couldn’t write as neatly. Finally, doctors ordered the blood test for Huntington’s. On June 30, 2008, a few days before she turned 10, the family received her diagnosis.
That was the day the Gonzalez family began the long process of saying goodbye to Lizvet, watching her motor skills, cognition and speech continue to fade while hoping for something that could make a difference. Huntington’s patients can live a decade, even two decades, after symptoms first appear – time, perhaps, for better answers to be found.
It turns out that neither Lizvet nor her father qualify for UC Davis’ upcoming clinical trial: In both, the illness is already too far advanced.
“But there’s still hope,” Alfaro said. “There’s other research that could come along. If we can hold them off with medication, they can possibly be helped.”
A year ago, Lizvet still stood on her own, still walked with the help of a walker, still ate every day, still talked. She still attended special education classes at Turlock High School. And she shined at her quinceñeara, a pretty young woman excited to get her hair and makeup done and bask in her extended family’s love.
But she has declined quickly since then. After surgery last winter to insert a feeding tube, Lizvet didn’t return to school, though a teacher comes to the house twice a month. She still speaks now and then, but she has trouble forming the words. Her hands twist. Her muscles go into spasm. Not long ago, she had a grand mal seizure.
On a recent morning, she was propped on the sectional in the Gonzalezes’ living room, unable to stand or even sit up without being bolstered by a big U-shaped pillow in her lap. Once or twice, she smiled at something her mother said. Sometimes, she whimpered and cried.
“High School Musical” – Lizvet’s favorite movie, which cheers her and calms her down – played on the TV across the room. Her mother, never far from her side, stroked her forehead to comfort her.
“It’s not what I expected life to be, but it’s what we’re here to do,” Alfaro said. “We don’t understand God’s plan, but he sure does. There’s a reason for all of us to be here. I’ve just got to do what I have to do.
“We take it day by day.”
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