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Sunday, July 5, 2009 | Jody Goldstein turns the key in her white BMW to drive to an appointment a few minutes after 9 a.m. on a gloomy Friday. Country music suddenly blares from the speakers, a hint at a morning ritual. “Just getting myself pumped up for work,” she says, grinning self-consciously. Crates of paperwork in files fill the backseat — work for the weekend.
Goldstein’s job clearly requires regular infusions of oomph, though she far outlasts whatever boost could have come from blasting Martina McBride on her way in to work at the Huntington’s Disease Clinical Research Center at the University of California, San Diego, in La Jolla.
Her days are long, fighting the battle on many fronts. Huntington’s is a fatal degenerative disease that causes parts of the brain to break down, and robs sufferers gradually of their ability to move, speak, think and control their behavior. There is no cure for the disease, and no way to stop or reverse its course. The disease runs in families and its odds are simple and awful — if your parent has the disease, there’s a 50 percent chance you will too.
She often meets patients before they’re patients, as they bring their parents or grandparents for treatment. Sometimes they elect to have their genes tested, to ascertain their own likelihood of later developing the disease, familiarly called HD. The center pulls together medical providers, genetic counselors, neurologists and psychologists in its work to improve the lives of the people affected by HD.
Goldstein coordinates the center’s efforts to study and treat the disease. She tracks patients through a number of clinical trials, some involving trial drugs, some just observational. She works to raise money, and awareness, and support for these people, many of whom fly in from around the country and the world to be treated at the center. Goldstein is bilingual — her mom is from Mexico — and she reaches out to the region’s Spanish speakers about the disease. She maps family trees, spends hours on the phone, takes her work home with her.
Her personal concerns take a backseat. Lunch? She scarfs down a sandwich mid-afternoon between appointments. Her clothes are nothing fancy: a black polo shirt and black pants, black shoes and black and gray argyle socks. Her curly brown hair is thrust into a clip and fussed with no more.
Goldstein’s work on a disease that is minimally understood stands out against the backdrop of diseases with more recognition and money for research. The patients at the center leave treats for her and joke about the long hours she works; their appreciation is palpable. It’s estimated that 30,000 people in the country have HD, that 10 times that many are potentially affected.
Locally, the center follows more than 450 patients — more than 300 with symptomatic HD in the San Diego region, the rest from elsewhere — and estimates there are as many as 1,500 individuals at risk here.
Goldstein spends a recent Friday morning focusing on clinical trials in a clinic resembling a typical doctor’s office. She starts with checkups for two patients participating in experimental treatments. They undergo EKGs to check how the study is affecting their hearts. They stop in at the hospital next door to see the center’s director, neurologist Jody Corey-Bloom, a petite, spunky doctor with a far-reaching reputation for treating and researching neurodegenerative diseases like Alzheimer’s and HD.
Corey-Bloom has the patients walk on their heels, then on their toes, then quickly down the hallway. She measures their dexterity, balance and gait. Before the patients leave the research center, they turn over the empty packages of their trial drugs and receive new doses.
Goldstein consults a big three-ring binder to make sure she hasn’t missed steps in the protocol for this particular study. “Motor tests, vitals, EKG, compliance, accountability, appointment for next visit …” she lists under her breath.
One patient in bright red ballet slipper-style shoes beams when Goldstein praises her for accurately taking all of her doses.
HD’s rarity and lack of prominence means those who do understand it develop strong bonds. The range of people affected is a reminder that genetic diseases know no bounds of profession or socioeconomic standing. A person can have it all together. Suddenly, typically between the ages of 30 and 50, he or she might begin to uncontrollably twitch, or flail their arms. A patient might forget the punch lines to their favorite jokes, or snap at their kids.
Goldstein’s morning has been with already-diagnosed patients. She will devote her afternoon to people weighing their genetic testing options.
People voluntarily have their genes tested, and it’s a difficult choice. The results can raise insurance questions. They can cause a couple to change plans about having kids, or inspire someone to drop out of school. They can spark depression and confusion. Goldstein and several genetic counselors and psychologists walk them through the decision, and give them several outs if they don’t want to continue. The process never feels routine.
“It’s literally like putting the crystal ball on the table,” Goldstein says. “These people are extremely courageous. You never catch yourself saying, ‘I understand,’ because you don’t.”
A tall, athletic young man comes out of the private counseling room after his appointment, Goldstein’s second of the afternoon, and volunteers to share his perspective with a visitor observing Goldstein’s work.
His name is Greg Forward. He’s 30 and lives in Phoenix. His mother was diagnosed with Huntington’s disease five years ago.
Forward has just been tested, and he’ll find out in a few weeks whether he will develop HD.
The disease has devastated his mom’s life. She first realized something was up when her moods started to swing wildly. Now, even as his focus is on how his mom is suffering, he’ll learn whether he can expect the same thing for his life.
“I don’t know if I ask too many questions,” he says. “I question, what’s next? Last year, memory. This year, speech. Next year, walking?”
He speaks calmly, gravely. His words and questions hang in the air, weighted by lowered expectations for his mom’s life, and maybe for his own. But he follows up these grim assessments with jokes and bets with Goldstein on pickup basketball games. Laughter is key, he says.
Forward has brought a friend with him to his appointment, a woman who is also 30, and who has also watched her mom suffer with HD. They met at a youth event at a national HD convention. She didn’t want her name to be printed because her mom keeps her diagnosis quiet. She has decided not to be tested for the time being — she says she’s not planning to have kids anytime soon and isn’t ready to know.
Forward says he has a rough idea of what he’ll do if his results in a few weeks come back positive for HD. “Probably sports will be part of it,” he says. “When I find out, maybe I’ll go out on a boat, a Jet Ski. Bring my guitar with me.”
In the course of Goldstein’s afternoon, some people, like Forward, are coming for that first pre-test appointment, the counseling during which they decide whether they want to be tested. Others are here to find out their results. Sometimes the people being tested have never seen the disease — they didn’t know the affected parent, or their parent died before the symptoms showed up. Others have a very clear picture, because their parents are currently deteriorating.
HD sufferers don’t strictly die from the disease but from complications — pneumonia, choking, falling. Many of those considering testing are in the prime of their lives, with the chance to learn they’ll soon become completely dependent on someone for their care.
“They may be 20 with no symptoms they may be finding out what they’ll die of,” Goldstein says. “When we are giving them their results, they’re basically looking in the mirror and seeing their parent.”
Forward says Goldstein goes “way, way beyond” the call of duty, especially since the disease is not in her family.
Goldstein studied biology at UCSD and took a couple of doctors she knew up on their suggestion that she get involved in research. She started working at the center seven years ago.
A rosary hangs from Goldstein’s rearview mirror, a reminder of her Catholic faith. She says she believes there is a reason for everything, that somewhere there’s a researcher working on the ailments that members of her family might suffer from.
Goldstein saved for 10 years to buy her BMW, forgoing movies and clothes and other expenses she deemed expendable. It’s a drive she has, she says, to pick something and focus on it and accomplish it.
In Goldstein’s work at the center, here is no clear benchmark, no piggy bank to fill, no line to cross to declare victory. After a long day of clinical trials and genetic testing appointments, Goldstein plops down at her desk.
“Once the A/C goes off, it’s just silent, and the noise around just settles,” she says, reveling in the quiet. She says she knows Dr. Corey-Bloom is still working, and that keeps her inspired to work.
It’s 6:30 on a Friday evening. Goldstein picks up the phone to do a telephone screening with a new person interested in getting tested for Huntington’s disease.
Clarification: Some references to Greg Forward’s family members were removed to protect their freedom to disclose their own information.