Misty Oto, Rosie Shaw and baby Kaili (photo by HDSA-San Diego)

As her mother succumbs to the genetic killer that is Huntington’s disease, 28-year-old Misty Oto hopes for a future that will free her and her two young daughters from the same fate.

 

As Misty recalls, her mother Rosie Shaw was an outgoing “spitfire” of a woman who became the first ever majorette at Castle Park High School in Chula Vista, lovingly raised six children through relationships with three men, and didn’t miss an opening day of the San Diego Padres’ baseball team.

 

“My mother was a big sports fan,” Misty says. “She loved the Padres, the Chargers, the Soccers and the Gulls. If it was a San Diego team, she supported it. With me and my mom, the bond was baseball. I know everything about baseball because of her. I have all of her baseball cards.” Living on a shoestring budget, Rosie took advantage of the San Diego area’s great outdoors and frequently went camping with her children.

 

But in 1992 Rosie’s life took a turn for the worse. Her own mother had died of Huntington’s disease in 1975 only three years after being diagnosed, even though the doctors had given her fifteen years to live. After several years of uncontrollably squinting and unconsciously humming songs, Rosie suspected that she, too, had HD. She also had difficulty counting money at her cashier’s job. A battery of tests at the University of California, San Diego confirmed her fears. (A genetic test soon provided further confirmation and helped Rosie qualify for disability payments.)

Life was not the same
 

“The year my mother was diagnosed she dropped out of everything,” Misty recalls. “Half her body was in the grave from that day. Life was not the same. She had anticipated it. After seeing her mother firsthand and seeing that her mother was supposed to have 15 years and only had three, she could only think that was her fate too.

 

“She sat on the couch and watched TV. Depression took a hold of her. Then she was more conscious of the disease. Things that you and I might overlook as clumsiness, she thought it was the disease. She had a pity party every day.

 

“If there was any chance for her last marriage to survive, it ended then. She stopped cooking. She made everything in microwave. She was afraid to watch her grandchildren. They put her on an anti-depressant, and that helped. And then along came the insomnia. Then the little things, like she’d be cold all the time and would have the heat up to 85 degrees. The bills would come and that would put a strain on her relationship.

 

“This disease quickly causes the demise of the relationship if the spouse is unaware or doesn’t have any compassion. I think it was a mixture of both for her last husband. The intimate relationship was not existent anymore. She noticed her body twisting, when there was no twisting. Sitting in a position of comfort was an issue. ‘You can choose not to sit like that,’ he would say. You can correct yourself, but your muscles do what they want to do.

 

“My mother kicked him out. She did everything to push people out of her life. She truly did become isolated, of her own will.”

Embarrassment
 

Rosie stopped going to Padres games because “she was embarrassed to be seen,” Misty says. Now living on her own, the 96-pound Rosie went down to only 76 pounds, a typical weight loss for a Huntington’s patient who does not receive proper nutrition. “We would take her to adult day care, but they couldn’t make her eat,” Misty says.

 

Rosie lived without a spouse for a year. By May 2001, when it became clear Rosie needed help, Misty and her siblings admitted her to Edgemoor Hospital, the San Diego County facility for indigent patients. At Edgemoor Rosie and more than a dozen other HD patients receive medication and meals and, if possible, participate in the hospital’s activities. For the most part Rosie remains confined to her room, where she watches television. Misty says that her mother, now 58, maintains many of her cognitive functions but is physically debilitated, confined to a wheelchair and wearing a helmet to protect her from frequent falls. She also suffers from dehydration, sores, and infections, and she speaks very little.

 

“HD absolutely robbed me of my mother,” Misty says. “I have a relationship with her, but it’s just different. I really have to choose some things to bond with my mother on, like watching her soap operas with her. I dye my mom’s hair because, when she got sick, she made me promise to do it.”

 

Rosie’s only pleasure is smoking. “She watches the clock for her next smoke,” Misty explains. “If it weren’t for that, she would just lie down in bed. If someone doesn’t come get her out of the room for her smoke, she’ll try to leave herself. The Edgemoor people gauge her mood by seeing whether she smokes. If she doesn’t, she isn’t feeling good, and they usually try to find out why.”

Steeled nerves
 

Growing up in a family with Huntington’s and watching her mother’s decline have steeled Misty’s nerves and, practically alone among her relatives, propelled her into the role of activist. As Misty looks back at a family struggle with HD that reaches back to the Spanish ancestors who came to Texas in the 1700s, she encounters much ignorance and prejudice about the disease.

 

“They didn’t call it Huntington’s. They called it St. Vitus’s dance,” she says of centuries past. “Typically they put the people with HD under the rug. Even when my grandmother was diagnosed in 1972, they did not talk about it.” A great aunt refused to allow a research autopsy on Misty’s grandmother, and an aunt in Texas who eventually developed HD did not tell her children about the disease until after they had given birth to their own children. “They would put HD people in mental facilities or turn them into pariahs,” Misty continues. “It was an embarrassment. They didn’t know what to think of it, because no one knew what it was.

 

“It was a different generation. It was already hard enough with us being Hispanic. Anytime you’re different, people are just afraid of the unknown. People would think HD people were retarded. People tended to stare and put people in categories, because they were uneducated.

 

“You see someone with a shaky hand, and you think it’s Parkinson’s. Someone with a shaved head has cancer. But HD is not widely known. Even today, every time my mother goes to another hospital for emergency treatment, Edgemoor calls me to go too. If I don’t go, she won’t get treated properly, because they’re not educated about Huntington’s disease.”

 

Unlike the rest of the extended family, Rosie provided her children, and especially Misty, with a new way of thinking about HD.

Bad luck
 

“My mother was very open. As long as I can remember, my mom discussed it,” Misty says. “I remember thinking, ‘That’s just our luck! This rare disease, and we have to be the ones to get it.’ She told us that it was inherited, that we would have a 50-50 chance of getting it, and that if we had kids, they would also have a 50-50 chance of getting it. If we had questions, she would discuss them.

 

“I’ve known about HD all through life. It wasn’t just dropped on me. I was able to absorb it. Some people choose to be affected by things in a negative way. I choose not to be. I could be up all night crying, but I’m not.”

 

After her mother’s diagnosis Misty sought to educate herself and others about HD. “Any book report I’d do on HD,” she recalls. “I remember in ninth-grade biology class they had a discussion in our book. I was annoyed that HD was in the same paragraph with cleft palates. There was one line about HD! There were more lines on cleft palates. I was upset and had to talk to a counselor.” A nursing student, Misty advocates changes in textbooks to reflect the uniqueness and seriousness of HD.

 

Misty became her family’s “liaison” to the world of HD. “That’s by choice,” she says. “I’m not going to rely on a physician to know what HD is when I can be educated myself. I’d rather have it in my control. If my family and spouse know that I have HD, and if somebody wants to prescribe Haldol (a drug traditionally given HD patients but now considered harmful) for me, that’s a no-no. I just feel at peace with myself being educated and informed.”

Fighting for her daughters
 

Misty’s hope is for a cure so that her daughters Malia, 2, and Kaili, 8 months, and her seven nieces and nephews don’t have to face the threat of HD. Already Misty’s older brother Jamie has HD symptoms. He has four children, all at risk. As part of her strategy Misty is training to run a marathon in 2008 to raise funds for research.

 

In planning their own family, Misty and her husband Randy decided to move ahead without learning her status. She did not get tested for HD. They also declined to test their daughters in the womb or to try preimplantation genetic diagnosis (PGD), a way of guaranteeing an HD-free embryo.

 

“Prior to even being seriously committed with Randy, I discussed Huntington’s disease with him,” Misty says of Randy, who has unflaggingly supported her. “We were together four years before we got engaged. He had actually seen the progression of my mother’s disease. I said to him, ‘If this isn’t something you could do, I would understand that. It’s a lot for someone to do.’ My mother was in Edgemoor before we got married. He was well aware that it was genetic even before we had children. We still wanted to have children. We chose not to let this disease affect the way we live.”

 

Getting a test result for HD is “not something I would want to know,” Misty continues. “I would feel guilty, not necessarily for my kids, but for Randy – because I would know what his future would hold, and I wouldn’t want him to be trapped. You would never wish this disease on your worst enemy. I would do the same thing my mother did. I would feel the sense to push people away.

Not living on the defensive
 

“Randy’s along the same lines as me: you never know what could happen. We didn’t want to live our lives being on the defensive. Who knows what the future holds? I could be hit by a bus. Or I could come down with something else.”

 

Misty also does not regret not testing the embryos or her children before birth.

 

“Honestly I didn’t give it much consideration,” she says, adding that PGD was too expensive. “I just felt that this was my life and if I have HD, then so be it. I just have faith that science is making progress. There will be a cure for me, and if not for me, definitely for my children.

 

“We’re lucky that we have perfectly healthy children now. There’s always a possibility of anything in life. I don’t regret that my mother had me, knowing very well that there is a possibility that I could have this as well. I do not begrudge my mother. I am happy for every day that I have on this earth. And I hope that my children feel the same.”