By John Lundy
Katie Weikum is living her life knowing she faces a 50-50 chance of one day having a chronic, progressive, genetic disease.
The 25-year-old from Maple Grove, Minn., also knows that a genetic test is available to conclusively determine whether she will one day suffer from Huntington's disease or not.
She doesn't want to know.
"So I get tested, and then what?" Weikum asked rhetorically during a telephone interview last week. "There's no solution to my answer. There's nothing I can do about it. And I'm helpless in that. And that's a powerful thing that I do not want to deal with."
What Weikum means, she explained, is that there's no cure for Huntington's, and although medications are available to mitigate some of the symptoms, there's no treatment for the disease itself. If she knew that she would one day be coping with a disease that will progressively produce problems with movement control along with dementia-like symptoms, there's nothing she could do about it.
The typical age of onset is 35 to 45, although that can vary considerably, said Dr. Martha Nance, medical director of the Huntington's Disease Center at Hennepin Healthcare since 1991. Weikum said she believes if she has the Huntington's gene, the symptoms will occur when she's in her 50s, which is when her father begin to have the symptoms.
But the ability to treat Huntington's could change within Weikum's lifetime. Nance said she's excited about research that's underway now.
"This is a treatment directed at the root cause of Huntington's disease," she said in a telephone interview.
Huntington's is caused by a genetic abnormality in chromosome 4, explained Weikum, who is president of the Minnesota chapter of the Huntington's Disease Society of America. If your father has the aberrant chromosome and your mother doesn't, you have a 50-50 chance of inheriting the bad one.
In Weikum's case, that means "if I get it from my mom, then I'm negative. Because if I don't have it, then I don't have it. There's no chance my kids would have it eventually someday."
The study underway now by Roche Pharmaceuticals involves gene therapy that would partially shut down the bad chromosome, Nance explained. A pilot study with a small group of patients determined that the therapy was safe, she said. The study now involves 600 patients who will be followed for two or more years.
Nance seemed optimistic about the prospects. She noted success in similar strategies for treating hemophilia and spinal muscular atrophy. She added that other companies are working on similar types of treatments.
"So we are now doing treatments directed at the gene itself," Nance said. "And even if this current trial doesn't work out or isn't perfect, the gene genie is not going to go back in the bottle."
Providing funding for such projects is the purpose for the Team Hope Walk, which will take place in Duluth on June 15. The local version of the walk, which raises money for the Huntington's Disease Society of America, has occurred since 2013, said Amanda LaFrance, 33, of Proctor. It's more than just a fundraiser, LaFrance said in an email.
"The walk is to not only create awareness and raise money but to create a sense of family and belonging," LaFrance wrote. "The (Huntington's Disease) community is small, and the local walk in the area makes you feel like you are not alone."
LaFrance does not have Huntington's Disease, and she knows that she never will. She was tested in September and got the good news in October that she was negative for the gene, she wrote.
LaFrance's mother died of the disease in 2005, having inherited it from her father. An aunt and an uncle of LaFrance's also died of Huntington's; one uncle was negative for the gene.
"Growing up seeing your mother passing away right in front of you has a huge impact on your life," LaFrance wrote. "Every day you live in fear of the unknown answer to the question, 'Do I have Huntington's Disease?' "
Two of her grandfather's four biological grandchildren now know they don't have the bad gene, she wrote. The other two haven't yet been tested.
About 85 percent of the people who know they may have the gene do not get tested, Nance said, although Weikum said it seems like people in her generation are much more likely to get the test done.
Nance considers to-test-or-not-to-test to be a highly personal choice and doesn't offer advice one way or the other. Some people may want to know because it could affect a decision on whether to get married or to have children, she said, or how long to stay in school and what kind of job to get.
"And a lot of people it's none of those sort of more glorious things," Nance said. "It's, 'I'm sick and tired of every time I trip, it's ... Oh, my God, is that the first sign of Huntington's?'"
Weikum gets that.
"I did go through a bout of it where if I dropped a pen I'd be like: Oh, that's it," she said.
She knows she wants to have children, Weikum said, but she doesn't know whether she will adopt or trust in the expectation that even if a child had the bad gene, a cure or at least effective treatment would be in place by the time he or she developed Huntington's. Another possibility is a PGD IVF -- genetic screening of the embryo. But that's extremely expensive, she said.
Nance treated both Weikum's grandmother, who died of the disease the year she was born, and her father, who was diagnosed 10 years ago. Her father, now 67, is managing the disease well, Weikum said. He limits his caffeine intake and doesn't smoke, because both can accelerate Huntington's symptoms. He eats with particular care, because there's a choking risk with Huntington's.
"He's still eating and feeding himself," she said. "He is still bathing himself. He's still driving. A lot of people 10 years in are not doing any of those things."
Her dad doesn't take medications for the disease, she said, because the medications available when his mother had the disease left her in almost a vegetative state. But there are medications now that can help patients cope with anxieties and calm the twitchiness that's characteristic of the disease.
"The movements can be painful to some people," Weikum said. "Plus ... it's not normal to walk around with your shoulders twitching. So people can take this medication so people don't stare at them, basically."
Having cared for people with Huntington's for 28 years, Nance said it's high time that the stigma surrounding the disease be overcome. "When you hide behind the shroud of stigma and non-communication, it just makes matters that much worse," she said. "And I think we are now in an era where we should just drop that. There's no reason to have a stigma anymore."
She's encouraged by a younger generation who are less reticent about the disease, Nance said.
Weikum and LaFrance are part of that generation. One knows she will never have Huntington's, and the other at least doesn't have it now. But both will participate in the Duluth Hope Walk and are enthusiastic advocates of the cause.
"We have a saying that we're in it to end it," Weikum said. "There's more hope than there's ever been toward this disease right now. With all of these ... research studies coming out, all these medications being tested and coming out, there's more momentum behind it than there ever has been."
Duluth Team Hope Walk
June 15- 8:30 a.m. to noon
Leif Erikson Park
To learn more: Contact Katie Weikum at (763) 291-1191 or Minnesota@HDSAVolunteer.org