A patient’s view of genetic testing for Huntington’s disease, part 2
Things change by building bridges, not barriers
Last in a series. Read part one.
Choosing genetic testing for Huntington’s disease is an act of courage on its own, as I pointed out in my column last week. But as my wife, Jill, discovered, the medical system’s maze can make it feel like an outright ordeal.
The protocols set by many healthcare systems sound reasonable on paper: an initial screening, then a series of meetings with genetic counselors, neurologists, and mental health professionals before and after blood is drawn. But the reality results in what Jill calls a “genetic interrogation.”
Instead of a straight path to your own medical truth, you may need to prove you’re “ready” to receive the results by jumping through hoops, repeating your case, and rehearsing your answers.
“If I went to a doctor for cancer, I’d get tested, they’d tell me if something serious was found, and I’d be allowed to process it however I needed — scared, angry, sad, you name it,” she said. “But with Huntington’s, we’re expected to prove we can handle it in advance.”
Jill argues that, of all groups, people facing Huntington’s are among the most emotionally prepared there are.
“We grow up in the shadow of this disease,” she said. “By the time we consider getting tested, we’ve imagined every outcome, felt every permutation of fear, anger, and hope. Being questioned again and again about whether I was ready was exhausting and, honestly, a little insulting. Most of us have lived this reality our whole lives.”
She worries that these complicated protocols may actually keep people from getting the care — or the answers — they need.
“It takes everything you have to work up to asking for testing,” she said. “If you’re talked out of it the first time, how likely are you to try again? Most people only climb that mountain once.”
Jill also wonders if classifying Huntington’s as a rare disease overlooks the many people discouraged from coming forward.
“Is it rare because so few people really have the gene, or because we’re making official diagnosis so hard to obtain? How many families avoid the process and are never counted or helped until it’s far too late?”
Pointing toward hope
Despite these frustrations, Jill’s perspective is hopeful.
She’s grateful for the people in the Huntington’s community who refuse to accept the status quo and work to move the ball forward. People like B.J. Viau, who saw his mother suffer from the disease, also experienced and witnessed how the system’s barriers left families stranded at precisely the moment they needed help most.
To his credit, he decided to create something better. He founded HD Genetics, a healthcare company dedicated to making genetic testing and counseling not only accessible but also genuinely empowering for people affected by the disease. Its mission is to ensure people aren’t just handed a clinical result; they’re given respectful guidance, clear information, and connections to clinical trials or community resources. It’s the kind of support that focuses on dignity and clarity at every step.
What gives Jill hope is knowing that someone is focused on listening to the community’s real needs and is designing for the future instead of relying on outdated methods.
“Support should be the default, not another hurdle,” she said. “I’m grateful for people like B.J., who build bridges instead of barriers. That’s how things change.”
Even in a world of rare diseases, positive change is possible when we turn toward each other, ready to lift the weight together, no matter which way the teeter-totter tilts.
Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Huntington’s Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Huntington’s disease.
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