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.
About the Author
Vaughn Morgan
My wife was diagnosed with Huntington's a little over four years ago; there was no known family history, but our neurologist recommended being tested because her father died in his 50s, and she didn't know hardly anything about him or his medical history. We did have a telephone consult with a genetic counselor prior to the order being issued and blood being drawn, but said consult was only telling us how the 'repeats' work with the results, and what constituted a negative score, vs equivocal or positive. We had no other questioning at all, so in our situation, the process of getting the test done was very efficient and very easy. With no known family history, the positive results were a huge surprise to be sure, but our neurologist was spot on accurate to want to be sure to not leave any stone unturned. But thankfully for us, the process was very straightforward and efficient.
Jane Rude
Greetings to Mr.Briceno & his precious wife, Jill ! I have read this newsletter for years. Greg, my amazing cowboy biker redneck 6’2” husband, was diagnosed with Huntingtons ‘ Disease the end of 1998. He had the genetic testing done at that time in Tampa. However he had symptoms since about 1995. He also developed Parkinson’s. I was his shotgun rider, his pit bull, his Lioness, his protector ……many many years til I became his Advocate..his Voice. The medical team. Every person involved with him. They were truly amazing. The Lord. The Lord had us on a path. Greg passed away on Hospice , in our home 08/13/2022. I was graciously by his side. Humbly thankful for our lives — and his struggle had ended. There is no actual cure. Just treat each symptom as it comes. It remains an extremely rare disease of the brain. I would not have missed one day of his journey. I had issues that he was by my side also. A Team. May you be abundantly blessed.
Jake C.
Genetic Testing was a very big deal for me. My Grandmother had the disease and I set in its shadow for several years wondering if every random muscle twitch was a sign. I couldn't simply get tested at first, because a positive diagnosis would have also diagnosed my father in the process (and he did not want to know).
When he became symptomatic and tested positive, I got an anonymous test through Vanderbilt to avoid becoming uninsurable. The team at Vanderbilt are wonderful and made the process as minimally difficult as possible. Even still pseudonyms, not being able to file insurance, the wait for an initial appointment, the 30 day wait for a follow up, the mandatory genetic counseling all make for a stressful experience.
LaVona Morgan
My name is LaVona Morgan .. I am a retired day spa owner for 10 years when my HD systems started ..doing great now
.. trying to be an independent person ., I dress my self and pick out what to wear .. do need help with my bra .. I do need help with my hair washing it my husband help me .. I can get it washed and I can go to the bathroom by myself.. but couldn’t do it without my wonderful husband…so we live a good life still and enjoying it to the fullest
Sharon
Reading your wife’s thoughts on this is encouraging. After my daughter was diagnosed by family history and symptoms, her 2 children decided to be tested. Somehow they received the test in the mail, took it, and went to a doctor for results. One was positive and one negative. Neither had pre counciling. The 1 testing positive had one appointment with a doctor. Both have done really well adjusting to results. The family is very close and supportive, and no symptoms at this time.