Would You Want to Know If You Have Huntington’s?
Editor’s note: This column briefly mentions the topic of suicide. Please find resources for help at the end of the column.
Unlike many rare genetic disorders, Huntington’s disease doesn’t have an approved treatment regimen that will halt, stop, or slow disease progression. However, it is relatively simple to undergo a genetic test that tells you if you have the genetic mutation.
If you have it, you will start developing symptoms one day. Considering that it’s mostly an adult-onset disorder, would you want to know that you will develop this progressive, neurological disease if there isn’t anything you can do about it?
As I mentioned in a previous column titled, “Mental Preparedness Is Crucial Ahead of Genetic Testing,” an observational study found that 90% of the estimated 200,000 people at risk for Huntington’s in the U.S. choose not to take a genetic test, largely because there aren’t available treatment options.
Because Huntington’s is an autosomal dominant disorder, one of the hardest parts for many at-risk individuals is watching a parent slowly lose their life. The individual then has to look in the mirror and wonder if it will happen to them, too. The Huntington’s Disease Youth Organization created a video that shows how young people are impacted by living in a family with Huntington’s.
As part of the 10% that chose to find out our genetic status, I always felt the sooner I knew, the sooner I could prepare my mind for the future. Other people I have gotten to know through the Huntington’s community also seem to be a part of the 10%.
This leads me to wonder: If you are more involved in the Huntington’s community, are you more likely to seek out genetic testing? Involvement could include volunteering for an advocacy group, participating in local events, or fundraising.
I am not sure a study has the answer today, but I believe the more active someone is in the community, the more educated they are about the disease. The more educated someone is about the disease, the more likely they are to want to know their genetic status, I suspect.
Regardless of a person’s decision to get tested, their reaction to their results is unique. I’ve seen people respond in a variety of ways, both firsthand and secondhand. Some are told they have the genetic mutation, and they adopt a healthier and more satisfying lifestyle. Unfortunately, others go as far as taking their own life. I’ve also seen a spectrum of emotions and reactions from those who test negative for Huntington’s.
With a promising group of treatments either undergoing human clinical trials or preparing to enter them, the genetic testing outlook for the 90% may soon shift.
The question for the future is: At what point will the 90% of untested individuals feel confident that there is something they can do to halt disease progression? Will it be the opportunity to participate in a clinical trial for a new treatment? Will it be the opportunity to take a medication approved by the U.S. Food and Drug Administration? Time will tell.
I also hope these treatments will prevent people from taking their lives after learning their genetic status. Treatments can’t come soon enough. Until then, we will look for ways to help and support those who need it!
When would you want to know your genetic status? Please share your thoughts in the comments below.
If you or anyone you know is experiencing suicidal thoughts or needs someone to talk to, please call the National Suicide Prevention Lifeline at 1-800-273-8255 or visit suicidepreventionlifeline.org.
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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
Allyson Button
My mom & grandmother had HD. I didn’t get tested until I had symptoms @ age 48. All of my family members got tested . 3 were negative & 3 positive including me. I had no counseling before getting the results . I attempted suicide 2
Bud am still here . Not suicidal anymore .
B.J. Viau
Thanks for sharing your experiences. I'm glad to hear you are still here living life! HD is tough, no way around that. As I mentioned in the column, I am hopeful for new treatments soon for you, your family and many others impacted around the world!
Paula Noe
My mother's side of the family has HD and 4 of 6 have died with it the 2 are still living with other health problems but no sign of HD I have recently decided that i want to be tested because I have noticed a couple signs I'm 51yrs old and have lived longer than any of my family that had HD so if I do start with the symptoms I feel like I have lived well past most of them so I believe I can handle that just fine The not knowing is what im struggling with I also had a brother that passed with HD and his son passed with early childhood onset HD Thank you for all of your research
Barbara
My father and grandmother had it. My father had 2 brothers and 2 sisters. One of his sister's (my aunt) had it. My father didn't show signs until his early 60s -- he passed at 86 this year. He only really started to progress in the last year - and died from pneumonia. My grandmother showed signs in her 30s. My aunt showed signs in her 50s. I have 2 brothers and we are at risk. I'm 60 -- they are in their 50s. Both my father and my aunt had CAG repeats of 40. I'm terrified to get tested and so is one of my brothers. My other brother is 52 -- he is showing signs, but not open to conversation -- and will not get tested. People think that because I made it to this age and not showing symptoms, I'm safe -- but I look at my father and aunt -- same CAG repeat -- and 2 very different experiences. Because of that I know I'm still at risk. I do not want to get tested.
B.J. Viau
Hi Barbara - thanks for sharing your family story with me. I hope you have hope that many of these treatments will show positive signs and take away your uncertainty. Situations like your brothers are very tough and unfortunately common in HD. What do you think would need to happen for him or you to want to pursue testing?
Serge
My wife is concerned but was late detected as she was adopted. Symptoms evolved for many years before the disease was correctly analyzed and confirmed. it looked not real at first. She is now aware of future but our exchange on the HD is stricly limited to what is necessary (no need to be polluted).
We participate to one HD protocol, it is a way of keeping some hope although it is clear that new therapies will be available too late for us.
one positive aspect is that our own children were too adopted !
B.J. Viau
Hi - thanks for the comment and sharing your family's HD story. Adoption seems to play a part in so many families impacted by HD and adds a whole different aspect to detecting and diagnosing HD. Very glad to hear your kids are not at-risk!
Cheryl Donnelly
My doctors say it's prudent to get tested but wouldn't because I won't take more psych drugs that don't work. Was supposed to be retested for Als as well. Blood serotonin is toxic high high folate, severe underweight do eat I need help
B.J. Viau
Testing is definitely a very difficulty and individual decision. There are both positives and negatives with learning your genetic results, but you'll have to weigh those and come up with your own decision. Best of luck!
brigitte jones
As a social worker who once worked for a HD organisation I understand the trepidation the very young persons may face re testing. Though before marriage or contemplating having children, plus future planning, testing really is needed. Altogether getting tested re research and governmental planning for care needs etc. make testing important. Since I get nervous about heath checks (rarely done) re cancers etc. I wondered if I was being hypocritical re HD test avoidance? I wasn't, as my fear is the treatments, over diagnosis etc., these checks re cancer etc to feel compelled to try if had the baddish news. Finding out if HD positive is distressing, but nothing needs to actually cause actionable change afterwards. Since there's few things that treat HD, just alleviate. The years can fly by to to when becoming symptomatic if underlyingly positive in many cases, so avoiding testing isn't deferring facing HD by all that much. Plus prolonging the watching and waiting for the ones who are negative.
Lori A Nicholson
My aunt died in her 90's with HD. My dad started getting chorea and mood swings in his 70's and passed at 88 from unrelated. His CAG was 39, I have not been tested, nor have my cousins. I suspect my grandmother had it because she had depression problems, balance and lots of fidgety behavior and blinking alot. She lived to be 94. Ironically, my two step-sons lost their mother to HD 3 years ago. She presented with symptoms in her 40's. If I do get tested it will be so that I put a living will in place that makes sure I'm not kept alive should I need intubation. I'd rather leave assetts to charity than to rott away in a home. Nope, not doing it. In fact, I may move to a state that offers death with dignity. I'm Catholic, so this idea doesn't sit well, however, there are worse things than death. My step sons won't get tested either because there's no cure. I'm 63, they're 36 and 39. I've been asked to join a group at UCONN Health. Not sure yet. My mom's side passed down the BRACA 1 gene which I also have. A genetic mess!
B.J. Viau
Hi Lori - thanks for the note and background story on your family. HD is definitely unique to everyone as I don't hear many people living this late with HD, but to also have a step-family with HD is unique. I'm always curious about you or your step-sons view about "I won't test because there isn't a cure". Please stay in the loop on research as there technically are clinical trials available today that are attempting to slow this disease. We don't refer to these as a cure, but in all reality that word shouldn't be used for any condition, let alone HD. Thanks for reading and best of luck with UCONN Health team. Stay in touch...