Would You Want to Know If You Have Huntington’s?

Would You Want to Know If You Have Huntington’s?
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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.

B.J. has played a role in the Huntington’s disease (HD) community since his mom’s diagnosis in 1995. He and his family hosts an annual Hoop-A-Thon fundraiser that’s helped to raise over $1 million for the HD Society of America. BJ co-founded the HD Youth Organization, an international non-profit helping young people impacted by HD. He’s served as its board chairman for over 10 years. Professionally BJ has been working in the pharmaceutical industry for the past 10 years in various positions. He tested negative for HD, but remains committed to supporting the community and hopes this column will bring positive energy into many people’s lives.
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B.J. has played a role in the Huntington’s disease (HD) community since his mom’s diagnosis in 1995. He and his family hosts an annual Hoop-A-Thon fundraiser that’s helped to raise over $1 million for the HD Society of America. BJ co-founded the HD Youth Organization, an international non-profit helping young people impacted by HD. He’s served as its board chairman for over 10 years. Professionally BJ has been working in the pharmaceutical industry for the past 10 years in various positions. He tested negative for HD, but remains committed to supporting the community and hopes this column will bring positive energy into many people’s lives.
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6 comments

  1. Allyson Button says:

    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 says:

      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!

  2. Barbara says:

    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 says:

      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?

  3. Serge says:

    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 says:

      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!

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