The Hurdles We Faced with DNA Testing for Huntington’s Disease

The Hurdles We Faced with DNA Testing for Huntington’s Disease

Second in a series. Read part one.

Based on the number of television commercials touting DNA testing, finding out information about one’s genes has become de rigueur these days. As I mentioned in my last column, however, when there’s the possibility of having inherited genes that might cause havoc to one’s health, a genetic test could represent an emotional land mine.

My father-in-law had Huntington’s, and my wife, Jill, was involved in his care, so she is knowledgeable about the disease in a way that most people aren’t. Last year, when she said she wanted to get the genetic test done but was having a hard time making the appointment, I said I would take care of it. How hard could it be? I see commercials every day about mail-in genetic tests. You swab your cheek, send it to a lab, and get your results within a few weeks, right?

Wrong.

The test must be prescribed by a neurologist who specializes in Huntington’s. These doctors, for the most part, are located in large cities, which means you have to travel there. Once you start the process of genetic testing, you must meet with a neuropsychologist, a social worker, a psychiatrist, and a genetic counselor. This is a nonnegotiable process. It is meant to be helpful for patients, but for us, it felt more like we had to defend her decision to be tested.

They also wanted to know how you will handle the news if you have the disease. Jill said that she didn’t know how she would react. Honestly, she didn’t want to think about it because she was in denial about having Huntington’s.

The reality is that the possibility of the disease causes people to put a lot of thought into their futures. Jill estimates she thought about it at least 10 times a day before she felt like she was possibly showing symptoms, and that number tripled after she noticed small “twitches.”

It took a lot for her to decide to go ahead with the genetic test, but when she was ready, she was ready. For the past 20 years, ever since her father was diagnosed, she has read, researched, talked, and thought about it enough. She wanted to know — we wanted to know — right then.

That was not to be.

We were surprised by the fact that there were so many hurdles in the way of getting an answer to a question about her health. I wonder if tests for other illnesses require the same level of scrutiny.

This is a legitimate point that our 22-year-old daughter has been pondering lately. Our daughter is a bright, talented, beautiful young woman. She is someone who has spent her life knowing and understanding the implications of the gene and the possibility she could test positive. She has done so much research on the subject she could probably write a book on it (and that’s not just a father bragging).

Our daughter was scheduled to have the genetic test done on April 1. Remembering how exhausting and upsetting it was for my wife and me, we asked if she could opt out of meeting the entire team because she has not been showing any symptoms. What could they accomplish, we wondered, by having her go through the same process as someone who is presenting with symptoms? The answer was no, she could not, because that’s their policy and it is “to benefit the patient.”

When we talked with our daughter after her appointment, she said that she felt as if the policy were more important than the patient. As helpful as it is to have a supportive medical team, it’s more important to remember that your care should not be one-size-fits-all.

Our daughter pointed out something we never really thought about. She said that things are different now; we aren’t living 15 years ago, which is when she witnessed her grandfather dying from the disease. Today, genetic testing is common. Back in her grandfather’s day, it wasn’t. My wife and daughter wanted a simple answer to a straightforward question: Did they have the disease? Instead, the process to get the genetic test was emotionally grueling because of all the people you have to talk to — even though no one knows whether you have it or not. Living with the thought of possibly having Huntington’s is cruel enough, so why make it even more of a burden with all the hurdles?

Ultimately, what I felt throughout seeing my wife and daughter be frustrated by a system chock-full of protocols — and what they felt, as well — was what many families facing this disease’s deadly possibilities have felt. We were overwhelmed by a lack of control over the situation, and this is the curse of facing a rare disease: a sinking feeling of helplessness.

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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 Services, and are intended to spark discussion about issues pertaining to Huntington’s disease.

2 comments

  1. mom says:

    We had a similar experience, the process for genetic testing was traumatizing and less than respectful. It was incredibly paternalistic. The process of having to meet with many strangers after traveling hours was not helpful. In the end, we compelled our family physician to find a way to order the test. She already had a therapeutic relationship with my son, and did just the right things, referred us to a neurologist, and helped us secure counseling locally. This article helped so much to affirm my experience. When did doctors, counselors etc get to decide how and when an individual gets medical information about themselves? I feel certain that the HD communities are well intentioned and helpful to many. But encouraging self determination is the beginning of respect and they missed that bar by a mile with my family.

    • Carlos Briceño says:

      What you wrote really resonated with me because everything you shared is what we felt too. I feel for you that you were traumatized and dealt with paternalistic attitudes. What a blessing that you had a caring and understanding physician who was able to do an end around. We are hoping that talking about this and bringing this to the world’s attention, through this column, might be able to influence and change some minds and policies so that a one-size-fits-all picture might be reconsidered and is not the only lens that the medical community focuses on when trying to help people who potentially might have Huntington’s. I realize this might be a pipe dream, but this is a legitimate subject that I hope leads to some legitimate conversations among leaders in the HD communities, all of whom we respect because they are trying their best to help families, but if that is their intentions, then surely we have a right to be understood in terms of, as you so articulately put it, self determination and respect. My prayers go out to you, your family and your son.

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