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

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.

Places that overdo the pre testing "counselling" process are truly detrimental to improving the situation regarding awareness/stigma, treatment, prevention and research into treatments for Huntington's disease. Finding out when at risk for this disease is necessary to be able to make informed decisions over either shorter life span or not limiting a disease free typical life span by assumptions of potentially being positive for the gene when not. Any developing treatments and research into this disease depends on persons at risk to have their gene status discovered. Furthermore, were all persons at risk diagnosed in early adulthood it would greatly reduce the births of additional Huntington's disease gene carriers. There is nothing that any pre testing counselling can provide to cushion the inevitable blow of getting a positive test result. Nor was there any cushion when recognition of being at risk for the disease occurred. Yet people will cope and adjust to what they must at whatever capacity they have. Life is fast and the years rush by, it's not that long when many who are positive will commence having some symptoms from the younger years realising being at risk and a need for testing. Not testing won't make the disease go away, nor the knowledge of being at risk (even for some who would be negative). Informed decision making is championed for all important life areas, especially medical decisions. Hence pretending that not testing when at risk for HD is utterly insane, and the excuse of no cure is pathetic today. Going by that logic 90% of medical conditions would not be worth diagnosing, since many can only be treated to various levels, a lot less actually cured. Get rid of the stigma and secrecy around this disease and make testing available on request with the option of some free counselling sessions for those with a positive result. That's when it could be desirable to facilitate the transition of assimilating the news early on. No one knows how they will initially feel the hit of the positive test result in advance. All they can have done is braced themselves to get on with what must be done, the testing so they can make informed decisions over the course of their life, the only control they have over the disease.

My Dad’s Mother and my Dad passed away as alcoholics. My shaking is getting bad now that I’m 40. I am maybe misdiagnosed with a psychosis. And the only reason I’m reaching a possible HD conclusion is that my 10 year old niece has PANZ, we both were bitten by a tick on the back of our neck as toddlers, but I also had osteomyelitis in my heal. Anyway don’t mean to digress or bore, but I am wondering if HD could be a progression of people with the over 30 some number of CAG gene sequence who had Lyme, staff, strep, syphilis. The medical community does not test the many variant strains to document and test against, but only if a blood sample is ‘reactive’.

I don’t mean to overstep my bounds, but if a possible cure for PANZ or PANDA as it is called in adults could keep people with too many CAG gene sequences from developing HD then it would help knowing that HD had a catalyst. Causing some to develop symptoms and others not.

Ever since I saw Ani Difranco play a character in the Hospital with Huntington’s Disease I thought it might be my fate.

Thank you for answering my question about what to do next.

Thank you for writing this. When I tried to get information about getting tested I was discouraged by the counselor over the phone. And had I decided to push back and get tested it would mean three appointments and about $1K. Their reasoning was that the suicide rate goes up once people find out, and that people then live their life around being an HD patient, rather than the person they were prior to getting tested who had possibilities and didn't have their life revolve around how a disease would affect them. All in all I get where they are coming from but if they had an affordble mail in test with no barriers I would have used it already because knowing I am at risk due to family history never goes away.

I am the mother and caregiver of a son with HD and who will turn 60 later this year. My ex-husband’s family never shared the real cause of my father-in-law’s condition. I had heard rumors of Huntington’s Chorea as it was then called, and which the family denied. When my son was 10 I obtained a copy of my father-in-law’s death certificate and autopsy reports. Both noted he had HD for 18 years. At this time there was no internet for research, but we did go for genetic counseling and found that there was a 50/50 chance my son would eventually get HD. We were told if his father didn’t get it, my son also would not get it. From the time my son was 12 until he was 36 we had no knowledge of his father’s whereabouts. We found him in 1995 when my son was 36 at which time we also found that he in fact did have HD and was in a local facility.
In 2002 my son was hospitalized and I requested (with my son’s approval) that he be tested for HD, which was denied. A couple more hospitalizations and more requests for testing again were denied. We did start going to the neurology clinic locally, based on the family history and hospitalizations. In 2006 we were finally set up with an appointment according to the HD protocol. The neuropsychologist assigned to us was from another division, someone we had never seen before, or since, and who was very arrogant during his assessment. He told us my son was “not emotionally stable enough to get the results”. I asked him, “if he does have the gene for HD and his depression, etc. is the result of HD, when will he ever be stable enough to get the results in his opinion” and he told us “never”. But I guess he was stable enough to be given that harsh critique to his face. I left feeling more defeated than ever. He later sent a bill for $500.00!
Should he have been given this same response also when, during treatments and testing, because of swallowing issues (due to HD) he was diagnosed with Thyroid cancer? Why was he stable enough for that diagnosis?
I began searching worldwide to see if he could be tested elsewhere and found the same protocol in effect everywhere. I had a friend that is a judge and he was willing to write and order to test him and found that it would not be accepted or honored.
Finally, in 2008, the neurologist that we were seeing understood our frustration and was understanding enough to get him tested without the ‘protocol ‘ interference. We were put through 6 years of anxiety and frustration to get the results we knew in our hearts would be, that yes he did have HD, and which did also answer a lot of questions about his demeanor during that time. Now we live one day (or hour) at a time, the best we can!

This article was right on target with situations all true to life .

Honestly, I think HD testing is a money grab by places that have a monopoly on the process. It cost well over $1,000 with no one quite sure of the price up until the time of each visit. They made me wait months for appointments, all during the weekday so I had to miss work. The testing programs act like the worst thing in the world is to get HD. Life is so much more complex and beautiful than one diagnosis!

I am so sorry that the process was so difficult for you and your family. I am glad that you have each other for support.

Hi I totally agree with everyone personal statements. My father has HD, I have recently become is caregiver at that age of 21. It’s been a rough process, very limited resources, very uneducated doctors and Heath care providers. As a nurse it baffles me what incompetent the our health are system is. Getting treatment and are is so complex. It is already hard enough having HD but having to deal with a faulty system of ignorance and disrespect by health care workers is just sad.

I’m only 21 and a new nurse I recently tried to get test of HD. Denied for many different reasons fist lack of education from doctors about this disease secondly as many have written it costs money. I been told why do you want to know? Your to young. You probably don’t have any symptoms. So what’s the reason. It’s my right to know. How are we going to advance in learning more about HD if the few that are willing to get tested are denied.
People need to be educated about HD, testing should not be denied to anyone. We all have the right to know.
It is very frustrating. I have Yet to be tested.

Carlos - just reading this article from a few years ago. Amazing points that you unfortunately had to have experiences with, twice! I forget if we've talked about this, but I have been working tirelessly and making progress ot launch HD Gene Co in 2022 which will streamline this process based on what is best for the patient and not "the system". Costs, timelines and the counseling experience will all be streamlined to offer people a similar experience regardless of where they live in the USA. www.hdgeneco.com/