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Huntington's Disease: A family's struggle with testing

If you are sick it would seem unimaginable that you could not be tested and get a diagnosis and then be helped medically for whatever ailment you are suffering with.

So imagine for a moment that you are exhibiting symptoms of HD and your blood is rejected and told that your doctor cannot order this test and your blood being set on the backburner, ignored.

This is what is happening to a Nova Scotia family and has not happened only once, but twice.

Let's go back to 2009. My wife Sheila was in midstage HD and one of her symptoms was anosognosia so she was unaware of her symptoms, as severe as they were. She had always refused to get tested because she believed she didn't have the disease therefore no reason to test. There were moments of clarity however and one day I was able to convince her to go in and be tested. I called the doctor's office and he had the paper for the test ready for me when I arrived. We went directly to the hospital and the blood samples were taken and sent to the IWK. A few days later we received a call from the IWK in Halifax telling us they could not test the blood without informed consent. Her moment of clarity had passed and she refused counselling saying that she already gave consent when she gave the blood and did not want to go under any more scrutiny. Eight years later, when our doctor told us that she would die within hours, I managed to get the ability to make her decisions (which had continuously been denied previously), and I gave the go ahead to have the sample of blood taken eight years before, tested. Of course it was positive. But that lack of a diagnosis created many problems that were a detriment to her health as well as the health of her spouse and children. It ruined our lives.

It is now 10 years later. Our son Malachi is now 19 years old and has been exhibiting HD symptoms for a couple of years, including swallowing issues, anxiety, OCD just to name a few. Our doctor again gave us a requisition to be tested for HD.

We went directly from our doctor's office to the hospital where we were told that this test cannot be ordered by a primary care physician even though he has been the doctor who has watched as our family sank into despair for years. He is a widely respected doctor and is loved by our family.

I managed to get the blood sample taken but as soon as it got to the lab they called our doctor informing him that they were rejecting the sample. Somehow, he managed to stop this and the sample was sent to the genetics department at the IWK Health Sciences Centre in Halifax, Nova Scotia.

They sent a letter to our doctor which stated that they felt predictive testing for him was "inappropriate". We have not once asked for predictive testing. He was being tested due to symptoms that need to be investigated, and since his mother has a diagnosis of HD it would seem very appropriate.

In a session with a well known doctor with 40 years experience with HD I was told that "if you asked me if your son could have HD, I would have to say yes, he definitely could".

We live in a rural area and there is only one neurologist so to get an appointment with him would be a long wait; possibly a year or more. This time frame could be the difference between him walking and not being able to walk. He has pain in his lower limbs. Is it the beginning of dystonia? A question that we cannot get answered without a test.

I called the IWK genetics department on January 7 and they refused to talk with me so they talked with my son and told him that his blood most likely would not be tested until 2020 or later and were very stuck on the words "predictive testing". They would not help him.

I have not given up.

On that same day, January 7, I called our local MLA, John Lohr. I've known him all of my life and we were in the same class in school for many years. He returned my call promptly and has drafted a letter to the Nova Scotia Minister of Health pleading our case and in the event that this does nothing my son and I will be at the Nova Scotia Legislature with Mr. Lohr to ask him in person why he cannot be tested. I also received a letter from Cindy Moore, President of WeHaveAFace Canada voicing her concern in this matter which was forwarded to John Lohr as well.

In most places it takes about three months for a test. In Germany it is 8-10 days. If I had cancer I would get tests done by my doctor and in the event of a positive test I would be sent to a specialist for treatment immediately. If I had an STD I would be tested and treated immediately. If I was a woman and wanted an abortion I could have it immediately as it is seen as her body and it is between her and her doctor. And yet with HD we have no right to an immediate test and then be sent to a neurologist to see any treatment options, even if it's only for symptoms.

My son has HD, my wife has HD. I see the medical community as people who are forcing cruel and unusual punishment on us for no apparent reason other than to torture us even further.

We are an HD family. We know what HD is and what the repercussions of this disease are. We don't need your roadblocks. We just need your help.


2 opmerkingen

Kevin Jess
Kevin Jess
10 jan. 2019

Thank you Dr. Lange. We are fighting this and hopefully make a change for everyone


Herwig Walter Lange
Herwig Walter Lange
08 jan. 2019

Kevin, so sad to read all this - what You and Your family had to go through because of ignorance of players in the medical system. As You wrote - they hurt You and Your family. That is why advocacy is so important. If there are rules or regulations that are not in the best interest of HD-families, we must fight to overcome. Let me know, if i can be of help for You or Your family or Your fight. All the best to You, and keep up Your fight for HD-families and against HD and unnecessary obstacles! "We shall overcome" - yes, we can and thus must!

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