Genetic Testing - Forum

RE: Genetic Testing

Saija — Mon, 11 Jul 2022 13:20:30 +0000

My mother was diagnosed with HD in 1996. She was the first in our family to be diagnosed.
Some time after our mother's diagnosis, me and my three siblings went to the genetics clinic. There were nice people who seemed to understand a delicate and complex situation, where there is a hereditary disease in the family and the risk of inheritance is 50%. At the clinic, the family tree was filled in and we got information about the possibility of a genetic test. As we learned more about the disease, it turned out that it was very likely that my grandfather had also had Huntington’s disease, but at that time, it was not yet possible to diagnose it.
A year after, when I was 24 years old, me and my sister went to get the genetic test. I didn’t think my decision to get tested long enough or had the slighted idea what consequences the result could have in one’s life.
We had to wait for the result for many weeks. We were advised to take with us a friend or a spouse (other than a sibling) when getting the results. I cried the whole night before. I went there with my boyfriend. When the doctor said the result was “negative”, I didn’t understand what it meant.
My sister went a couple of days after me with a friend of her. We knew the time when she was supposed to have the appointment. The day passed and we heard nothing of her. Eventually we reached the friend who was there with her. She told us that my sister had vomited right after stepping out of the hospital door. Her test came out positive.
My other two siblings had children already at the time of the diagnosis of our mother. I believe it influenced their decision not to get tested. My sister who was tested positive, gave us the impression that everything was fine and that she was ok with the result. In retrospect, I believe she felt herself very lonely.
Among us siblings, were able to discuss the illness and care of our mother quite well, but clearly the situation in our generation and individual decisions on testing were too difficult topics to discuss. Some of us wanted to completely rule out the idea of their own risk, while I found it difficult to rejoice in my own status when my sister had tested positive.

RE: Genetic Testing

Anonymous 125 — Wed, 27 Apr 2022 14:48:04 +0000

This is what Vida C. had to say about this topic in the Spanish version of this Forum:

Now the tests can be done through the social security, without any cost. Each person is free to do so, knowing the outcome can greatly affect individual lives and each person is a world with different perspectives.

RE: Genetic Testing

Anonymous 125 — Wed, 27 Apr 2022 14:42:26 +0000

This is what Juanma had to say about this topic in the Spanish version of this Forum:

Hi,

I’m from a family that has had Huntington's disease for several generations. Being a direct descendant on my mother's side and having the possibility of inheriting the disease, I decided to go through genetic testing at a private lab to find out if I would develop the disease. I was 42 years old at the time. It was a complex decision. I had the support of my family and doctor who accompanied me throughout the whole process. The result was negative. In my family there are people who have been tested and others who have not. I understand and support any decision made by my family members or any other person facing a similar issue.

Either way, I show them my support and appreciate their courage in facing the situation, whether they take the genetic test or not. In any way, I think it is important to be informed and to have the support of family, friends, and professionals. For that, you need to address this topic and first talk about it with the people you trust.

Warm regards,

Juanma

RE: Genetic Testing

MIke — Wed, 06 Apr 2022 19:42:48 +0000

My journey started 2 years ago. My mom was tested positive, we never expected that, from that moment i collected some information and i was diving in all websites. October 2021, I had my counseling conversation with 2 doctors in the hospital. I made a full overview of my family members, and their HD repeats so they had a clear view of my thoughts and my family members. After 30 minutes the counsellor asked me if I would let me test immediately if that was possible. I answered yes and they gave me the permission to do that. They were convinced that i was able to do the genetic testing and eventually i tested negative. The waiting time in between is hard, but the positive side for me was, I couldn't go back.

RE: Genetic Testing

Dina — Wed, 06 Apr 2022 17:42:57 +0000

To test or not to test. That is the question? A very hot topic in the HD community. No right or wrong answer. Everyone’s story is unique. I will share my story which may help others. My HD journey started in 2008 after my father was diagnosed with HD completely out of the blue. My character was that I immediately phoned my GP to refer me for testing. I was shocked to find out the process. 3 sessions with a genetic counsellor, one month apart, one blood test and then back for the results. In total took about 9 months. I was ANNOYED. I wanted to know. Why make me go thru all this? Now after all these years I have realised this was the right process. Once you open Pandora’s box you can’t go back and close it. I would still choose to test and find out even though for me the the news was a positive test. But the whole process allows you to reflect, consider options you may not have thought of. This process should be offered in every country and sadly that is not the case.

Genetic Testing

Claudia — Thu, 24 Mar 2022 11:56:40 +0000

Here you can share your thoughts, experiences, comments, and questions about the process of genetic testing and genetic counselling for Huntington’s Disease – e.g.,what triggered your decision to test/not to test, how did you handle the different stages of the process, how did you deal with the timeline/the waiting time, who and what was important to you during these procedures, how did you face the test result, etc.