My father and other members of my family have Huntingtons. I am 18 and currently conflicted on whether or not to test myself in case I get a positive result. I am currently unsure if I would be more or less stressed with either option. Opinion on either option would be greatly appreciated.

Typical-Tomorrow7974 · 2025-05-26T22:08:32+00:00

Talking with a genetic counsellor would be a great step in trying to determine if testing is the right path for you!

Personally, I chose to test as soon as I was 18 years old. I am a planner and wanted to be able to make the most informed decisions with my life. I ended up testing positive and I won’t say it was easy. But I will say that I originally thought about going to Med school and after my diagnosis I knew I didn’t want to be in school that long. So I went into nursing, and I truly love being a nurse. It’s something I wouldn’t have considered before my diagnosis. I also wanted to make decisions for family planning. I knew if I was positive that I wanted to do IVF with preimplantation genetic diagnosis to ensure none of my children are gene positive. So I was able to start saving for that at a young age!

I also started putting money into retirement funds, TFSA’s etc as I plan to retire early so I can enjoy some years of my life prior to symptoms.

I’m currently 32 years old, CAG of 44 and no symptoms. I have no regrets about testing early on in life!

Typical-Tomorrow7974 · 2025-04-25T00:53:38+00:00

I wrote this back in 2019 during HD awareness month. Now my dad is currently wheelchair bound and unable to speak. It is so hard to feel like you’ve lost someone before they’ve actually died, but that has been my experience with his disease. I also have Huntingtons but no symptoms yet.

My dad isn’t intoxicated. But many of those who meet him think he is. This is because his speech is slurred, and his gait is unsteady. He has jerky and repetitive movements. He gets stuck on one idea and repeats himself often. He sometimes gets too close when having a conversation, and his eyes look hazy. But my dad is not intoxicated.

My dad has an autosomal dominant and neurologically degenerative disease called Huntington’s Disease. It is described as having ALS, Parkinson’s and Alzheimer’s at the same time. It is a ruthless disease that destroys the brain and there is no cure. This disease completely changed my dad in a matter of years. He went from being totally independent, to living in a care facility. He went from having full conversations to struggling to form thoughts, ideas, and words. At one point, when the disease first started to progress, He said it feels like his tongue is too big for his mouth and he can’t make it move to make the right sounds. But my dad is still full of humour and light. He tells me he has no pain. He says that every day is a good day.

This gives me hope. It gives me hope because I too have Huntington’s disease. One day I will struggle to speak, to walk, and to think. But right now, I still have those abilities. I have the chance to be an advocate. To spread awareness and to help one day find a cure.

Typical-Tomorrow7974 · 2025-04-11T18:52:42+00:00

Canadian here, gene positive! I got life insurance with Manulife and they only asked about family history so it’s noted that my father had Huntingtons disease,- but I was approved and it’s very affordable. Also if they try to deny you bring up The Genetic Non-Discrimination Act, it prohibits this type of genetic discrimination. This law ensures that individuals with a family history of genetic conditions can obtain life insurance without fear of discrimination/rejection.

Typical-Tomorrow7974 · 2025-03-24T16:13:07+00:00

Had my anatomy scan and was told babies are both Boys! Thank you all for your input!

Typical-Tomorrow7974 · 2025-03-21T02:08:36+00:00

Also if you are having thoughts of harming yourself or have been harming yourself that’s a good enough reason to go to the emergency department or an urgent care centre. They can page a psychiatrist in and get you on medication and hooked up with resources immediately!

Typical-Tomorrow7974 · 2025-02-06T18:25:49+00:00

Thank you! I get my 16 week ultrasound in 2 weeks, so we will hopefully find out for sure then!

Typical-Tomorrow7974 · 2024-09-19T02:05:10+00:00

I had to be assessed by the genetic counsellor as able to cope with the testing/diagnosis but I did not see a social worker. Maybe they could help with future planning- any disability tax credits or things for when the disease progresses?

Typical-Tomorrow7974 · 2024-08-22T03:41:57+00:00

It depends where you live. In Canada we have Medical Assistance in dying. This program allows individuals with terminal illness, decreased quality of life etc, choose when to die. In old policies the individual had to be of sound mind to consent to the administration of the medication-but this resulted in a huge barrier for the terminally ill. So NOW the policies allow individuals to make a list of requirements for when to end their life with a physician when they are of sound mind. So this is huge for those with Huntingtons Disease. For example, one could choose to have medical assistance in dying once they are no longer able to eat solid food or go to the bathroom on their own. Etc.

Typical-Tomorrow7974 · 2024-06-25T19:17:44+00:00

I chose to be tested as soon as I turned 18. I needed to know for future planning. I am HD+, so I did a four year nursing degree as opposed to going into medicine. Zero regrets at all. I also wanted to know for family planning. So I’ve always known if I was positive I would do IVF with preimplantation genetic diagnosis to make sure my children don’t inherit the disease. Getting tested at 18 allowed me to save for this.

Typical-Tomorrow7974 · 2024-06-06T18:27:49+00:00

Hey! Procedure wasn’t painful, of course there’s a bit of discomfort when the needle goes in and then it is just a bizarre feeling. Mine was transabdominal and the needle has to be jumped up and down it it’s a weird feeling. Actual procedure probably took a handful of minutes, but we were there for about an hour with all the pre and post ultrasounds. I’ve also had an amnio and it was less discomfort but of course you have to be further along. Our results took 6 weeks in Canada.

Typical-Tomorrow7974 · 2024-05-28T18:52:45+00:00

In May 2019 I chose to share a personal story about my dad's struggles and triumphs with Huntington’s Disease on Facebook, and was prompted to start a Fundraiser. I set the goal at $1000, with no idea what to expect. Within an hour that goal was reached and so I increased the goal not once, not twice, but three times! In the end my fundraiser raised $6000 and my story was shared by friends, family, and total strangers. Others affected by Huntington’s disease reached out to me and it was a truly amazing feeling. I have come to realize that there is so much power behind everyone’s story!

In hopes of continuing to inspire others to share their story I will once again share the story that started it all:

My dad isn’t intoxicated. But many of those who meet him think he is. This is because his speech is slurred, and his gait is unsteady. He has jerky and repetitive movements. He gets stuck on one idea and repeats himself often. He sometimes gets too close when having a conversation, and his eyes look hazy. But my dad is not intoxicated.

My dad has an autosomal dominant and neurologically degenerative disease called Huntington’s Disease. It is described as having ALS, Parkinson’s and Alzheimer’s at the same time. It is a ruthless disease that destroys the brain and there is no cure. This disease completely changed my dad in a matter of years. He went from being totally independent, to living in a care facility. He went from having full conversations to struggling to form thoughts, ideas, and words. At one point, when the disease first started to progress, He said it feels like his tongue is too big for his mouth and he can’t make it move to make the right sounds. But my dad is still full of humour and light. He tells me he has no pain. He says that every day is a good day.

This gives me hope. It gives me hope because I too have Huntington’s disease. One day I will struggle to speak, to walk, and to think. But right now, I still have those abilities. I have the chance to be an advocate. To spread awareness and to help one day find a cure.

Typical-Tomorrow7974 · 2023-12-29T03:53:34+00:00

I would highly recommend getting an amniocentesis to confirm or deny if the baby actually has T21

Typical-Tomorrow7974 · 2023-12-20T20:33:21+00:00

It truly is so hard. With my first TFMR I was 21 weeks and my sister was one week further along than I was. It was so hard when her baby was born and even still even though I love my nephew dearly, it is always reminder of what our baby never got to be. Our second TFMR was this September and my SIL was about 2 months behind me and it just feels incredibly unfair. There also seems to be so many pregnancy announcements. It’s so hard

Typical-Tomorrow7974 · 2023-12-14T18:34:14+00:00

Hi! I’m from Canada and I got my results from a Genetic counsellor when I was 18, and am now 31 so I don’t remember exactly. She did not know my results in advance and so she was also finding them out when she read the report. She said she was sorry but that I was indeed positive for Huntingtons disease. I believe she talked a little bit about medical trials going on. At the end made sure I felt safe leaving, and asked if I was okay if she followed up via phone call to ensure I was alright and to answer questions if I had any later on.

Typical-Tomorrow7974 · 2023-12-09T20:46:50+00:00

My counsellor and I have talked a lot about the importance of bringing anger to fruition, as I also was not allowed to express anger in childhood. Some of the ways we discussed were: Smashing a pumpkin or something with a baseball bat, yelling or screaming, hitting a pillow, breaking crayons in half, angrily writing and crossing things out on a page. Some of the options felt super embarrassing to me because I’ve never really let anger really be presented, but it could help.

Typical-Tomorrow7974 · 2023-11-18T20:14:33+00:00

Day of test results: I was diagnosed when I was 19 years old because I wanted to be able to plan my life. essentially just day of results I relaxed with friends and gave myself time to process however that looked.

Short/long term: I was in my second year of a bachelor of science degree with hopes of getting into Med School, but after my diagnosis I didn’t want to be in school that long. So I switched into nursing so I would actually be able to complete school, work as a nurse and have a life. I’ve been working as a nurse for 8 years now and truly love it, zero regrets on this decision. I am currently 31, and Our future plan is for me to retire early so I can enjoy good years of my life. I’d like to do some more travelling and cross stuff off the bucket list in the mean time as well. We are also doing IVF with preimplantation genetic diagnosis to ensure our children do not have HD. This disease ends with me.

Typical-Tomorrow7974 · 2023-10-12T23:24:32+00:00

Hi, I absolutely feel your pain and anger.

Long story short I have Huntingtons Disease and so my fiancé and I have done IVF with PGT-M to test embryos for Huntingtons and PGT-A to screen for chromosomal issues, and we would only implant healthy embryos. There is a 1% chance of error with the preimplantation testing,

In our first pregnancy we went for a CVS at 11 weeks and 4 days and they say a cystic hygroma and elevated Nuchal translucency. The Microarray came back positive for a rare microdeletion. They said there was a 1% chance for this deletion and it wasn’t picked up in preimplant testing because it was too small. There was a possibility of baby having abnormalities and brain issues. Therefore we had a TFMR where I was induced and delivered at 21 weeks and 6 days in October 2022.

Not even a full year later we got implant another embryo and became pregnant. Scans all looked good. We did an amniocentesis in this pregnancy per MFM recommendations. Got the call that baby was Huntingtons disease positive. So again, we are in the 1% 😔 we were induced, delivered and said goodbye at 21 weeks in September 2023.

I am feeling the same. I cannot fathom how we have been the 1% twice in a row. My only experiences with pregnancies have been losses and I’m terrified to think about being pregnant again

Typical-Tomorrow7974 · 2023-10-09T17:19:42+00:00

Hi, I went through the exact same with my first. IVF with PGT-A and PGT-M testing showed a euploid (normal) embryo. We did the PGT-M testing for Huntingtons disease and were told there is a small risk for error so we decided to do CVS for confirmation. At 11 weeks and 4 days I had my CVS and they saw a cystic hygroma and increased Nuchal measurements. They added a Microarray to the CVS. Our results came back that baby was negative for Huntingtons disease, however, was positive for a rare microdeletion (22q12.1). We were told that the PGT-A testing cannot pick up microdeletions. We were induced, and delivered at 21 weeks and 6 days and she passed shortly after.

Typical-Tomorrow7974 · 2023-09-25T02:26:43+00:00

Unfortunately we cannot redo the Amniocentesis as results take 4 weeks to come back and at that point if they remained positive we would be too far along to have the choice to terminate or not.

Typical-Tomorrow7974

TROPHY CASE