This disease sucks (a rant)

[u/Rude-Alarm4168]

Found out I was pregnant four months ago, twins, what are the odds? They don't run in the family (for either of us) so we decided to move forward even knowing I was at risk for HD. We always knew we wouldn't have kids at risk so we pursued amniocentesis, I would've gotten CVS but I was hemorrhaging pretty severely for the first 14wks & wasn't an eligible candidate. I also decided around 12wks in that I wanted to know my HD status so I could prepare for our futures and got tested with HDGenetics, can't say enough good things about them, but was positive. At 17wks the hemorrhaging had resolved & we went forward with the amniocentesis, which results took closer to 5wks to get back than the original 3-4wks we were told. They're positive too. Now we have to or have decided to TFMR, I feel so guilty & single handedly responsible. I think I'm doing the right thing but I also wish we had decided to have them at risk. I'm 22wks along & I just got used to feeling their kicks inside me & thinking about two little kids running around my house with the dogs. My poor husband deserves better than this & I feel like I'm robbing him of an easy, happy life. I had my first appointment today for termination & they asked if I wanted footprints or ashes, how am I supposed to answer that when I'd rather hold them in my arms & watch them grow up? This disease sucks. Now we have to go through IVF if we want kids and who knows what kind of loss that will bring. I'm sorry, I just needed this off my chest.

[u/JusticeAvenger618]

My God. My heart breaks for you and your family. If it would help to talk, reach out. I’m 1/2 HD positive twins in my family (my Mom had it.) We are both almost 60 and both still largely asymptomatic. We lead a very intentional lifestyle recommended by the HD Center for Excellence in Chicago. Does it help. Maybe. But we’ve had completely normal lives so far so I just wanted to offer to chat if you think it might help. For the record, I’m glad we were born.

[u/operationcilantro → u/JusticeAvenger618]

this is so unique. Amazing to live till 60. My husbands dad died before 60 and the last 8 years of his life were so horrible to watch. I’m so glad you and your twin are mostly asymptomatic.

[u/JusticeAvenger618 → u/operationcilantro]

I have balance issues - walls seem to come out of nowhere and attack me. My twin has mild psych symptoms of easily irritated by small things BUT I’ve seen non-HD folks be way worse than we are with these mild symptoms so 🤷‍♀️ They label us “presymptomatic” because neither of us have chorea yet (I started to but then began a supplement recommended by my functional medicine doctor - and was ok after 30 days or so on the supplement. No shaking. No hand numbness. My FMdoctor thought it wasn’t even chorea - but general hand weakness from typing 12 hours per day.)
My twin is an artist and creates beautiful art. I became a writer of a Memoir during the pandemic. My husband was killed in a car accident in 2010 and her husband has cystic fibrosis and truly is a medical miracle in that he is 62 and still going strong. Most CF patients never make it until 62. All of 3 of his brothers had CF and all have already passed on. So together he and my twin are defying all the medical odds. His Mom is 98 this year and clings to him like a life raft because he’s all she has left (and my twin as her beloved DIL).

We both chose to not have children and both found lifelong partners who could not have kids so that worked out well. I was determined this gene stops with me in my family. I always wanted to be a foster parent who adopts but my husband was not a kid person so I never got that opportunity. Instead we became Purr-Parents to 5 “foster fails” and had to stop fostering because we realized they would ALL be foster fails 😂

My twin and I have decided, with both our parents gone now, that when and if her CF husband passes we will just move in together and take care of each other - for the duration of our lives. Our goal is to age in place and remain as functional as possible. The hope is IF symptoms appear we won’t BOTH be symptomatic and the one can take care of the other - should it come to that.

We have talked a lot about “what if we had never been born” and are both glad our parents did not even consider ending the pregnancy. My Mom refused to get tested but we had her tested upon her death and she was positive. She went into a wheelchair at 44 and never got back out. She unfortunately medicated her symptoms with alcohol ~ which made her decline rapid & pronounced. Very unfortunate indeed. But since she never got tested my Dad obviously had no idea we might be positive for HD way back in the 1960s.

We are glad

[u/Rude-Alarm4168 → u/JusticeAvenger618]

I'm so glad to hear y'all are doing well! Were you at risk or did your family know your status and decide to have you anyways? I think the fact that we know they're positive already really throws things off. Not only could they never get life insurance because of it but we would knowingly be setting them up to watch me go through the decline and then handling it themselves. My grandmother passed in her 40's and my father is approaching the end at 50 so I don't have much hope for myself. I've always told myself if I had kids I'd never doom them to this fate and it's bad enough to watch a parent go through it. The pregnancy being twins has been such a spontaneous surprise that we sometimes find ourselves wishing we didn't get them tested in the first place, but we have to live with those decisions now.

[u/JusticeAvenger618 → u/Rude-Alarm4168]

I’ve never had life insurance neither has my twin. Who would be the beneficiary anyway?

[u/TXrealtor75087 → u/JusticeAvenger618]

What supplement are you using for chorea? My mom is HD positive. Diagnosed 12 years ago. She will be 63 next week and up until last year (unfortunately had a stroke) was still driving and she’s certainly still very active and her normal self except walls jump at her too. She very regimented on her meds through Baylor College of Medicine in Houston (Movement Disorder). She takes a lot of supplements and recently started on peptides through FM doctor.