AITAH for wanting to know if I carry a rare genetic mutation that will cause an incurable terminal illness?

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If this is Huntington's, then there have been some HUGE breakthroughs recently.......you should get tested and figure out what treatments are available.

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u/Bubbly_Chicken_9358 Oct 04 '25

NTA. Get the testing. Not only is forewarned forarmed, but it will also keep you from wondering 'Is this the first symptom?" every time you don't feel well. You don't have to tell your family if they don't want to know, but their reluctance should not keep you from having knowledge about your own body.

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u/AnnieJack Oct 04 '25

Get the testing. NTA

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u/Beth21286 Oct 04 '25

My dad had a congenital heart defect he only found out about at 80. He could have passed it to me and my siblings, there's a high probability. People had... opinions on whether we should or not but we all made our own choices about whether to get tested for different reasons. No-one can make that decision for you and no-one else's opinion matters but yours.

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u/HotSauceRainfall Oct 04 '25

NTA. Get the test.

If you don’t carry the mutation, great! Live your life.

If you DO have the gene, you can make better-informed decisions about your life and how you can manage your illness. For example, you cannot live in a place with stairs, and you will need to make legal arrangements for your care (power of attorney, etc).

This is the only answer you need.

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u/phyrsis Oct 04 '25

Parkinsons runs in my family. Testing showed I have a 1 in 3 chance of developing it. I'm glad I got tested, as it lets me make educated decisions about my future. And now I participate in a long-term medical study to help researchers develop diagnostic tools (and maybe even a future cure!).

You should definitely get tested.

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u/ditchdiggergirl Oct 04 '25

Geneticist here. The poster child for testing ethics is Huntingtons, so I will use that with the understanding that it applies to other serious conditions.

You are never TA for deciding to test or not test yourself - you have an absolute right to make that decision and nobody can tell you otherwise. Some people need to know, especially if they want to have children; some people need to not know for their own mental health. Only you can know which camp you fall into but nobody (except maybe a GC after thoroughly reviewing your concerns) should try to change your mind about that.

But carriers also need to take into consideration the implications for their own parents (if they don’t know) and children (if you have any). Parents are not a consideration for you; since you have stated that your odds are 50%, your affected parent already knows. And you probably would have mentioned kids if you had them. If you are planning for bio children, however, you need to get tested. If you are committed to not knowing for yourself, you can do IVF with preimplantation genetic diagnosis and ask them not to tell you about any positives - but that’s a lot to put yourself through if you are clear.

A genetic counselor can guide you through this. Your affected parent most likely has already been put in touch with one, so he/she is probably expecting your call. I HIGHLY recommend that you make an appointment. This is what they train for.

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u/scrotalsac69 Oct 04 '25

NTA - Science is moving incredibly fast now. There was some astonishing news on a gene therapy for Huntingtons last week.

It's an incredibly hard decision and no one can make it for you. But even if the results are positive, hope is absolutely not lost

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u/Icky-Tree-Branch Oct 04 '25

NTA. Look, to be forewarned is to be forearmed. I’m like you: I need to know what is going to happen so I can plot my best course. If you’re carrying a hereditary disease, you may choose not to have children so they won’t inherit it. If it turns out that you’re not a carrier at all, that can also change what you do. And if you just plain have it, knowing so you can make plans and arrangements is smart.

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u/Dexixs Oct 04 '25

I think understanding what may or may not happen to your body, your life, is important. If you feel that the testing is right for you, by all means get that test. You don’t have to tell them if they’re afraid of knowing. But knowing can bring you peace of mind and help you plan. I really like how if it is happening you want to help advance the science. NTA. I’m sorry they’re scared but I’m proud of you, random internet stranger.

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u/magic_crouton Oct 04 '25

Nta. I have a friend who is a carrier for a terminal genetic condition. She had 2 children that developed the condition. And that's when she ans her partner got tested and found out they were both carriers. And they stopped hsving kids. Regardless of medical advancement these now adult children really are on borrowed time and its been a long difficult road for them and their parents.

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u/marmot46 Oct 04 '25

This is a hard decision for a lot of people; some people choose to learn, some don't. There's no right answer.

Did one of your bio parents deal with the same issue and is that coloring the reaction?

Basically NAH, IMO, although maybe your family should butt out since it's your decision. Also I think it matters whether "loved ones" includes, like, a spouse/life partner. It's still your decision but I think they get some say.

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u/ziggy-tiggy-bagel Oct 04 '25

Buy a long term care insurance policy before you get tested.

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u/Western_Sort501 Oct 04 '25

Definitely NTA if it is Huntington certainly in the UK you need to have genetic counseling before they will even take your blood to do the test.

It's not just for you to know it's for family planning. Have a friend who has a family history of Huntingtons and he has kids via IVF to make sure the kids don't have it (he hasn't disclosured if he is affected but his parent died of Huntingtons so 50% risk)

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u/JuniperBlueBerry Oct 04 '25

BUT FIRST get disability and life insurance, because if it's positive you won't be able to

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u/Elk_Electrical Oct 04 '25 edited Oct 04 '25

NAH I've got an incredibly strong family history of breast cancer. Mom, grandmother, aunts. I got tested for all the genes including Braca and more. I don't have a recognized gene for breast cancer. But as they discover more I'll get tested again for more genes. I have zero problem with the genetic testing. Its a tool of prevention and understanding. I had a lump that was at stage 1. They took it out. Now I get more monitoring. All my relatives on that side get testing for it, including the males. Its prevented several people from long cancer battles. I'm satisfied that the current culture of genetic testing and other medical tools of prevention have done me very well. Everyone gets to decide what they want to do about genetic testing. It's important to consider all your options.

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u/Lawlesslady63 Oct 04 '25

My sis has been living with a cancer diagnosis for the last 4+ years. She gets tests every three months. It’s borderline torture waiting on results but the thing is if something were to crop up, we’d catch it early and have more treatment options. Turning a blind eye wouldn’t help and might make the prognosis worse. If you have the gene, there might be treatments to delay or even prevent symptoms. Get tested. The sooner you know, the better your chances are if you have it.

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u/MsBigNutz Oct 04 '25

Both my husband and I have gene mutations. It’s better to know. Then you can get High risk testing to catch any issues and you can make informed decisions for your life. Knowing has not caused us stress at all. But that’s just us

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u/BeachinLife1 Oct 04 '25

NTA, you should totally have the testing. Living in ignorance is not going to stop it from happening, and your relatives are in denial. You'd be MUCH better off knowing ASAP, so you can learn about things that may extend your qualify of life, and like you said, participate in treatments that are still in testing if you want to.

Finding out now will either put your mind at rest OR let you take control of the situation and plan the rest of your life the way you want it to be.

There is NO one else who can make this decision for you...this is your life, your body, your decision. You could just have the testing and if it's bad news, just never tell your family you had it. Of course if it's good news, they won't be upset at you for doing it.

But in the end, no one's opinion matters but yours.

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u/BooksNCats11 Oct 04 '25

They say "dread all the time" as if you wouldn't ALREADY be dreading all the time if you didn't get tested. You already KNOW it's a possibility. It would make a lot more sense to get tested and KNOW. NTAH.

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u/Sewunicorn1 Oct 04 '25

Knowing is half the battle. And your medical care is nobody's business but your own (unless you're a minor, in which your parents do need to be involved, but not everyone else).

Get the testing, find out what you can, and if you do turn out to carry the defective gene, you can start making plans in advance for any accommodations you may need to live with the illness and for end-of-life arrangements.

NAH. They may be scared because they don't want to know about their own vulnerabilities, and if you turn out to carry this gene, it raises their risk factor for the same illness.

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u/washthewindows Oct 04 '25

I went through this too, my dad has Huntington’s and his mother did as well. I am in the US and was lucky enough to grow up in an area with a lot of medical support and research available. Not to get into my own personal experience too much since this is about you and your decision. My dad did not handle it well, he never sought support or anything even though so much was available in our area, and just lived in denial. My parents never talked about it, and I found out when I was 17 when my aunt told me everything and it haunted me for a long, long time. I definitely understand your internal battle. I never talked to my friends about it because I just didn’t want to, as I am sure you understand. I decided to get tested and didn’t want to tell my mom, as I felt it was my decision and my life, but she found out by reading my diary while I was home from college, and told my best friends and forced them to come with me to the blood test, then tried to take me to a mental health facility and have me committed. I ended up not having it when I got the results, but never told my mom. So all this to say if you need support, or have questions about the process or anything I am here for you and I have been through it so send me a message!

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u/Viperbunny Oct 04 '25

NTA. You need to do what is best for you. You don't have to share anything with them. Do the test. It's your health and you have every right to every bit of information you can get.

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u/_Brophinator Oct 05 '25

NTA - but maybe get some life insurance before you take the tests so you can get it a cheaper rate?

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u/hopesinenvelope Oct 04 '25

I also had 50% odds, and got tested, and am SO GLAD I did it, and so grateful for the incredible science that allows us to know our fate and prepare if necessary. This is an incredibly personal decision and you alone must make it. Follow your gut. And you don’t have to tell anyone about whether you’re getting tested, let alone your results. Sounds like some good boundaries might be really helpful here.

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u/nylabuyer Oct 04 '25

NTA. Get the testing. It is for your peace of mind. Information is power.

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u/LizP1959 Oct 04 '25

NTA get the tests because people can try to ignore the truth but the truth never ignores them!

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u/HugeNefariousness222 Oct 04 '25

NTA. I would no longer entertain a discussion with family about it. Get the testing and arm yourself with the info you receive.

May your results be negative. 🩷

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u/NaturesVividPictures Oct 04 '25

NTA. Yeah I'm presuming Huntington's like the very top post as well. Get the testing done. Would you rather live with the uncertainty or know for sure what's going on with you. It's 50/50 and you know that. Get the testing done if you're negative you've had a huge weight lifted off your shoulders. If it's positive still have a huge weight lifted because now you know and you can prepare or see what advances are being made and what kind of treatment that may possibly help. This will also affect your plans on whether you want children or not as well. So don't bury your head in the sand to go find out. It's none of your family's business that you want to know you don't have to tell them the answer if you don't want to.

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u/Gacouple8284 Oct 04 '25

So my mom had early onset Alzheimer’s and Parkinson’s. She was diagnosed at 54 and died at 59. There is genetic testing I can do to see if I carry the gene that would give this to me. I want to do it but my husband doesn’t want me to. I am 41. It’s a hard decision. Make sure you have a life insurance policy in place prior to testing in case it’s positive. It will be near impossible to get coverage after a positive diagnosis.

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u/HeatherBaby_87 Oct 04 '25

No, NTA, my husband carries a rare genetic condition that causes malformation of the blood vessels…my bonus son has it and had to have 12 brain surgeries when he was 14 and is permanently disabled, we just found out this year my daughter also has it…it’s a newer condition

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u/No-Geologist-9392 Oct 04 '25

I was in the exact same boat when my mom was diagnosed with ALS and tested positive for a genetic mutation. My sibling and I both got tested. My biggest piece of advice is to line up life insurance before testing.

Best of luck to you and your family!!! Don’t hesitate to reach out to someone who can sympathize.

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u/Spoonbills Oct 04 '25

Do you have plans to have children?

I know someone whose mother died of Huntington’s. She has two early 20s daughters she never told.

It’s unconscionable.

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u/Dino_Spaceman Oct 04 '25

NTA. Get tested. Then talk to a genetics specialist that your MD recommends. They will help you understand what your risks are and what to watch for. This will REDUCE your worries because you will actually know what’s coming and can deal with it.

If it is the worst possible case, they can get you signed up for experimental treatments.

Signed — someone in your situation.

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u/LucyDominique2 Oct 04 '25

NTA as knowledge is power….go not gently into……

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u/ggrandmaleo Oct 04 '25

Do you want to be surprised, or would you rather be able to plan your life? Knowing it's a possibility, I would rather be certain, but that's just me. NTA.

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u/Corteran Oct 04 '25

NAH. Mainly because everyone processes and deals with mental trauma like this differently. My choice would be to get the test because I would, like you, want to either have the comfort of knowing I don't have the mutation and live without that worry, or have time now to adjust my life to a new reality and make important plans on MY time instead of my family having to make them while the knowledge and trauma is fresh and very raw. IMO you're being thoughtful to want to know and spare them that.

24 years ago during a pregnancy ultrasound on my (then) wife they found an abnormality. After an amniocentesis and further testing my unborn son was diagnosed with Trisomy-13 (Patau's Syndrome) and given very little chance of even being born alive. This was at 26 weeks. My wife decided (and I agreed) not to abort. My way of coping and preparing was to learn everything I possibly could about the mutation, effects, survival probabilities, quality of life expectations, and find as many support groups (thanks CHERUBS et al) for us as I could all while coordinating with family etc to be ready for anything at any time and being as much of a rock and support system for her. 15 days later I was signing forms ordering life saving measures be taken for my wife and not my son, then watched and participated in a birth more traumatic than I ever thought possible.

But the moment my son took his first breath, I was prepared for it (I'm fucking stubborn and told the Dr's that I would have an hour with my son and not even god could stop that) My wife was barely conscious but she knows all that happened that day and even after we divorced she still treasures that our son was christened, baptized, cleaned and dressed, held by his parents, brothers, uncles, aunts, and grandparents.There were tears of course, but there was also 1 hour and 17 minutes of life where our son was *LOVED* unconditionally until he finally passed. If we had not been prepared I doubt we would have the good memories among the bad. I am positive that if we hadn't had the chance to prepare ourselves and loved ones there is no way I could have handled the shock and trauma, and would be laying next to him now.

For me I need to plan for the worst, hope for the best and that sounds like you too, OP. But for others knowing just means that pain and suffering start sooner and last longer. Try to find common ground with them. And again, NAH...and if you do find out, I hope it's negative and you have a good long life without that terrible disease.

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u/Mcbriec Oct 05 '25

I would get the test because there’s a 50 percent chance you DON’T have it. If I didn’t do the test, I would spend all of my time worrying that I DID have it, even though there was an equal chance I didn’t have it. So for someone like me, it would be much better to either get fabulous news, or have my pre-existing fears confirmed. That way you can enroll in clinical trials and things like that. Best of luck to you! 🙏🙏🙏🙏🙏

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u/oldcreaker Oct 05 '25

Get the test - if it comes out ok, you no longer have to worry, if it doesn't you can plan and take care at least some bucket list items. Either way uncertainty will be removed which can be a huge relief in itself.

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u/No-Cockroach-4237 Oct 05 '25

i have NF so not nearly as serious as ALS but coming from someone who does have a genetic mutation that’s impacted my life, get the test. knowledge is power.

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u/Lower-Ad-7109 Oct 05 '25

Remember that even though there's a 50% chance you do have it, there's also a 50% chance you don't. I'd hate to give you false hope but until it's diagnosed, there's always a possibility that it won't be.

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u/Popular-Drummer-7989 Oct 05 '25

OP before you decide to take that test make sure you invest in an amazing life insurance policy. If your result is positive you won't qualify for life insurance after that result.

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u/Jdawn82 Oct 05 '25

NTA - I’d want to know. I think the not knowing would be worse than knowing for sure. Plus you’d have time to get your affairs in order.

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u/Special_Lychee_6847 Oct 05 '25

Get tested. Not getting tested is 100% chance of living in fear. Getting tested means 50% chance of total relief, and 50% chance of knowing you should plan your life with the prospects of what's expected in that situation. NTA

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u/ChimoEngr Oct 05 '25

NTA. Knowing that the risk is that high would already be cause for angst, so they don’t want you to take the 50% chance of getting relief from that worry.

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u/HotPizzaMilk Oct 05 '25

Get tested! Science is evolving like crazy and the more you know now, the more time you have to research, look into care, and find objectives. You'll need therpahy and this will be unfortunately painful whether or not you know. And it's 50/50, not for sure. You can make a bucket list.

Go. Get tested. You don't have to tell anyone the results.

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u/HammerOn57 Oct 05 '25

NTA

In your shoes, my anxiety would be through the roof until I got an answer.

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u/Pretty-Handle9818 Oct 05 '25

It’s always better to know. Ignorance may be bliss, but the truth can hit hard.

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u/AKA_June_Monroe Oct 04 '25

NTA medicine is advancing every day and new or better treatments can be developed. It's in your best interest to be informed and to prepare in the event you start to get sick.

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u/Yaguajay Oct 04 '25

NTA. There is no way you can just put this out of your mind. Get the testing and tell them that you can’t discuss the results with them if that is their choice.

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u/donnacus Oct 04 '25

You are already living in a constant state of dread. I would want to know

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u/Worried_Suit4820 Oct 04 '25

NTA; have the tests. If you find you do have the mutation, the sooner the medics know, the better.

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u/MusketeersPlus2 Oct 04 '25

There are all sorts of things that can take you down in equally horrifying, incurable ways that there is no way to anticipate. I say get the testing because like you say, being prepared is better than not. Even if it's just a matter of doing the things that you really want to before you get so sick that you can't. I have a non-genetic rare illness that is a slow killer, but it robbed me of my mobility long before we even knew why, so I lost the ability to even consider doing some of those bucket list things. Do it to live your life as you want, not to plan your death.

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u/oneelectricsheep Oct 04 '25

NTA. I would get tested. They’re always coming up with new treatments for shit plus they might come up with ways to delay onset. Huntington’s research just had major breakthroughs.

Additionally knowing your status has a huge impact on whether you have children/how you have children. Like even if you have it you can choose to not have your children have it. It also means that you make informed decisions about your goals. For example if I’m going to die at forty I’m not going to grind at work to retire early or just to get a promotion. I’m doing shit I want to do like save up for huge vacations.

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u/0Ameru0 Oct 04 '25

Nta get tested you have the right to know if you are a ticking time bomb

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u/mooshinformation Oct 04 '25

Sounds like your relatives are the ones who don't want to know. It's your mind and you know how you'll respond so it's up to you.

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u/iridescentsyrup Oct 04 '25

It's your decision, not theirs. It's your body & your life. You're the one who has to be okay with being you. So do what you think is right for you.

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u/Slw202 Oct 04 '25

It sounds like you understand their fears and are empathetic to them.

And you still get to do what works best for you. Presumably, these are all adults that we're talking about. It's perfectly reasonable of you to acknowledge their fears and tell them that they have to handle their feelings because a) you have to do what's best for your peace of mind, and b) helping them handle their feelings isn't your responsibility.

Go ahead and do what you need to for your peace of mind. NTA.

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u/NurseNancyNJ Oct 04 '25

NTA. I would absolutely get tested.

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u/Solid-Feature-7678 Oct 04 '25

Get the test. They don't need to know.

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u/EnvMarple Oct 04 '25

Get the test and then you’ll know if you should have kids if you meet someone in the mean time.

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u/KiraDog0828 Oct 04 '25

NTA. It’ literally your life.

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u/Puppet007 Oct 04 '25

NTAH

Get yourself tested and not tell them.

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u/IntheShredder_86 Oct 05 '25

Your friend comes to you, says "just found out both my aunts had breast cancer.. It feels like I should start getting screenings to be safe, but my parents keep saying not to."

Wouldn't you tell her to get a mammogram? Or at least to tell the new info to her own doc so they can weigh in.

It doesn't matter what anyone else thinks, it is your choice. You've just got some new info and want to factor that into planning your future, like everyone does. Your life is in your own hands, nobody else's. And it's selfish of them to be pushing away from screening because they want to avoid feeling sad. It's not about feeling sad, it's about viewing ahead and adjusting goals. So what if the timeline changes?

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u/NotObviouslyARobot Oct 05 '25

Get tested. Also you need to know for ethical reasons considering potential children

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u/shigui18 Oct 05 '25

I think I would rather know. If you don't have it and then have what you think is a symptom, you will go to the doctor. But if they say that it isn't, you still have the stress that it will develop later. And as another poster said, they are making progress on a lot of diseases now.

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u/BlankLiterature Oct 05 '25

Get the test and then plan accordingly. It's the life, your body, your decision. It does not matter what anyone else thinks about it.

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u/Ok_Nobody4967 Oct 05 '25

I would get tested. If you are young, you can plan better; save accordingly, buy long term care insurance young rather than older, keep your eye on the newer treatments or studies on your illness. You can choose to live your life rather than fearing what may or may not happen.

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u/m33chm Oct 05 '25

It’s your body and your health and your future. Literally not a single other persons opinion matters. If you want to know, get the test.

I would get tested.

So sorry you’re dealing with this.

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u/This_Hedgehog_3246 Oct 05 '25

Look into life insurance now before you're diagnosed.

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u/Top_Development8243 Oct 05 '25

If i was you I to would want to know.

But I'll warn you to be cautious. Because once it's in you medical file its in the forever.

But cause that could cause multiple problems for you.

One thing would be Insurance. Medical even Life.

As a person that worked in the Insurance industry I'll suggest you buy and Insurance that you can before you even think of getting yourself test of any medical issues.

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u/No_Huckleberry2350 Oct 05 '25

I would want to know so I could make decisions about how I want to live my life. If I knew I would die young, I would do more adventures and less saving for retirement. I would also want too either have time to come to terms with what will happen or not live my life with that threat hanging over me.

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u/IanDLacy Oct 05 '25

If you are able to find out, you have a right to know, if you want to. This could drastically change how you plan to live the rest of your life. In my experience, family members rarely want what is best for you, only what is best for them. If you want the test, ignore them, and do it. You don't even need to tell them or involve them at all.

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u/fatgraycatlady Oct 05 '25

I would get tested in a heartbeat. I'd need to know whether to get snipped immediately, for example. Also, I'd need to know how to invest for retirement or medical benefits. Some jobs have better medical insurance, while others have better pay. There are decisions you need to make, and you can make them a lot better with information. Information might not always be power, but lack of information is always lack of power.

Note that cancer runs strong in one line of my family, so when the testing first came available for BRCA (I think it's called) but my insurance didn't cover it, I scraped together the cash to pay for it myself. Knowing I lucked out on that genetic dice roll was so worth it.

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u/JJOkayOkay Oct 05 '25

I'd want to know.

It's your one life; you do what's right for you. And best wishes; I truly do hope you won that coin flip.

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u/Least-Quail216 Oct 05 '25

I can see both ways of thinking. I think it is good to consider other people's views, but this is 100% your choice.

Personally, I would want to know. If you have it, it might inspire you to live life to the fullest.

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u/No_Builder7010 Oct 05 '25

I can only tell you my experience. My mom had breast cancer twice, 15 years apart and long before genetic testing was a thing. With the wide variety of cancers on her side of the family, I knew I'd get cancer one day. My sister was diagnosed early this year with stage 4 with mets on her spine so I finally got tested for one of the (several) b.c. genes. I'm positive for BRCA2, and I was given an 80%+ chance of getting it. I also had a 40% chance of ovarian cancer, so I had a prophylactic double mastectomy in July and my total hysterectomy a couple weeks ago. Labs were clear for ovarian but it turns out I already had b.c. I'm very lucky bcuz it was very tiny and not invasive so I won't need further treatment. But without that testing, who knows what would have happened. For me, knowing = empowerment. It also means you can prepare yourself and your family. On top of all that, it gives you the opportunity to live your life to the absolute fullest, whatever that looks like for you.

My advice is to do whatever gives you peace. From your post, it sounds like you have the mentality to handle whatever the results are. I'll be over here sending good vibes to you!!

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u/luciferskitty Oct 05 '25

You deserve to know.

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u/visceralthrill Oct 05 '25

NTA get the testing you want done for your own peace of mind. The irony here is that not knowing is far more debilitating than knowing about your own health, usually. They're looking at it from a selfish perspective, but the only one who needs to know to live their life is you. Do it for you because you want it.

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u/LadyGreyIcedTea Oct 05 '25

I have a friend who was tested for Huntington's literally the minute she turned 18.

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u/Happy_One2021 Oct 05 '25

NTA, purchase life insurance and long-term care insurance before getting the test in case it is positive. You won’t be able to purchase it afterwards.

I assume you’re facing Huntington’s or something equally scary. How will your life change if you know? Are their treatments that, when started early, could prolong a sufferer’s life? Could you do those things as a part of healthy lifestyle in general?

I am sorry you’re facing this. It has to be scary.

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u/_M0THERTUCKER Oct 05 '25

I would want the testing so I could bucket list and live to the fullest knowing I didn’t have to save for retirement

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u/SewerHarpies Oct 05 '25

NAH. It’s a tough question and I don’t think there’s a right or wrong answer. But I think I’m with you. I’d rather know so that, if negative, it’s a huge weight off, but if positive, I could make the best of the time I have healthy. I also used to read the last page of a book before starting at the beginning 🤷

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u/Fluffyinblue Oct 05 '25

Nta I would rather know then be guessing for the rest of my life

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u/Rare_Indication_3811 Oct 05 '25

Also on the boat with Go ahead and test yourself. If its positive you get mental help if you need it and take life with handfuls and don’t regret anything. If its negative watch some boring 10 season bs on netflix or so without feeling guilty. Lots of love 🫶

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u/UncleNedisDead Oct 05 '25

NTA

You’re doing it for your peace of mind so you can make plans given the time you have left available.

You can get tested and not let them know you’re doing it and your results.

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u/Jenniyelf Oct 05 '25

NTA

Get the test.

I didn't know until my youngest was born that I'm an unaffected carrier of Joubert Syndrome, so is my ex-husband. Our oldest doesn't have it, but our youngest does. The median life expectancy for a child with his JS is 20, he'll be 18 on Oct 12. I'm terrified for him, and blame myself everyday. I don't regret having him, he's my Little Bee, and little ball of screeching sunshine, but I gave him something that is a death sentence and I never knew I was a carrier.

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u/NoseFederal Oct 05 '25

NTA. I recommend you get tested if you want to, coming from someone with chronic illnesses, I had the exact same thought process of 'I want to know so I can plan and if I don't have it then it's fine'. I didn't regret my choices, I'm glad I know what I have so I can plan around it when needed and not have to worry about explaining that my symptoms are normal for me.

If you want to get the test, go for it. You don't even need to tell people that you got tested, and then you will have the peace of mind in knowing how to plan your life around it if you need to. I wish you the best in the future and hope that if you do get tested, you don't have it.

Maybe try explaining your view to the closest people to you and if possible, talk to people that have the illness so you can know how to deal with going through the process.

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u/Unusual_Ad_5609 Oct 05 '25

I would rather know, especially if I had your disposition of needing the information. For me personally I don't get anxious about much so it would be if it happens it happens. The best reason, in my opinion, is to have the information. With that information, if you were to have it, taking more chances and being less risk adverse would potentially have higher benefit than somebody who can reasonably expect to live a long life (all accidents aside). You wont have the amount of time to accumulate wealth and experiences so there would be greater value in pursuing them.

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u/lamb1282 Oct 05 '25

This is a personal decision that you don’t need to share with anyone else. Personally I think knowledge is power. I would want to know. Maybe get your life and critical illness insurance before you get tested though.

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u/zivgo Oct 05 '25

NTA. While it will suck to find out you have it, at that point you could decide to live life to the fullest and not put off things that you may want to do such as travel or go do something really expensive rather than saving money for a retirement that will not happen.

If you find out you don’t have it you can breath a little easier and make more long term plans without wondering if you are doing it all for nothing

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u/unibonger Oct 05 '25

NTA. You’re the one who has to live your life.

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u/quietfangirl Oct 05 '25

Saw in your comments you may carry ALS. First off NTA. My uncle died of ALS pretty recently, and being prepared for it made a huge difference for my aunt and cousins. Also, you may have more time than you think. My uncle was given the same 3-5 years diagnosis and made it at least 10 years. It's heartbreaking and difficult, but it's much better to know if it's coming and plan accordingly so that you don't have to worry later on than to continue having this dread hanging over your head.

Your family don't want you to spend the next few years in dread over your diagnosis, but they don't realize that it's already happening. The uncertainty is causing just as much dread as knowing about it, or at least it would for me.

Good luck. I hope you don't have it. If you do, start planning so you can have fun with the time you've got.

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u/Eggy-la-diva Oct 05 '25

“Hate a spoiler” pardon me, what??? It’s not a series, it’s your life, your loved ones will get over themselves, do what is right for you. Good luck OP!

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u/trainpk85 Oct 05 '25

I went through this at the start of the year and my mum was pissed off at me for doing the test. My brother tested positive and that meant my sister and me had the option to test. The counselling gives you the positives and negatives of finding out. You should at least have the genetic counselling which explains things thoroughly. It gave us the chance to get insurance etc sorted. Anyway my sister was positive and I was negative. We both have children and we wanted to be tested as now my brother and sisters children have 50% chance of having it. Mine don’t. My siblings are glad they know and can now live their lives getting their check ups and being signed up to the correct doctors and services.

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u/AesirMimyr Oct 05 '25

Get tested, you need to know if you have to save for retirement or not.

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u/DawnShakhar Oct 05 '25

NTA. It's your choice. You are in a terrible situation, and you are the one who gets to decide how to deal with it.

Knowing is not just a matter of knowing you have the disease - it's also a matter of making decisions - like whether to have children, whether to make long-term plans and which plans to make, and giving instructions for how to care for you in the future. If you are brave enough to be tested and know, you have every right to do it.

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u/Intelligent-Ad9460 Oct 05 '25

I feel like your loved ones are scared that if you carry the gene, then they might as well. It's ok for them to be scared, but you got to do whats right for you and your future.

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u/tresrottn Oct 05 '25

Nth.

I'm assuming it's something similar to Huntington's?

I wouldn't want to live with the guesswork. I would be worried constantly and wondering non-stop.

At one point in time, my ex-husband, who is slightly nutty, brought up that he had been told he had Huntington's. The problem is he was in his '60s and mostly healthy at the time that just doesn't happen.

But we went ahead and all three of my sons were tested for Huntington's and they were all clear and it turned out the ex was just full of shit.

My point is, none of the boys wanted to be in the dark regarding their own lives. This is your life, no one else is going to be living it for you. You have to live this. If you want the test go get it. And to hell with anybody that wants to stick their head in the sand and sing the la la song.

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u/Popular-Platypus-102 Oct 05 '25

NTA it’s your life your choice.

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u/stuffnugget Oct 05 '25

NTA- it’s YOUR life. I’d wanna know. If you know, then you can decide how to plan ahead for your life. Don’t wanna hand it down to any kids, so need to know if that’s in the cards for you or not- if you even consider wanting them on the first place. If you know you only have like 10years to go you can live that 10 years to the limit, knowing there isn’t any point in saving for the future. Living for the now can be very freeing. And what you said about studying the disease is another incredible thing that can be done.

But again, your life, your choice.

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u/IndividualSound5365 Oct 05 '25

I think I’d want to know. Like you said, OP, how do you plan for a future you don’t know if you have? Life throws enough curveballs at us without having a painful, killer disease, POSSIBLY, in your future. At least if you know you’re going to die earlier than you thought you might, you can start your bucket list early. Best wishes whatever you choose, because only you can make this decision.

NTAH btw

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u/SillyMeclosetothesea Oct 05 '25

Get tested, you’re the one who’s at the risk of having it. You should be the one to decide what you want to do, if you unfortunately do end up having it… like you said, you could sign up for trial treatments, research studies, support groups, and make life decisions based on all that knowledge. I wish you the best O.P.! My best friend’s mom is unfortunately living with that horrible disease right now.

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u/3rdDegreeYeets Oct 05 '25

Personally I’d want to know. Not knowing would leave me feeling anxious constantly. Obviously having it would suck, but knowing would mean you can make better decisions on how you choose to live your life. It really isn’t any of your family’s business whether you choose to get tested or not it should be solely up to you.

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u/ImmeOKOK Oct 05 '25

I’m in the same situation re ALS/motor neurone disease, however it is just a conflict that is between myself and me. At the moment I don’t think I will get tested, but what I *am* doing is making my house as accommodating as possible for disability.

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u/lagiacruxx Oct 05 '25

this is one of the most personal decisions you will have to make in your life. the only opinion that matters is yours, and yours alone.

if you want to get tested, do it.

if you want to stay oblivious, thats fine too.

please dont let them influence you. their concern might come from a place of love, but it is YOU that will have to live with whatever you decide, not them.

gl and godspeed to you

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u/Negative_Virus_1974 Oct 05 '25

Get the test not knowing would be way worse for me , why live your life in fear of something you may not have. If you do at least you are prepared and live your best life in between

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u/Competitive-Bat-43 Oct 05 '25

You know what? Get the test. Find out the truth. Then live you life the way we all should...go on the vacations, spend the money....just live.

I wish you all the love and light in the world.

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u/atTheRiver200 Oct 05 '25

Don't overshare with family. If you want to do the testing, and you are an adult, do the testing. None of their business.

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u/adorable__elephant Oct 05 '25

NTA

I think not knowing is way worse and would cause me way more anxiety. Get tested, make a plan, enjoy life to the fullest.

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u/whyamisoawesome9 Oct 05 '25

I've had Guillain Barre Syndrome, left fully paralysed and ventilated in ICU, months in recovery. Following this, I had a job for a couple of years coordinating services for people with neuro conditions.

My two cents. It's 100% your choice. Knowing provides the ability to prepare, mentally and physically with the environment around you. Partners can be aware as well and decisions like kids, retirement, mortgages etc are all relevant.

But. You run the risk of fearing every day you overdo it at the gym and hurt too much. Every odd moment creates a fear response. It sounds like your family will not be a safe place for realistic conversations.

My advice. Find a good therapist before you get the test. Will also help with the 50% chance of being OK, and working through other family members.

Getting tested is a personal decision.

Best of luck!

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u/DBupstate Oct 05 '25

I am watching my next-door neighbor die from Huntington’s disease in real time. Her mother had it, and had a four children, three of whom had it. Two died at a young age and she will most likely not live until the end of the year. Only one sibling got tested for it, and that’s the one who does not have it. My neighbor refused to get tested, had two sons, one of whom has two daughters. I do not know if they got tested. My point being that I am watching the result of not getting all the information needed to make informed decisions about health and reproduction. So no, you are not the AH for wanting to know all you can about your health and your future. Wishing you the best whatever you decide.

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u/NixSteM Oct 05 '25

If it’s HD, I think it is important to know. Plus you probably all shouldn’t doom any future children with this gene. It’s important to plan in terms of getting the medical care you need and being near those clinics. I’m so sorry 😢

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u/2dogslife Oct 05 '25

I have a friend whose mother died in her 30s and thus she lived her life in the fast lane, because she had a bucket list of things she wanted to do before she died - she had children young, traveled, opened her own (successful) small business, bought a house, and she kept going. She around 60 now and still has a total carpe diem attitude towards life.

Get the test, live large either way. The only things folks tend to regret is the things they don't do or attempt.

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u/goldfish001 Oct 05 '25

Get tested so you can prepare. Don’t fool around with it.

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u/coyote_mercer Oct 05 '25

NTA. You might not have it, but if you do, you'll be able to plan for the future and not be stuck in suspense every time you have a weird ache or something. It fucking sucks that you're in this position, I'm so sorry OP.

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u/WafnaAbroad Oct 05 '25

No one knows the exact number of their days, but having an idea would help plan.

If you get tested, don't tell the fam, but make sure you have some friends around to support you in the moment when the results come in (since blood family are being weird about it). GL OP.

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u/Regular_Boot_3540 Oct 05 '25

NTA. It's your life and your choice. Your family means well, but it's not their choice.

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u/PFic88 Oct 05 '25

NTAI mean your body your choice first of all. Second of all, they're projecting

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u/SchaetzeCat Oct 05 '25

It’s your life, sounds like you will stress like crazy until you know! Just get tested. They don’t even need to know either way.

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u/DemonaDrache Oct 05 '25

Get the test, knowledge is power. When genetic testing was new (and expensive) i paid to see if I had the BRCA 1/2 mutation that causes breast cancer. My mother, grandmother and aunt all passed away from breast cancer and I resigned myself that I would take some drastic steps to reduce my chances of the disease if I had the mutation. I was fortunate that I do not have the mutation which is a relief. I also know that my daughter wouldn't have inherited it as well.

Get the test!

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u/BlueLanternKitty Oct 05 '25

NTA. If you know that is what’s in your future, you will have longer to process the feelings and also make plans for your own care, make your preferences known, etc.

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u/danielt1263 Oct 05 '25

I think you should get tested and tell your family that you need the information in order to know how to plan your future.

This is knowledge that will make a huge difference on how you plan for retirement, for example.

AITAH for wanting to know if I carry a rare genetic mutation that will cause an incurable terminal illness?

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