What do you do: your baby is going to have Huntington's disease

In My Humble Opinion
21

I was in this exact position with a similar genetic disorder - autosomal dominant, adult onset neurological disorder with dementia as the primary symptom. Luckily I tested negative, but I spent countless hours thinking about what I’d do. It does seem unlikely to both care enough to get tested and not have evaluated and decided on family planning options.

I actually ultimately decided i wouldn’t even want to have healthy children - via adoption for instance - because I didn’t want to raise children just to watch me die an unpleasant death while they were in early adulthood. It was horrible going through that with my dad.

Of course, it’s hard to call that my ‘ultimate’ decision considering the whole situation was rendered unnecessary by a genetic test.

22

As sad as it would make me, and as much as I’d regret it for the rest of my life, I’d abort the mother.

23

I’d have the baby. Or, at least, I think I would. I haven’t actually had to make the choice, so I don’t know. But my wife and I talked about what we’d do if our child had a disability or disease that could be detected in the womb, and we decided that the only reason we’d abort is if it was a disease that made it very unlikely that the baby would make it to birth at all.

Our reasoning was that we should prepare ourselves to do our best to care for our child no matter what, because there are many things that might happen that can’t be detected, and we’d have to deal with it anyway. And a year from now, or ten, or 40 (if we’re still alive), if our kid or one of us becomes disabled or gets a terminal disease, we’re just going to do our best to support each other. Life is sometimes tragic, but there is still beauty to find in tragedy.

I’m sorry that you have this difficult decision to make. There’s no right answer that works for everyone. You could decide otherwise and make the right choice. Just sharing the way I thought about the issue in the hopes that it helps.

24

Out of line, here. Please don’t threadshit.

25

I used to work with a woman whose father was believed to have Alzheimer’s, until SHE was diagnosed with it. :frowning: He was tested and sure enough, he had the Huntington’s gene.

Whatever this woman does with this pregnancy, my recommendation is that she not have any more children so she doesn’t have to go through this again.

26

Again, I would like to raise the possibility of PGD testing. It’s no longer a choice between passing on a known genetic (Mendelian) condition and simply not having children.

Of course, that doesn’t help with a current pregnancy, but it does mean that having healthy children is still within reach.

27

My BIL is closing in on 60 and in the process of going downhill pretty fast from H. Pretty ugly. He and my sister had 3 kids - now all in their 20s. Gotta figure at least 1 of them is going to develop it - don’t know if the kids have had themselves tested. But all 3 have had pretty amazing lives so far.

Sure, the kid could die a horrible death before their time - but they could have at least a few awesome decades before that happened.

28

Horrible thing to pass on. Totally irresponsible to deliberately produce a child with this disease when you can nip it in the bud. Especially when you know that one of the parents is going to die, horribly, at a young age. Deliberately bringing a defective fetus to term is an act of pure evil.

29

I’ve had two patients with Huntington’s. It is an unbelievably horrific disease, IME. One was a man in his 40s who was no longer verbal, had a feeding tube, unable to walk, and yet he tried to get out of his bed constantly and had to be restrained. I honestly believed he would have chosen death if he had been able to. This man had one son, a young man in his early 20’s who, with his girlfriend, was expecting his first child. It fell to me to explain the genetic realities to him, as no one had ever told him his father was suffering from a genetic disease. The family moved out of state shortly thereafter, so I never found out what happened after that.

If it were I facing this dilemma, I’d abort and never try again, mostly because I might have to abort again.

As an aside, I wonder how many “spontaneous” cases of Huntington’s were really a case of Woody Guthrie getting lucky. Musicians are mucho sexy, lol.

30

Just a note: if you know you have the gene for HD, you will probably not be allowed to adopt, or at least not an infant. You have to have a normal life-expectancy to adopt an infant, and you have to have a physical to prove it. Some adoption agencies even automatically deny morbidly obese people and smokers, because statistically, they have lowered life-expectancies (yes, I know: plenty of outliers); healthy infants are at such a premium that they are looking for reasons to turn people away, and trying to do what they can to ensure that a child doesn’t lose a parent while still a child isn’t such a bad thing.

31

I can’t for the life of me parse these sentences out.

32

Woody Guthrie had Huntington’s. He traveled widely throughout the US playing his music. Many cases of Huntington’s have (apparently) no historical antecedent, (no one in the family had Huntington’s) Many women like musicians. Women have sex with men they like. Having sex can result in pregnancy. Having had sex with Woody Guthrie carried a high risk of the baby having Huntington’s.

TL, DR: Woody Guthrie may be the source of many otherwise unprecedented cases of Huntington’s. IMHO.

33

What a horrible situation to be in. I honestly don’t know what I’d do in this scenario. It’s less clearcut than something like the various trisomies where the impairment is immediate. We have one set of friends whose first child was diagnosed with trisomy 13 at birth; they had opted out of prenatal testing. Had they had the testing, the mom is very firm that she would have terminated. Their baby lived about 8 weeks (they’ve subsequently had 2 healthy kids). Another friend was told there was a good chance her baby had a trisomy (18, I think; it was not Down’s whatever it was). Repeat testing - fairly invasive, that endangered the fetus) was nonconclusive as well. They opted to continue the pregnancy - and wound up with a healthy boy who (if I remember correctly) may have had some mosaicism in the placenta or something.

With something like Huntington’s, however, you know the child will eventually develop the disease - albeit hopefully after at least 4 good decades of life. If you do continue the pregnancy, do you tell the child s/he is affected? How messed-up would the kid be on learning that?

My personal choice, if I had the gene, would be to avoid pregnancy, even with pre-implantation testing - because that child would grow up to watch me (or the father) die a horrible death.

34

Yeah, my choice would be to not procreate.

I remember my sister discussing their thought processes when they got married approx 30 yrs ago. At that time, genetic testing was nowhere near where it is today. I don’t believe they even knew for sure that BIL had it. So they essentially thought the were rolling the dice and - at worst, some of their kids would have shortened lifespans and horrible deaths.

I think I disagreed with that decision at the time. Gotta say, tho - they did have 30 or so really good married years before he really started going downhill. (Things are pretty rough now, tho - with no end in sight.) And they have 3 really neat and accomplished kids. Unsure how many - if any of them - have H. But together they’ve logged some 70 years of being productive, artistic, creative, etc.

If I were one of the kids, I’d get myself tested, and then strongly consider offing myself at the first significant signs of onset. As of yet, none of the kids shows any signs of procreating.

35

Huntington’s is a weird genetic disease.

If my fetus has the critical number of CAG repeats for Huntington’s, I’d abort. Yes, we all die of something, but there is a difference between knowing that your death is extremely likely to be slow and excrutiating for both yourself and your loved ones versus not knowing. Since life is already so incredibly unfair even when a person is dealt a “normal” genetic hand, I think it is quite reasonable to take control over those few things you can. Terminating over something like this is completely aligned with my personal values and ethics.

There would be no dilemma for me over a clear-cut diagnosis. If there’s absolute certainty that the baby will develop Huntington’s, I wouldn’t hesitate in my decision. But I probably would if the risk was more like 35 or 40%.

This is impossible, you say? No it isn’t! I got tested for Huntington’s a few years back when I pursued a diagnosis for my tics (adult-onset motor tics is a symptom of HD). I got a report back that enumerated the CAG repeat lengths I have on my two huntingtin loci. I have a slightly elevated number on one of my chromosomes while still being below the threshold of real concern overall. But according to the report, my great-great grandchildren are at risk!

Why? Because the gene is especially vulnerable to mutation. With each generation, the number of CAG repeats has a tendency to expand by a small amount. It is a sure-fire thing? No. Just a tendency. So my future generations are at small but discernible risk of suffering from the disorder, even though I have no known family history of it…simply because one of my chromosomes has a moderate number of repeats–just waiting for a couple more mutations to put it over the edge into the “high risk” category.

So…it is really not sufficient to determine your risk simply by asking the person you’re mating with about their family history. Both you and your mate’s chromosomes may have well below the critical number of CAG repeats (in that case, your offspring would be in the clear) or both of you may have a chromosome with a moderate to high number of repeats (in which case, your offspring would have a low to high risk of developing the disease). And just because your kid doesn’t develop the disease does not mean their children will not, given the way the genetics work.

I was upset when the doctor insisted I get tested. I thought I knew all about genetics, and I’d always been taught that you’d absolutely know it if you were at risk for Huntington’s as long as your parents lived to middle age. But I quickly understood how wrong this assumption is! Sometimes the symptoms don’t kick in until later in life (past middle age), particularly if the patient doesn’t have a super long CAG repeat length. Or they have a subtle form of the disease. And when either/both of these two things happens, the disease can be mistaken for something else. Or a person can start exhibiting the beginning stages of the disease in their 40s, but wind up dying from something else before anyone even considers HD. So it is possible that HD cases might go undetected in a family rife with chronic mental illness and health conditions, thereby preventing an individual family member from knowing they are at risk. This is why testing is so important.

I’m kind of glad I went through the experience of getting tested because I learned a lot from it. It is also taught me that evaluating risk is tough (at least for me). Like any fifth grader, I can grasp 50:50 very well. But 70:30? Nope. And then there’s all the interesting (and headache-inducing) ethical questions. Just how far down the family tree should a person be concerned when evaluating risk? Is it ethical to have children knowing that their children might be at elevated risk of the disease? If my test indicates that my grandchildren might be at risk, am I obligated to tell my children this? At what risk level is someone obligated to say something to other family members so folks can at least know whether they should get tested? It’s such a tricky situation. I’m relieved it is just a navel-gazing exercise for me and not something I have to really act on.

36

Abort that shit and never try again…wait, what was that about a disease?

37

Here’s a warning for trolling. Do not post in this thread again.

38

I think that ending the pregnancy would be for the best, but I’m not sure I’d be able to go through with it.

39

A dear friend of mine watched her brother die – badly – from (I don’t know the name of the syndrome) a genetic disease that only affects boys. When she got pregnant, she aborted the first pregnancy, because it was a boy. (There was no way to test for the presence of the disease.) She tried again and has a lovely daughter.

If I were in the same position, I’d do what she did.

40

I should add that this woman never had children of her own. Her husband, who died shortly before I met her, had two kids by a previous marriage and did not want (or maybe couldn’t have) additional children.