In search of a malady...
March 16, 2012 7:49 AM   Subscribe

Writing a story... What is a malady or health issue that is 1) hereditary, 2) difficult to diagnose in an unborn child, 3) makes life particularly difficult (mentally or physically) for someone who has it?

I have a pregnant character who wants to abort her child because of fear that she is going to pass on whatever it is that she has. However, I do not know what she has.

I think the above sounds a little ridiculous but it's bugging me as a problem that I need to solve before I can "find its cousin", so to speak, and get to what's really going on here.

Thank you!
posted by You Should See the Other Guy to Health & Fitness (31 answers total) 3 users marked this as a favorite
Best answer: Schizophrenia? (I've known people who've deliberately not had children because they've got close relatives with the disease and don't want to pass it on.)
posted by Melismata at 7:57 AM on March 16, 2012 [2 favorites]

Cysctic fibrosis
Hemochromatosis (which might be of interest since it's more likely to be problematic for a boy sooner than a girl, but it's also easily treatable when diagnosed)
Multiple Sclerosis (which is not strictly genetic (AFAIK), but does appear more often in families)
posted by plinth at 7:59 AM on March 16, 2012

Autism. Appears to have a strong genetic component, so a woman who either already has an autistic child or who has siblings with autistic children is both at increased risk and is very likely to understand how difficult life can be for a profoundly autistic person.

(I have an autistic son. He ain't Rain Man. Life is hard. But I love him like crazy.)
posted by Lokheed at 7:59 AM on March 16, 2012

X-linked SCID?

Just make sure you go into the science of X linked disorders
posted by Blasdelb at 8:00 AM on March 16, 2012 [1 favorite]

Huntington's chorea is genetic and doesn't show up until later in life.
posted by martinX's bellbottoms at 8:00 AM on March 16, 2012 [3 favorites]

Neurofibromatosis often doesn't show up until the late teens/early twenties and is genetic. Here's two stories about people with much more severe cases than the ones shown in Wikipedia: one and two. FWIW I knew a guy with this malady (about half way between the Wiki pics and the other examples) and having to wait decades to learn if it would affect his children (and, if so, how severely) was excruciating.
posted by carmicha at 8:08 AM on March 16, 2012

Amending my comment to note that the guy I knew was in his late 70s, ten years ago, and I have no idea if it's possible to detect neurofibromatosis earlier now.
posted by carmicha at 8:10 AM on March 16, 2012

Huntington's chorea doesn't appear to meet the "difficult to diagnose in an unborn child" criteria, though, as its genetics are well-understood and we know exactly what to look for. A prenatal test exists, according to Wikipedia.
posted by DevilsAdvocate at 8:12 AM on March 16, 2012 [1 favorite]

Huntington's can be tested for using amniocentesis or chorionic villus sampling.

Here are some things that showed up when I did a quick Google for "hereditary diseases 'no prenatal test.'" I tried to weed out the ones that would have likely prevented the mother from living to adulthood or from having normal reproductive health:

Tourette Syndrome
Hereditary ataxia
Moebius Syndrome
Autism/Asperger Syndrome
posted by decathecting at 8:16 AM on March 16, 2012 [1 favorite]

Response by poster: Thanks for the suggestions. Please keep them coming. I will research each and see what fits my other purposes best.

Thank you!
posted by You Should See the Other Guy at 8:16 AM on March 16, 2012

Harlequin_type_ichthyosis. (warning: horrifying)
posted by sexyrobot at 8:19 AM on March 16, 2012

Some might say Alcoholism....
posted by RolandOfEld at 8:22 AM on March 16, 2012

Here's the thing: if a disease or syndrome truly is hereditary, that means it's genetic. Prenatal genetic testing is pretty sophisticated these days, and odds are decent that if there's a truly hereditary condition out there that doesn't have a prenatal DNA screening protocol at the moment, there's one in the works. Further, there are a lot of truly hereditary conditions which don't require a DNA test to detect prenatally. A lot of congenital heart conditions are hereditary, but most of them are pretty easy to spot. They now do prenatal surgery to correct heart defects.

What's harder is conditions with a genetic component, or which we think are partially hereditary but which are nonetheless kind of a crap shoot. Many psychiatric conditions, like schizophrenia, are this way. We think there's something genetic going on, but we don't know what it is, and no one's identified the gene or genes involved. There is an increased risk of schizophrenia for people with a schizophrenic parent, but there are identical twins where one has schizophrenia and the other doesn't. So your best bet is probably going to be something psychological or psychiatric, because even if there is some genetic component there, no one really understands how it works.

On the ichthyosis suggestion: it's a well-understood genetic disease, and there are prenatal screening protocols for it.
posted by valkyryn at 8:25 AM on March 16, 2012 [4 favorites]

Hypertrophic cardiomyopathy.
posted by pentagoet at 8:26 AM on March 16, 2012

Proteus syndrome.
posted by Sys Rq at 8:31 AM on March 16, 2012

You want Marfan Syndrome! It runs in my husband's family, and it's impossible to know how any children will be affected.
posted by SeedStitch at 8:32 AM on March 16, 2012

The first thing that came to my mind was autosomal dominant polycystic kidney disease. While cysts can start prenatally, it is most often diagnosed in the first few weeks after birth or sometimes, even, much later. Most people being treated for end-stage renal disease had a ADPKD diagnosis earlier. If your character had it, it would have been something adult-onset (most ADPKD is adult onset) prior to pregnancy where she knows little about her own family history. If she's pregnant with symptoms, they would have to be very mild. Kids have a 50% chance of getting it. I don't know what you're thinking as far as the bio-dad's medical history in your narrative.

Also, HIV. We're never really sure if the baby has contracted HIV from mom until serial testing. No inherited, per se, but contracted. It's a tough ethical call for A LOT of HIV moms who become pregnant because a) we simply cannot tell the mother one way or another if their baby will have HIV and b) people live with HIV, many without deficit, so terminating the pregnancy becomes an intensely personal issue. HIV will be a lot more common than a lot of strange and rare sorts of things that also leave the mother able to reach adulthood and carry a pregnancy and that we don't have a testing protocol for.

Bipolar Depression has a very strong genetic component. Some types of breast/ovarian/colon cancers, as well. Some types of deafness or ocular disease. I am mentioning these only because I know that families have talked to genetic counselors about those issues and pregnancy--they're genetic components, though--a little different than a sure thing. Environment does play a role in gene expression, we're pretty sure.

You could browse x-linked disorders, as Blasdelb suggested. On preview, what valkyryn said. Honestly, there isn't very much written, fiction or otherwise, about what people decide to do when they actually find out something definitive from prenatal testing (to me, as someone who works in pediatrics and sees a lot of inherited and contracted disease, the drama is more in the kinds of decisions families make with all the information in front of them, at every juncture). Why not have your mom know for sure that her kid has spina bifida, or a cardiac lesion, or some genetic/development problem? It's a real issue because a) most of these things are a continuum and so her experience with something or what she learns about people with this something may be very different case by case (spina bifida, for example can be devastating or produce little deficit) and b) there is always the idea that the future of medical science could intervene on behalf of an unborn child and their experience with the deficit could be very different.
posted by rumposinc at 8:37 AM on March 16, 2012 [1 favorite]

A thing that kept me really on the fence about kids for a long time was the number of people in my extended family with drug problems and mental illness. There's no test because it's not a genetic problem per se, but there are increased likelihoods, and most of the diagnoses won't show up until the kid is a teenager, at least. If I, my partner, or people in my very-immediate family had been the people with these problems, I probably would not have chosen to keep my genes going.
posted by tchemgrrl at 9:20 AM on March 16, 2012

posted by troywestfield at 9:38 AM on March 16, 2012

You could also make the character unwilling/unable to do any prenatal testing/genetic counseling.
posted by Pax at 10:08 AM on March 16, 2012

I think haemophilia is genetic, but only passed to one gender.
posted by mippy at 10:18 AM on March 16, 2012

I think haemophilia is genetic, but only passed to one gender.

Not quite true. The daughter of a recessive mother and a father with hemophilia has a %50 chance of getting both defective alleles, and a %100 chance of being a recessive carrier. That's an unusual situation though.
posted by CBrachyrhynchos at 11:32 AM on March 16, 2012

I think haemophilia is genetic, but only passed to one gender.

Doing a bit of digging turned up some interesting facts. Not all blood-clotting disorders are sex-linked, and women with one dominant hemophilia allele ("carriers") can have less severe forms of hemophilia.
posted by CBrachyrhynchos at 11:53 AM on March 16, 2012

Bipolar disorder has a strong genetic component, as does schizophrenia mentioned below, but is complex and multicausal and can not be diagnosed or predicted through genetic testing.
posted by Ladysin at 2:01 PM on March 16, 2012 [1 favorite]

Epilepsy and autism, and they can be combined.
posted by doyouknowwhoIam? at 2:20 PM on March 16, 2012

I could be your main character... I don't want to ever have children because I stutter, and it has made life more difficult than necessary. And I don't want to pass it on to my children. It would break my heart to see them go through what I went through.
posted by shipsthatburn at 4:17 PM on March 16, 2012

Misc comments...if you do find a disorder that you would like to use but "can't because prenatal testing is available" be aware that most pndx still requires knowing and verifying the specific mutation within the family. So you can use breast cancer -you just have her be the rare case where the familial mutation cannot be identified...Also, be aware that you will most likely need a dx that is NOT autosomal recessive as that would require the other partner to also be a carrier of this disease-which is rare-so most people with AR diseases like CF have perfectly healthy kids because their partners do not also carry a CF mutation. PKU might work but I don't know it'd be my first choice.

HD would actually work rather nicely because there could be a "strong" family hx of sx'tic people who have previously been thought to have other conditions that she thinks she's "escaped" by not drinking/drugging/etc but the issue of HD gets raised during the pregnancy and now she realizes the odds are quite different than what she thought and does it really matter because there is no way to quickly sort this out without testing herself and she doesn't want to know her own risk because it can be quite heartbreaking to KNOW that HD is in YOUR future.

You could also have the all the genetic info known but she has to face the issue of being unable to get test results prior to XX wks and what are her beliefs about second trimester termination, or testing can't be done due to insurance/cost, etc....
posted by beaning at 5:28 PM on March 16, 2012 [1 favorite]

a small point about hemophillia --- yes, as CBrachyrhynchos says, a mother with the recessive gene plus a father with hemphillia produces daughters with a 50% chance of hemophillia, plus 100% of the sons of such a couple will have it. But the drawbacks here are that the father will definately know he has hemophillia, and it's extremely likely that (unless she was adopted or something) the mother will be aware of it running in her own family.

And finally: every single one of the few documented cases of females with hemophillia? All died at puberty..... onset of their menstrual cycles killed them.
posted by easily confused at 6:44 PM on March 16, 2012

And finally: every single one of the few documented cases of females with hemophillia? All died at puberty..... onset of their menstrual cycles killed them.

No, I'm sorry but that's not true. I'm friends with the second (I believe her sister was the first) known vaginal-birth baby of a hemophiliac mother and she, now grown up, is herself hemophiliac and also had a vaginal-birth baby. All concerned are still alive.

As for the OP's original question, I'd definitely look at mental illness if you want something off the beaten path. If you want something more on the beaten path, I'd look at the X-linked disorders (especially something like Triple X Syndrome or Tetrasomy X where the symptoms can be mild and only come up later in life for other reasons. Triple X is 'usually' not inherited).
posted by librarylis at 7:51 PM on March 16, 2012

ALS. Genetic testing is limited. Your character probably isn't exhibiting symptoms herself -- it rarely manifests during prime reproductive years -- but she could have a family history.
posted by tangerine at 2:59 PM on March 17, 2012

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