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> There is no medical specialty dedicated to anyone who loses an infant or pregnancy

There is. They’re medical geneticists. They’ve got relatively large departments at NYU, Brigham and Women’s, and NYP-Cornell.

It’s not under-funded, it just usually goes under the radar as “genetics,” rather than a clinical specialty.

Why would genetics have anything to do with it? If a baby is genetically abnormal, then it's not a surprise that they died (although still sad!). All the babies I mentioned were genetically normal. Their hearts just stopped. We've seen the geneticists; they cannot explain why any of our children died, because none of it was genetic (believe us.. carrier screening was on the top of all of our lists to make sure it wasn't something we're passing on).

Moreover, almost every study into the matter shows that the more pregnancy losses a couple has had, the less likely it is that any of them were due to aneuploidy, so again, genetics (while important for single miscarriages or stillbirchs) is an unlikely explanation for recurrent losses, unless a parent carries a balanced reciprocal or robertstonian translocation (which none of us do).

The MFMs that we have spoken with have all suggested various blood issues and some auto-immune issues which we are now being tested for. I don't see how geneticists (who are usually not doctors themselves) could possibly have the level of expertise to handle these cases.

Carrier testing is for known diseases only. For unknown genetic traits which give rise to non-viable offspring, well... they’re unknown.

I’m sorry I wasn’t clear - I meant Medical Geneticists (MDs) not geneticists (phds). That said, their work on these issues tends to be oriented to the basic science side, so that it can be applied as screenings and other genetic tests for couples in the future. Most Medical Geneticists are part-clinical and part-bench scientists; I don’t know of any that are purely clinicians. Their clinical side tends to be pre-conception screenings and genetic counseling.

It seems like what you’re saying you want is a medical specialty that deals in particular with individual couples that keep losing children, as though it’s a clinical problem.

Admittedly, there are some exceptions (eg, anti-phospholipid syndrome), but that already has a relevant specialist: OBs are supposed to identify that a patient may have it, and the relevant specialist (rheumatologist, usually, for the autoimmune stuff) confirms and treats.

While I agree any single incident is potentially due to an unknown genetic disease, I find it hardpressed that a woman who's had five stillbirths would fall on the shit side of luck. In general, mendelian inheritance is going to make it such that some number (at least 25%) is going to be viable, so it seems unlikely that someone could be unlucky that many times. Moreover, even in confirmed genetic diseases, there is a mechanism of death, for example metabolic disturbances in PKU or obvious malformation and anemia in hemoglobin barts thalassemia.

Nevertheless, I think your focus on medical genetics is quite misguided. For example, we know several causes of recurrent stillbirth and infant death that are not genetic in nature. For example, NAIT certainly has a genetic predisposition, but the primary treatment is immune and hematologic in nature. There's no reason this would fall under a geneticists area of expertise, and given the rarity, it's not clear most OBs would know about it either. Several couples I've met in online support groups have had a lot of trouble finding a doctor knowledgeable enough in NAIT to properly treat their pregnancies (which are actually remarkably successful, when treatde). Given the importance that we ought to be giving to lives of young children, it seems that simply lumping known non-genetic causes with genetics is the wrong approach. A better approach -- in my admittedly biased opinion -- would be to have one specialty with a wide breadth of knowledge who could specialize in teasing out what may be causing any particular issue.

For example, it seems somewhat ludicrous to believe that a woman who loses several babies consecutively in the third trimester due to premature labor while the baby is still alive is being affected by the same pathology that causes another woman's babies' hearts to just keep stopping. Unfortunately, these distinctions are rarely made in studies.

And while OBs are the ones on the front-line of treatment, they're also mainly a surgical / low-risk specialty. There does need to be some specialized care for the higher-risk couples. Multiple studies in other countries (we're in America) have shown that simple supportive care (including heavy monitoring, constant reassurance, and dedicated clinics) increases the live birth rate in couples with recurrent stillbirth or other forms of pregnancy loss.

Bro, I just want to give you a hug right now. I am crying in a public place and looking weird and I know HN is not a cool place to express this and this is not a good comment to insert into an otherwise intellectual conversation, but I love you and I hope you are good, man. I went through some shit like this a while back and it worked out for me in the end but I know it doesn't always. It doesn't fix anything but I'm thinking about you and hoping things are good for you, for what it's worth.

I feel like I’m in the awkward position of arguing with someone that’s recently had a terrible tragedy, sort of about that tragedy.(!)(?) I don’t want to do that.(?)(!) I’m just saying, bottom line, those specialties exist. You seem to think they don’t. Perhaps they don’t exist in your immediate area? They are, after all, fairly specialized tertiary care niches you’re only going to find in huge academic medical centers that bring in the sort of patient numbers to support tiny niche specialists.

You're in the awkward position of explaining someone's experience to them. If someone who has been through something is telling you that something about the experience could be improved, there's a good chance they're right, or that they have some insight to offer over someone who has not.

We live in the bay area, we have managed to make appointments with several specialized doctors, including the department chair of obstetrics and gynecology at one of the large academic hospitals here (after much consternation with the nurses on the phone). They have told us that they do not know. She also told us that she's never really seen too many cases of sudden cardiac arrest in mid-pregnancy fetuses. She did not send us to anyone else -- believe me, my wife and I would hop on the opportunity to find another doctor with relevant experience.

You’re saying a thing doesn’t exist. I know people that specialize in that thing. That seems like a disagreement of facts; I don’t really see how that’s explaining your experience to you. Whether a medical speciality -exists- isn’t a subjective issue.

I’m gonna leave it at this: if you’re willing to take a trip, NYU has a dedicated repeat pregnancy loss center (Phone: 212-263-6359).

(And for what ever a strangers internet words are worth: I do earnestly hope that they or someone else succeeds in helping you.)

Can second this. I am acquainted with somebody who literally works in exactly this field over at Brigham and Women's here in Boston. It sounds like the experience 'tathougies describes really sucks--but I can attest that these people do exist and do do this work.

(I want to echo the good vibes here, too.)

Thank you, and I appreciate the contact.

Perhaps I haven't made my complaint clear. The doctors exist, but they aren't helpful.

We don't expect miracle answers, and realize medicine may not know, but it would be nice to have a dedicated clinic to work with you through it, or at least a doctor willing to establish a long-term relationship. I expect it would also help researchers formulate new hypotheses if they kept in contact with couples who are 'unexplained'.

We have been to three recurrent loss clinics at UCSF, Stanford, and the Mayo Clinic. There are doctors there who do research in this area, but if you don't have any of the limited number of conditions that they know about, they aren't helpful, nor are they willing to help you find clinical trials that may apply or willing to explore research with you or stick with you. I've read many brochures and websites that claim that the doctors will work with you to determine the cause of miscarriage, stillbirth, etc, but in our experience they work with you until they give up, then they don't want to see you anymore.

This is a bit different than other specialties. I don't have much experience with doctors, but I do have some older family members with chronic illnesses, a few with rare, unexplainable ones. In that situation, it's common for doctors to establish long-term relationships with patients and suggest clinical trials or research opportunities they can participate in. The approach seems different than what we've seen.

Once we're done with our next round of appointments, perhaps I'll call NYU. We have a few more appointments coming up with some more research doctors; hopefully, they will be more willing to keep track of our case.

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