4 ms·

>so forgive me if we're still not that impressed by medicine. I get you're venting some pain here, but that's kind of looking a gift horse in the mouth. Modern

by gph 9y ago

>so forgive me if we're still not that impressed by medicine. I get you're venting some pain here, but that's kind of looking a gift horse in the mouth. Modern medicine hasn't figured out every single mystery, but it's certainly impressive what we have figured out.

tathougies 9y ago
There is no medical specialty dedicated to anyone who loses an infant or pregnancy, but there is a whole industry dedicated to creating new embryos and conceiving. Seriously, after our stillbirth we contacted UCSF, Stanford, and the Mayo Clinic and the receptionist on the phone that we spoke with did not know what kind of doctor we should see. Reproductive endocrinologists deal with infertility, and MFMs typically deal with diagnosed problems during a pregnancy. One of the nurses even told us that we 'needed to have a diagnosis' before we could see a particular MFM. I asked if he could run the diagnostic tests, and she simply said 'he doesn't do diagnosis'. So then what do they do? We called the REs and they told us they don't deal with late pregnancy loss. Studies on sudden infant death and pregnancy loss are actually few and far between compared to studies on helping older women with poor egg quality conceive. Both the friend I talked about and my wife and I are in our early 20s. The last 'breakthrough' with regard to stillbirth and late miscarriage was made in the 80s with the discovery of anti-phospholipid syndrome, but there has been no new conditions or treatments in the past 40 years. Most of this is due to a lack of research and funding, in comparison to infertility, which for some reason is incredibly well-funded. I'm just saying we should question if we're actually spending our resources equitably.
- arkades 9y ago
  > 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.
  - tathougies 9y ago
    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.
    - arkades 9y ago
      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.
      - tathougies 9y ago
        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.
- gph 9y ago
  That's a fair criticism. I guess when you said you weren't impressed by medicine it seemed like you were leveling that comment at the entirety of our medical establishment instead of the fact that our resources in this specific branch of medicine are way out of line. I think part of the problem is that there's likely a large amount of problems that lead to stillbirths and SIDS, so it's hard for researching to get funding to study a very general problem. Most the time they need to have a clear purpose and idea of what it is they are trying to figure out. And in the case of IVF/embryos there has been a much clearer path for them to take. Not saying that's right, but it's often how it goes in science in general. If you're got something specific where a study will likely lead to meaningful and actionable results you're both more likely to get funded and more likely to have collaborators, etc.
  - tathougies 9y ago
    No, not at all. Modern medicine is wonderful, and there are a lot of doctors doing really great work. Yeah, I totally agree that the magnitude of the problem is certainly part of the issue, and that IVF offers an easy path forward for those who can't conceive. Still it's depressing when you conceive easily, lose the baby, and the doctors have no clue (a few of my friend's stillbirths have been birth control failures, so they weren't even trying).
  - djsumdog 9y ago
    I wonder if there's also not a big effort to ask the parents if they want an autopsy, or if many simply refuse? It's an emotional situation and there might just be a big lack of data here (plus you need a lot of working hypothesizes on what to be looking for as well).
    - tathougies 9y ago
      There is a huge lack of data, and huge unwillingness to keep track of it. My wife and I are both math majors, and our immediate reaction to any of this stuff is to keep data. We would love to submit our experiences (which we've kept detailed records of) to some kind of database so that researchers can formulate hypotheses, but no one wants it.
- firstplacelast 9y ago
  That's like saying physicians have a responsibility to not care about money. If the money was in "preventing infant deaths" then physicians would specialize in it. But when you have a huge supply of people willing to spend hundreds of thousands on fertility, lots of docs will respond to the market. I get your point, it would be nice. It would also be nice if everyone working at facebook and snapchat would work on making our healthcare system more efficient. But money talks...
- jjeaff 9y ago
  >There is no medical specialty dedicated to anyone who loses an infant or pregnancy But this is exactly what an MFM (maternal fetal medicine specialist) does. I'm not sure that the one MFM you tried to consult with is indicative of the whole of the field.
  - tathougies 9y ago
    We've spoken with three MFMs; sorry if that wasn't clear. It was a challenge to get an appointment at each, but we managed to do so after tons of calls and several interventions by my wife's obstetrician.

by gph 9y ago

tathougies 9y ago

There is no medical specialty dedicated to anyone who loses an infant or pregnancy, but there is a whole industry dedicated to creating new embryos and conceiving. Seriously, after our stillbirth we contacted UCSF, Stanford, and the Mayo Clinic and the receptionist on the phone that we spoke with did not know what kind of doctor we should see. Reproductive endocrinologists deal with infertility, and MFMs typically deal with diagnosed problems during a pregnancy. One of the nurses even told us that we 'needed to have a diagnosis' before we could see a particular MFM. I asked if he could run the diagnostic tests, and she simply said 'he doesn't do diagnosis'. So then what do they do? We called the REs and they told us they don't deal with late pregnancy loss. Studies on sudden infant death and pregnancy loss are actually few and far between compared to studies on helping older women with poor egg quality conceive. Both the friend I talked about and my wife and I are in our early 20s. The last 'breakthrough' with regard to stillbirth and late miscarriage was made in the 80s with the discovery of anti-phospholipid syndrome, but there has been no new conditions or treatments in the past 40 years. Most of this is due to a lack of research and funding, in comparison to infertility, which for some reason is incredibly well-funded. I'm just saying we should question if we're actually spending our resources equitably.

arkades 9y ago
> 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.
- tathougies 9y ago
  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.
  - arkades 9y ago
    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.
    - tathougies 9y ago
      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.
gph 9y ago
That's a fair criticism. I guess when you said you weren't impressed by medicine it seemed like you were leveling that comment at the entirety of our medical establishment instead of the fact that our resources in this specific branch of medicine are way out of line. I think part of the problem is that there's likely a large amount of problems that lead to stillbirths and SIDS, so it's hard for researching to get funding to study a very general problem. Most the time they need to have a clear purpose and idea of what it is they are trying to figure out. And in the case of IVF/embryos there has been a much clearer path for them to take. Not saying that's right, but it's often how it goes in science in general. If you're got something specific where a study will likely lead to meaningful and actionable results you're both more likely to get funded and more likely to have collaborators, etc.
- tathougies 9y ago
  No, not at all. Modern medicine is wonderful, and there are a lot of doctors doing really great work. Yeah, I totally agree that the magnitude of the problem is certainly part of the issue, and that IVF offers an easy path forward for those who can't conceive. Still it's depressing when you conceive easily, lose the baby, and the doctors have no clue (a few of my friend's stillbirths have been birth control failures, so they weren't even trying).
- djsumdog 9y ago
  I wonder if there's also not a big effort to ask the parents if they want an autopsy, or if many simply refuse? It's an emotional situation and there might just be a big lack of data here (plus you need a lot of working hypothesizes on what to be looking for as well).
  - tathougies 9y ago
    There is a huge lack of data, and huge unwillingness to keep track of it. My wife and I are both math majors, and our immediate reaction to any of this stuff is to keep data. We would love to submit our experiences (which we've kept detailed records of) to some kind of database so that researchers can formulate hypotheses, but no one wants it.
firstplacelast 9y ago
That's like saying physicians have a responsibility to not care about money. If the money was in "preventing infant deaths" then physicians would specialize in it. But when you have a huge supply of people willing to spend hundreds of thousands on fertility, lots of docs will respond to the market. I get your point, it would be nice. It would also be nice if everyone working at facebook and snapchat would work on making our healthcare system more efficient. But money talks...
jjeaff 9y ago
>There is no medical specialty dedicated to anyone who loses an infant or pregnancy But this is exactly what an MFM (maternal fetal medicine specialist) does. I'm not sure that the one MFM you tried to consult with is indicative of the whole of the field.
- tathougies 9y ago
  We've spoken with three MFMs; sorry if that wasn't clear. It was a challenge to get an appointment at each, but we managed to do so after tons of calls and several interventions by my wife's obstetrician.