8 ms·

Spina bifida: Keyhole surgery repairs baby spine in womb

127 points by bauc 7y ago

benj111 7y ago
I thought spina bifida was somewhat progressive. My Aunt has it, and could 'walk' with crutches when young, then needed leg braces, and is now in a wheelchair. So I guess this is a quality of life thing, rather than a cure?
- Fezzik 7y ago
  Not to be terse, but the first sentence of the article is: “Surgeons at King's College Hospital say the procedure is not a cure, but could be the difference between some children learning to walk or not...”
  - benj111 7y ago
    The title says 'fix' it isn't apparent to me where the line between fix and cure lies. I assume somewhere between stopping further damage and starting from a 'better' base, where precisely I don't know, thus my question.
    - wincy 7y ago
      There’s a lot of issues this doesn’t fix, like a lot (90%+) of spina bifida cases require shunts to drain cranial spinal fluid. Your spinal cord would normally do that. Without that the child will develop hydrocephalus which can cause all sorts of mental issues, in addition to giving the child a sort of “alien head” problem which impacts their ability to fit in. Chiari malformation isn’t fixed by this, which can cause apnea and breath holding in some spina bifida cases. A decent number of children with Chiari 2 get a tracheostomy, which then requires 24 hour care, as the child can no longer audibly cry when on a ventilator, since the vocal cords are bypassed.
- arkades 7y ago
  Long term mobility prognosis depends very heavily on the exact level of the spine where the myelomeningocele occurs. It’s not really “progressive”, though, in the sense that that term is used medically - it’s more just “fragile.” A progressive disease is one in which the disease process itself continues to operate. In spina bifida the disease process is complete by birth, but the result can be a fragile anatomy prone to subsequent deterioration. Saffron: I didn’t kill him either. Mal: No, don’t reckon there’s many you killed. Just put him in a position to die easy.
  - falcor84 7y ago
    Wow, I applaud the use of this quote. I have seen references to situations from the Whedonverse used to improve understanding in many areas, but never before in medicine.
  - benj111 7y ago
    Ok does it make it less fragile then? Are we talking about someone who has 10 years longer without a wheelchair, or are they never expected to need a wheelchair?
    - arkades 7y ago
      It does make it less fragile, by putting the spinal nerves back into the protective bones of the spine. We have a shortage of long term data, but studies on kids out to ten years show higher rates of ambulation, and better quality of ambulation.
      - benj111 7y ago
        Ok thanks, so we're talking about someone who could walk with crutches at birth, potentially being able to walk with crutches indefinitely then?
        Filligree 7y ago
        Unlikely, but if they can at least avoid crutches in their childhood then... that isn't nothing. That's a lot, actually. They'll probably need them eventually. Then again, technology does keep progressing. Maybe this will be like many other diseases in the past, and it'll turn out that we've reached escape velocity -- the repairs will outdo the damage. There's no way to know yet. Even so, this article is very good news.
- ChrisWilding 7y ago
  My brother was the similar, could walk medium distances when young but these days he uses a wheelchair most of the time and only walks very short distances occasionally. I think it's mostly because his upper body has grown but his legs are less muscular and haven't been able to keep up and support his weight as well
dhkxh 7y ago
It's truly amazing that we can do this.
throwbobaway313 7y ago
Then the fetus died, and republicans executed the mother in response.
ausbah 7y ago
So is it immediately clear that the surgery was a complete success? Or is that something that will only be know with time?
- barking 7y ago
  I was reading a news story featuring a senior doc in the UK who was castigating about lots of things. One of them was keyhole surgery which he claimed was often undertaken for reasons of vanity by surgeons, when a conventional approach would be more reliable. Might not apply in this case of course.
- wincy 7y ago
  The primary symptoms of spina bifida are incontinence, bladder control, and limited leg movement. Unfortunately, all three of those things are just characteristics of being a baby, so it’s difficult to tell until the child is older. The best you can do is give them physical therapy on their legs and make sure their shunt keeps working, so they don’t develop hydrocephalus. My daughter is seven months old with spina bifida, and we get “hints” sometimes, like she grunts while pooping which is a good sign, as it indicates she might have bowel control. She kicks her legs but not often. She wears little leg braces an hour or two a day to straighten her little feet. She doesn’t move her toes at all, and you can smack her feet (babies HATE that) without her reacting. It all depends on the individual case though, and sometimes as someone grows the spinal cord can snag on the bones and someone who once walked can become wheelchair bound. As someone else stated, they’re just much more delicate. It sounds like this surgery tries to put the cord back inside the bones, but I’m not sure.
wiradikusuma 7y ago
As a parent, I feel sad for the condition and happy for the result. Every time I read stories like this, I feel very blessed for everything being "normal". Thanks for sharing this.
wincy 7y ago
I’m in the US. My seven month old daughter was born with Spina Bifida. It didn’t show on the ultrasound, and it was a total shock to us. I can’t be sure but it seemed to correlate to a flu my wife had during the period that spina bifida “develops” (rather the spinal cord fails to develop fully). The worst complication has to do with Chiari malformation, which affects her unconscious breathing. She gets upset or angry, and freezes up, turns purple, passes out, then requires CPR to be resuscitated. Most spina bifida babies do not have this complication. We were told children with this condition die. My wife obsessively reviewed the same papers the doctors had, and some others. She carefully googled every term she didn’t know. She discovered children prescribed clonidine had a MUCH improved prognosis. At her insistence and after some initial pushback and a very detailed email to the doctors, it was prescribed and my daughters condition improved substantially. She hasn’t had a single breath holding spell that’s required resuscitation since. It’s made us wary of the doctors recommendations. We feel like we have to be the experts, because if we’d blindly followed the doctors our daughter would likely be gone. She’s so good natured and friendly, and she’s happy. She’s happy to be here and we’re happy to have her. If we knew there was no hope, or that she’d be permanently mentally disabled, I can’t honestly say that we’d have fought this hard for her. It’s also taught me who my real friends are, my wife’s family has been so supportive while mine has retreated almost completely. People do NOT like being around tragedy if they can help it. They’ve given us “plenty of space”. My wife’s grandmother, who we weren’t close to before, has given us amazing outpourings of support and her time, visiting our daughter in the hospital almost every day. In the months leading up to our daughters birth grandma had seemed to be deteriorating due to dementia, but she has a new lease on life. I can’t say why this has happened, but it feels like a miracle. One of the best things that happened to me during all this was a gray beard software engineer overheard me talking about my daughter. He took me aside and told me he had spina bifida, and we talked at length about it, and it was one of the nicest things anyone has ever done for me. It made me have hope when before I had none. I never would have known he had it. He’s lived a long and fulfilling life, a life I want my daughter to have.
- barking 7y ago
  I hope it all works out great for your little one.
anbop 7y ago
Might be just me, but I think that if a serious medical condition like this is discovered in utero, the more humane approach is to abort the pregnancy.
- feydaykyn 7y ago
  Either choice is a bet. We choose to abort the pregnancy because we had first hand experience with spina bifida going very bad, and felt we protected our child from the unsufferable suffering many of them live through, but there are some amazing exceptions in this thread. We'll never know if we made the right choice, and I wish with all my heart this kind of surgery was available eight years ago, holding her corpse broke me completly. At least she is not suffering.
- escapologybb 7y ago
  Please take this comment from a quadriplegic with spina bifida in a positive sense it was made. No, you're not alone and that is a very very common opinion. It's an opinion that very quickly evaporates in my experience when somebody becomes quadriplegic, is about to have a child with a potentially debilitating disease, or is otherwise confronted with the reality of severe disability. Not the intellectual realities of disability that I think anybody reading this on HN can imagine what the difficulties might be for a quadriplegic, no I mean the actual pain filled, shit covered, fear inducing, inconvenient and potentially crappy reality a severe disability. You have to be alive to realise how bad things are, which is kind of a wonderful thing I think. To be honest, it's something I hope you never have to confront. I really do my Friend. Be well. :-) Edited to Add: You lot should stop down voting him in my really not very humble opinion, that's a super common opinion that I don't feel has an ounce of malice behind. But rather curiosity.
ChrisWilding 7y ago
My brother has Spina Bifida and it was a complete shock to whole the family when he was born as it hadn't shown up on the ultrasound. Seeing him whisked away for surgery so soon after being born was incredibly terrifying and stressful for the whole family, not to mention the stress he's experienced from various medical procedures over the years. Seeing medical advances like this make me really happy, I only wish they'd existed 25 years ago so they could help him.
escapologybb 7y ago
This is amazing news, it really is. Slightly off topic but I would like to address the people in this thread saying things along the lines of "with a medical condition is serious as this, it's better to abort" Yeah, fuck no. I was born in 1978 in the UK with spina bifida and Chiari malformation of the back of my brain which basically means a couple of the ventricles are being pulled by my spine out of my skull.[1] (Very basically) If you look at any sort of scan of my brain and ask a Neurologist what they are looking at and they will tell you very forthrightly that the person whose scan they are looking at will definitely be uncommunicative, will have cognitive impairment, will probably be on a ventilator and will definitely have a foreshortened life. (This is not from some hypothetical thought experiment, I've done this over the years) So, speaking as a 41-year-old quadriplegic hacker with spina bifida who's not on a ventilator; let me say that life finds a way. I was written off so many times it's unreal, medicine is not a science but rather a series of very very very good guesses. We need doctors, but we need lots of opinions and you don't have to do what they say. They gave Stephen Hawking three or four years to live when he got his MND diagnosis, he lived another 30 years or so. My life is great, yes I'm quadriplegic but once you get past that little speed bump I have a job, friends, a wonderful partner, family everywhere, a very serious addiction to Raspberry Pi's and exploiting networks and I feel incredibly lucky. I am so glad I was not aborted. Okay, because this is the Internet it's time for the caveats Yes I am aware I am slightly unusual and not all quadriplegics with spina bifida dodged a bullet in quite the same way I did. Also, I think that the woman who is going to be carrying the baby to term has the right to decide whether to abort or not. Regardless of my opinion because I did not have to have a baby. [1]: I know, eww right? :-)
- georgewfraser 7y ago
  Your story is amazing thanks for sharing. Hypothetically, if spina bifida could be detected by pre-implantation genetic diagnosis, meaning that an embryo that was destined to be a person with spina bifida could simply not be implanted, would you also oppose pre implantation genetic diagnosis?
  - escapologybb 7y ago
    That is a pretty wild hypothesis, but I would have to say that when we are at the point of editing genes to get rid of debilitating diseases then sign me up. I am very happy the way I am right now, but given the choice then of course I would choose to be able-bodied. It would be asinine for me to think otherwise. So yes, if we could get to the point where we are editing the genes of something in a test tube could not survive outside of that test tube that then might potentially go on to be a human then it is incumbent upon us to make sure they are healthy as much as we can. If that makes any sense!
RcouF1uZ4gsC 7y ago
PSA: If you can possibly get pregnant, please make sure you are taking a folate supplement. If you have a partner that can possibly get pregnant, make sure she is taking a folate supplement. Folate reduces the risk of this happening.
- 24gttghh 7y ago
  Old source: https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5113a1.htm https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5113a1.htm Current source: https://www.mayoclinic.org/diseases-conditions/spina-bifida/symptoms-causes/syc-20377860 https://www.mayoclinic.org/diseases-conditions/spina-bifida/... tl;dr: folate deficiency is probably a main factor, but not the sole cause of NTD's.
  - needlesurgeon 7y ago
    This is absolutely true. Another way of saying this is: at a population based level, a very cheap and effective way to decrease the incidence of spina bifida is by providing folate supplementation. However, some mothers are genetically pre-disposed to having children with NTDs, and certain medications interfere with metabolism and can increase the risk of NTDs.
needlesurgeon 7y ago
Neurosurgeon here (long-term HN browser and my post). If you're interested in prenatal surgery for spina bifida (more specifically: for myelomeningocele), check out the MOMS trial: https://www.nejm.org/doi/full/10.1056/NEJMoa1014379 https://www.nejm.org/doi/full/10.1056/NEJMoa1014379 Essentially, this was a prospective randomized trial looking at prenatal surgery vs. standard management with mothers who knew they were going to have a child with spina bifida. This work stems from pre-clinical experiments using sheep: https://www.ncbi.nlm.nih.gov/pubmed/7585064 https://www.ncbi.nlm.nih.gov/pubmed/7585064
- escapologybb 7y ago
  I almost certainly know the answer to this question and understand you're not my doctor et cetera et cetera et cetera and I won't try to do something Internet crazy when you tell me it's not possible. (Deep breath) That being said, Do you think hypothetically that this type of surgery could be used to help dashingly handsome 41-year-old Quadriplegic hackers with spina bifida like me? (also, been interacting with neurologists my entire life and I think your understanding of the brain borders on the magical dark arts!)
  - needlesurgeon 7y ago
    When we talk about clinical trials, we are often interested in answering (1) a primary outcome, which is articulated as a specific yes/no questions based on a measurable clinical outcome, and then (2) a series secondary outcomes, which are answers to auxiliary answers. Clinical trials are usually designed to answer a specific question for a specific population. Many (actually, most) children born with myelomeningoceles will develop hydrocephalus, which is a mismatch between spinal fluid production and resorption. This is usually treated using a ventriculoperitoneal shunt -- a shunt that diverts fluid from the brain to the abdominal cavity. Shunts can be life saving, but most eventually stop working and need to be surgically revised. The MOMS trial compared the need for VP shunt and mortality between pre-natal surgery and the standard practice (i.e. post-natal surgery). So: unfortunately, the results of this trial do not generalize to your situation. However, many academic medical institutions with neurosurgical and rehab departments have ongoing studies related to spinal cord injuries. There are a variety of surgeries that can help people with spinal cord dysfunction who have specific clinical problems (e.g. bladder control, contractures, etc.). There are also clinical trials that have looked at restorative neurotechnologies for people with spinal cord dysfunction. For instance, check out: https://www.ncbi.nlm.nih.gov/pubmed/30382196 https://www.ncbi.nlm.nih.gov/pubmed/30382196 https://www.ncbi.nlm.nih.gov/pubmed/30462658 https://www.ncbi.nlm.nih.gov/pubmed/30462658
anonlastname 7y ago
Survivorship bias
- dang 7y ago
  We've banned this account for breaking the site guidelines and posting unsubstantive comments. If you don't want to be banned, you're welcome to email hn@ycombinator.com and give us reason to believe that you'll follow the rules in the future. We detached this comment from https://news.ycombinator.com/item?id=19941245 https://news.ycombinator.com/item?id=19941245 and marked it off-topic.

127 points by bauc 7y ago

I thought spina bifida was somewhat progressive. My Aunt has it, and could 'walk' with crutches when young, then needed leg braces, and is now in a wheelchair. So I guess this is a quality of life thing, rather than a cure?

Fezzik 7y ago
Not to be terse, but the first sentence of the article is: “Surgeons at King's College Hospital say the procedure is not a cure, but could be the difference between some children learning to walk or not...”
- benj111 7y ago
  The title says 'fix' it isn't apparent to me where the line between fix and cure lies. I assume somewhere between stopping further damage and starting from a 'better' base, where precisely I don't know, thus my question.
  - wincy 7y ago
    There’s a lot of issues this doesn’t fix, like a lot (90%+) of spina bifida cases require shunts to drain cranial spinal fluid. Your spinal cord would normally do that. Without that the child will develop hydrocephalus which can cause all sorts of mental issues, in addition to giving the child a sort of “alien head” problem which impacts their ability to fit in. Chiari malformation isn’t fixed by this, which can cause apnea and breath holding in some spina bifida cases. A decent number of children with Chiari 2 get a tracheostomy, which then requires 24 hour care, as the child can no longer audibly cry when on a ventilator, since the vocal cords are bypassed.
arkades 7y ago
Long term mobility prognosis depends very heavily on the exact level of the spine where the myelomeningocele occurs. It’s not really “progressive”, though, in the sense that that term is used medically - it’s more just “fragile.” A progressive disease is one in which the disease process itself continues to operate. In spina bifida the disease process is complete by birth, but the result can be a fragile anatomy prone to subsequent deterioration. Saffron: I didn’t kill him either. Mal: No, don’t reckon there’s many you killed. Just put him in a position to die easy.
- falcor84 7y ago
  Wow, I applaud the use of this quote. I have seen references to situations from the Whedonverse used to improve understanding in many areas, but never before in medicine.
- benj111 7y ago
  Ok does it make it less fragile then? Are we talking about someone who has 10 years longer without a wheelchair, or are they never expected to need a wheelchair?
  - arkades 7y ago
    It does make it less fragile, by putting the spinal nerves back into the protective bones of the spine. We have a shortage of long term data, but studies on kids out to ten years show higher rates of ambulation, and better quality of ambulation.
    - benj111 7y ago
      Ok thanks, so we're talking about someone who could walk with crutches at birth, potentially being able to walk with crutches indefinitely then?
      - Filligree 7y ago
        Unlikely, but if they can at least avoid crutches in their childhood then... that isn't nothing. That's a lot, actually. They'll probably need them eventually. Then again, technology does keep progressing. Maybe this will be like many other diseases in the past, and it'll turn out that we've reached escape velocity -- the repairs will outdo the damage. There's no way to know yet. Even so, this article is very good news.
ChrisWilding 7y ago
My brother was the similar, could walk medium distances when young but these days he uses a wheelchair most of the time and only walks very short distances occasionally. I think it's mostly because his upper body has grown but his legs are less muscular and haven't been able to keep up and support his weight as well

dhkxh 7y ago

It's truly amazing that we can do this.

throwbobaway313 7y ago

Then the fetus died, and republicans executed the mother in response.

ausbah 7y ago

So is it immediately clear that the surgery was a complete success? Or is that something that will only be know with time?

barking 7y ago
I was reading a news story featuring a senior doc in the UK who was castigating about lots of things. One of them was keyhole surgery which he claimed was often undertaken for reasons of vanity by surgeons, when a conventional approach would be more reliable. Might not apply in this case of course.
wincy 7y ago
The primary symptoms of spina bifida are incontinence, bladder control, and limited leg movement. Unfortunately, all three of those things are just characteristics of being a baby, so it’s difficult to tell until the child is older. The best you can do is give them physical therapy on their legs and make sure their shunt keeps working, so they don’t develop hydrocephalus. My daughter is seven months old with spina bifida, and we get “hints” sometimes, like she grunts while pooping which is a good sign, as it indicates she might have bowel control. She kicks her legs but not often. She wears little leg braces an hour or two a day to straighten her little feet. She doesn’t move her toes at all, and you can smack her feet (babies HATE that) without her reacting. It all depends on the individual case though, and sometimes as someone grows the spinal cord can snag on the bones and someone who once walked can become wheelchair bound. As someone else stated, they’re just much more delicate. It sounds like this surgery tries to put the cord back inside the bones, but I’m not sure.

wiradikusuma 7y ago

As a parent, I feel sad for the condition and happy for the result. Every time I read stories like this, I feel very blessed for everything being "normal". Thanks for sharing this.

wincy 7y ago

I’m in the US. My seven month old daughter was born with Spina Bifida. It didn’t show on the ultrasound, and it was a total shock to us. I can’t be sure but it seemed to correlate to a flu my wife had during the period that spina bifida “develops” (rather the spinal cord fails to develop fully). The worst complication has to do with Chiari malformation, which affects her unconscious breathing. She gets upset or angry, and freezes up, turns purple, passes out, then requires CPR to be resuscitated. Most spina bifida babies do not have this complication. We were told children with this condition die. My wife obsessively reviewed the same papers the doctors had, and some others. She carefully googled every term she didn’t know. She discovered children prescribed clonidine had a MUCH improved prognosis. At her insistence and after some initial pushback and a very detailed email to the doctors, it was prescribed and my daughters condition improved substantially. She hasn’t had a single breath holding spell that’s required resuscitation since. It’s made us wary of the doctors recommendations. We feel like we have to be the experts, because if we’d blindly followed the doctors our daughter would likely be gone. She’s so good natured and friendly, and she’s happy. She’s happy to be here and we’re happy to have her. If we knew there was no hope, or that she’d be permanently mentally disabled, I can’t honestly say that we’d have fought this hard for her. It’s also taught me who my real friends are, my wife’s family has been so supportive while mine has retreated almost completely. People do NOT like being around tragedy if they can help it. They’ve given us “plenty of space”. My wife’s grandmother, who we weren’t close to before, has given us amazing outpourings of support and her time, visiting our daughter in the hospital almost every day. In the months leading up to our daughters birth grandma had seemed to be deteriorating due to dementia, but she has a new lease on life. I can’t say why this has happened, but it feels like a miracle. One of the best things that happened to me during all this was a gray beard software engineer overheard me talking about my daughter. He took me aside and told me he had spina bifida, and we talked at length about it, and it was one of the nicest things anyone has ever done for me. It made me have hope when before I had none. I never would have known he had it. He’s lived a long and fulfilling life, a life I want my daughter to have.

barking 7y ago
I hope it all works out great for your little one.

anbop 7y ago

Might be just me, but I think that if a serious medical condition like this is discovered in utero, the more humane approach is to abort the pregnancy.

feydaykyn 7y ago
Either choice is a bet. We choose to abort the pregnancy because we had first hand experience with spina bifida going very bad, and felt we protected our child from the unsufferable suffering many of them live through, but there are some amazing exceptions in this thread. We'll never know if we made the right choice, and I wish with all my heart this kind of surgery was available eight years ago, holding her corpse broke me completly. At least she is not suffering.
escapologybb 7y ago
Please take this comment from a quadriplegic with spina bifida in a positive sense it was made. No, you're not alone and that is a very very common opinion. It's an opinion that very quickly evaporates in my experience when somebody becomes quadriplegic, is about to have a child with a potentially debilitating disease, or is otherwise confronted with the reality of severe disability. Not the intellectual realities of disability that I think anybody reading this on HN can imagine what the difficulties might be for a quadriplegic, no I mean the actual pain filled, shit covered, fear inducing, inconvenient and potentially crappy reality a severe disability. You have to be alive to realise how bad things are, which is kind of a wonderful thing I think. To be honest, it's something I hope you never have to confront. I really do my Friend. Be well. :-) Edited to Add: You lot should stop down voting him in my really not very humble opinion, that's a super common opinion that I don't feel has an ounce of malice behind. But rather curiosity.

ChrisWilding 7y ago

My brother has Spina Bifida and it was a complete shock to whole the family when he was born as it hadn't shown up on the ultrasound. Seeing him whisked away for surgery so soon after being born was incredibly terrifying and stressful for the whole family, not to mention the stress he's experienced from various medical procedures over the years. Seeing medical advances like this make me really happy, I only wish they'd existed 25 years ago so they could help him.

escapologybb 7y ago

This is amazing news, it really is. Slightly off topic but I would like to address the people in this thread saying things along the lines of "with a medical condition is serious as this, it's better to abort" Yeah, fuck no. I was born in 1978 in the UK with spina bifida and Chiari malformation of the back of my brain which basically means a couple of the ventricles are being pulled by my spine out of my skull.[1] (Very basically) If you look at any sort of scan of my brain and ask a Neurologist what they are looking at and they will tell you very forthrightly that the person whose scan they are looking at will definitely be uncommunicative, will have cognitive impairment, will probably be on a ventilator and will definitely have a foreshortened life. (This is not from some hypothetical thought experiment, I've done this over the years) So, speaking as a 41-year-old quadriplegic hacker with spina bifida who's not on a ventilator; let me say that life finds a way. I was written off so many times it's unreal, medicine is not a science but rather a series of very very very good guesses. We need doctors, but we need lots of opinions and you don't have to do what they say. They gave Stephen Hawking three or four years to live when he got his MND diagnosis, he lived another 30 years or so. My life is great, yes I'm quadriplegic but once you get past that little speed bump I have a job, friends, a wonderful partner, family everywhere, a very serious addiction to Raspberry Pi's and exploiting networks and I feel incredibly lucky. I am so glad I was not aborted. Okay, because this is the Internet it's time for the caveats Yes I am aware I am slightly unusual and not all quadriplegics with spina bifida dodged a bullet in quite the same way I did. Also, I think that the woman who is going to be carrying the baby to term has the right to decide whether to abort or not. Regardless of my opinion because I did not have to have a baby. [1]: I know, eww right? :-)

georgewfraser 7y ago
Your story is amazing thanks for sharing. Hypothetically, if spina bifida could be detected by pre-implantation genetic diagnosis, meaning that an embryo that was destined to be a person with spina bifida could simply not be implanted, would you also oppose pre implantation genetic diagnosis?
- escapologybb 7y ago
  That is a pretty wild hypothesis, but I would have to say that when we are at the point of editing genes to get rid of debilitating diseases then sign me up. I am very happy the way I am right now, but given the choice then of course I would choose to be able-bodied. It would be asinine for me to think otherwise. So yes, if we could get to the point where we are editing the genes of something in a test tube could not survive outside of that test tube that then might potentially go on to be a human then it is incumbent upon us to make sure they are healthy as much as we can. If that makes any sense!

RcouF1uZ4gsC 7y ago

PSA: If you can possibly get pregnant, please make sure you are taking a folate supplement. If you have a partner that can possibly get pregnant, make sure she is taking a folate supplement. Folate reduces the risk of this happening.

24gttghh 7y ago
Old source: https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5113a1.htm https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5113a1.htm Current source: https://www.mayoclinic.org/diseases-conditions/spina-bifida/symptoms-causes/syc-20377860 https://www.mayoclinic.org/diseases-conditions/spina-bifida/... tl;dr: folate deficiency is probably a main factor, but not the sole cause of NTD's.
- needlesurgeon 7y ago
  This is absolutely true. Another way of saying this is: at a population based level, a very cheap and effective way to decrease the incidence of spina bifida is by providing folate supplementation. However, some mothers are genetically pre-disposed to having children with NTDs, and certain medications interfere with metabolism and can increase the risk of NTDs.

needlesurgeon 7y ago

Neurosurgeon here (long-term HN browser and my post). If you're interested in prenatal surgery for spina bifida (more specifically: for myelomeningocele), check out the MOMS trial: https://www.nejm.org/doi/full/10.1056/NEJMoa1014379 https://www.nejm.org/doi/full/10.1056/NEJMoa1014379 Essentially, this was a prospective randomized trial looking at prenatal surgery vs. standard management with mothers who knew they were going to have a child with spina bifida. This work stems from pre-clinical experiments using sheep: https://www.ncbi.nlm.nih.gov/pubmed/7585064 https://www.ncbi.nlm.nih.gov/pubmed/7585064

escapologybb 7y ago
I almost certainly know the answer to this question and understand you're not my doctor et cetera et cetera et cetera and I won't try to do something Internet crazy when you tell me it's not possible. (Deep breath) That being said, Do you think hypothetically that this type of surgery could be used to help dashingly handsome 41-year-old Quadriplegic hackers with spina bifida like me? (also, been interacting with neurologists my entire life and I think your understanding of the brain borders on the magical dark arts!)
- needlesurgeon 7y ago
  When we talk about clinical trials, we are often interested in answering (1) a primary outcome, which is articulated as a specific yes/no questions based on a measurable clinical outcome, and then (2) a series secondary outcomes, which are answers to auxiliary answers. Clinical trials are usually designed to answer a specific question for a specific population. Many (actually, most) children born with myelomeningoceles will develop hydrocephalus, which is a mismatch between spinal fluid production and resorption. This is usually treated using a ventriculoperitoneal shunt -- a shunt that diverts fluid from the brain to the abdominal cavity. Shunts can be life saving, but most eventually stop working and need to be surgically revised. The MOMS trial compared the need for VP shunt and mortality between pre-natal surgery and the standard practice (i.e. post-natal surgery). So: unfortunately, the results of this trial do not generalize to your situation. However, many academic medical institutions with neurosurgical and rehab departments have ongoing studies related to spinal cord injuries. There are a variety of surgeries that can help people with spinal cord dysfunction who have specific clinical problems (e.g. bladder control, contractures, etc.). There are also clinical trials that have looked at restorative neurotechnologies for people with spinal cord dysfunction. For instance, check out: https://www.ncbi.nlm.nih.gov/pubmed/30382196 https://www.ncbi.nlm.nih.gov/pubmed/30382196 https://www.ncbi.nlm.nih.gov/pubmed/30462658 https://www.ncbi.nlm.nih.gov/pubmed/30462658

anonlastname 7y ago

Survivorship bias

dang 7y ago
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