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.
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?
It’s important to mention that spinal bifida can denote more than a single birth defect. I have spinal bifida occulta and have never had any medical issues. I didn’t even know I had it until a doctor pointed it out in x-ray for an unrelated injury. My mother’s first child had spinal bifida myelomeningocele and did in fact die at a very young age due to complications stemming from her condition.
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.
I'm thankful your wife had the wherewithal to persist in both her research and pestering of medical professionals. We recently faced a similar situation with our young daughter (was 20mo at the time), who was diagnosed with a rare intracardiac tumor last fall. The first prognosis we received (from the chief pediatric cardio-thoracic surgeon at Stanford) was that it was inoperable and we should take her home and enjoy her while she was healthy.
Thankfully my wife also persisted and three additional opinions later we found the right place with the right professionals and demonstrated experience and our daughter is doing great post-surgery.
We learned the same hard lesson you have, both regarding the healthcare community AND family/social support. I feel particularly bad for the huge population of folks who are unable -- for whatever reason, it could be lack of insurance or it could be lack of education, or lack of funds -- to ensure their family receive the best care possible.
> My wife obsessively reviewed the same papers the doctors had, and some others. She carefully googled every term she didn’t know. She discovered [...]
And this is something we need to remember in between smugly asserting GPs' pre-eminance and denouncing "doctor google" patients who have web searched and think they know what they're talking about.
At this stage, a GP's education is nowhere near exhaustive when compared with a suitably motivated individual who has a scientific research education and access to the web.
If you find yourself getting low and want to talk to another grey beard hacker with spina bifida, just hit me up. I'm sure in my 41 years I can find something interesting to talk about!
By the way, they said I would never make it to 12 months, then 5 years, then I would be dead by 15, then 25....
41 years later...
(Yes, I know that this is anecdata. But that's definitely the best kind of data, amirite?)
> He’s lived a long and fulfilling life, a life I want my daughter to have.
I've only worked with three students with spina bifida in my career in special-ed but everyone of them was a positive-optimistic child with a lot of emotional intelligence. Everyone wants to befriend them because they are funny and kind.
Slightly off-topic question: emailing a doctor? I’m with Kaiser and doctor access is walled behind their kp.org site. No way to directly reach them, just messaging to their team, or via appointments.
> 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.
This makes sense and I don’t want to be insensitive but it got me wondering: has this experience changed the way you view abortion? I’ve heard “quality of life” as a strong argument for an abortion when doctors give a prognosis of serious or debilitating disease.
Just curious how your experience has informed your thinking on this subject.
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:
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!)
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.
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.
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.
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.
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".
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?
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.
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...”
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
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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.
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.
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.
[+] [-] escapologybb|6 years ago|reply
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|6 years ago|reply
[+] [-] bastardoperator|6 years ago|reply
[+] [-] wincy|6 years ago|reply
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.
[+] [-] eitally|6 years ago|reply
Thankfully my wife also persisted and three additional opinions later we found the right place with the right professionals and demonstrated experience and our daughter is doing great post-surgery.
We learned the same hard lesson you have, both regarding the healthcare community AND family/social support. I feel particularly bad for the huge population of folks who are unable -- for whatever reason, it could be lack of insurance or it could be lack of education, or lack of funds -- to ensure their family receive the best care possible.
[+] [-] taneq|6 years ago|reply
And this is something we need to remember in between smugly asserting GPs' pre-eminance and denouncing "doctor google" patients who have web searched and think they know what they're talking about.
At this stage, a GP's education is nowhere near exhaustive when compared with a suitably motivated individual who has a scientific research education and access to the web.
[+] [-] escapologybb|6 years ago|reply
If you find yourself getting low and want to talk to another grey beard hacker with spina bifida, just hit me up. I'm sure in my 41 years I can find something interesting to talk about!
By the way, they said I would never make it to 12 months, then 5 years, then I would be dead by 15, then 25....
41 years later...
(Yes, I know that this is anecdata. But that's definitely the best kind of data, amirite?)
[+] [-] jojoo|6 years ago|reply
I've only worked with three students with spina bifida in my career in special-ed but everyone of them was a positive-optimistic child with a lot of emotional intelligence. Everyone wants to befriend them because they are funny and kind.
[+] [-] barking|6 years ago|reply
[+] [-] eatbitseveryday|6 years ago|reply
Slightly off-topic question: emailing a doctor? I’m with Kaiser and doctor access is walled behind their kp.org site. No way to directly reach them, just messaging to their team, or via appointments.
[+] [-] ordinaryradical|6 years ago|reply
This makes sense and I don’t want to be insensitive but it got me wondering: has this experience changed the way you view abortion? I’ve heard “quality of life” as a strong argument for an abortion when doctors give a prognosis of serious or debilitating disease.
Just curious how your experience has informed your thinking on this subject.
[+] [-] pradn|6 years ago|reply
[+] [-] needlesurgeon|6 years ago|reply
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
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
[+] [-] escapologybb|6 years ago|reply
(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!)
[+] [-] RcouF1uZ4gsC|6 years ago|reply
[+] [-] 24gttghh|6 years ago|reply
https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5113a1.htm
Current source:
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.
[+] [-] ausbah|6 years ago|reply
[+] [-] wincy|6 years ago|reply
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.
[+] [-] barking|6 years ago|reply
[+] [-] dhkxh|6 years ago|reply
[+] [-] ChrisWilding|6 years ago|reply
[+] [-] wiradikusuma|6 years ago|reply
Thanks for sharing this.
[+] [-] benj111|6 years ago|reply
So I guess this is a quality of life thing, rather than a cure?
[+] [-] arkades|6 years ago|reply
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.
[+] [-] Fezzik|6 years ago|reply
[+] [-] ChrisWilding|6 years ago|reply
[+] [-] throwbobaway313|6 years ago|reply
[deleted]
[+] [-] anonlastname|6 years ago|reply
[deleted]
[+] [-] dang|6 years ago|reply
We detached this comment from https://news.ycombinator.com/item?id=19941245 and marked it off-topic.
[+] [-] anbop|6 years ago|reply
[+] [-] feydaykyn|6 years ago|reply
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|6 years ago|reply
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.