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?
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...”
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.
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.
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.
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.
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.
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.
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
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.
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.
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’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.
Thank you, she’s really the happiest and most gregarious little kid. Being in the NICU for six months the infants you see have far worse problems than she does, and we are lucky to live in a nation that she can get treatment, and that given that care her lifespan prospects go from a year at best to potentially 70+.
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.
Recognizing the medical industry as what it is can be really difficult. It's not just there is a bell curve of knowledge and ability, but something with more dimensions that accounts for a world as a big as ours.
Just like I'm sure there are software shops out there doing what I would call impossible, not all doctors know the full extent of the practice or where those particularly skilled practitioners might be.
I was abruptly fired and unemployed when my daughter was born, which paradoxically has saved us money in medical expenses, as a pregnant woman and her infant retroactively get Medicaid. So while we have primary insurance, the secondary Medicaid is active for a year before it has to be renewed (which we won’t do as my income is too high). It covers all the copays of her primary insurance and we haven’t had to pay a cent. It’s all been pretty surreal.
We also got to deal with a bizarre situation of me breaking the health insurance bank at the contracting firm I worked for. When benefits renewal came up at the end of the year only a high deductible plan was available at $1220 a month! So we dumped their plan (I feel bad for everyone else, but what was I supposed to do?) and bought her a $325 a month plan with a $500 deductible. Technically I didn’t have to, because of the Medicaid, but it made me feel like as someone who makes close to six figures employed, I shouldn’t be taking government benefits just because they’re offered.
> 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.
Hah it’s funny you say that because the engineer is well known as a hilarious guy at work.
She is our second child and while the first is very social and gregarious, she’s just off the charts in her cooing, vocalizations, and smiling. Every nurse and volunteer at the NICU just loves to hold her and spend time with her. I think she’s going to get along wonderfully.
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.
Right. It was via the social worker, she emailed the social worker and the articles and my wife’s summaries of it were relayed to the doctors.
The doctors attitude was totally different after that, it seemed like they had a lot more respect for her and they used the information to make medical decisions (like the clonidine and a decompression surgery)
Yep. I've looked into direct primary care which hole punches the doctor patient firewall, but I'm sure I'd have to negotiate a rate with the doctor for a special needs kid like my daughter.
In my city though there's doctors who accept $50 a month GP direct payment and you can email them and communicate directly with your doctor. I interviewed a few of them, had a casual hour conversation with one about ketogenic diet and he recommended some books. So different than regular insurance doctors where you get virtually no time at all. Obviously not everyone can afford it since it bypasses insurance completely, but it's still an interesting concept.
> 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.
My wife has more exposure to abortion related discussions because the Spina Bifida Facebook moms groups (there’s some dads but it’s almost all moms to be honest), constantly have women joining asking if they should abort. The mother’s feel strongly pressured by doctors to abort, but it’s a weird thing because you don’t know how bad the case is going to be. We’ve seen a dozen Spina Bifida babies come and go from the NICU, all of them with less complications than our little girl, and often home within a week. No tracheotomy, just a brain shunt and the back closing surgery.
It’s a tough question. There seems to be an implicit assumption in a lot of abortion arguments that a reduction of suffering should be a goal in life, but maybe some suffering and struggle isn’t so bad. I’m also fairly libertarian in that I support abortion rights even though I don’t think we’d personally abort. I heard someone say recently that with abortion, maybe ideally we don’t want to live in a world where people don’t feel that’s their only option. A lot of these children, despite the issues, sure they might have to catheter themselves a few times a day and give themselves enemas and sleep with a CPAP, but is that better than not existing? I think so, but I don’t think it’s my place to tell other people what to believe.
Life is certainly going to be a little harder for us, but even if she died tomorrow I don’t think I’d go back back and do anything differently, aside from maybe strongly encourage my wife to take a methylfolate supplement, which might have prevented the condition. My daughter certainly seems very happy to be here, and even though it hurts us, I think that it’ll be okay and maybe that can be okay. We’ve adopted a sort of Stoicism about it that gives my wife and I strength. I’m a person who also insisted on getting a colonoscopy with no sedation, so maybe I’m just a really weird guy.
I’ve been chewing on your question all day and that’s what I’ve come up with, it’s an interesting question and I think there could be a lot more nuance around the discussions maybe not of what the laws are surrounding abortion, but our ethical framework and thoughtful reasoning for getting an abortion. I certainly still don’t think it should be illegal. If you make it illegal you end up with crazy things like in Columbia (I think), a woman with three children was arrested after coming to the hospital having a miscarriage, and was accused of aborting her child. Awful stuff.
> sure they might have to catheter themselves a few times a day and give themselves enemas and sleep with a CPAP, but is that better than not existing?
Existing when everything's fine is barely better than not existing! This is horrific.
> I think so, but I don’t think it’s my place to tell other people what to believe.
It's even less your place to tell other people they have to live with conditions like this their entire lives. I will never have kids because of these risks, not until self euthanasia becomes completely legal.
I strongly, viscerally, and emotionally disagree with everything you said at a very deep level and that's as far as this conversation can go, sorry. I hope one day you can find more meaning in life and wish you all the best.
You should discount your visceral and emotional reaction. It is instilled into you by natural selection, which has no care for human suffering as long as we reproduce.
> 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.
We found that because the complications of Spina Bifida covers so many different medical domains, we’ve had to try to keep the cardiologists, the pulmonologist, the neonatologists, gastroenterologists, and the neurosurgeons AND neurologists on the same page.
The closest thing there is to a “Spina Bifida” expert we found was the head neurosurgeon at Washington university in St Louis, a state away from us. After complaining to the head of neurology at our children’s hospital we were able to send her test results and brain scans to him and get a second opinion. He definitely seemed to have insights other doctors didn’t, as well as not bullshitting us when he didn’t know something. He was also careful to point out that because he’d never actually examined her so his opinions were conjecture, not solid infallible facts. My favorite GP I’ve ever had told me “I don’t know, but I will find out”.
We’ve really learned to bristle when our daughters doctors present the face of absolute certainty. It gets really tiring when it results in them talking in a really indecisive way and not giving a straight answer.
I’m not a medical professional, but I’m a software engineer, I’m not a fool, but getting a doctor to straight talk to you the way an engineer would seems to be a rare event.
We’ve had pulmonology suggest a tracheostomy’s multiple times, without discussing the drawbacks of the procedure, and after lots and lots of careful questions, then reasking the question until we get “real” answers about the merits of the procedure it -feels like- the actual reason they want to do it, and the reason children who get a hole in their throat have better results than children without is because once your child is given a trach medical insurance will pay for in home nursing care. Extracting that information was painful and took days of trying to pin down doctors, but it’s really made us feel like the doctors are either incompetent, malicious, or just too busy to care and want us to go away.
Even getting them to “prove” she needed a trach via a sleep study was like pulling teeth to get scheduled, the doctors insisted on wanting to do it without the evidence then seemed irritated when the results came back that indicated the trach wouldn’t help her breathing.
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?)
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.
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.
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?
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.
The scenario I was describing is a little different: suppose we could detect spina bifida in an embryo before implantation. We could simply opt not to implant the embryo; it’s not the same as abortion, but it does prevent a person with spina bifida from existing. Is that bad in your way of thinking?
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.
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.
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.
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!)
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:
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[ 4.1 ms ] story [ 137 ms ] threadSo I guess this is a quality of life thing, rather than a cure?
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.
Are we talking about someone who has 10 years longer without a wheelchair, or are they never expected to need a wheelchair?
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.
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.
Thanks for sharing this.
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.
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.
Just like I'm sure there are software shops out there doing what I would call impossible, not all doctors know the full extent of the practice or where those particularly skilled practitioners might be.
We also got to deal with a bizarre situation of me breaking the health insurance bank at the contracting firm I worked for. When benefits renewal came up at the end of the year only a high deductible plan was available at $1220 a month! So we dumped their plan (I feel bad for everyone else, but what was I supposed to do?) and bought her a $325 a month plan with a $500 deductible. Technically I didn’t have to, because of the Medicaid, but it made me feel like as someone who makes close to six figures employed, I shouldn’t be taking government benefits just because they’re offered.
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.
She is our second child and while the first is very social and gregarious, she’s just off the charts in her cooing, vocalizations, and smiling. Every nurse and volunteer at the NICU just loves to hold her and spend time with her. I think she’s going to get along wonderfully.
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.
The doctors attitude was totally different after that, it seemed like they had a lot more respect for her and they used the information to make medical decisions (like the clonidine and a decompression surgery)
In my city though there's doctors who accept $50 a month GP direct payment and you can email them and communicate directly with your doctor. I interviewed a few of them, had a casual hour conversation with one about ketogenic diet and he recommended some books. So different than regular insurance doctors where you get virtually no time at all. Obviously not everyone can afford it since it bypasses insurance completely, but it's still an interesting concept.
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.
It’s a tough question. There seems to be an implicit assumption in a lot of abortion arguments that a reduction of suffering should be a goal in life, but maybe some suffering and struggle isn’t so bad. I’m also fairly libertarian in that I support abortion rights even though I don’t think we’d personally abort. I heard someone say recently that with abortion, maybe ideally we don’t want to live in a world where people don’t feel that’s their only option. A lot of these children, despite the issues, sure they might have to catheter themselves a few times a day and give themselves enemas and sleep with a CPAP, but is that better than not existing? I think so, but I don’t think it’s my place to tell other people what to believe.
Life is certainly going to be a little harder for us, but even if she died tomorrow I don’t think I’d go back back and do anything differently, aside from maybe strongly encourage my wife to take a methylfolate supplement, which might have prevented the condition. My daughter certainly seems very happy to be here, and even though it hurts us, I think that it’ll be okay and maybe that can be okay. We’ve adopted a sort of Stoicism about it that gives my wife and I strength. I’m a person who also insisted on getting a colonoscopy with no sedation, so maybe I’m just a really weird guy.
I’ve been chewing on your question all day and that’s what I’ve come up with, it’s an interesting question and I think there could be a lot more nuance around the discussions maybe not of what the laws are surrounding abortion, but our ethical framework and thoughtful reasoning for getting an abortion. I certainly still don’t think it should be illegal. If you make it illegal you end up with crazy things like in Columbia (I think), a woman with three children was arrested after coming to the hospital having a miscarriage, and was accused of aborting her child. Awful stuff.
Existing when everything's fine is barely better than not existing! This is horrific.
> I think so, but I don’t think it’s my place to tell other people what to believe.
It's even less your place to tell other people they have to live with conditions like this their entire lives. I will never have kids because of these risks, not until self euthanasia becomes completely legal.
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.
The closest thing there is to a “Spina Bifida” expert we found was the head neurosurgeon at Washington university in St Louis, a state away from us. After complaining to the head of neurology at our children’s hospital we were able to send her test results and brain scans to him and get a second opinion. He definitely seemed to have insights other doctors didn’t, as well as not bullshitting us when he didn’t know something. He was also careful to point out that because he’d never actually examined her so his opinions were conjecture, not solid infallible facts. My favorite GP I’ve ever had told me “I don’t know, but I will find out”.
We’ve really learned to bristle when our daughters doctors present the face of absolute certainty. It gets really tiring when it results in them talking in a really indecisive way and not giving a straight answer.
I’m not a medical professional, but I’m a software engineer, I’m not a fool, but getting a doctor to straight talk to you the way an engineer would seems to be a rare event.
We’ve had pulmonology suggest a tracheostomy’s multiple times, without discussing the drawbacks of the procedure, and after lots and lots of careful questions, then reasking the question until we get “real” answers about the merits of the procedure it -feels like- the actual reason they want to do it, and the reason children who get a hole in their throat have better results than children without is because once your child is given a trach medical insurance will pay for in home nursing care. Extracting that information was painful and took days of trying to pin down doctors, but it’s really made us feel like the doctors are either incompetent, malicious, or just too busy to care and want us to go away.
Even getting them to “prove” she needed a trach via a sleep study was like pulling teeth to get scheduled, the doctors insisted on wanting to do it without the evidence then seemed irritated when the results came back that indicated the trach wouldn’t help her breathing.
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?)
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.
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.
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? :-)
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!
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.
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
(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!)
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/30462658
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