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Spina bifida: Keyhole surgery repairs baby spine in womb

127 点作者 bauc大约 6 年前

10 条评论

escapologybb大约 6 年前
This is amazing news, it really is.<p>Slightly off topic but I would like to address the people in this thread saying things along the lines of &quot;with a medical condition is serious as this, it&#x27;s better to abort&quot;<p>Yeah, fuck no.<p>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)<p>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&#x27;ve done this over the years)<p>So, speaking as a 41-year-old quadriplegic hacker with spina bifida who&#x27;s not on a ventilator; let me say that life finds a way. I was written off so many times it&#x27;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&#x27;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.<p>My life is great, yes I&#x27;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&#x27;s and exploiting networks and I feel incredibly lucky. I am so glad I was not aborted.<p>Okay, because this is the Internet it&#x27;s time for the caveats<p>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.<p>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.<p>[1]: I know, eww right? :-)
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wincy大约 6 年前
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).<p>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.<p>We were told children with this condition die.<p>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.<p>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.<p>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.<p>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.
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needlesurgeon大约 6 年前
Neurosurgeon here (long-term HN browser and my post).<p>If you&#x27;re interested in prenatal surgery for spina bifida (more specifically: for myelomeningocele), check out the MOMS trial:<p><a href="https:&#x2F;&#x2F;www.nejm.org&#x2F;doi&#x2F;full&#x2F;10.1056&#x2F;NEJMoa1014379" rel="nofollow">https:&#x2F;&#x2F;www.nejm.org&#x2F;doi&#x2F;full&#x2F;10.1056&#x2F;NEJMoa1014379</a><p>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.<p>This work stems from pre-clinical experiments using sheep:<p><a href="https:&#x2F;&#x2F;www.ncbi.nlm.nih.gov&#x2F;pubmed&#x2F;7585064" rel="nofollow">https:&#x2F;&#x2F;www.ncbi.nlm.nih.gov&#x2F;pubmed&#x2F;7585064</a>
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RcouF1uZ4gsC大约 6 年前
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.
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ausbah大约 6 年前
So is it immediately clear that the surgery was a complete success? Or is that something that will only be know with time?
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dhkxh大约 6 年前
It&#x27;s truly amazing that we can do this.
ChrisWilding大约 6 年前
My brother has Spina Bifida and it was a complete shock to whole the family when he was born as it hadn&#x27;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&#x27;s experienced from various medical procedures over the years. Seeing medical advances like this make me really happy, I only wish they&#x27;d existed 25 years ago so they could help him.
wiradikusuma大约 6 年前
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 &quot;normal&quot;.<p>Thanks for sharing this.
benj111大约 6 年前
I thought spina bifida was somewhat progressive. My Aunt has it, and could &#x27;walk&#x27; with crutches when young, then needed leg braces, and is now in a wheelchair.<p>So I guess this is a quality of life thing, rather than a cure?
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anbop大约 6 年前
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.
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