
Spina bifida: Keyhole surgery repairs baby spine in womb - bauc
https://www.bbc.co.uk/news/health-48253477
======
escapologybb
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
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
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!

~~~
georgewfraser
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?

------
wincy
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.

~~~
eitally
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.

~~~
noobiemcfoob
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.

------
needlesurgeon
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
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
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)

------
RcouF1uZ4gsC
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
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/...](https://www.mayoclinic.org/diseases-conditions/spina-
bifida/symptoms-causes/syc-20377860)

tl;dr: folate deficiency is probably a main factor, but not the sole cause of
NTD's.

~~~
needlesurgeon
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.

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

~~~
wincy
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.

------
dhkxh
It's truly amazing that we can do this.

------
ChrisWilding
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.

------
wiradikusuma
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.

------
benj111
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?

~~~
arkades
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.

~~~
benj111
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
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
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
_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.

------
anbop
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
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.

