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As the brother of a young, amazing man who we lost due to another genetic ailment (CF), whenever I see stories like this, it makes me so hopeful for families in the future never having to see a loved one deteriorate due to a bad roll of the dice.

Hats off to everyone out there putting in the hours to make the lived experience of these folks much better than they would have otherwise been. If only we had more of you in the world.

Completely agree, this is why we need to detect bad rolls and give people the ability to reroll.

Tangentially related, but it is increasingly obvious that there's an ever-growing chasm between these two aspects of medicine in the U.S.:

- What's possible for medical professionals to do for certain conditions, in large part due to the amazing levels of investment into research and implementation.

- How difficult it is for ordinary people to receive care. Primarily due to private insurance companies intentionally making it more difficult to get care.

Like the fact we're giving stem cell therapy to fetuses successfully is amazing, yet any time I go to a doctor's office or bloodwork company I hear an elderly person explain to the front desk person that they've been on the same insurance for decades and only recently started receiving bills they can't afford, or listening to the front desk person explain that now medicare no longer covers them for a routine thing.

Ideally, we could have both great research _and_ great general care in this country. I just don't know if I will ever see that day.

I think the largest issue with health care right now is that the US is artificially shrinking the supply of Doctors. This is due to:

1. Size of medical school classes not increasing with population

2. US has an artificially small amount of residency slots.

These are largely due to AMA lobbying afaik and bad bills. But if we allowed every qualified medical student to enroll, and gave a residency slot to every graduate. In a decade we would have really shrunk the gap.

the largest issue in American health care is private equity and middle men raising the cost of everything.

edit if doctor scarcity were the issue then doctors would have a lot more leverage in salary negotiations than they do, which is to say they don't have much. because the hiring practices are limited by what they can bill, which they have no power over.

Conditions like SB affect the entire family.

Long ago, my next door neighbor's daughter had severe SB and was confined to a wheelchair, slow mental and emotion development, etc. Nobody thought she'd live, but in fact got to adulthood. It was basically a full-time job for her (single) mom.

Sadly, the divorce rate is over 50% for parents of spina bifida children. My daughter is almost 7 and my wife and I are happy, we have a good life and I’m fortunate to have a career that lets her stay at home to tend to our daughters multiple monthly doctors appointments, and one where I can largely work from home to help when she needs carrying (which is often!)

That said, our daughter is a miracle, she’s intellectually sharp, and we do everything we can to give her all the experiences any other bright and outgoing child would have. I hold her up so she can play the games she can’t reach at Dave and Busters, even if my arms get tired. We go on hikes with an expensive stroller that’s also a bike made for off road biking because we read Little House and she wanted to know what prairie looked like. We plan on getting an RV to take her to national parks.

Her wheelchair tennis coach recently tried an exoskeleton that allows him to walk at a research lab in New York, she was elated. She asks me when her robot legs are coming. I tell her we don’t know but robots in every house would certainly help that sort of technology move forward. I tell her “they’ve got to test it on adults before kids can get one!”

When she was one, they told us to make plans for the future, to get our affairs in order. Three years later the palliative care worker who had told us our child wouldn’t live past her second birthday came to visit us during a hospital visit and talk to us, so happy to see a case where they’d all been wrong. I’m so happy they were.

My high school hosted the county's special day class for kids with severe cognitive and physical disabilities, a majority from spina bifida. If this stem cell method can actually repair the spinal cord before birth, the quality of life improvement is absolutely enormous.

Incredible to see some promising results in stem cell research. Hopefully a safe and successful application can give a boost to some other areas where stem cells might prove useful (like maybe one day we can regrow damaged heart tissue like this).

The notion of "stem cells" are somewhat of a misnomer as modern biotechnology is showing us. There are an orchestration of probably 1000s of different cell types which can vary in their cell states. We don't have enough knowledge of how to use these various cell types to influence complex self-organization processes like development. But in some cases there are clever fixes without understanding the underlying process.

Best news is the stem cells used are from donated placentas. So no political footballs, just a true blessing to a child.

I did not even know it was possible to operate on a fetus. Its insane how far we have come. Very promising results!

The first episode of the Surgeon's Cut [0] on Netflix shows a doctor:

- operating in utero

- while the mother is awake

- in an outpatient/doctor's office setting

- to implant a balloon in the upper respiratory tract of a fetus with a, I believe, cleft palate so that it's lungs can develop normally.

It really is wild what modern medicine can do these days.

0 - https://www.netflix.com/title/81004466

Not only is it possible, fetal surgery is more or less standard treatment for spina bifida at this point. The news here is about the stem cell patch being applied during the surgery. (I have a child with spina bifida. We tried to get her into this trial, but did not qualify.)

What does the stem cell treatment help with beyond the existing fetal surgery? Since it's in addition to the usual surgical treatment

  The CuRe Trial is exploring whether stem cells can add regenerative power to surgery, potentially improving mobility and quality of life.
  
  “This is a major step toward a new kind of fetal therapy, one that doesn’t just repair but potentially helps heal and protect the developing spinal cord,” said Aijun Wang, co inventor of the placental-derived stem cell treatment technology and the study’s co-principal investigator [ . . . ].

Does the physical repair also help with the mental developmental effects? Children with spinal bifida often develop cognitive abilities much slower than children without it.

The main goal of physical repair of the defect in utero is actually to reduce the incidence of hydrocephalus and hindbrain herniation, which are very common in people with Spina Bifida. The existing fetal surgery reduces the incidence of hydrocephalus from about 80% to about 40%. The improvement in leg and bowel/bladder function is actually a secondary benefit.

My understanding is that the hindbrain herniation (aka Chiari Malformation Type II) is the main cause of cognitive trouble in people with SB. But it's worth noting that it's very far from universal in causing that. Most people with SB are basically normal cognitively assuming they get good early intervention (VP shunt, PT, OT, etc.). Some early cognitive development can be slower as a knock on effect of not being able to move around as much as a baby and toddler, and thus less able to explore the environment, etc.

Source: I'm the parent of a toddler with spina bifida. She's completely on track cognitively and with fine motor skills so far. She's way behind with gross motor skills due to her inability to move her legs very much.

Truly remarkable! Despite the darkness in the world most days, news like this lifts my spirits and gives me hope.

China is going to be way ahead of us in biological treatments because they are willing to actually remove the red tape and in fact encourage scientists to try these sorts of experimental treatments. Meanwhile, we have a dinosaur FDA, a bureaucratic academia second to only Europeans.

What's the plan in China for when one of these expedited treatments has a terrible side effect?

The FDA's slowness is about maintaining a low level of risk because the reputation cost of a really bad incident is huge.

Interesting - they had done surgery before, but not with stem cells. 6 babies operated on, results were very good and they are recruiting for phase 2

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There are people who do not want to have abortions. Either for religious reasons, because they themselves belong to a specific disability group (e.g. the blind and deaf) or because they tried hard already to get pregnant in the first place.

Especially for the latter, "make a new one" can mean a ticket reaching into the 6 figures, months of egg extractions, implantation attempts and spontaneous auto-abortions.

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so edgy

What a gross and idiotic take. “Just abort it”; i’m pro choice, but IMO life must be regarded as more sacred than what ‘ole tsss here considers. I can only conclude tsss has never dealt with any real loss in their life.