Spina Bifida is not primarily a genetic disease. It's caused by a failure of the neural tube in the developing embryo to close fully. No one knows the exact causes, but folic acid deficiency in the mother before and during pregnancy makes it more likely. It also seems to run in families a little, but only weakly, and we haven't identified any specific genetic cause. This treatment is very promising, but it's not a cure, just a (hopefully) even better treatment than the existing in-utero surgery that doesn't include stem cells.
Thanks for sharing about your daughter. It's good to hear from other parents dealing with it. My daughter with spina bifida is only 18 months. It's early of course, but so far she's right on track cognitively and socially. I expect she'll be in a wheelchair full time, but don't know for sure yet. She's also just the most joyful, loving, social, happy toddler.
I know what you mean about elevating otherwise normal kid illness. She had her first shunt failure in January. It was pretty stressful going from "hmm, she's fussy" to surgery within less than 24 hours. But she was back to her happy self with hours of the surgery too, which was a pretty stark indicator of how much the shunt is doing for her.
One of the nicest things anyone ever did for me was the day after she was born, when I had just started at a new job, an older dev asked if he could talk to me and pulled me into a meeting room. I didn’t know anyone there and was confused. He’d overheard me talking about my daughter just being born, and said “I’m nearly 60, I have spina bifida, and I want you to know it’s going to be alright.” He stressed how important doing a regular catheter routine is, as the most likely thing to kill him in the next 10 years is kidney failure due to bad catheter habits as a kid and young adult. Also, overnight foley catheters with a bag has been a lifesaver, and gave us our sleep back. The doctors often just won’t mention these things, and the quality of care can vary greatly depending on your care team, as I’m sure you’re well aware. At least the doctors seem to have some respect for us as caregivers to a medically complicated child and they often trust our judgment.
Hopefully it’ll make you feel better, but the shunt revisions became far less common for us as her growth slowed down. She had one around a year old, but they put a good amount of tubing in there, and they haven’t had to go do a revision in the past 6 years.
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.
Another sb parent here, my kid is seven now, she’s also on track intellectually. We got the decompression surgery for the Chiari II a few months after she was born, and the VP shunt even earlier than that. Aside from some stammering (which her non SB sister also has, so I suspect it’s hereditary), and weirdness with foods (OT has helped a lot) she’s totally on track intellectually.
Our daughter was a particularly severe case too, and these interventions seem to have helped a lot. For the first four years she’d hold her breath every time she was upset, and need CPR, but we got her breathing again every time, so we don’t think there’s any brain damage. If we’d missed once, maybe I’d be telling a different story now. Thank goodness her head grew!
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.)
Seriously. My son and I are about 3/4ths through Fellowship of the Ring after he loved The Hobbit. We’ve read all of Narnia, Wildwood, and many other (long!) books and book series together. Either his mom or I have read to him very nearly every single day of his life. I know he loves it, and it has made him love reading on his own too.
I have never once felt there weren’t enough good stories - written by humans - out there for us. Quite the opposite: there are more than we could ever get through in a hundred lifetimes. There’s no way an LLM can outdo Tolkien.
To be a little more precise, f is not a camera-specific constant. It's the focal length of the lens. It's a formula that tells you the diameter of the entrance pupil. So at a focal length of 50mm, an aperture value of f/2 means an entrance pupil diameter of 25mm.
But photographers generally just say "f2", meaning an aperture value of two set on the dial of the camera/lens. It's one stop faster (twice as much light) as f/2.8. It'll give you a relatively shallow depth of field, but not as shallow as e.g. f/1.4.
My experience with my Prius PHEV is the same. I don’t even have a level 2 charger. I just plug it in in the garage overnight, and most days I don’t use any gas.
The only time the ICE turns on before my EV range is up is if I hit the windshield defrost button when it’s cold. That’s presumably to prioritize getting heat out through the vents quickly. I’ve never accelerated fast enough, nor gone fast enough to trigger the ICE engine taking over. It’s straight up an EV for my first ~40 miles every day.
For what it’s worth, Philo Farnsworth and John Logie Baird were friendly with each other. I was lucky to know Philo’s wife Pem very well in the last part of her life, and she spoke highly of Baird as a person.
David Sarnoff and RCA was an entirely different matter, of course…
One of his electro-mechanical units was on display in Victoria, Australia. Most amazing assemblage, you can sort-of get the idea from things.
I read online that at his end, Baird was proposing a TV scan-rate we'd class as HD quality, which lost out to a 405 line standard (which proceeded 625/colour)
There is also a quality of persistence in his approach to things, he was the kind of inventor who doesn't stop inventing.
My understanding is that amyloid plaques can actually be seen with a specialized PET scan now, so it can be more definitively diagnosed in living people.
