My father in law passed away from it about a year and a half ago at age 64. Two of his kids have tested positive for the mutation. They don’t have symptoms yet (they’re in their 20s and 30s).
It’s sometimes frustrating to try to explain that the gene mutation in the family (PSEN1 in our case) means it’s a 100% chance you get it. Most people have never heard of it, so you get a lot of “well, maybe you’ll be lucky and it won’t affect you!” from well meaning people.
I’m very sorry for what you’re going through with your mom. My father in law had it and died a year ago at age 64 after 16 years of decline. Watching a truly brilliant person slowly lose their faculties and abilities until they don’t recognize their own family is awful.
Two of his kids have the mutation (not my wife, thankfully) and so we all hope that better treatments are available for them.
There are multiple specific possible mutations that cause 100% penetrant dominantly inherited early onset Alzheimer’s. And there are three genes where mutations can cause it: PSEN1, PSEN2, and APP. The average age of onset seems to depend on the specific mutation. In my (wife’s) family, onset is mid 40s to mid 50s. Some families get it even earlier, but 30s seems rare.
My wife’s family has PSEN1-mutation EAD (my wife didn’t inherit it). In that particular case it does seem that the mutated genes relate directly to Amyloid production and clearing, and there are ongoing clinical trials for the use of the new monoclonal antibody drugs in treating it. Two of my family members are in a trial for Remternetug, specifically. There is hope that in that specific case where 1. Amyloid buildup may actually be the cause and 2. you start treating it early, years before symptoms start, disease onset may be significantly delayed. There’s no way to know right now except to try it of course.
That is indeed part of the charm. The people who like swing lens panoramic cameras like the Widelux like that look. The alternative is something like the Hasselblad Xpan, or even just a panoramic crop from a regular camera. A swing lens does something unique.
Yeah, I've been waiting for it for years too. I thought it was going to be substantially more than $4400 (more like $6-7K). Under $1,000 is unfortunately simply impossible. Used Wideluxes go for a fair bit more than $1K.
That said, too much for me right now. Maybe someday.
Eddie Rocket's is an Irish chain of American diners. I've eaten there in Dublin. Although at least that location is downtown, and in a bigger building, not a classic diner style building. The inside is very much American Diner themed with vinyl seats, chrome, jukebox controls at the table, and of course the menu of burgers, fries, shakes, etc.
Many of the film cameras that people 3D print essentially outsource that stuff to off-the-shelf focusing helicoids which are readily available, along with medium or large format lenses which are traditionally mounted in a leaf shutter anyway. So the hard parts (lens, aperture, focusing mechanism, shutter) are not part of the 3D print itself. You're right that 3D printing a serious shutter mechanism for anything other than a pinhole camera isn't really feasible (yet?). It's the light tight box and the film transport that are completely reasonable to print.
Yeah, it’s really starting to depress me how much text published to the web is written using an LLM now. Things that seem interesting at first glance become much less appealing when they have that telltale LLM quality to them, and I also start questioning whether they’re full of factual errors (“hallucinations”). I don’t know why I should spend my time reading something the author couldn’t even be bothered to spend time writing.
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.
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.
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.