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Couple pay >$800k for a gene-editing therapy for their daughter. She died.

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Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#181

Post by arjie »

arjie wrote: post #37

What? The monkeys all had problems! Why do this? Just do PGT for your other kids. Come on, dude! Non lethal condition. Deranged behaviour. We did IVF with PGT and these days they tell you about carrier screening super early and everything here in California. I wouldn’t experiment on a real-life living human like this. A last ditch effort to save a life perhaps but come on, dude. If you're interested in the actual pro…

I told a friend of mine this and he pointed me to an article by another friend of ours: https://www.chinatalk.media/p/a-cancer-patients-tour-of-chin...

Here's the key quote:

> The tradeoff is pretty straightforward: the US system emphasizes uniform standards and upfront rigor, while China’s [investigator-initiated trial] model pushes decision-making closer to the doctor and the patient, making it easier to start trials quickly and iterate as data comes in

It's clear that they are prioritizing iteration over standardization - which is a good pathway to exploration but will yield results like this. In the end, we're all going to benefit from the new research coming out of China as they subject themselves to this high-variance policy.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#182

Post by Our_Benefactors »

laughing_man wrote: post #131
Hansenq wrote: post #47

This is a tragic story. But it is also a story about the lengths that parents in China will go to improve the quality of life for their only child or to "save face" to their social circle about how their child is performing relative to others. It's quite tragic that they felt the need to lean into this treatment and quite tragic that they were led on. Just a sad story all around.

China officially ended its one-child policy in 2015. Barring medical reasons, there was no reason for their daughter to be their only child.

It’s been ended officially but due to social pressures to “put all your resources into one child” as the parents were accustomed to, having just one child is still a strong cultural factor. The CCP can’t just flip a switch and suddenly the whole culture aligns with having many children.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#183

Post by fgimenez »

maxall4 wrote: post #58

I'm honestly quite shocked that the physicians/scientists involved would choose to use an AAV for a brain-targeted gene therapy. There is just so much data demonstrating that these vectors are quite immunoreactive: most of the approved gene therapies based on AAVs carry black box labels for liver failure caused by an immune reaction to the viral capsid. Admittedly, AAVs are the most derisked vector for gene therapies…

[Note that I work in this field and have co-founded a CNS AAV company]

This isn't the correct takeaway. AAV are one of the most complex drug modalities and carry considerable risk when used incorrectly. This story is tragic and violates pretty much every ethical consideration for a clinician researcher. Especially ones that are treating children of desperate parents.

That said, AAV are one of the most powerful delivery mechanism we have to deliver gene therapies to the brain. Uniqure has shown the first efficiacious treatment of Huntington's disease with intraparenchymal delivery of AAV5, Zolgensma is a brain targeted AAV9 to treat SMA, Kebilidi is an intraparenchymal AAV2 that treats AADC deficiency.

The general approach should be to keep dose as low as possible and minimally expose the periphery. AAV9 at large doses delivered intrathecally without standardized immunosuppression is simply insane.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#184

Post by kazinator »

senderista wrote: post #76

Many years ago I was attending pre-surgery for a hip replacement surgery for my sister, who had known severe reactions to anesthesia (actually required a tracheotomy for a previous reaction). The anesthesiologist asked to speak to us privately and informed us that in their opinion, my sister had maybe a 1/3 chance of not surviving the surgery. They also mentioned that this was a breach of protocol and they could get…

Is that even legal? Can a bunch of people decide to go ahead with performing some procedure that has a 1/3 chance of killing the person, whose life is not in danger if it is not performed? If that person dies, that's seems like murder.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#185

Post by preg_match »

RobotToaster wrote: post #146
Loughla wrote: post #86

Earlier quoted context omitted.

The problem is, how do you know when to advocate for yourself? I have zero idea if what the doctor is telling me is accurate or not. I'm not a doctor. This is why people are moving away from main stream medicine, in my opinion.

"do your own research" may get mocked, but it's often the best strategy. You just have to make sure it's the right place, professional guidelines, pubmed, and anyone referencing those is usually best. A good doctor won't have issues discussing something from that kind of source.

Right, and the approach here isn’t to take the research at face value. It’s to take the research and derive questions, and then ask your doctor. You can be aggressive.

I had a rare and very complicated surgery for my cancer. I researched it heavily, and going into the appointment I already knew how the surgery should be performed. I asked the surgeon many questions, including how often he performs this surgery, for how many years, and how many complications he has. He was a bit offended. I also asked him how he would do the surgery, and he told me a rarer, more complicated method that is typically reserved for pre-chemo patients (chemo melts your insides, makes some surgery more complicated).

I told him this was unusual, not standard of care, and that I was skeptical. And he methodically laid out why I was a good candidate even though I’ve had chemotherapy. The surgery was very successful, and he was a fantastic surgeon.

But you still have to push. And if you don’t get the answers you need, you go somewhere else.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#186

Post by preg_match »

iambateman wrote: post #109
ipaddr wrote: post #97

Earlier quoted context omitted.

Always advocate and avoid delegation to experts who have little stake in the outcome.

Parent had a good question and this is restating what’s already been said. _how_ do you advocate? If I could avoid delegating to experts, I wouldn’t be in the situation in the first place.

Ripped from another comment, I’ve gotten good at advocating for myself:

Do extensive research before hand. AI can aide research, but you have to prompt it right. Tell it to do web searches, and tell it to only use trusted vetted sources and papers.

And the approach here isn’t to take the research at face value. It’s to take the research and derive questions, and then ask your doctor. You can be aggressive.

I had a rare and very complicated surgery for my cancer. I researched it heavily, and going into the appointment I already knew how the surgery should be performed. I asked the surgeon many questions, including how often he performs this surgery, for how many years, and how many complications he has. He was a bit offended. I also asked him how he would do the surgery, and he told me a rarer, more complicated method that is typically reserved for pre-chemo patients (chemo melts your insides, makes some surgery more complicated).

I told him this was unusual, not standard of care, and that I was skeptical. And he methodically laid out why I was a good candidate even though I’ve had chemotherapy. The surgery was very successful, and he was a fantastic surgeon.

But you still have to push. And if you don’t get the answers you need, you go somewhere else.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#187

Post by gamblor956 »

brianwawok wrote: post #179
itishappy wrote: post #107

Earlier quoted context omitted.

> The lesson for me is that you must advocate for yourself and your loved ones in the medical system, because doctors will not do it for you; they may not even perform the most basic risk assessments. And you have to try to quantify risk yourself, because doctors will refuse to give you the slightest hint of any number attached to risk (I know, I've tried many times). Doctors vary wildly, and that's part of the issue…

What do they call the guy that got the lowest grade in medical school? Doctor

They actually don't call them doctor, because the lowest grade in medical school is an F and plenty of wannabe doctors flunk out every year.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#188

Post by schainks »

itishappy wrote: post #107
senderista wrote: post #76

Many years ago I was attending pre-surgery for a hip replacement surgery for my sister, who had known severe reactions to anesthesia (actually required a tracheotomy for a previous reaction). The anesthesiologist asked to speak to us privately and informed us that in their opinion, my sister had maybe a 1/3 chance of not surviving the surgery. They also mentioned that this was a breach of protocol and they could get…

> The lesson for me is that you must advocate for yourself and your loved ones in the medical system, because doctors will not do it for you; they may not even perform the most basic risk assessments. And you have to try to quantify risk yourself, because doctors will refuse to give you the slightest hint of any number attached to risk (I know, I've tried many times). Doctors vary wildly, and that's part of the issue…

> If there are 10x and 0.1x engineers, you bet there are 10x and 0.1x doctors.

This is a false equivalency, as the 10x engineer is measured differently than a great doctor. A 10x doctor in your analogy should mean "this doctor is least likely to kill you during surgery", or "is better at following checklists".

The "best" doctors I've met have off the charts systems analysis skills, and they were in all kinds of specializations. Human physiology can be quite counter intuitive at times, and great doctors have great observability skills.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#189

Post by khazhoux »

schainks wrote: post #188
itishappy wrote: post #107

Earlier quoted context omitted.

> The lesson for me is that you must advocate for yourself and your loved ones in the medical system, because doctors will not do it for you; they may not even perform the most basic risk assessments. And you have to try to quantify risk yourself, because doctors will refuse to give you the slightest hint of any number attached to risk (I know, I've tried many times). Doctors vary wildly, and that's part of the issue…

> If there are 10x and 0.1x engineers, you bet there are 10x and 0.1x doctors. This is a false equivalency, as the 10x engineer is measured differently than a great doctor. A 10x doctor in your analogy should mean "this doctor is least likely to kill you during surgery", or "is better at following checklists". The "best" doctors I've met have off the charts systems analysis skills, and they were in all kinds of speci…

It was an analogy, not an equivalency. There are any number of differences one can find.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#190

Post by khazhoux »

gamblor956 wrote: post #187
brianwawok wrote: post #179

Earlier quoted context omitted.

What do they call the guy that got the lowest grade in medical school? Doctor

They actually don't call them doctor, because the lowest grade in medical school is an F and plenty of wannabe doctors flunk out every year.

What do they call the guy who got the lowest possible passing grade in medical school?
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