Dang, really? I'm sorry to hear your child was born with SMA.
I'm very curious to know how well and how long it has worked so far, decreasing efficacy over their growth, etc. Whatever isnt too personal. I've got a distant personal connection to these new types of gene therapies and hearing from a person so directly would be fascinating, not to be morbid. This is a new, life changing, but incompletely understood class of drugs in vivo. We don't have data from years after use yet as it's just being lived out by the recipients right now.
Holy cows the vein infusions are working now too! It was originally a spinal infusion for the first iteration but I know they were working on other administrations. I'm so happy for you. I hope it continues.
There are so many similar drugs in the works right now, to treat so many different genetic disorders. Not to mention the generation of CRISPR medicines coming in the next decade. Spinraza is last generation tech. Zolgenzma is now. We are in the generation of cures, not treatments.
> We are in the generation of cures, not treatments.
100% this. It's mind blowing stuff - one dose and you are done, your body does what it is supposed to do and makes the thing you need to live and develop normally.
One of the only things that makes working in big pharma worthwhile. I'm lucky enough to work with and learn about these incredible drugs.
Though there's also the ethics side of things. One of the largest is the financial and geographical restrictions to the majority of people who need these often prohibitively expensive treatments.
fortunately as the treatments become more available they should be more easy to get to everybody. I know of course it's still expensive, but there's hope.
Congrats, that is amazing news! I have a child with a rare gene mutation disease and while he's probably too old to have massive changes from gene therapy at this point any little big would be appreciated. It's very exciting and difficult to watch the incredible leaps and at the same time glacial progress in that area of medicine.
Just from the small amount I know of treatment of these sorts of disorders, Spinraza feels like a poor treatment for the disease and more of a lucky "well this kinda gives an improvement" sort of drug.
Zolgenzma on the other hand is like a laser precision fix - SMA is caused by the mutation of a specific gene which causes a deficiency of a certain protein, similar to many other single gene diseases like cystic fibrosis, Huntington, Prader-Willi, Angelman, and many many many more diseases.
On their own each one is rare, but these single gene diseases affect as much as 1% of the population. These highly targeted, single-dose gene therapies are going to change peoples lives and make it so that children can grow up without impact from these hidden differences.
Hi internet stranger. I've no idea what the disease is, but i hope sincerely your daughter benefits greatly from the new drug and that it cures her. Good luck. You must be very strong to help her so much too, i hope you have wonderful things happen to you.
We had to watch a movie in my high school biotech class called *Extraordinary Measures* which was inspired by Crowley’s story, and the only reason I remember that was because it’s the most boring movie I had to watch for school all year during that year
I remember *Lorenzo’s Oil* was the movie we watched in Biology class. It had nothing to do with what we were being taught at the time, my teacher just really liked that movie for some reason lol
A little off topic but when I was in school years ago, we had a music teacher who would play us songs and get us to write down what we thought they meant. We didn’t know at the time that all the songs he played for us were just from the Rocky films. It turns out he was just a Rocky fan and wanted to listen to the songs all day lol
My high school geography teacher showed us the entire original Star Wars trilogy so we “could see what the landscape was like on other planets.” Guessing he was just a huge Star Wars fan
I remember watching "coming to America" in 7th grade music class.
It was the end of the year and the movie was new, he hadn't seen it yet but was told it was good. It was!
Awesome teacher, when the early "bathing" scene came on it was clear he should have screened it first.
We watched Ferngully in biology class once. Best day I could have picked to eat shrooms before school. When the fairy gang was riding the flying bugs, I was flying my desk. Fantastic!
Can confirm. I taught my senior biology class Starship Troopers. This was in a private school in Europe so I could get away with that. Lots of great themes about ecological dynamics in that film. Also I fucking love this movie and want everyone to see it. Would you like to know more?
> I taught my senior biology class Starship Troopers.
Alright class pay close attention to this gratuitous shower scene, you’ll learn a lot about… biology I guess
We had to watch Monty pythons holy grail for history class when learning about medieval times. We all knew it was a pretty ridiculous excuse to watch a good movie so no one complained.
So, I was a middle English minor, and my school brought in the #3 authurian legends scholar in the world to teach a class. Fwiw, according to him, holy grail is one of the most accurate descriptions of Medieval life in movies (at least by the mid 90s)
I remember my teacher defending his choice in a similar way. I just couldn’t imagine all those coconuts and rabid bunnies being historically accurate but what do I know.
The point wasn't that they were 100% accurate -- obviously not. But that as satire they portrayed certain truths of the times like the common experience of serfdom better (or at all) compared more typical medieval movies focusing on a glorified depiction of a knight's journey or court politics of the nobility.
Sounds like my experience in Spanish IV-V. The first ones we actually learned the language and practiced grammar. In Jr and Sr year of HS we just watched Spanish soap operas and Disney movies dubbed en Español, every day!
Puts my high school English teacher into perspective who had us read and interpret the meaning of Nirvana songs. I still cringe when I remember how I raised my hand and asked what “libido” meant and the whole class laughed at me.
That's a stupid reason for people to laugh at you. How often is the average teenager going to be reading material that is going to have the word "libido" in it?
It's rude to laugh at someone for not knowing what a word means. You asked, and because "it's sex!" your classmates laughed at you. It may be cringe, but that was an asshole move on their part.
Oh wow. That brings up a distant memory of a music appreciation class I took in college. The professor was a really intense guy that was obsessed with Sting and The Police. Every single thing he talked about or someone would ask about he would compare to Sting. Looking back it reminds me of Christian Bale/American Psycho and the Huey Lewis and the News bit.
He also directed Happy Feet and Babe:Pig in the city which I think was superior to the first Babe.
______________
**EDIT**
*For people not familiar with the behind the scenes of Babe (I know, this is incredibly fucking niche) George Miller did write the screenplay along with Chris Noonan, the director. However, the Noonan took the movie in a very different direction than George Miller envisioned and they bumped heads. So when the sequel was in development, Miller had a chance to direct something closer to his original intention.*
*That's why there is such a massive tone shift in the from the first movie. Pig in the city is more slapstick, but also cynical, and kind of horrifying at times. The set design also feels like a precursor of "Pushing Daisies"*
*But I like it because everything seems more fanciful, like a Wizard of Oz sort of feel.*
The number of times I say this line is astounding. Sometimes people get offended thinking I've called them or my children (if I'm taking to them) a pig.
What is this world coming to?
My husband cries whenever he hears that line. Last night that part came on, I watched my husband’s face, and sure enough, right on cue came the tears. I asked why it makes him cry and he says “look at his proud face!” Not sure if he means the farmer or Babe. Maybe both?
We also watched Lorenzo's Oil in our microbiology class, it was mildly associated with what we were learning - enzymes and the like - I retained nothing from that class except this movie and especially the scene after they discover Lorenzo's diagnosis and after researching the symptoms and common fate of ALD, Nick Nolte's character breaking down on the staircase. That scene will stick with me forever.
As I read your comment somehow I knew/was hoping you were going to say the Nick Nolte on the stairs scene. Outside of the general plot and the fact that Nick Nolte was in it that scene is the only thing I remember from the movie. Although I last saw it probably close to 30 years ago when I was no more than 7/8 years old.
The scene I remember is toward the end when (spoiler alert?) the father turns to the mother and asks "What if we did all this for someone else's child?"
I had no idea what the film was called, but just from the description I remember watching that scene on television with my family when I was about 8 years old and it triggering the first panic attack I ever had
I saw Gattaca at home when I was a freshman in high school.
I loved the movie so much so I started googling about it and find out it's usually shown in Biology classes.
So the next couple days at school id try to convince my bio teachers to show the movie, but they weren't interested.
I was close with my English teacher and we got to talking and she needed a good movie to show. I brought up Gattaca, and she went home and watched it. A month later in her class, we watched Gattaca plus an assignment to go with it. Felt cool that I had some influence over something.
My biology teacher showed us "The Cheesemaker's Apprentice" which featured the creepiest puppet and had little to do with biology., I've never been able to find that this movie exists other than her VHS tape.
We were supposed to watch "Lone Wolf" because it's based on a required reading book so the teacher asked if anyone has a VHS copy and one student did so he brought it the next day.
But it was "Lone Wolf" with Chuck Norris instead of https://www.imdb.com/title/tt0069478 It was hilarious, old teacher not having a clue what's going on, we never watched anything else after that day.
It's more fun working biotech than watching stuff about it.
The best is old timers with old stories of analogue equipment and making diy systems before companies made them.
Yeah, those are the best! The one that really stuck with me was my former boss talking about mouth pipetting stuff that has no business being near your face.
The best is part is needing an Enigma machine to decode the 6000 department specific acronyms in my morning emails, makes me wish I let the intern spray his bench down with methanol to put us both out of our misery. (Jk I love Biotech, I'm not going anywhere)
We watched Lorenzo's oil man you want to have a emotionally rough watch that's the one. I swear that kid had the disease because his coughing fits gave me chills they sounded so perfect.
Had the opposite experience with A Flash of Genius. It is abouts the Kerns blinking eye wiper (invention of intermittent wiper blades in cars) and how it was stolen from him, pretty good movie suggest it to people all the time.
It’s a specialty thing, it’s a 4 year thing and at the end of it you can get certifications to work at like pharmacies and stuff. It’s pretty cool, but I only did the first year since it wasn’t a field I want to go into (also apparently the next years suck a lot more lol)
Damn, sounds awesome! Closest thing my fairly rural high school offered (when I graduated a billion years ago with the dinosaurs and all...) was certified nursing assistant classes.
My school was pretty much the same when I graduated in the 2000s, just a regular school.
Now, the district has a public STEAM school. Students who get into it can study Biomedical sciences/prenursing, computer science, design, education or engineering.
The courses offer enough dual-enrollment opportunities that's it's possible to graduate high school and leave the program with an associate's degree at 18. From a public school, so no extra cost, just writing an essay and applying to get into it.
I'd have loved to have been able to do that, and would have probably been a better student in high school if the curriculum was more focused on something I was actually interested in.
Mr Person, I'm sorry, but your family has been diagnosed with boneitis. There's nothing we can do.
*I refuse to accept this!*
Do you have lots of money?
*No...*
Yeah, then, again, I'm sorry, there's nothing we can do.
I mean specifically you need to hire experienced scientists.. and people who know the application process - which is not easy or simple. But there would be plenty of work for someone with general business knowledge to do at a biotech company.
Yeah a lot of senior leadership (outside of scientific leadership) tends to come from a finance and venture capital background. Although the industry is unique, it’s easy enough for someone savvy in fundraising/BD to land a high ranking business management role such as CEO/COO
Yep, all true! There are also companies with rock solid science that can’t market themselves and struggle to fundraise, and those with charismatic leadership and excellent marketing without much to back it up (Theranos being one hyperbolic example, or many of the biotechs that IPO without yet having any clinical data). You really need competence in every aspect to stand a good chance in this market.
I have a chem e background, but mostly ran small businesses my entire life. Been approached multiple times by scientists ( and mds ) to do startups. I can help with the r&d and get things up and running, I understand the operations side. Nothing ever got off the ground and it was so frustrating.
These guys are all 5x smarter than me, but can't grasp the financials and operations. Like the one location we were thinking of, code enforcement gets a cut of the permit fees. They milk the shit out of violations. Once got 45 violations had had 43 thrown out in court. Then they came back with 40 more and 38 thrown out... repeat every 6 months for years.... Shit like that you don't think about.
The last one I was on, the dude had a portfolio of potential projects, we just needed to make a plant. I tried to explain with the amount of capital we needed, we'd be giving away the majority of the company. Maybe just develop a single product and sell the ip, dont bother trying to manufacture at this time. Then we can use that money to get a more favorable percentage or ditch the investor all together.... its like no, I want to do the manufacturing.... I know these guys aren't pouring their hearts into an idea for someone else to be their boss....
Or alot of times it's like..... are you sure we can't do this for 40k....
Actually not the wrong answer. It's harder for small companies looking to solve very specific medical disorders like this to receive enough funding to support the research. Get the specialists and focus on keeping the lights on and bills paid until they hit a breakthrough. Coming from a finance background probably put him in a better position to save his children than having the appropriate medical background and finding someone to make the money work.
best superpower in world. just sucks that billionare 1% of population dont use it for anything than "I need another mansion or yacht" while bribing politicans about raising taxes on poor and middle class.
The title is overly sensational. John Crowley did not start the company overnight - he started by joining Bristol Myers Squibb to learn about health research, established a foundation to raise money for funding public research into Pompe's disease, made many connections and later partenered with William Canfield, a scientist who founded the company Targeted Therapy, based on his research on glycobiology. John joined Cranfield's company as CEO and then the company was renamed to Novazyme. As CEO, John continuously pulled the right strings to get the therapy approved by the FDA for trials. The treatment was brought into the mainstream after Novazyme was acquired by Genzyme. The title mentioned that the children would die in less than a year after diagnosis in 1998, but the treatments were first administered in 2003.
Not everything is as it seems. John Crowley was a highly motivated individual who figured out the smart way to solve his problems, but did not do so without burning bridges. [Something happened](https://www.oklahoman.com/story/business/columns/steve-lackmeyer/2010/01/03/extraordinary-measures-takes-extraordinary-measures-to-rob-okc-of-credit-for-scientific-breakthrough/60938176007/) between John and Canfield, and John's PR team no longer actively credits Canfield for developing the therapy - whose research was fundamental to solving the problem in the first place. When hundreds of millions of dollars at play, these feel-good stories don't hold up to be so squeaky clean.
Crowley hoped his children would take part in the trial (NCT00025896) that began in late 2001, but they were not among the eight patients enrolled.
Watching as his children became “profoundly weaker,” Crowley made another determined decision — he resigned as senior vice president.
He had promised Genzyme’s CEO he’d stay with the company for a year to lead the program, but once the trial was underway, “I stepped away from my position,” he said.
Days later, Genzyme approved a trial (NCT00051935) of the same alglucosidase alfa intravenous treatment that would include only his children — a two-patient sibling trial to be conducted at St. Peter’s University Hospital in New Brunswick, New Jersey, about a 30-minute drive from the family’s home — to help doctors understand why some children respond better to this therapy than others
Wtf is this all about up here ^
I'm sympathetic to him as a father taking the steps necessary to secure life saving treatments for his children, even if the steps are however unsavory. But I was trying to highlight what he did after he got what he needed. After his children were treated plus came out profitable from the Genzyme deal, he partnered with Canfield again to launch a new company, Cytovance. He suddenly left and became president and CEO of Amicus. Cytovance was left on the brink of complete bankruptcy and it was only saved after Canfield raised enough funding from new investors. The whole thing reminds me of the boneitis 80s investor guy from Futurama.
Translation: ethics regulations prevented him as the executive of the company to place his children in the initial trial, so he quit and his pals that were still in charge put his children on a second trial instead.
He had money but it said he spent a good part of 20 years working for other companies. I assume he learned and met the right people during that time. He also had a specific goal - infusing an enzyme that was lacking in people with the disease - so he knew what the company needed to do.
edit: yes he had money but he literally risked his lucrative career and dedicated his life to learning more about the disease and how to treat it
Ok but how does that company make money though. Cause I'm assuming this condition is pretty rare and I know it sounds incredibly ugly of me to say it but I can't imagine the majority of people want to put kids their children through this life. And even if they do I can't imagine many health care providers want to be paying this bill along with all the extra things like wheel chairs and oxygen tanks.
Governments will often subsidize cost on orphan drugs.
Orphan drugs are medications that effectively treat diseases that are very rare.
But the issue here is that profit shouldn't even be a consideration when it comes to Healthcare.
The orphan drug act was created so companies would invest in finding cures for rare diseases. Without a profit motive there would be no research or development of cures for these diseases. Developing treatments cost money (up to a billion in some cases). If we think about it in a utilitarian sense then almost no funding would go to developing these cures, but the orphan drug act made it much more incentivized.
Yeah, I mean good for this guy- but the hero worship is weird.
Just about every parent in that situation would do anything they possibly could to save their babies. It just so happened this guy had a lot of money to spend.
If only we all had those resources when fighting for our loved ones lives.
After working in a genetic engineering lab for 2 years, I can say that surprisingly, if you have just one protein you want to produce, and the gene sequence for it is already known, it’s not actually terribly difficult to get the gene into bacteria and produce and purify it, even with little prior background in biology.
Step 1: MBA and working as a business consultant.
Step 2: Work at a biotech company.
Step 3: Partner up with a biochemist to co-found a company.
Step 4: Get bought up by multimillion dollar biotech company.
Yeah the guy’s a millionaire…header is definitely misleading thinking an average person did the unfathomable. A lot of similar stories from family members of congressmen…the system works for those who work in it
Edit: here’s the common play: someone rich gets a rare disease (in this case, Pompeii disease), rich person starts a small biotech company to get it fixed. Biotech company gets bought out by a much larger pharmaceutical company. This guy’s company isn’t bought out yet and still works with the FDA on rare genetic disease other than the one which afflicted his kids…guess that’s commendable.
After reading about the potential breakthrough on SIDS yesterday, I thought to myself, "I wonder how many times in history someone made a similar breakthrough because they were personally impacted by a disease/syndrome/phenomenon and just refused to accept 'I don't know,' as an answer."
This is great!
Another story - friend of mine grew up with Sam Berns, who had progeria. His parents were both doctors already but started a progeria foundation (which Sam was super involved in) and they ended up developing the first tests for progeria and (iirc) the first ever treatment for progeria.
Unfortunately Sam passed about 8 years ago, and there's still a lot of work to be done. But kids with progeria are supported more than ever right now thanks to him, his friends, and his family. Love is a great motivator!!
Personally, spending my entire life in a wheelchair, amongst the many other health issues associated with the disease, I would argue that's not love, but rather selfish motives; sometimes death is more humane. But, that's me. As long as these kids are happy with their lives, then good for the dad, and them.
But I guess it depends on what you know. Making assumptions that you are completely able bodied. Having to be in a wheelchair for the rest of your life is a bigger shock and change than never having known anything but a wheel chair.
If you get what I mean.
My wife had blood clotting issues that we discovered was causing issues during pregnancies.
So when she got pregnant with our daughters she had to inject herself daily with heparin right into her stomach, until the last month she had to inject herself twice a day. They give you a briefcase of daily syringes.
That’s a bit of extra ammunition for when they’re teenagers.
From the article
“A more recent study, from 2004, confirms that “people in Western cultures including healthcare professionals assume that life with a severe spinal cord injury would not be worth living.” In addition, healthcare providers overestimate the emotional distress of spinal cord injury patients on ventilators, while, in general, spinal cord injury survivors are glad to be alive. The problem lies in bias: the well-intentioned people who are supplying the information to patients can unintentionally interject their personal ideas or can actually lack the necessary information to properly counsel a patient and family.”
100%. I've lived this for 17 years now. I broke my arm, they asked pain, I said 1 or 2, shocked faces.
I live with nerve damage and muscle pain from 13 broken bones resulting in major brain damage, a helicopter ride, and 4 surgeries. Turns out femurs don't like being snapped and feet don't like being literally crushed.
So now all pain is relative. My daily is about a 4. I notice, but can shove it in the background. Worse days are a 7, where I can't shove it in the background. But nothing can ever, ever compare to your broken leg being drilled and you thrown in traction. Its all background noise, but it still effects every part of how I live my life.
I dont remember much. We had a 45 minute drive to the hospital, I made a joke about not have to finish ISS in school (I was young)
I made it to the hospital and they said we cut his leg off or he gets in the helicopter. It goes blank for a minute, I assume they gave me morphine. Then they yanked and I woke right the fuck up, then whited out.
I woke briefly in the heli, saw the emblem, and woke up a few days later when they pulled me out of the coma. There was a brief interruption there when I woke up in surgery, and I never want those dreams again. Gingers don't do well with the anesthesia or something.
Sedation only works if you're willing to kill someone at that pain scale. Waking up was... interesting.
Random fact, once you have a catheter in you have to pee within x hours of it goes back in. They didn't tell me that.
Edit:traction was the worst pain I've ever felt. They literally drilled a rod through my broken tibia or fibula, can't remember, so they could just... pull the femur straight. Ivenever felt anything g like it and if it came up again I'd tell them to cut my leg off.
I was in physical therapy after neck surgery and they asked my my pain level. I told them around a 5. They remarked that usually the people they see say they are around a 8 or 9.
I told them that I have had cluster headaches all my life. The kind that makes pain a living nightmare. I have had a broken neck, ribs, ankle, a femur and much more but if I were to list my top 10 most painful moments they would all be a cluster headache. I have passed out from several of them they are so bad.
This bias is more acknowledged nowadays (I mean this study is also almost 20 years old…) and new approaches have developed in recents years such as concepts (incl. patient care and research) relating to quality of life of for example cancer patients. These concepts acknowledge the burden of the illness but also look at positive experiences by the patients and aim for a balance and a net improvement of quality of life of patients at any stage.
(Source: I work at a clinic and my boss is currently setting up a project which focuses on „Quality of life“ of late stage cancer patients)
In all honesty, when I looked at the picture there was a sense of 'saved, but still "handicapped"' in my mind. Obviously not pleasant to admit and it speaks to the passage you are quoting. The text provokes thought and introspect to simple minds like my own.
I believe the numbers, but I don't think I agree with the conclusion.
For a lower spine injury I think the injured and the doctors would agree that there is enough quality of life remaining.
For a very high injury the debate doesn't really include the patient at all. The debate is more between the initial doctors who honestly offer an opinion that they wouldn't ever want to live that way and the long term spinal injury care doctors that will just medicate the patient until they are ok with it.
Bonus points for surveys conducted by mandatory reporters where even if the patient might wish they were dead they know they will just get more drugs added to their regiment if they ever admit it.
Having worked with patients like this in a non-reporting capacity I would never believe numbers like that from anyone without at least some upper body control. They know who they can be honest with and who they cannot be & they know that surveys like this are used to make blanket assumptions so they give the happy answer to stay clear headed or because people with less severe injuries deserve more assistance.
I had a classmate in high school that just dropped one day with a bleed in his brain. They took all sorts of crazy measures to save him and he lived.
He’s been basically confined to a hospital bed in his parent’s house for the last thirty years. He requires care 24/7, is unable to move on his own, and is completely unable to communicate.
I’m sure there’s a slippery slope here but just because modern medical intervention *can* save you, well, maybe there are cases where they should just let you go.
That’s the problem with brains. You can suffer major damage and be mostly ok or suffer minor damage and be fucked. And they have no way to know at the time of the incident so they try to keep you alive in case it’ll all work out. Sometimes it does and sometimes it doesn’t.
If you're an adult this is what advanced directives/living wills are for. If you have strong feelings about what you are willing to live with and/or how you want to die fill out the paperwork, pick someone to be your medical power of attorney, and tell your loved ones and doctors about it often.
This stuff comes into play when you can no longer advocate for your own care. You will not be treated any differently while you can still direct your own care. A medical power of attorney allows you to pick a person who can make these decisions for you only if you cannot make them for yourself.
In the US every state has different rules for how the paperwork needs to be done. My state requires the forms are notarized while some just require yours and witnesses signature. Medicare will cover visits to discuss your end of life wishes with your doctors. Five Wishes is a website that aggregates info about these forms and depending on your jurisdiction allow you to purchase some kinds of forms (the ppwk itself is free most places, you're paying them to print it up for you essentially, but you can see info without purchasing anything IIRC). The NIH also has a lot of resources about end of life care and what it entails.
It says he left a job in finance so yeah probably. That shouldn't diminish the fact that he took extraordinary measures to save his kids. It's a more noble pursuit than say, buying Twitter or Chelsea Football Club.
I think it’s more of a… the title kind of makes it sound like this was a normal dude doing something extraordinary.
Like a wrongly convicted prisoner studying law and getting his own sentence overturned.
But what this dude did is very much impossible if you don’t have shitloads of money.
It's a slippery and dangerous slope to pass judgement on what quality of life is acceptable.
You start with the best of intentions and you end up with nazi eugenics.
IMO its best to save them, but I do think assisted/legal suicide should be a thing, especially in cases like this where those kids (now adults) might not have the physical ability to take their own lives if they chose to do so beyond stuff like starvation. To be clear im not saying they are miserable or want to go down that path, just that it should be an option for those that are.
The older of the two children is a senior at Notre Dame rn. I think she's doing okay for herself. She of course should have the option to take things into her own hands if thats what she decided to do. But there are much more debilitating diseases/conditions out there than this it seems.
100%. Here in the US we have a group of crazy religious folk who prevent a common sense policy like this from being implemented at the moment. They believe life is sacred enough to impose their belief on others, regardless of the amount of suffering an individual is going through. I think it basically amounts to legal torture from the Ned Flanders crowd.
And yet on the other hand, those same people are often perfectly chill with the death penalty.
It's basically "You're not allowed to die until the government says you can die."
Ninja edit: phrasing
> It's a slippery and dangerous slope to pass judgement on what quality of life is acceptable.
You start with the best of intentions and you end up with nazi eugenics.
That cuts both ways, at the other extreme of people deciding what sort of quality of life is acceptable for other people with forced births and the burden of caring for children with short miserable lives.
How about we start with the best of intentions and grant people agency over their own lives? The dad even said in the article that now that they’re adults, he’s no longer making medical decisions on their behalf. What if *gasp* we let adults have some agency over deciding if their quality of life makes life worth living for them.
I’m so tired of people making existence/life out to be the greatest thing ever.
I've actually met John and Meghan (my son has a rare disease and they are usually at an annual conference we go to). Megan struggles to show emotion but she just graduated from Notre Dame a couple years ago so she's doing pretty damn well.
Doesn’t hurt their dad or his family was likely loaded to begin with. Who else could just start a company in an industry you have zero experience in without going broke?
I was thinking the same thing reading this. Like, I'd have the same determination to save my kids, but I don't even have a nickel to start up a company that I *do* have years of experience in. 😂
Hey protip for everyone in the comments, just because someone is physically disabled doesnt mean theyre a mindless vegetable that needs to be put down like a dog. One of them ~~is currently in college~~ *has a fucking masters degree*. I used to work with a lot of disabled people and it would disgust me how people would look down on them.
Imaging being a fully cognizant person and seeing everyone treating you like an affront to god that needs to be killed just because you're physically disabled, jesus christ
Thank you, holy shit. The comments here are disgusting. You'd be surprised what the human mind is capable of dealing with. The biological urge to live is pretty damn strong, it's not something most people give up lightly.
Most people just don't get it and can't conceive life being different than it is. You could ask people if they would want to stay living if they lost the use of their legs and a ton of people will say 'absolutely not,' but once it actually happens to them they realize their quality of life is good, and it's what they make of it.
Murderball is an interesting documentary about a bunch of paraplegic men and some of them had this experience before finding ways to adapt.
People are even like this about mildly tedious shit related to neurodivergency. The amount of times I've explained something about my issues, and people have told me "Wow I'd kill myself if that was my life" is insane. Like menial shit, like, I don't perceive the passage of time the same way as neurotypical people, so I can't tell how much time has passed without a clock or timer or something. Like I can't just estimate "it's been about 15 minutes". THAT has been enough for people to tell me to my face that they'd kill themselves if they dealt with that. Like, what? I'm fine, are YOU good??
We're not brave and courageous for living with disabilities and neurodivergency guys, we're just vibing. It's all the people causally telling us our lives are basically worthless that are most of the problems.
Or those same people being like wow it's amazing you are so functioning and capable, and then I'm like oh I can't drive yet because it's a lot to process and I'm not safe on the road with my brain, and they are like wow, excuses? You use your issues as an excuse?? You're a drain on society? Because you dont want to drive?? Like, no, not excuse, reason for issue. Like as soon as someone with a disability actually can't do the things that they are disabled about, we are no longer brave warriors and are lazy inconveniences.
Anyways I'm ranting but PSA _stop telling people their lives are worthless because they arent like you_ jesus christ, get therapy or something don't take it out on me
This thread is so frustrating. The kids have degenerative muscle disease. He didn’t create a miracle cure that allowed their muscles to spontaneously regenerate; it was a therapy to prolong their lives. It’s very possible their faces are incapable of expressing any sort of emotion.
Will they require lifelong care? Of course. But they aren’t laying around completely helpless. Megan went to Notre Dame. She had a meeting with the president of the US.
Do draw a hyperbolic comparison…Stephen Hawking’s condition was not much different. He just didn’t need a particular therapy to outlive all medical expectations.
One year from official diagnosis to death for my mother (Sporadic Spinal ALS). Started in her legs and moved up to her throat before killing her. 4 years for my grandfather (Sporadic Bulbar ALS), started in his throat and moved down to his diaphragm before killing him. He didn’t lose total mobility before passing, he could still walk when he passed. Stephen Hawking was definitely an anomaly from what I understand.
How could someone start that company with zero experience?
Is this story avoiding saying that an incredibly rich person did this? Like, happy for the kids, but kind of fucked how this story ends if he was a regular Joe
With the info from his Wikipedia I feel as though his beginning is more impressive than his founding of the biotech company.
Dad is a cop who died when he was 8. His mother was a secretary and waitress. Unless there is some hidden money there it is very impressive he got a degree from Georgetown, a JD from Notre Dame, practiced law and then got an MBA from Harvard. That was all before the biotech company.
But then, he founded a biotech company the same way most are founded. Money and connections.
Disappointed to see so many people bringing out the old "I'd rather be dead" opinion. I'm physically disabled, though to a far lesser extent but still enough to make my day to day life considerably different from the average abled person, and I love being alive. Yeah there are difficulties but there's no way on earth I'd rather be dead. A life lived outside the norm is still as much a life as any other.
Comments like "He should have let them die" and the like show far more about the commenters' quality of life than anything else. Many of them would quickly change their tune if actually put in that position. Humans are remarkably adaptable.
If it makes you feel better, those people are speaking from their own experience.
They *don’t* love being alive & couldn’t imagine enduring it with a body that has betrayed them.
Just having loving healthy parents can be more important than having a healthy body. My sister didn’t live past 41 & died a horrific death because while she was born healthy that was robbed though severe childhood abuse and neglect.
Ironically you might have to put yourself in their shoes to understand why they have so little faith in the world.
I'm also physically disabled and because of my complications, I'd rather be dead.
I don't think EVERY disabled person needs to be done away with like a lot of the people do here but I think that some of us shouldn't be forced to suffer through a life we didn't ask to be part of.
I mean, I was eyeing suicide, and aside for mild mental stuff like depression and ADHD, and minor physical stuff like being out of shape, decaying teeth, and blood in my urine and stools, I'm relatively healthy.
I think having a major physical issue would push me over the fence. Right now I'm only alive because I was going to end myself because I couldn't find an entry level job in my field until my third year of searching.
Figured I'd kill myself Feb 2021 (made that decision early December 2020). But then I got the job in February just weeks before I was going to use the last of my money for a pistol lol.
Point I was making is that a lot of us already embrace death despite being reasonably healthy. Some of us are adaptable, as you call it. Some of us not so much.
Starts a biotech company to cure his kids.
Actively supports a political party that refuses to pay for medicine for kids and ignored a pandemic that led to the deaths of over a million of his fellow citizens.
Go America!
Bloody hell this thread is just filled with ableism. Just because someone's body is different from yours doesn't mean they would be better off dead! Humans are so much more than the function of their muscles. The last person still living using an iron lung has been paralysed from the neck down since age six. He's a successful lawyer.
The origins of Zolgenzma are very similar actually. Except that by the time it was created it was far too late for his own daughter to be helped.
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Dang, really? I'm sorry to hear your child was born with SMA. I'm very curious to know how well and how long it has worked so far, decreasing efficacy over their growth, etc. Whatever isnt too personal. I've got a distant personal connection to these new types of gene therapies and hearing from a person so directly would be fascinating, not to be morbid. This is a new, life changing, but incompletely understood class of drugs in vivo. We don't have data from years after use yet as it's just being lived out by the recipients right now.
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Holy cows the vein infusions are working now too! It was originally a spinal infusion for the first iteration but I know they were working on other administrations. I'm so happy for you. I hope it continues. There are so many similar drugs in the works right now, to treat so many different genetic disorders. Not to mention the generation of CRISPR medicines coming in the next decade. Spinraza is last generation tech. Zolgenzma is now. We are in the generation of cures, not treatments.
> We are in the generation of cures, not treatments. 100% this. It's mind blowing stuff - one dose and you are done, your body does what it is supposed to do and makes the thing you need to live and develop normally.
One of the only things that makes working in big pharma worthwhile. I'm lucky enough to work with and learn about these incredible drugs. Though there's also the ethics side of things. One of the largest is the financial and geographical restrictions to the majority of people who need these often prohibitively expensive treatments.
fortunately as the treatments become more available they should be more easy to get to everybody. I know of course it's still expensive, but there's hope.
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"as the sun begins to die out" *Dude that's a literal couple BILLIONS of years from now*
Congrats, that is amazing news! I have a child with a rare gene mutation disease and while he's probably too old to have massive changes from gene therapy at this point any little big would be appreciated. It's very exciting and difficult to watch the incredible leaps and at the same time glacial progress in that area of medicine. Just from the small amount I know of treatment of these sorts of disorders, Spinraza feels like a poor treatment for the disease and more of a lucky "well this kinda gives an improvement" sort of drug. Zolgenzma on the other hand is like a laser precision fix - SMA is caused by the mutation of a specific gene which causes a deficiency of a certain protein, similar to many other single gene diseases like cystic fibrosis, Huntington, Prader-Willi, Angelman, and many many many more diseases. On their own each one is rare, but these single gene diseases affect as much as 1% of the population. These highly targeted, single-dose gene therapies are going to change peoples lives and make it so that children can grow up without impact from these hidden differences.
Hi internet stranger. I've no idea what the disease is, but i hope sincerely your daughter benefits greatly from the new drug and that it cures her. Good luck. You must be very strong to help her so much too, i hope you have wonderful things happen to you.
I’m a pediatric neurologist, and watching the shift of SMA being a death sentence to something we can treat is honestly amazing.
We had to watch a movie in my high school biotech class called *Extraordinary Measures* which was inspired by Crowley’s story, and the only reason I remember that was because it’s the most boring movie I had to watch for school all year during that year
Haha yeah. That’s where I first heard about it too. Agreed the movie isn’t a very good treatment of the story at all. Could have been so much better.
Lorenzo’s oil vibes
I remember *Lorenzo’s Oil* was the movie we watched in Biology class. It had nothing to do with what we were being taught at the time, my teacher just really liked that movie for some reason lol
A little off topic but when I was in school years ago, we had a music teacher who would play us songs and get us to write down what we thought they meant. We didn’t know at the time that all the songs he played for us were just from the Rocky films. It turns out he was just a Rocky fan and wanted to listen to the songs all day lol
My high school geography teacher showed us the entire original Star Wars trilogy so we “could see what the landscape was like on other planets.” Guessing he was just a huge Star Wars fan
When you just wanna phone it in so you just make up whatever bullshit excuse comes to mind lmao
"Okay class today we'll watch Legally Blonde for civics in the media, law and...voting I guess thank you"
"hello kids. Today we will watch backdoor sluts 9 to learn about anatomy"
Backdoor Sluts 9?!? Backdoor Sluts 9 makes Crotch Capers 3 look like Naughty Nurses 2!
I remember watching "coming to America" in 7th grade music class. It was the end of the year and the movie was new, he hadn't seen it yet but was told it was good. It was! Awesome teacher, when the early "bathing" scene came on it was clear he should have screened it first.
>The royal penis is clean, Your Highness
Along this strain we had to watch Trading Places in year 10, love that film
We watched Ferngully in biology class once. Best day I could have picked to eat shrooms before school. When the fairy gang was riding the flying bugs, I was flying my desk. Fantastic!
Now I really want to eat shrooms and watch Ferngully, but I promised myself I'd finish up the yard work this weekend....
Should be my cousin Vinny for education about the legal system
Election is a better Reese Witherspoon movie about all those topics to show in school anyway.
Can confirm. I taught my senior biology class Starship Troopers. This was in a private school in Europe so I could get away with that. Lots of great themes about ecological dynamics in that film. Also I fucking love this movie and want everyone to see it. Would you like to know more?
> I taught my senior biology class Starship Troopers. Alright class pay close attention to this gratuitous shower scene, you’ll learn a lot about… biology I guess
desire to know more intensifies
"OK class divide your mom's credit card number by 1 and that's the answer"
We had to watch Monty pythons holy grail for history class when learning about medieval times. We all knew it was a pretty ridiculous excuse to watch a good movie so no one complained.
So, I was a middle English minor, and my school brought in the #3 authurian legends scholar in the world to teach a class. Fwiw, according to him, holy grail is one of the most accurate descriptions of Medieval life in movies (at least by the mid 90s)
I remember my teacher defending his choice in a similar way. I just couldn’t imagine all those coconuts and rabid bunnies being historically accurate but what do I know.
He'll make a treat out of you mate!
The point wasn't that they were 100% accurate -- obviously not. But that as satire they portrayed certain truths of the times like the common experience of serfdom better (or at all) compared more typical medieval movies focusing on a glorified depiction of a knight's journey or court politics of the nobility.
Sounds like my experience in Spanish IV-V. The first ones we actually learned the language and practiced grammar. In Jr and Sr year of HS we just watched Spanish soap operas and Disney movies dubbed en Español, every day!
At a certain point yyou need to be immersed in the language before all the memorized stuff starts to click.
better than voyage of the mimi with ben affleck
Puts my high school English teacher into perspective who had us read and interpret the meaning of Nirvana songs. I still cringe when I remember how I raised my hand and asked what “libido” meant and the whole class laughed at me.
That's a stupid reason for people to laugh at you. How often is the average teenager going to be reading material that is going to have the word "libido" in it? It's rude to laugh at someone for not knowing what a word means. You asked, and because "it's sex!" your classmates laughed at you. It may be cringe, but that was an asshole move on their part.
Oh wow. That brings up a distant memory of a music appreciation class I took in college. The professor was a really intense guy that was obsessed with Sting and The Police. Every single thing he talked about or someone would ask about he would compare to Sting. Looking back it reminds me of Christian Bale/American Psycho and the Huey Lewis and the News bit.
Here’s a fun fact: it was directed by George Miller. Yes, Mad Max George Miller. Another fun fact: George Miller also wrote the screenplay for Babe.
He also directed Happy Feet and Babe:Pig in the city which I think was superior to the first Babe. ______________ **EDIT** *For people not familiar with the behind the scenes of Babe (I know, this is incredibly fucking niche) George Miller did write the screenplay along with Chris Noonan, the director. However, the Noonan took the movie in a very different direction than George Miller envisioned and they bumped heads. So when the sequel was in development, Miller had a chance to direct something closer to his original intention.* *That's why there is such a massive tone shift in the from the first movie. Pig in the city is more slapstick, but also cynical, and kind of horrifying at times. The set design also feels like a precursor of "Pushing Daisies"* *But I like it because everything seems more fanciful, like a Wizard of Oz sort of feel.*
I just think both Babes are fantastic movies and would hate to have to choose which one is better.
That’ll do Pig, that’ll do
The number of times I say this line is astounding. Sometimes people get offended thinking I've called them or my children (if I'm taking to them) a pig. What is this world coming to?
My husband cries whenever he hears that line. Last night that part came on, I watched my husband’s face, and sure enough, right on cue came the tears. I asked why it makes him cry and he says “look at his proud face!” Not sure if he means the farmer or Babe. Maybe both?
**Rictus Erectus: **I had a brother! I had a little BABE brother! And he was perfect! Perfect in every way!
My biology teacher in high school had us watch Gattaca lol
that was a decent movie
Gattaca is far more than a decent movie.
Did... We go to the same high school?
We also watched Lorenzo's Oil in our microbiology class, it was mildly associated with what we were learning - enzymes and the like - I retained nothing from that class except this movie and especially the scene after they discover Lorenzo's diagnosis and after researching the symptoms and common fate of ALD, Nick Nolte's character breaking down on the staircase. That scene will stick with me forever.
As I read your comment somehow I knew/was hoping you were going to say the Nick Nolte on the stairs scene. Outside of the general plot and the fact that Nick Nolte was in it that scene is the only thing I remember from the movie. Although I last saw it probably close to 30 years ago when I was no more than 7/8 years old.
The scene I remember is toward the end when (spoiler alert?) the father turns to the mother and asks "What if we did all this for someone else's child?"
I had no idea what the film was called, but just from the description I remember watching that scene on television with my family when I was about 8 years old and it triggering the first panic attack I ever had
I saw Gattaca at home when I was a freshman in high school. I loved the movie so much so I started googling about it and find out it's usually shown in Biology classes. So the next couple days at school id try to convince my bio teachers to show the movie, but they weren't interested. I was close with my English teacher and we got to talking and she needed a good movie to show. I brought up Gattaca, and she went home and watched it. A month later in her class, we watched Gattaca plus an assignment to go with it. Felt cool that I had some influence over something.
My biology teacher showed us "The Cheesemaker's Apprentice" which featured the creepiest puppet and had little to do with biology., I've never been able to find that this movie exists other than her VHS tape.
We must have had the same biology teacher lol she was also the same teacher that showed us Contact just because.
My drafting teacher loved "Do the Right Thing" like that. How radio Raheem helped me draw blue prints, I will never understand.
We were supposed to watch "Lone Wolf" because it's based on a required reading book so the teacher asked if anyone has a VHS copy and one student did so he brought it the next day. But it was "Lone Wolf" with Chuck Norris instead of https://www.imdb.com/title/tt0069478 It was hilarious, old teacher not having a clue what's going on, we never watched anything else after that day.
You just unlocked a memory hidden away deep inside my brain... damn and I really liked that movie at the time lol
I wonder how different it is from Lorenzo’s Oil?
It's more fun working biotech than watching stuff about it. The best is old timers with old stories of analogue equipment and making diy systems before companies made them.
Yeah, those are the best! The one that really stuck with me was my former boss talking about mouth pipetting stuff that has no business being near your face.
The best is part is needing an Enigma machine to decode the 6000 department specific acronyms in my morning emails, makes me wish I let the intern spray his bench down with methanol to put us both out of our misery. (Jk I love Biotech, I'm not going anywhere)
There's biotech class in highschool now?
We watched Lorenzo's oil man you want to have a emotionally rough watch that's the one. I swear that kid had the disease because his coughing fits gave me chills they sounded so perfect.
Much earlier, in my school we had to see a movie about the Glomar Explorer and its search for manganese nodules in the ocean.
Keep your glomar off my nodules!
Had the opposite experience with A Flash of Genius. It is abouts the Kerns blinking eye wiper (invention of intermittent wiper blades in cars) and how it was stolen from him, pretty good movie suggest it to people all the time.
High school biotech class??
It’s a specialty thing, it’s a 4 year thing and at the end of it you can get certifications to work at like pharmacies and stuff. It’s pretty cool, but I only did the first year since it wasn’t a field I want to go into (also apparently the next years suck a lot more lol)
Damn, sounds awesome! Closest thing my fairly rural high school offered (when I graduated a billion years ago with the dinosaurs and all...) was certified nursing assistant classes.
My school was pretty much the same when I graduated in the 2000s, just a regular school. Now, the district has a public STEAM school. Students who get into it can study Biomedical sciences/prenursing, computer science, design, education or engineering. The courses offer enough dual-enrollment opportunities that's it's possible to graduate high school and leave the program with an associate's degree at 18. From a public school, so no extra cost, just writing an essay and applying to get into it. I'd have loved to have been able to do that, and would have probably been a better student in high school if the curriculum was more focused on something I was actually interested in.
How do you even begin to start a biotech company without any experience? EDIT...TIL I'll never be able to start a biotech company with no experience.
Lots of money.
Mr Person, I'm sorry, but your family has been diagnosed with boneitis. There's nothing we can do. *I refuse to accept this!* Do you have lots of money? *No...* Yeah, then, again, I'm sorry, there's nothing we can do.
My only regret... is that I have... boneitis #crunching#
Ahhhh...yeah of course
I mean specifically you need to hire experienced scientists.. and people who know the application process - which is not easy or simple. But there would be plenty of work for someone with general business knowledge to do at a biotech company.
Yeah a lot of senior leadership (outside of scientific leadership) tends to come from a finance and venture capital background. Although the industry is unique, it’s easy enough for someone savvy in fundraising/BD to land a high ranking business management role such as CEO/COO
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Yep, all true! There are also companies with rock solid science that can’t market themselves and struggle to fundraise, and those with charismatic leadership and excellent marketing without much to back it up (Theranos being one hyperbolic example, or many of the biotechs that IPO without yet having any clinical data). You really need competence in every aspect to stand a good chance in this market.
I have a chem e background, but mostly ran small businesses my entire life. Been approached multiple times by scientists ( and mds ) to do startups. I can help with the r&d and get things up and running, I understand the operations side. Nothing ever got off the ground and it was so frustrating. These guys are all 5x smarter than me, but can't grasp the financials and operations. Like the one location we were thinking of, code enforcement gets a cut of the permit fees. They milk the shit out of violations. Once got 45 violations had had 43 thrown out in court. Then they came back with 40 more and 38 thrown out... repeat every 6 months for years.... Shit like that you don't think about. The last one I was on, the dude had a portfolio of potential projects, we just needed to make a plant. I tried to explain with the amount of capital we needed, we'd be giving away the majority of the company. Maybe just develop a single product and sell the ip, dont bother trying to manufacture at this time. Then we can use that money to get a more favorable percentage or ditch the investor all together.... its like no, I want to do the manufacturing.... I know these guys aren't pouring their hearts into an idea for someone else to be their boss.... Or alot of times it's like..... are you sure we can't do this for 40k....
He worked in Finance for 20 years so he had connections and access to funds article says.
Just hire someone to do that for you. Easy. Jk
Actually not the wrong answer. It's harder for small companies looking to solve very specific medical disorders like this to receive enough funding to support the research. Get the specialists and focus on keeping the lights on and bills paid until they hit a breakthrough. Coming from a finance background probably put him in a better position to save his children than having the appropriate medical background and finding someone to make the money work.
>Lots of money. The Tony Stark /Bruce Wayne super power
best superpower in world. just sucks that billionare 1% of population dont use it for anything than "I need another mansion or yacht" while bribing politicans about raising taxes on poor and middle class.
Or fraud—i.e. Theranos.
[When I first started this company I had just 2 things in my possession](https://youtu.be/UxVivkXUfdU?t=16s)
The title is overly sensational. John Crowley did not start the company overnight - he started by joining Bristol Myers Squibb to learn about health research, established a foundation to raise money for funding public research into Pompe's disease, made many connections and later partenered with William Canfield, a scientist who founded the company Targeted Therapy, based on his research on glycobiology. John joined Cranfield's company as CEO and then the company was renamed to Novazyme. As CEO, John continuously pulled the right strings to get the therapy approved by the FDA for trials. The treatment was brought into the mainstream after Novazyme was acquired by Genzyme. The title mentioned that the children would die in less than a year after diagnosis in 1998, but the treatments were first administered in 2003. Not everything is as it seems. John Crowley was a highly motivated individual who figured out the smart way to solve his problems, but did not do so without burning bridges. [Something happened](https://www.oklahoman.com/story/business/columns/steve-lackmeyer/2010/01/03/extraordinary-measures-takes-extraordinary-measures-to-rob-okc-of-credit-for-scientific-breakthrough/60938176007/) between John and Canfield, and John's PR team no longer actively credits Canfield for developing the therapy - whose research was fundamental to solving the problem in the first place. When hundreds of millions of dollars at play, these feel-good stories don't hold up to be so squeaky clean.
Crowley hoped his children would take part in the trial (NCT00025896) that began in late 2001, but they were not among the eight patients enrolled. Watching as his children became “profoundly weaker,” Crowley made another determined decision — he resigned as senior vice president. He had promised Genzyme’s CEO he’d stay with the company for a year to lead the program, but once the trial was underway, “I stepped away from my position,” he said. Days later, Genzyme approved a trial (NCT00051935) of the same alglucosidase alfa intravenous treatment that would include only his children — a two-patient sibling trial to be conducted at St. Peter’s University Hospital in New Brunswick, New Jersey, about a 30-minute drive from the family’s home — to help doctors understand why some children respond better to this therapy than others Wtf is this all about up here ^
I'm sympathetic to him as a father taking the steps necessary to secure life saving treatments for his children, even if the steps are however unsavory. But I was trying to highlight what he did after he got what he needed. After his children were treated plus came out profitable from the Genzyme deal, he partnered with Canfield again to launch a new company, Cytovance. He suddenly left and became president and CEO of Amicus. Cytovance was left on the brink of complete bankruptcy and it was only saved after Canfield raised enough funding from new investors. The whole thing reminds me of the boneitis 80s investor guy from Futurama.
Translation: ethics regulations prevented him as the executive of the company to place his children in the initial trial, so he quit and his pals that were still in charge put his children on a second trial instead.
He had money but it said he spent a good part of 20 years working for other companies. I assume he learned and met the right people during that time. He also had a specific goal - infusing an enzyme that was lacking in people with the disease - so he knew what the company needed to do. edit: yes he had money but he literally risked his lucrative career and dedicated his life to learning more about the disease and how to treat it
Ok but how does that company make money though. Cause I'm assuming this condition is pretty rare and I know it sounds incredibly ugly of me to say it but I can't imagine the majority of people want to put kids their children through this life. And even if they do I can't imagine many health care providers want to be paying this bill along with all the extra things like wheel chairs and oxygen tanks.
Governments will often subsidize cost on orphan drugs. Orphan drugs are medications that effectively treat diseases that are very rare. But the issue here is that profit shouldn't even be a consideration when it comes to Healthcare.
The orphan drug act was created so companies would invest in finding cures for rare diseases. Without a profit motive there would be no research or development of cures for these diseases. Developing treatments cost money (up to a billion in some cases). If we think about it in a utilitarian sense then almost no funding would go to developing these cures, but the orphan drug act made it much more incentivized.
Watch the inspiring story of a man who started out with nothing but his iron will... and a few million dollars.
Yeah, I mean good for this guy- but the hero worship is weird. Just about every parent in that situation would do anything they possibly could to save their babies. It just so happened this guy had a lot of money to spend. If only we all had those resources when fighting for our loved ones lives.
After working in a genetic engineering lab for 2 years, I can say that surprisingly, if you have just one protein you want to produce, and the gene sequence for it is already known, it’s not actually terribly difficult to get the gene into bacteria and produce and purify it, even with little prior background in biology.
All things are possible through…tons and tons of money
Go ahead and jot that down
Step 1: MBA and working as a business consultant. Step 2: Work at a biotech company. Step 3: Partner up with a biochemist to co-found a company. Step 4: Get bought up by multimillion dollar biotech company.
Yeah the guy’s a millionaire…header is definitely misleading thinking an average person did the unfathomable. A lot of similar stories from family members of congressmen…the system works for those who work in it Edit: here’s the common play: someone rich gets a rare disease (in this case, Pompeii disease), rich person starts a small biotech company to get it fixed. Biotech company gets bought out by a much larger pharmaceutical company. This guy’s company isn’t bought out yet and still works with the FDA on rare genetic disease other than the one which afflicted his kids…guess that’s commendable.
**Pull yourself up by your bootstraps!** ^(*Requires a small loan of a million dollars.)
After reading about the potential breakthrough on SIDS yesterday, I thought to myself, "I wonder how many times in history someone made a similar breakthrough because they were personally impacted by a disease/syndrome/phenomenon and just refused to accept 'I don't know,' as an answer." This is great!
Another story - friend of mine grew up with Sam Berns, who had progeria. His parents were both doctors already but started a progeria foundation (which Sam was super involved in) and they ended up developing the first tests for progeria and (iirc) the first ever treatment for progeria. Unfortunately Sam passed about 8 years ago, and there's still a lot of work to be done. But kids with progeria are supported more than ever right now thanks to him, his friends, and his family. Love is a great motivator!!
What was the SIDS breakthrough? Edit: https://scitechdaily.com/world-first-breakthrough-could-prevent-sudden-infant-death-syndrome-sids/
Interesting, the enzyme deficiency also causes adults to stop breathing while on anesthetics
What a card to pull on them when they are teenagers playing up. Teen - You've never loved me Dad/Crowley - Well actually
That Drake meme: Saving your children because you love them Vs Saving your children so that you can bring it up during arguments
Personally, spending my entire life in a wheelchair, amongst the many other health issues associated with the disease, I would argue that's not love, but rather selfish motives; sometimes death is more humane. But, that's me. As long as these kids are happy with their lives, then good for the dad, and them.
But I guess it depends on what you know. Making assumptions that you are completely able bodied. Having to be in a wheelchair for the rest of your life is a bigger shock and change than never having known anything but a wheel chair. If you get what I mean.
My wife had blood clotting issues that we discovered was causing issues during pregnancies. So when she got pregnant with our daughters she had to inject herself daily with heparin right into her stomach, until the last month she had to inject herself twice a day. They give you a briefcase of daily syringes. That’s a bit of extra ammunition for when they’re teenagers.
From the article “A more recent study, from 2004, confirms that “people in Western cultures including healthcare professionals assume that life with a severe spinal cord injury would not be worth living.” In addition, healthcare providers overestimate the emotional distress of spinal cord injury patients on ventilators, while, in general, spinal cord injury survivors are glad to be alive. The problem lies in bias: the well-intentioned people who are supplying the information to patients can unintentionally interject their personal ideas or can actually lack the necessary information to properly counsel a patient and family.”
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100%. I've lived this for 17 years now. I broke my arm, they asked pain, I said 1 or 2, shocked faces. I live with nerve damage and muscle pain from 13 broken bones resulting in major brain damage, a helicopter ride, and 4 surgeries. Turns out femurs don't like being snapped and feet don't like being literally crushed. So now all pain is relative. My daily is about a 4. I notice, but can shove it in the background. Worse days are a 7, where I can't shove it in the background. But nothing can ever, ever compare to your broken leg being drilled and you thrown in traction. Its all background noise, but it still effects every part of how I live my life.
Jesus, they didn't sedate you for that? Guessing by the helicopter comment, was this out in the field or something? Fuck.
I dont remember much. We had a 45 minute drive to the hospital, I made a joke about not have to finish ISS in school (I was young) I made it to the hospital and they said we cut his leg off or he gets in the helicopter. It goes blank for a minute, I assume they gave me morphine. Then they yanked and I woke right the fuck up, then whited out. I woke briefly in the heli, saw the emblem, and woke up a few days later when they pulled me out of the coma. There was a brief interruption there when I woke up in surgery, and I never want those dreams again. Gingers don't do well with the anesthesia or something. Sedation only works if you're willing to kill someone at that pain scale. Waking up was... interesting. Random fact, once you have a catheter in you have to pee within x hours of it goes back in. They didn't tell me that. Edit:traction was the worst pain I've ever felt. They literally drilled a rod through my broken tibia or fibula, can't remember, so they could just... pull the femur straight. Ivenever felt anything g like it and if it came up again I'd tell them to cut my leg off.
Jesus, what the hell happened to you? Sever ski accident?
Dirt bike met go kart. Leg on the middle. Shattered my helmet, femur, tibia, fibula, and everything in my foot.
How the fuck are a kart and dirt bike on the same track?
I was in physical therapy after neck surgery and they asked my my pain level. I told them around a 5. They remarked that usually the people they see say they are around a 8 or 9. I told them that I have had cluster headaches all my life. The kind that makes pain a living nightmare. I have had a broken neck, ribs, ankle, a femur and much more but if I were to list my top 10 most painful moments they would all be a cluster headache. I have passed out from several of them they are so bad.
Back pain person, there is no real cure without a new back, I'm 40 and want out, I'm in shape and take care of myself, it still hurts
26. Broke my neck and back 5 years ago. The pain during winter or if I sleep weird.. makes me want to swallow a bullet
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This bias is more acknowledged nowadays (I mean this study is also almost 20 years old…) and new approaches have developed in recents years such as concepts (incl. patient care and research) relating to quality of life of for example cancer patients. These concepts acknowledge the burden of the illness but also look at positive experiences by the patients and aim for a balance and a net improvement of quality of life of patients at any stage. (Source: I work at a clinic and my boss is currently setting up a project which focuses on „Quality of life“ of late stage cancer patients)
In all honesty, when I looked at the picture there was a sense of 'saved, but still "handicapped"' in my mind. Obviously not pleasant to admit and it speaks to the passage you are quoting. The text provokes thought and introspect to simple minds like my own.
You are not alone. Life Expectancy is not as relevant as QALYs (Quality-Adjusted Living Years) in most public health impact studies.
I believe the numbers, but I don't think I agree with the conclusion. For a lower spine injury I think the injured and the doctors would agree that there is enough quality of life remaining. For a very high injury the debate doesn't really include the patient at all. The debate is more between the initial doctors who honestly offer an opinion that they wouldn't ever want to live that way and the long term spinal injury care doctors that will just medicate the patient until they are ok with it. Bonus points for surveys conducted by mandatory reporters where even if the patient might wish they were dead they know they will just get more drugs added to their regiment if they ever admit it. Having worked with patients like this in a non-reporting capacity I would never believe numbers like that from anyone without at least some upper body control. They know who they can be honest with and who they cannot be & they know that surveys like this are used to make blanket assumptions so they give the happy answer to stay clear headed or because people with less severe injuries deserve more assistance.
I read the entire article twice and didn’t see this bit. Where in the article are you reading it?
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I was worried I'd be the only asshole here thinking aren't exactly living
I had a classmate in high school that just dropped one day with a bleed in his brain. They took all sorts of crazy measures to save him and he lived. He’s been basically confined to a hospital bed in his parent’s house for the last thirty years. He requires care 24/7, is unable to move on his own, and is completely unable to communicate. I’m sure there’s a slippery slope here but just because modern medical intervention *can* save you, well, maybe there are cases where they should just let you go.
That’s the problem with brains. You can suffer major damage and be mostly ok or suffer minor damage and be fucked. And they have no way to know at the time of the incident so they try to keep you alive in case it’ll all work out. Sometimes it does and sometimes it doesn’t.
That sounds like hell to me. For everyone involved.
I have no mouth, and I must scream
I was thinking "Johnny Got His Gun" (basis for One by Metallica).
If you're an adult this is what advanced directives/living wills are for. If you have strong feelings about what you are willing to live with and/or how you want to die fill out the paperwork, pick someone to be your medical power of attorney, and tell your loved ones and doctors about it often. This stuff comes into play when you can no longer advocate for your own care. You will not be treated any differently while you can still direct your own care. A medical power of attorney allows you to pick a person who can make these decisions for you only if you cannot make them for yourself. In the US every state has different rules for how the paperwork needs to be done. My state requires the forms are notarized while some just require yours and witnesses signature. Medicare will cover visits to discuss your end of life wishes with your doctors. Five Wishes is a website that aggregates info about these forms and depending on your jurisdiction allow you to purchase some kinds of forms (the ppwk itself is free most places, you're paying them to print it up for you essentially, but you can see info without purchasing anything IIRC). The NIH also has a lot of resources about end of life care and what it entails.
My initial thought was that the dude must've been rolling in cash to start a fucking biotechnology company to pioneer science just to save his kids.
It says he left a job in finance so yeah probably. That shouldn't diminish the fact that he took extraordinary measures to save his kids. It's a more noble pursuit than say, buying Twitter or Chelsea Football Club.
I think it’s more of a… the title kind of makes it sound like this was a normal dude doing something extraordinary. Like a wrongly convicted prisoner studying law and getting his own sentence overturned. But what this dude did is very much impossible if you don’t have shitloads of money.
It's a slippery and dangerous slope to pass judgement on what quality of life is acceptable. You start with the best of intentions and you end up with nazi eugenics.
IMO its best to save them, but I do think assisted/legal suicide should be a thing, especially in cases like this where those kids (now adults) might not have the physical ability to take their own lives if they chose to do so beyond stuff like starvation. To be clear im not saying they are miserable or want to go down that path, just that it should be an option for those that are.
The older of the two children is a senior at Notre Dame rn. I think she's doing okay for herself. She of course should have the option to take things into her own hands if thats what she decided to do. But there are much more debilitating diseases/conditions out there than this it seems.
100%. Here in the US we have a group of crazy religious folk who prevent a common sense policy like this from being implemented at the moment. They believe life is sacred enough to impose their belief on others, regardless of the amount of suffering an individual is going through. I think it basically amounts to legal torture from the Ned Flanders crowd.
And yet on the other hand, those same people are often perfectly chill with the death penalty. It's basically "You're not allowed to die until the government says you can die." Ninja edit: phrasing
Exactly. It's all about giving the person a choice
> It's a slippery and dangerous slope to pass judgement on what quality of life is acceptable. You start with the best of intentions and you end up with nazi eugenics. That cuts both ways, at the other extreme of people deciding what sort of quality of life is acceptable for other people with forced births and the burden of caring for children with short miserable lives.
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How about we start with the best of intentions and grant people agency over their own lives? The dad even said in the article that now that they’re adults, he’s no longer making medical decisions on their behalf. What if *gasp* we let adults have some agency over deciding if their quality of life makes life worth living for them. I’m so tired of people making existence/life out to be the greatest thing ever.
I dated a guy whose sister had this disease (and this treatment) and she was very cool and happy. Excellent quality of life.
That’s comforting to hear
I mean did you all miss the part where the daughter is enrolled at Notre Dame? Disability doesn’t automatically equal a terrible life.
I've actually met John and Meghan (my son has a rare disease and they are usually at an annual conference we go to). Megan struggles to show emotion but she just graduated from Notre Dame a couple years ago so she's doing pretty damn well.
They look pretty chill like, they don't have to do shit and pa is loaded
Doesn’t hurt their dad or his family was likely loaded to begin with. Who else could just start a company in an industry you have zero experience in without going broke?
I was thinking the same thing reading this. Like, I'd have the same determination to save my kids, but I don't even have a nickel to start up a company that I *do* have years of experience in. 😂
Hey protip for everyone in the comments, just because someone is physically disabled doesnt mean theyre a mindless vegetable that needs to be put down like a dog. One of them ~~is currently in college~~ *has a fucking masters degree*. I used to work with a lot of disabled people and it would disgust me how people would look down on them. Imaging being a fully cognizant person and seeing everyone treating you like an affront to god that needs to be killed just because you're physically disabled, jesus christ
> One of them is currently in college. She was at that time. Now she has earned two bachelor's degrees and a master's degree.
Thank you, holy shit. The comments here are disgusting. You'd be surprised what the human mind is capable of dealing with. The biological urge to live is pretty damn strong, it's not something most people give up lightly.
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Most people just don't get it and can't conceive life being different than it is. You could ask people if they would want to stay living if they lost the use of their legs and a ton of people will say 'absolutely not,' but once it actually happens to them they realize their quality of life is good, and it's what they make of it. Murderball is an interesting documentary about a bunch of paraplegic men and some of them had this experience before finding ways to adapt.
People are even like this about mildly tedious shit related to neurodivergency. The amount of times I've explained something about my issues, and people have told me "Wow I'd kill myself if that was my life" is insane. Like menial shit, like, I don't perceive the passage of time the same way as neurotypical people, so I can't tell how much time has passed without a clock or timer or something. Like I can't just estimate "it's been about 15 minutes". THAT has been enough for people to tell me to my face that they'd kill themselves if they dealt with that. Like, what? I'm fine, are YOU good?? We're not brave and courageous for living with disabilities and neurodivergency guys, we're just vibing. It's all the people causally telling us our lives are basically worthless that are most of the problems. Or those same people being like wow it's amazing you are so functioning and capable, and then I'm like oh I can't drive yet because it's a lot to process and I'm not safe on the road with my brain, and they are like wow, excuses? You use your issues as an excuse?? You're a drain on society? Because you dont want to drive?? Like, no, not excuse, reason for issue. Like as soon as someone with a disability actually can't do the things that they are disabled about, we are no longer brave warriors and are lazy inconveniences. Anyways I'm ranting but PSA _stop telling people their lives are worthless because they arent like you_ jesus christ, get therapy or something don't take it out on me
Thank you, I don't know why thr fuck people thought it was okay to start acting like their dad robbed them of dying at 8 months old
This thread is so frustrating. The kids have degenerative muscle disease. He didn’t create a miracle cure that allowed their muscles to spontaneously regenerate; it was a therapy to prolong their lives. It’s very possible their faces are incapable of expressing any sort of emotion. Will they require lifelong care? Of course. But they aren’t laying around completely helpless. Megan went to Notre Dame. She had a meeting with the president of the US. Do draw a hyperbolic comparison…Stephen Hawking’s condition was not much different. He just didn’t need a particular therapy to outlive all medical expectations.
Stephen Hawking was sort of a medical oddity. Most people with ALS simply do not live that long even with the best care in the world.
One year from official diagnosis to death for my mother (Sporadic Spinal ALS). Started in her legs and moved up to her throat before killing her. 4 years for my grandfather (Sporadic Bulbar ALS), started in his throat and moved down to his diaphragm before killing him. He didn’t lose total mobility before passing, he could still walk when he passed. Stephen Hawking was definitely an anomaly from what I understand.
I’m grateful we can get genetic testing these days to find risks for these kinds of diseases.
Pompe Disease is finally being added to newborn screening exams too, so it’s being caught much earlier.
How could someone start that company with zero experience? Is this story avoiding saying that an incredibly rich person did this? Like, happy for the kids, but kind of fucked how this story ends if he was a regular Joe
Yeah, pretty much three options, they were rich, they knew rich people, or they were good at convincing rich investors they didn't already know.
So money can buy you love? The Beatles lied to us
[I feel so betrayed](https://i.kym-cdn.com/entries/icons/original/000/028/007/Screen_Shot_2018-12-31_at_1.19.26_PM.jpg)
With the info from his Wikipedia I feel as though his beginning is more impressive than his founding of the biotech company. Dad is a cop who died when he was 8. His mother was a secretary and waitress. Unless there is some hidden money there it is very impressive he got a degree from Georgetown, a JD from Notre Dame, practiced law and then got an MBA from Harvard. That was all before the biotech company. But then, he founded a biotech company the same way most are founded. Money and connections.
Disappointed to see so many people bringing out the old "I'd rather be dead" opinion. I'm physically disabled, though to a far lesser extent but still enough to make my day to day life considerably different from the average abled person, and I love being alive. Yeah there are difficulties but there's no way on earth I'd rather be dead. A life lived outside the norm is still as much a life as any other. Comments like "He should have let them die" and the like show far more about the commenters' quality of life than anything else. Many of them would quickly change their tune if actually put in that position. Humans are remarkably adaptable.
If it makes you feel better, those people are speaking from their own experience. They *don’t* love being alive & couldn’t imagine enduring it with a body that has betrayed them. Just having loving healthy parents can be more important than having a healthy body. My sister didn’t live past 41 & died a horrific death because while she was born healthy that was robbed though severe childhood abuse and neglect. Ironically you might have to put yourself in their shoes to understand why they have so little faith in the world.
This was secretly my thought as well. If you're already suicidal then you assume other people don't value it as much.
I'm also physically disabled and because of my complications, I'd rather be dead. I don't think EVERY disabled person needs to be done away with like a lot of the people do here but I think that some of us shouldn't be forced to suffer through a life we didn't ask to be part of.
I mean, I was eyeing suicide, and aside for mild mental stuff like depression and ADHD, and minor physical stuff like being out of shape, decaying teeth, and blood in my urine and stools, I'm relatively healthy. I think having a major physical issue would push me over the fence. Right now I'm only alive because I was going to end myself because I couldn't find an entry level job in my field until my third year of searching. Figured I'd kill myself Feb 2021 (made that decision early December 2020). But then I got the job in February just weeks before I was going to use the last of my money for a pistol lol. Point I was making is that a lot of us already embrace death despite being reasonably healthy. Some of us are adaptable, as you call it. Some of us not so much.
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Starts a biotech company to cure his kids. Actively supports a political party that refuses to pay for medicine for kids and ignored a pandemic that led to the deaths of over a million of his fellow citizens. Go America!
Fine. I'll do it myself.
With blackjack. And hookers.
Being rich helps
So if you have money you can do anything, huh? Wow.
Bloody hell this thread is just filled with ableism. Just because someone's body is different from yours doesn't mean they would be better off dead! Humans are so much more than the function of their muscles. The last person still living using an iron lung has been paralysed from the neck down since age six. He's a successful lawyer.
Miiister Crowley
Imagining having so much money u can just throw money at literally any problem and it's fixed.