Hunting Down My Son's Killer
matt.might.net
matt.might.net
I have a slightly rare genetic condition, and I've only met 2 doctors who know more than I do, and that's because they do active research on the exact condition and have authored or co-authored multiple research articles on it.
Most doctors quickly realize that they're outgunned when my wife and I start talking about our son.
We have a lot more luck with PhDs than MDs.
EDIT: Here's the article I was referencing: http://www.newyorker.com/online/blogs/newsdesk/2010/06/gawan... :
Half a century ago, medicine was neither costly nor effective. Since then, however, science has combatted our ignorance. It has enumerated and identified, according to the international disease-classification system, more than 13,600 diagnoses—13,600 different ways our bodies can fail. And for each one we’ve discovered beneficial remedies—remedies that can reduce suffering, extend lives, and sometimes stop a disease altogether. But those remedies now include more than six thousand drugs and four thousand medical and surgical procedures. Our job in medicine is to make sure that all of this capability is deployed, town by town, in the right way at the right time, without harm or waste of resources, for every person alive. And we’re struggling. There is no industry in the world with 13,600 different service lines to deliver.
Note that this was published in 2010. By now those numbers have probably grown.
I've also had personal experience with the doctor-doesn't-know problem: I had an unusual disease seven years ago, and the first specialist I saw said that she Googled it a few hours prior. Her partner gave me completely wrong information; he didn't even know how to treat what I had. Fortunately my family found a research center where some of the major researchers in the field worked, and the treatment I ultimately got had been published a few months before I started (it had become standard two or so years prior). If you're curious about specifics, send me an e-mail—it's in my profile.
It was one of the reason so many AIDS patient groups formed (I sat on the board of PWAC and was a member of ACTUP). Because at that time, either doctors did not or could not educate themselves on the subject.
Now, of course, it's a different matter. With HIV being a "manageable" condition (in the West anyway)every ID doctor worth his weight can talk on the subject.
From experience I can tell you, you have to manage your care. You can not expect (nor should you either) a doctor to do it for you.
My brother nearly came to blows with an emergency room doctor who didn't know the difference between a cancer grade [1] and a cancer stage [2]. Confusing the two, he started to give us the "time to let go" speech, when the appropriate medical action was immediate treatment to suppress brain swelling. Had we not known the difference, she could have died right there.
And there were a number of other less dramatic occasions when being on top of the details solved all sorts of problems when dealing with non-specialist doctors. Which is not to knock them; there are a lot of ways that bodies go wrong, and trying to extract any sense out of the phone book of printouts and scribbled notes in my mom's medical charts is not something anybody could do quickly.
[1] http://en.wikipedia.org/wiki/Grading_%28tumors%29 [2] http://en.wikipedia.org/wiki/Cancer_staging
System specialists are an order of magnitude better. I.e. going to an Ear, Nose & Throat doctor if you have Asthma.
Disease specialists are the pinacle. Sometimes these are researchers rather than normal doctors.
In my experience, "an order of magnitude better" in specialists means they've at least heard of it, but know nothing about it. Every time I move, I have to spend some time educating my new specialist on the disease. I know damn well that every time one of them excuses themselves in the middle of the exam, they're going to look it up on the internet. It's pretty disheartening.
Doctors know very well that a person with a specific rare disease has a lot more incentive to have spent in-depth research on it than they did when they last ran across it...
I mean, these days there are whole forums dedicatd to a specific disease. If you told the doctor, "You know, I ran across a forum for people like me, a lot of people have said they had very bad results with (x) despite the clinical trials, so I would prefer (y)"...you don't think they would listen to you?
Where is this attitude coming from?
Recently, my sister (same condition) drove a couple hours to see a specialist who had obviously not read her file or done any research and made some truly awful suggestions (one that could certainly have lead to her death if she had followed it). He billed her for the time.
Doctors are like coders, some are orders of magnitude better than others. Some are so bad, they have a net negative impact on your health.
My girlfriend has a condition that affects 12% of the female population to a varying degree. Some doctors knew absolutely nothing about it. Some were able to solve it easily.
If the symptoms are 30% similar to a disease that 99.999% more common, and 70% similar to a disease that's 0.001% common, the doctor would still be correct most of the time by suggesting that the patient had the common disease, even though the symptoms were a better match to the rare disease.
If one in 25k people has the disease, you need a 1 million+ population for city to have a 40 (a lowball "few dozen") incidences of the disease, assuming random distribution. There's only 10 cities in the United States that fit that description* and only London is big enough in the UK. There will be only 100 or so the medium sized states of say Utah or Nevada
Takes a lot more than a medium sized town and that sounds extremely rare condition to me.
I come from a medium sized town. Given your numbers, there's a good chance there is no one in the town has this disease and i wouldn't expect any of the doctors to be knowledgeable about it.
https://en.wikipedia.org/wiki/List_of_United_States_cities_b...
https://en.wikipedia.org/wiki/List_of_largest_United_Kingdom...
When a patient presents with a set of symptoms, the doctor has to decide whether the patient has a boring common disease or the cool disease which is 100 times rarer. Human beings can't make good judgements about probabilities like that. If every doctor were trained to recognize a rare auto-immune disease that looks just like the flu, plenty of flu sufferers would be misdiagnosed. Far better to teach doctors the treat for flu and refer the cases that don't respond to a specialist.
It is a common problem with doctors fresh out of med school. Common enough that most doctors are taught to "not look for zebras when horses are more likely." If you spend enough time in a hospital you will hear veteran doctors dismiss interns and residents saying, "she's just looking for zebras."
Anyway, I found what I was looking for; I had read an excerpt of a book called How Doctors Think, where the author discusses the availability heuristic:
In the theory, "availability" is defined as the tendency to judge the likelihood of explanation for an event by the ease with which relevant examples come to mind. In a clinical situation a diagnosis may be made because the physician often sees similar cases in his practice — for example, the misclassification of aspirin toxicity as a viral pneumonia, or the improper recognition of an essential tremor as delirium tremens due to alcohol withdrawal in an indigent urban setting. Groopman argues that a clinician will misattribute a general symptom as specific to a certain disease based on the frequency he encounters that disease in his practice.
In reference to my first comment: Mis-diagnosing "cool, rare diseases" as the flu by definition can only happen very rarely. Coupled with the fact that people are often mis-diagnosed with rare stuff, means that your original statement that "it is far more common..." is obviously untrue.
It must be frustrating if you are the person with the rare disease. But "not looking for zebras" serves the other 99.9% of people quite well..
It is far more common for a doctor to underdiagnose a patient that presents with flu systems but actually has the "cool, rare disease" [with the flu than it is to correctly diagnose them the first time].
In other words, within the ecosystem of "cool, rare diseases", it's far more likely to be mis- or under-diagnosed the first time than it is to be correctly diagnosed the first time. One reason for that is they're not common diseases (so the docs won't have a lot of experience diagnosing it), but another fascinating reason is that they have already sort of diagnosed you in their heads before getting into the data.
If you're interested in the topic, you should pick up the book I linked above. There's a fascinating study in there that tests this problem: the study takes two sets of identical x-rays with an obvious primary diagnosis like a cancerous tumor and in one set, they add another problem (blocked artery or torn heart valve or something else obviously serious and life-threatening). They give the x-rays to doctors, inform them of the primary diagnosis, have them look at the x-rays, and track their eye movements. Here's the crazy part: every one of the doctors lingered over that second, undisclosed problem, indicating they saw something wrong. Yet none of them reported the problem. (It's been a while so I might have gotten the specifics wrong, but the gist is there. It's really fascinating and I encourage you to read it on your own.)
On a personal note: take it easy with the "by definition" and "obviously untrue" stuff. I know this is the internet and all but it makes you seem hotheaded, especially when we might be misunderstanding each other.
It is interesting about the 'bias' of doctors towards their own experience. I guess my point is that statistically this kind of 'bias' towards the most common syndromes is a net positive for society; it's an allocation of resources thing--we don't have so many doctors that we can afford them all to be running off on weird tangents investigating possible rare diseases that aren't there...
Again, sucks if you do happen to be the one in X thousand that has the rare disease. Am I being too utilitarian?
Regarding tone: apologies; I agree it was an overly flippant comment. It was more a reaction to some of the other doctor bashing that was going on in this thread that fails to see the woods for the trees. I see now that that wasn't your intention...
For diseases, you should try reading through the Merck manual (available online). Everything from gynecology, oncology, psychiatric conditions, is all there. If your doctor does a correct diagnosis by asking the correct "dumb questions" that is already amazing. Why should a general doctor be more of an expert in every condition than a person who has it? Look up any individual thing in the Merck manual and it has 2-7 pages. Why shouldn't a person who has that particular disease know more about it?
Let's make an analogy. Say your computer has obscure memory errors because you work in a place that bombards them with alpha particles (or whatever). ECC memory is very important to you. And, therefore, I would expect you to know more about ECC memory than "anyone except two engineers doing active research in this exact condition."
It's just one tiny thing in a myriad list of things to know. There is no reason individuals shouldn't take control over their individual conditions and become educated on this subject.
Let me put it this way. If you have a pet guinea pig with asthma, then within a day of learning that you should (or at least could) know more about asthma in guinea pigs than your vet does, because guinea pigs are just 1 species he or she deals with, and asthma is just one condition. Why shouldn't you know more?
Of course, there are systemic things that are very hard for you to understand about what you're reading, and on this you might have a much poorer understanding than your vet...you don't know how the parts work together. it might be obvious to your doctor that asthma puts the guinea pig at risk of - whatever, lung cancer if you smoke near it or whatever, I'm just making it up - just due to the organs involved, whereas you don't know this unless you read it. The point is that you can read all about one CONDITION but not about the whole system, which is what takes so much time to learn. If you MEMORIZE 3 pages of facts about your condition and read them out loud, then there are parts that you would read aloud that say nothing to you, but are deeply meaningful to a doctor.
When it's prescriptions and proscriptions, it's obvious. ('don't feed it raw meats'). When it's general descriptions then it is harder.
Basically, the proper relationship between a person with a rare illness and a GENERAL doctor is, person: "I read that this condition also puts me at risk of a stroke. Could you tell me what that means?" Because you don't UNDERSTAND what a stroke even means, the way a doctor does.
Then your dr. can proceed to fill you in on the parts you don't understand...even though they might not have even recalled that your condition increases the risk of stroke. (or heart attack or whatever). They're not walking encyclopedias, you know: they're experts, just like any other expert in any other field.
On the other hand, there really are things the lay person can learn and understand well, even in the complex human body.
I have an unusual, if not rare, condition (Crohn's Disease, which GPs now usually seem to have a decent handle on, but that wasn't the case 20-30 years ago). I've had the condition for over 30 years. Barring advancements in science (which I follow anyway) and other possible complications (which I would be discussing with my GP and GI docs anyway, much of what the system forces me to use them for is not only a waste of their time, but problematic for the patients like me because it forces me to wait for an appointment to get the necessary care.
When I have a flare-up, I know exactly what needs to be done. If I walk into a GP's office, or even a GI doc, all they're going to do is rubber-stamp the prescription I know I need, and ask me to come back later to follow up. I already know what I need, the system is just wasting everyone's time, and withholding necessary care.
The thing is that the human body doesn't really follow a strict blueprint: my own deviation from the norm is the reason I'm there in the first place! So by definition, the doctor can't just give me a textbook answer. It all depends on the way the disease affects me personally.
Now, it's true that I may not have sufficiently broad understanding to see when a complication is arising, to handle it specially. But that's no reason to forestall proper care. I'm perfectly capable of starting the treatment on my own, and visiting for further consultation in the timeframe that first available appointment allows. (If such a consultation is so critical, surely getting the treatment rolling is just as much).
But the way care is delivered now, the doctors comprise a priesthood to which we must show obeisance. In my experience, the system could work both more efficiently as well as more effectively if treatment were more of a partnership, with the doctor contributing the deep understanding that he's worked hard for, but a patient also contributing based on the very focused opportunity to learn about his own condition, especially given the unique and personal ways that illness can affect each of us.
Have you stuck with one GP or GI doc? Have you jumped around a lot? It takes time to build the relationship you are talking about. You can't ask for a "partnership" and then dismiss the other side ("priesthood").
I'm not allowed to have the relationship I describe. Even when I really do know the right answer, FDA laws require me to go to the altar of the MD to get a signed prescription. I'm forced to wait two weeks to get that appointment, even though I know the right answer.
(In reality, the doc is generally willing to call in the script on my say-so over the phone, but he's not supposed to do this.)
This being said, unfortunately, for every awesome, smart and knowledgable person, there are tens and hundreds of people researching their cough on the internet and wasting everybody's time.
That being said, yes, the system could certainly be improved in most countries. A hard part is managing responsibilities. The doctor you go to has the responsibility of giving you sound advice to the best of his (and hopefully the scientific community's) knowledge.
If he did not follow the methods laid out by standard care, he would not be doing that. He would be irresponsible. Of course, there are always things that are on the fringe but would be beneficial, but then again, who knows, he might just kill a group of people down the road because he gave a fringe treatment to the wrong crowd.
Now to the point you rose for your own situation: it seems that your GP seems to be making it fairly simple for you (in a good way). Or was that a hypothetical scenario with the quick rubber stamp and so on?
I have a friend with Crohn's disease. After 10 years on medication he injected himself with hookworm. He has now been medicine free for over a year with fewer symptoms than he had before.
I have a pretty dense medical knowledge compared to the average person. My mother had a lot of medical issues that I studied in detail. I have several of my own that I have also studied at great length, and I used to be an EMT. Waiting around and going through a tedious process for a new doctor to "catch up" with you is frustrating.
A lot of people aren't like this, though. I have a friend who, after weeks of not feeling well, had, at one time, read pages and pages of research on a particular disease and had convinced herself that this was the thing she had, this was why she was sick, and this was what she needed treatment for. What she failed to neglect was the title of the paper -- she had diagnosed herself with kennel cough.
As much valuable information as there is available on the internet, I also feel like the internet breeds hypochondriacs like nobody's business.
So I don't really think we need a change in the way healthcare is delivered, exactly. I think what we need is more education for would-be doctors about how to better engage and involve a patient in their own care and how to talk to a patient sincerely about their condition and evaluate the people who just googled something vs. the ones who genuinely know what they're talking about, and then how to work with the latter.
Good doctors will do this naturally, but a lot of doctors will take the attitude that they are the doctor, they know best because they have been to medical school. They may well have a better overall understanding of things, which can very well be extremely important when looking at how diseases and medications interact in conjunction with and affect one another. However, there simply isn't enough time for them to become experts on everything. There should be more emphasis on this fact and more instruction on how to work with the patients to make them the experts so that they can be more involved in their care.
I feel like I'm not making my point well, but this is starting to ramble a bit, so hopefully that makes sense.
Their facts are not wrong, they are just misapplied and someone with a more general understanding of physics knows that.
One of the facts quoted is that jet fuel doesn't burn hot enough to melt steel. By itself, that is true. But the temperature at which jet fuel burns varies depending on all sorts of conditions, and the standard lab setup is not at all what the towers were. For example, fuel in a jet engine certainly burns hot enough to melt steel, it's the limiting factor in jet engine design.
I believe there is no wide consensus on that point, in a scientific point of view.
Wow, I love it when people make an accusation and it's better leveled at them. It's your tone that I don't like.
The original posted was expressing a well-formed opinion, one that is backed up by a lifetime of experience, his and mine.
I can't claim to have an exotic or serious disease, but I do have a lot of chronic medical issues. I cannot tell you how many years I've wasted dealing with Dr's that 1) thought they knew what they were doing (YES, behaving God like!), and 2) had no clue.
The problem with Dr's is they are taught to project confidence, at the expense of their patients.
> thought they knew what they were doing (YES, behaving
> God like!),
Most doctors, when presented with a child who has one short leg, recommend amputation (the difference in length causes hip and back problems down the line). I'm sure the doctors could easily find out about Paley if they looked into it.
The parents I've talked to are the few who have refused to accept that they have no choice and have done their own research. My heart aches for the kids whose well-intentioned parents didn't question their doctor.
That said - I'm about to start work on very similar work now (also in the area of glycobiology). With dirt cheap exome sequencing, we're going to get a whole bunch of really interesting leads from the data. This means that the follow-up research into the mechanism behind the action of the gene can be more likely to yield results.
Right now, I see the bottle neck in this whole process being the actual experimental analysis of these mutations. Once we solve how to scale up this hard work successfully, we can start looking at curing these incredibly rare diseases.
From there, you build your model for how the gene works, and do some knock-outs / knock-ins, test it in various cell lines, verify the kinetics, try to find out the 3D structure. Really, anything you can do to get a handle on how this actually works in the system. It's quite normal for people to spend their entire PhD studying the mechanism of action for a single gene!
Thank you so much for the pointers!
Are you a grad student/postdoc/faculty?
I'm a postdoc computational biologist at the Copenhagen Center for Glycomics, so you could say this is somewhat up my alley ;)
Feel free to fire off an email (in the profile) if you've got any questions, and I can try to help out.
I genuinely hope you find a solution, will you keep updating on the progress?
My wife updates his progress regularly here:
http://overcomingmovementdisorder.blogspot.com/
The blog is oddly titled now, since we named it back when he was 8 months old.
Thank you for sharing, in great detail, the story of your struggle and I hope that in the end it is a story with a wonderful outcome.
Either way, it certainly a story of heroism.
Keep us updated.
The thing I kept thinking during the article is, "Is there something that I, as a programmer, can do to help people like Bertrand?"
Is there some way that we programmers could use our talent to augment or advance existing technology in this area? I realize that the science involved here is non-trivial, but it seems like a really fascinating subject area to get involved in. Perhaps I just need to bear down and brush up on my biology.
Finding a mutation is just the start of the journey for someone like Bertrand.
Once you find the mutation, you have to figure out what the mutant gene does versus the normal gene.
Duke had to work with a lab, culturing cells from my son and poking at them to figure this part out.
If we were better at predicting the structure of proteins from the DNA that encodes them, we've taken a big first step toward automating/simulating the "functional work."
Protein folding is a nasty research problem at the intersection of chemistry, biology and computer science.
There's a major problem with incentives in attracting people to research. Why should supply and demand behave differently at universities? I believe that research is an example of the tragedy of the anti-commons.
If I were to jump back to computational biology my lifetime wages would conservatively decrease by $5 million, non-inflation adjusted. Many people are unable to accept lower wages for more interesting work. The wheels of scientific progress will turn slowly as long as it is the sole realm of those able and willing to accept substantial economic sacrifices.
I want to help, I'm just not able.
There are a lot of problems to be solved that might benefit from computer science. De novo Protein structure and function prediction, better alignment from noisy data, drug target discovery, homology modeling in the twilight zone, better ways to share the data that we do have, better databases to store the data from high-throughput experiments, better ways to compare pathways and biochemical networks, and all of the other things that I could go on to list.
There is no shortage of problems to be solved, only shortages of good people and funding.
It's worth mentioning that some of the best tools for letting us do something with it come from the current facebook. I'm constantly tempted to move into academic research rather than helping people get their porn faster, but it seems like a very superficial judgement to say that would be better for humanity in the long run.
It is frustrating seeing all of the failed startups that thought their poorly thought out plan and execution would create a product that is actually useful. We would be much better off if someone would take the time to explain to people why their idea sucks and save them the time and money that would be wasted on executing it.
Tell me what you think.
https://www.counsyl.com/about/jobs
There are a lot of Hacker News people working here. And while it's sadly not in time for Matt and his son, we are launching a version 2.0 assay soon that should save couples in the future from ever going through something like this again.
Science does work. The confluence of technologies - search, websites,email, computers, bioinformatics, pharmacology, medical technology (and if hirenj's* advice proves useful then forums, it should be at the top), such that someone can identify, diagnose, commision/customize medication and possibly treat a completely new disease in the span of a few years..The future really is here. An ode to the open source technologies and not so open research that made this possible. Of course it is worth pointing out that the skill required to research, evaluate possible leads, try then untry possible treatments, contact and manage communication with the researchers is also not to be underestimated.
A good argument could be made, that bureaucratic regulators who get nothing if your son is cured, but could get in trouble if something they allow hurts him even more, are partly responsible for slowly killing him.
For individuals in a dire enough state, a more intelligent set of regulations could be something like if enough well known and respected doctors agree this is worth trying, go for it. But bureaucracies are rarely intelligent.
It's just that most of the time bureaucratic involvement creates frustration, costs money, takes time, kills economic growth, etc.
But when it comes to life threatening disease and potential cures, bureaucratic involvement might actually cost lives. Because it is not optimizing saving lives, it is optimizing "safety" over lives, because it is actually optimizing bureaucratic ass covering.
And the pharma industry's own actions show that they know they're vulnerable to torts. That's why they lobbied for laws like the Vaccine Act of 1986, which limits their liability for damage caused by vaccines.
Ok here's a guess:
Assuming missing deglycosylation and N-Glycanase's involvement in ERAD (endoplasmic-reticulum-associated protein degradation), perhaps there is amyloid fibril formation due to faulty protein degradation?
If yes, you may want to try out green tea or some kind of extract from it, in particular Epigallocatechin gallate sounds interesting. Besides antioxidant activity (which i guess could help with excessive glycosylation causing an oxidative environment), EGCG is thought to help in various diseases where protein aggregation plays a role. You can find lots of papers on this if you search for "epigallocatechin gallate amyloid" on Google scholar. I'm not a doctor, just a grad student (thanks for the guide!), so you should check with one first if that makes sense.
If we get everything done properly, approval could be granted within 30 days.
But, before we can apply to the FDA, we have to get Genzyme to agree to make a variant suitable for human use.
My wife found studies where it was beneficial to mice that had chlamydia and pneumonia, so we know there's a form out that that's been used on mammals.
On a completely unrelated - and irrelevant - note, I find your writings fascinating.
We need to get FDA approval, and we'll need Genzyme's cooperation.
Even though his disease is life-threatening, his seizures are worsening and he continues to lose white matter, we'll need to prove that it's safe."
It's shit like this that makes me hate the FDA.
So, what? You'd prefer no enforcement of basic drug safety testing?
There are reasons why we have the controls we do in medical trials, other than just to provide busy work to career bureaucrats and generally make trouble for sick people. There is a process for getting patients access to investigational drugs, but you still typically need to do some paperwork in order to provide the drug to the patient.
Given this is a new use of an existing, approved drug, this should go fairly quickly.
If only there was a middle ground of some kind.
If you could enter a bunch of positive and negative statements together with various medical records, and have the computer being able to ask additional queries, it seems a good system would be able to narrow down a list substantially. It would also side-step a lot of cognitive problems we humans face.
Now, I'm sure there are systems like this but they probably just aren't sophisticated , widespread enough or don't have large enough database. Or have they simply not yet reached widespread use because they cost too much, what's holding them back?
* Found this article on the topic: http://www.informationweek.com/news/healthcare/clinical-syst...
A few impressions:
Although the author removes much of the emotion of the story, I still sense the undercurrent.
The future is going to be strange. Way more complicated than science fiction, our guidestar for so long, led us to believe.
I hope that when the time comes, I will be able to measure up to the author as a person, as a parent, etc.
When a mutation occurs, there are four possibilities for
the mutant...
You could say there's three types of mutations: genes that do not affect evolutionary fitness, genes that increase fitness (faster running, better eyesight, etc) and genes that decrease fitness. (chromosomal trisomy, which either instantly kills the host, or greatly reduce its fitness)
And, of course, fitness is relative. Heterozygous HbgS makes you resistant to malaria, homozygous HbgS gives you sickle cell anemia. Being tall adds fitness in a calorie-rich environment, but reduces it when food is comparatively expensive. Etc etc etc.
But you probably won't want to double the length of the article, by going into even greater depth on genetics.
Exomic sequencing is so efficient that it will likely replace testing for individual genetic disorders one-by-one in the near future.
In the pilot study at Duke, they diagnosed 6 of the 12 children, each of whom had an ordeal very much like my son.
In the rare disease community, this technique is unparalleled.
Becoming a parent is an awesome experience--one I wouldn't trade for anything.
I can still remember time freezing the moment each of my kids was born.
I wish you, your wife and your little one the best.
Thank you for an inspiring story and your exemplary perseverance.
Your question is valid. I wouldn't expect Genzyme to do much unless there's profit (or at least little cost) involved.
Fortunately, Genzyme might not need to do much, since the enzyme is already in production, but for laboratory rather than human use.
I'll admit I don't know much more will be required to take what they injected into mice to the point where we can inject it into Bertrand.
We're learning on the fly.
Since Genzyme holds the patent, I think we'll at least need their permission to use it in a clinical setting.
We're also actively searching for other NGLY1 patients. There may yet be a market.
We're also investigating other possible clinical applications of N-Glycanase 1. My own early research indicates that it may help in cases of severe jaundice--a much larger market.
I'm optimistic that we can get Genzyme's attention.
Whats the best case scenario for your son? Suppose everything works out perfectly with the treatment/therapy, is it expected he'll start to develop normally?
But, if we can stop the seizures, he might be able to start learning.
He advanced very rapidly during the two month break from seizures that he got from ACTH.
If we stop them soon, there's a good chance he might be able to walk and talk some day.
Regardless of how far he develops, he'll be much happier than he is now.
One of my best friends recently had a son with a rare bowel disorder, requiring a full bowel transplant, and he's been saying that every day they are educating the doctors on what to do, up at all hours calling all different countries. They've been by his side in hospital since his birth, but it's incredible to see the pics of that baby laughing like a champion!
It's amazing that you were able to learn so much about his condition. It gives me hope for the future of medicine, because I sometimes feel like we are still in the dark ages.
I hope you have success with the treatments.
Edit: I have managed to read the whole thing and, no, it doesn't answer my question. The closest I get is that some enzyme is not being produced. For me, that is insufficient info. Moving on to the blog but would still be happy to get an answer here. Thanks!
NGLY1 is also the name of the enzyme.
This piece is interesting to me because I have a form of cystic fibrosis, which is a genetic disorder. Long QT waves -- the heart problem the child had from an antibiotic -- can be caused by a magnesium deficiency. Magnesium supplementation helps a lot of people with CF. Also, they mention a possible treatment for this condition that is currently used for some people with CF. So I am wondering how it relates to my condition, basically. But I have gotten well by framing the question different from the medical community and others with my condition.
In cystic fibrosis, the miscoded protein is the CFTR, which handles traffic into and out of the cell for certain specific molecules. Understanding which molecules are impacted was enormously useful info. People with CF are routinely put on digestive enzymes, which I no longer require. So I am trying to understand what is going on with this child in terms which make sense from my mental framework regarding my genetic disorder and "enzyme deficiency" doesn't sound to me like it is really the root problem (but maybe I am an idiot -- it would hardly be a first). That may not be possible to achieve but I will work on it anyway.
Thank you for replying.
Imagine one part of your car was randomly the wrong shape. You'd have Twisted Wheel-Nut Syndrome or Split Spark-Plug Disease or whatever, all of which could be caused by badly copied blueprints for the car.
Thanks for replying.
There are many, many, many proteins for which we are discovering new functions each day or for which we know of no known function in cells.
I know what the author goes through and it's hearth breaking to see your own child suffer. It's the worst kind of pain imaginable.
The morning after Bertrand was weaned from ACTH and the ketogenic diet, we heard something we hadn't heard before: laughter.
Still bloated and near death, in his hospital bed, he was laughing.
Everytime the laugh track came on the hospital TV, he chipped in.
It was the most direct sign of Bertrand's humanity we had ever seen.
Cristina was in tears.
As some one who is not married, has no friends, doesn't understand women and kids, Spends whole day in front of a computer. I hope someday I will have a family to truly understand what you are going through.
I hope and pray your boy recovers. The conviction and faith in which you write has me convinced that being parent is a sublime emotion which every human being must experience.
Would you "just" kill your son if he wasn't healthy enough?
regarding your question, there are two different scenarios:
1- my son reaches the necessary neural development stage so that he is conscious, self-aware, interacts with other humans etc. then we can't kill him unless he requests it.
2- he has never reached that stage so he has not any personality, memory etc. then we can kill him. because there is not really a "son" here, not yet.
in fact, we humans continously kill pigs, dolphins and other animals that are more intelligent and conscious than a newborn.
Do you know if the enzyme crosses the blood brain barrier?
It was a few years ago, but feel free to ask questions.
I hope you are able to take at least some comfort from actually knowing the cause of your son's illness. Some people aren't so lucky.
I had my own medical struggle while in the middle of grad school. Mid October a few years ago, I contracted a rather nasty respiratory infection. Among other things, I was severely fatigued and needed to sleep for extended amounts of time (think 12+ hours a day). The excessive sleeping didn't worry me while I was busy hacking and coughing, but when the respiratory symptoms had gone away a couple weeks later, I was still left with the extreme fatigue and hypersomnia.
Normally, I'm not one to run to a doctor at the slightest sign of any illness, but I began to get worried a week or so after the acute infection passed and I was still sleeping a minimum of 12+ hours a day. (I should emphasize, too, this really was a minimum, not an average -- I'd typically wake up around 8 am, go to class and do other things until around 2 or 3, come home and fall asleep around 4 PM and wake up and do it again the next day. One weekend, I think I was awake for a total of about 8 hours over the two days.)
I went through the usual struggle anyone who has anything that's at least mildly rare goes through, and, after visiting a sleep neurologist, I got my diagnosis: post-infectious idiopathic hypersomnia. I then knew this was a problem that was going to take months or years to resolve, and, for a while, I thought my life was effectively over.
But, the real kick in the teeth was that word, "idiopathic." There's a great line on an episode of House where one of the fellows suggests a diagnosis of idiopathic something-or-other, and House responds "'idiopathic,' from the Latin meaning we're idiots because we can't figure it out." So, there I was, with a diagnosis that amounted to "you sleep a lot and we don't know why," and the only treatment available was basically stimulants to treat the symptoms (which didn't work well at all -- I slept less, but I was walking around like a zombie by early afternoon every day).
Looking back, I consider myself lucky that it happened while I was in school, since I could have easily found myself unemployed and broke if I were in less flexible circumstances at the time. I'm also quite lucky that it resolved itself within about 9 months. I effectively lost a semester of grad school that I had to make up later, but I recovered, and it should never recur.
I don't know if what I had is what would be considered a "rare" disease by the strict definition, but it's rare enough that your average primary care physician might not ever see a case in his or her life, and a sleep specialist might see a handful. It's rare enough that there don't seem to be any studies or research available on the condition, on top of the obvious difficulties of studying people who effectively have to sleep 1/2-3/4 of the day.
So, back to my original point: my best wishes to you and your son, of course, but please take comfort in the fact you know exactly what is wrong.
There are thousands of unwanted children that would benefit from having such a thoughtful and dedicated set of parents.
Is it pure egocentrism that keeps high-risk parents from adopting?
If it's not, I'd love to know what it is. Aww, downvotes from selfish people. Love doesn't require blood.
After consultation with our medical team, they concurred that a de novo mutation for Bertrand was a strong possibility.
And, in truth, the conditional probability of de novo mutation for Bertrand was much higher than what actually happened--two independent mutations in the same gene colliding with one another.
If we had known the probability for Victoria was 1/4, we never would have gotten pregnant.
Ignorance was bliss.
On the one hand ours was a one-off event and subsequent kids should be fine. We've always wanted two, and it's been such a wonderful experience that we want more of. So there's that.
On the other hand, the months of treatment after diagnosis were the most emotionally draining experience we've ever gone through, and we don't know if we have it in us to go for number two. We're still in the early days (diagnosis + 9 months, all signs pointing to cured) so this may change, but active parenting causes healing and recovery to happen much slower.
My wife (and her brother) are also both adopted, so we're well aware of the dynamics involved there. We've said since before we started trying for kids that we weren't going to beat ourselves up if we'd had problems conceiving (we gave ourselves nine months of trying before we'd look at adoption. As it turns out it only took us one). One could probably argue that the truly optimal thing to do would have been to forego trying biologically at all and to jump right into adoption, but that didn't feel right either.
All of which is to say that I don't think it's egocentricity per se, but a natural desire to at least try and see your genes successfully expressed in the world. While that's not ideal from a rational perspective, I don't think you can go too far down that line of thinking without verging into eugenics.
There are perfectly good babies out there that need love and care, and by making your own you are basically saying "fuck them, the one that shares my DNA is better".
I don't think it's unreasonable to assume that my kids will turn out to have traits that I liked in me and my parents. Just because of that, I would rather conceive.
Or to phrase it another way, they're behaving the way animal species have for millions of years.
Interestingly enough, adopted children tend to resemble their birth parents much more than adopted parents in the "Big Five" personality traits, and twins raised apart from each other resemble one another to a shocking degree. Bryan Caplan's book Selfish Reasons to Have More Kids discusses many of the studies that have examined these issues.
If you want a kid who is "like you," your optimal choice is probably to have biological children. The joys (and problems?) of being a parent, however, appear to be universal. Note that the first paragraph and Caplan's book are not an argument against adoption, but they are a reminder that genetics appear to have a much more powerful influence on people's personality than most Americans / Westerners wanted to believe for a very long time.
Before you have children, understand that it's for the rest of your life. Really understand the impact. Your concerns are second, beyond anything you've ever understood. Marriage is about compromise. Children, however, afford no such privilege.
Make no mistake, it's worth it. Looking into those eyes, seeing that smile. Getting your first smile, laugh, hug, or kiss. Nothing compares.
Once the infant is out of the womb, everything change instantly without any interference by anyone, anybody, or anything else. The child will change your brain, your mind, your heart, your lifestyle, and your future at that moment of birth. The child IS that BIG.
I cannot say how much I respect parents, even more for those who have children with special needs.
Life is really beautiful isn't it? (^_^).
Halfway through the article I started re-evaluating whether I still want kids. Not sure I could carry that burden. [] Though that is probably more on a logical level than feeling the raw emotion that a parent would - which is probably what you were getting at.
More accurately I know I could out of necessity carry that burden. Its everything else in life which would be more difficult. Kinda like a warrior without family at home has the luxury of adopting a devil-may-care attitude to combat - once others depend on him that isn't possible anymore.
Life will change, and everything will never be the same any more. Just like moving from childhood to teenager to adulthood. Whatever you think you can't do before, you will do it eventually.
Whatever you think was great, isn't any more. If you think building a successful billion dollars company was cool, is not any more but instead running a mISV building specific desktop Windows application or Nokia S40 mobile app.
Suddenly, your priorities change without even a slight of internal struggle (no more "NO, I insist I want to become X"). It just... happened.
Matt is a CS prof that blog and still have time to explore various technology despite the challenges he is currently facing.
Life... is what you make it.
when you get married, it changes the way you relate to your spouse, to their relatives, and to others who used to be "dating prospects" -- so, maybe 1/10 of the people you come in contact with. That's a pretty big deal.
when you have a child, it changes the way you relate to almost everybody, even people you've known your entire life. Your parents become "grandma" and "grandpa"; your siblings become "aunt" and "uncle". Even you become "daddy" or "mommy". Your friends are no longer just people you hang out with, they're people who influence your child. Every decision you make now gets framed in terms of "how does this affect my kid?" It's an order of magnitude bigger than marriage.
Nobody is ever really ready for it, but most of us figure it out. And I think it's totally worth all the struggle. (My mildly autistic 2 year old just drew a letter F with sidewalk chalk, on purpose, and it made my day!)
Years 11-20 - manage the child's other needs - worry about getting into a good school/college, making sure there is no bad company, and making sure no bad mistakes are made which can be made very difficult due to teenage defiance to old values etc.
Years 21+ - child will leave and stay separately - you should more or less start becoming free once again. That is if you do not have a second child!
Sure, we're programmed to behave with an otherwise inexcusable amount of irrationality with our kids, but that's not by accident. If anything, it demonstrates the level of evolutionary importance in keeping our offspring healthy and ensuring their success: it's such an important directive in fact, that evolution has deemed it more important than the needs of the parents to 'play [their] games, go to [their] parties -- read book[s]...or code'.
I'm not going to tell you you're objectively wrong on this, but I will tell you that you have no idea what you're talking about. Life is a squishy, inconvenient, and occasionally beautiful endeavour. Realize that.
You aren't gay, so you can't pass judgement on gay rights.
You don't smoke weed, so you have no say in the laws
The thing is. You can still have an opinion (and pass judgement)..even if you haven't experienced it yourself.
I'm not saying that the OP is wrong or unentitled, I'm simply saying that they're exhibiting a potent mix of naivety and arrogance that they may want to be more aware of. Or, as my sibling poster said in a better way: "Don't presume in your arrogance that you know quite a bit about something you have zero experience with."
Your corrected analogies are as follows:
You aren't gay, so you can't pass judgement on what it means to be gay.
You don't smoke weed, so you have no idea what it's like to be high.
Both of these statements are perfectly valid, and having a bunch of straight people talk about what it is like to be gay or a bunch of prudes talk about how out of sorts you are when you are high is pretty ridiculous.
Regardless, I have met parents who feel that way, and it can often turn out poorly for the child, though it really depends. One person I know who feels this way is a DBA who earns more than enough for his wife to raise the kids. She works part-time more to escape cabin-fever than to earn money and seems happy with the arrangement. His long work hours means he doesn't have to deal with the kids any more than he wants to.
The difference is that someone who is a parent has also been a non-parent.
Someone who is a non-parent has never been a parent.
You could argue that non-parents may also be under the influence, but having formerly been a non-parent doesn't necessarily mean you're not rationalizing your choice to make you feel better about it.
Child commits Suicide
Child forcibly removed from parents by the government
Child classified as juvenile delinquent
On the other hand I have seen it work out okay in exactly one case, so there is a clear counterexample. Mentioning the details of that was likely a mistake, as you point out.
There's an obsession verging on dogma in much of the hacker world that rationality is the only path to correct action; that by virtue of being hackers we are all somehow divested of otherwise human frailties like emotion, love, and irrational behaviour. As one of the commenters on this thread so wonderfully said:
> No, you're not some amazing savant that has popped up out of the mass of mediocrity that is humanity.
We are, every single one of us, a fallible creature full of fault, vanity, and ego. To argue that I am under the 'influence of cognitive dissonance' because I am falling prey to one of life's most unstoppable impulses is perhaps the strongest example I've yet seen of the absurdity of rational behaviour as the highest truth.
There is a time to be rational and to appeal to such sensibilities, and as hackers we live in those times more than most people. Crafting, debugging, and similar work pleads for rationality; indeed it is a necessary ingredient for much of the work a hacker does. But its applicability has definite limits, and as with any tool it's critical to know where those limits lie.
The core act of deceit comes when, drunk on the power and clarity of thought that rationality brings, the hacker mind tries to apply this tool to matters of the heart or soul. To pretend that the behaviour of a parent towards their child has its basis in rational thought is to presume rationality is a more human trait than love, or than the desire to express one's will on the world.
When parents say things like 'I love my kid so much that it makes my heart hurt', they aren't being flowery; that's actually what it feels like. A feeling so grounded in the core of our existence as a species that it's inseparable from physical pain; to try and apply rationality to that is the height of naivety. Likewise, when people say things like 'you can't understand unless you've had a child yourself', they aren't being dismissive. Parenthood isn't just another mouth to feed or diapers to change. It is a rewiring of your mind and your soul so complete and severe that it can turn love into physical pain. It is perhaps the most human event that has ever occurred in my life, and I suspect most other parents would say the same.
I have weeped openly for days in both happiness and fear for my daughter's well being. I have walked away from a life that took me a decade to build in order to ensure her health, and I never once questioned the correctness of that decision. Many of my decisions as a parent have been made in the face of rationality, made on a balance of many factors of which the rational course of action was just one. Walking that razor edge between the rational way and the biological imperative is an essential skill of any parent. It is a path impossible to describe yet clear as day if you just know where to look.
The only objective truth is that there are no objective truths. I won't pretend to say that my perspective is any more or less correct than anyone else's, but I will say this: rationality is a double edged sword. It is a potent weapon against bugs, suits, and dogma, but it is also capable of separating you from that which makes you human. Like any tool, it's up to you to decide how to wield rationality. Please just know the consequences before you start swinging it.
Even removed from the "kids aren't so great" angle you are saying something I think a lot of people - especially on HN - need to hear, and you are saying it well. Cheers.
Calling it "cognitive dissonance" may be condescending, but consider that telling people without kids, "you simply don't get to pass judgement on this" can also come across as condescending. It also doesn't help to start the comment with "balls to this."
I don't think the issue here is rationality vs. non-rationality, but rather allowing a diversity of opinion. If your perspective is not more or less correct than anyone else's, then what was the problem with altrego99's comment? Who are you to tell him what he can and cannot think?
Thinking decisions through and being honest with yourself is a GOOD thing, particularly in the case where it will affect the rest of your life and the welfare of one or more children. Rationality is a value.
Nobody has claimed to be an amazing savant. People do have different priorities and not everyone is the same as you. If I like salt and you do not like salt, then each of us can be rational while doing a completely different thing.
If you mean to show that reason has limits and that it has terrible consequences then unfortunately you must use reason to show that, and I cannot see that you have done that.
All your accomplishments are pointless without your child next to you.
> Yes you'll see it learn, smile, grow up
It? Nice.
> But you will not be able to play your games, go to your parties - read book or contemplate on life, or code without expecting interruptions.
Sophistry. You don't even understand why you do all of those things. You simply enjoy them and that's an end in itself.
No, you're not some amazing savant that has popped up out of the mass of mediocrity that is humanity.
You enjoy all of those things to gain the capacity to enrich the life of your child. No child? All the stuff you enjoy loses its meaning.
You enjoy all of those things to gain the capacity to enrich the life of your child.
I'm unconvinced. There are many worthy things in life; children among them. Doesn't mean your life is worthless if you don't have them.
On the other hand, a man who spreads his genes by rape may be having lots of kids, but he is not doing a good thing, and is probably not leading a deeply fulfilling life.
The case of adoption and the case of rape say pretty clearly to me that love is more morally fundamental than differential fecundity.
The moral purpose of your life is not given by population genetics in any case. It is an error to conflate purpose in the adaptationist sense with purpose in the sense of your life's fulfillment or your moral values.
Different people are suited to different ways of living, and find different forms of fulfillment; it is part of what makes life varied and interesting.
I personally have never leaned towards having children, I have friends and family with young children and I see the benefit and joy they get, but for me its never been a personal goal or desire. Maybe one day it will be and my viewpoint will change.
I consider the fact that I travel the world and experience amazing things, have tried a startup and am socially active most evenings a pretty good testament to having 'lived' as you would call it.
BTW, that's a quite smug attitude, no doubt shared by many people, but I personally do not consider reproduction a worthy goal in life or indeed an accomplishment at all. Raising a child well, yes. Getting your sperm in an egg or getting sperm in your eggs, no. To further elevate the life goal of reproduction to the only worthy life goal for humankind to the point of considering people who do not reproduce to be lifeless borders on the ridiculous (not to mention disrespectful to people who can't have children, or for whom its hard (gay people, for example), or people who simply choose not to have children).
2. Population fitness can be optimized by many activities: food gathering, art, research, supporting peers, etc.
3. Meaning is a mental construct. Arguing over the absolute "point" of life is pointless, because the epiphenomena of "value" is a chemical cascade in our brains and can be coupled to almost anything. At best we deal in probabilistic generalizations, like "most people find having children rewarding". It's equally valid for someone to find deeply rewarding value in rebuilding engines, and many do.
More directly: I'm gay. I can't reproduce naturally. If you think that makes me less human, let alone less alive, kindly go fuck yourself.
So me, being a gay man, married to a gay man, with a dog, but no children - I am not really alive?
Not to mention, considering we have close (maybe more) to 7 billion on the planet, I think a little selective parenting is in order.
I recall explaining this to you before. I will value your comments much lower in the future, since I will always have to watch for you being equally irrational about other subjects.
altrego99 is expressing a considered personal view with which you disagree, not insulting you or the mass of humanity. You are entitled to your personal view as well. But you could recognize consideration of the issue as a good thing and the disagreement as normal and healthy. Instead, you are calling people terrible names and picking on grammar, without provocation. Please don't continue in that vein.
I think for most people, you are right that having a kid is a fulfilling thing. I am personally glad that someone is having kids (particularly if they are doing a good and thoughtful job of caring for them). But the implication that no one with kids could ever disagree with you is not correct - though it is unlikely that they will bother to do so in public. I have talked to several people who do regret having kids (particularly in a certain time or situation) but they are not so likely to say it - both because of the kind of aggressive reply you have given but maybe also because they are likely to be wrongly taken as saying that they do not love their children, or that they wish the child did not exist. A person can believe that having kids is not necessarily altruistic, or that there is no moral or practical imperative to have kids, without being an awful arrogant psychopath.
Before you have a child, there is no child to wish the nonexistence of. And since it is an irreversible long-term decision, you should definitely think about the pros and cons in a rational way. Many people do come to parenthood by a reasonable, conscious choice and that is a blessing. Other people decide not to. If that is in their best interests then good for them. Perhaps there will be a future time where it does make sense to have kids. Leave them be. It's a personal decision, not a moral necessity.
Not everyone has to get married, either; not getting married doesn't make you a psychopath or a pathetic unfulfilled person, even if it's a nice thing and a great life work for many people.
It is impossible to speak about any subject intelligently unless you have experience with it.
That's just how reality works.
If that offends your sensibilities, may I suggest you're a tad too sensitive?
Someone who's never loved can't say that love is overrated.
Edit: fixed typo
How about this: living without children at this time in your life where you currently have children is awesome and amazing, and you'll never understand how great it is because you have children. Yes you lived without children before but you were younger then, it's totally different now.
It's impossible for you to disagree with me, because you have no experience in this situation. It's just how reality works. Something something sensibilities.
It's impossible to speak intelligently about parachuting when you've never parachuted?
It's impossible to speak intelligently about being deaf when you're not deaf?
Hence my downvote.
For some people, having children is not worth it. For others, having children is.
Every person that has ever entered into the "mass of mediocrity that is humanity" was born at some point and, as the mass of mediocrity is by definition what most people will end up being (by your own words) a part of then why add to it when one does not desire to do so?
The comment you're responding to raises perfectly valid points. Sorry, but in my experience having children does not change your life into a love-fest revolving around them. You miss out on a lot of perfectly fulfilling hobbies and a lot of time. There are upsides, but it may or may not be worth it to you. I think deciding against it may be a better and happier option for many people. You can't just count on the experience of those such as you who are apparently so happy to be a parent that it makes you angry at those who suggest it might be otherwise.
Now what, are you going to call me a psychopath?
Can you contemplate that if you are having heterosexual/breeder sex, you may have children even if you never planned to?
He's basically playing the odds, but like I said, mangled his comment.
Enjoying parties, games, books, and coding has its roots in genetic conditioning, too.
Yes, it's genetic conditioning, but I have been on this planet 37 years and have never experienced emotion on any scale anywhere approaching what fatherhood has given me. Here's another secret - it's completely different the second time around too!
I'm struggling here to find an argument that would help illustrate this to a non-parent and I am failing. I'll leave it at this:
I would give up everything I'll ever do from now until death - my entire existence - in exchange for my children's without more than a 30 second thought. That is what parenthood does to you.
It's fucking great.
No, that is what parenthood has done to you. And I'm glad for you but you don't have to look far to find people for whom the effect was less than positive and if I relate more to those people than to you then I would do well to heed their warnings than your espousing of supposed absolute truth.
Seriously why is it that parents want to convince others who don't buy into the whole pronatalist view so much that having kids is always, every time, and in every way, the most positive, ultimate experience any human can have?
Being a father/mother is simply the best thing you can do with your life (Unless you hate kids, or are too "grown up").
Like I said, there are plenty of parents who would say it is not. Why should I take what you say as truth over them?
I wanted to have children from when I was about 10. I knew that it would be the most important thing I was to do with my life, and that's how it's turned out.
FWIW I don't know a single parent who would say that it's not absolutely awesome to be a parent. Maybe I don't know many bad parents...
I'd submit too that perhaps a lot of it is self imposed, as witnessed by your comments in this thread that immediately assumed more than one person was of the opinion that we are somehow insinuating you are a lesser person from not having kids.
Outside of your own family, there's not a heck of a lot of pressure to have kids these days. Your family though is - respectfully - your problem. :-)
I thought it was self evident what perspective I was coming from, but just in case it isn't, let me clarify that I'm not speaking about strict orthodox Jewish cultures, east Indian patriarchal cultures, or what happens in the Tibetan foothills, but of the mainstream, celebrity worshiping, I want pleasure now North American public.
I don't know what it's like in San Francisco.
Having had an experience and not desiring to repeat it has nothing to do with whether or not you were good or bad at it. Plenty of bad parents out there who for some reason keep having kids and will probably tell you it's the most awesome thing and most of the good parents I know take a measured approach to their own procreation. Some have honestly said they probably would not do it again - of course who knows as they can't go back.
Sorry but it sounds as if you have some personal issues. I'm telling you that being a father is awesome because it is. If I told you that skydiving is awesome, would you comment how I was talking about how skydiving is awesome as if it was some sort of absolute truth? Of course it's my experience. All my opinions are my experiences.
If you are already a parent and hate being a parent, wishing for a life without kids (I too, know people like this), then I concede your feelings are valid, and feel sorry that you haven't been able to take the same things I have from this experience.
If you are not a parent, you are essentially arguing from a position of ignorance. Because of that, your opinion, while valid, comes with a huge caveat. It would be the same as me as a man trying to provide an opinion about how wonderful pregnancy is.
I have had a lot of wonderful experiences in this life. Falling in love, jumping out of a plane, personal achievements of all sorts. None of these experiences compare to fatherhood in any way that I could even being to relate them. Sorry, but that's not something I'm going to keep to myself.
I'm not telling you to have kids. I'm not a pusher, and to be quite frank I personally don't give a fuck about how you choose to live your life. I'm telling you that having a child has been the most positive, ultimate human experience I've had. Why should I deny this because you've got your ovaries in a knot?
I have a good one: "opinion".
I have another great one for when someone won't leave you alone and insists that you hold their opinion or there's something wrong with you: "fanatic". See also: "jerk", "creep", "weirdo", "person I avoid".
I really don't get these quasi-political categorizations. If someone's being a jerk about their opinion, they're a jerk. Words like "pronatalist" just strike me as unbelievably effete. Like "pronatalists" are this powerful lobby group from whom we all need protection.
If someone won't shut up about their opinion and keep trying to push it on you, they're just a jerk, and probably kind of stupid too.
Sometimes people are jerks, that's not polarization.
Not all people make great parents. I've hated my parents for as long as I can remember. They didn't appear to enjoy being parents either. The daily beatings were really annoying. I'm glad you're happy, but the world isn't a Disney movie.
I can guarantee that you as a child you did view them in awe and they were your heroes until you learned that they weren't very nice people. It's difficult to love someone and not have that love returned, but I'm making the assumption that the person receiving this love from their child is open to it.
I'm sorry if I offended you, and hope that maybe one day you can break the cycle of hate with a family of your own if you so choose. The world (well, North America at least) needs more good people having kids.
I still don't have kids but I'm not anti-kids anymore so if one day it happens I'll be ok with it. What changes is that you go around year after year and you start to see things become a bit repetitive. Holidays with the family, celebrations. Your family starts getting smaller. You start to see how much fresh new energy kids bring to life in general. You start to chill out about the crying and hassles that babies bring and not see them as so much of a burden. All of the things that you've done a million times are suddenly new and exciting because you have somebody to share them with and pass off all of your knowledge, show them all the tricks you've learned in life. I didn't really feel any of that until I had nieces, but I really love hanging around with them.
As long as your child is healthy, it's perfectly possible to wean them early, send them to child care, get them to sleep through the night by not rushing to their side every three seconds, train them to play quietly by themselves, teach them not interrupt their parents when they're busy, get babysitters whenever you have a social occasion, and put your relationship with your spouse first and foremost. Your kids will be just fine.
Does your comment assume that the hypothetical subject (i.e., ``you'') has a stay-at-home spouse?
Beware - selfishness feels great but is short lived. Traveling, working, partying, loafing around in your free time. These things get old and eventually you feel empty and Unfulfilled...
How can you predict what brings fulfillment to others anyway? Others may say to you that you will likely spend your latter years and die a miserable lonely recluse in a filthy nursing home. While they are cared for and having a happy existence with their children and grandchildren.
Rationally there is no point in having children at all.
And speaking statistically, research shows that parents are no more happy than are those who are not parents.
Seriously - I'm not trolling or trying to be abusive. It seems to me that's literally what you're saying.
Life isn't rational. Pleasure isn't rational. In the grand scheme of things, no achievements are significant or meaningful. But that's no way to live a life, IMHO. I know I'm far happier with my children than at any other time in my life, and I only had them when I was in my mid 30s, so I have plenty of perspective on life with them and without.
Yes it was hard work, but so are most things worth doing in this world. I may not really believe that which does not kill you makes you stronger, but I some of the hardest things I've done in life (armed service, relationships, children) have enriched me the most as a person.
I can't say the same is true for everyone. We all have different hopes and needs, desires and goals. I'm happy with mine, and sincerely hope yours work out as well for you.
I'd scale that back a bit and say "it's entirely possible none of your achievements (or your children's) will be seen as 'significant or meaningful' to others". But the achievements of people like Norman Borlaug or Alexander Fleming have had a profound impact on the entire world, so when I see "no achievements matter" it gives me pause.
I don't doubt that the majority of people want kids. I imagine that at some point hormones will kick in that make me want to, but it hasn't happened. So, the idea of having children is awful, as far as I'm concerned. Yet I am told again and again that "one you look into their eyes...". What if you're wrong, though? Having a child is a one-way street, I'd hate to have one and then realise I don't have the same satisfaction about it that others do.
Opportunity cost cuts both ways. Parents would say that nonparents don't know what they are missing, but the opposite is true as well. I know couples who decided against kids, who have had amazing experiences together that they could not have otherwise managed or afforded. You might believe that those experiences can't compare to being a parent, but without experiencing them yourself, how can you really know?
I've found it's a good idea to avoid thinking too hard at the level you're taking.
expecting a child in 2 months. i'll see how that will affect my view on the world ^_^
Variety is the spice of life. We do things that we find intellectually and emotionally stimulating.
Rationally there is no point in having children at all.
"Contrary to recent scholarship and popular belief, parents experience greater levels of happiness and meaning in life than people without children, according to researchers from the University of California, Riverside, the University of British Columbia and Stanford University. Parents also are happier during the day when they are caring for their children than during their other daily activities, the researchers found in a series of studies conducted in the United States and Canada. [...] The findings are among a new wave of research that suggests that parenthood comes with relatively more positives, despite the added responsibilities. [...] The consistency of their findings across all three studies 'provides strong evidence challenging the widely held perception that children are associated with reduced well-being.'" [1]
These findings are from this paper, entitled In Defense of Parenthood: Children Are Associated With More Joy Than Misery [2], to be published in Psychological Science. [3]
From the abstract, "The results indicate that, contrary to previous reports, parents (and especially fathers) report relatively higher levels of happiness, positive emotion, and meaning in life."
[1] http://www.psychologicalscience.org/index.php/news/releases/...
[2] (Note: PDF) http://www.faculty.ucr.edu/~sonja/papers/NKEDLinpress.pdf
[3] https://en.wikipedia.org/wiki/Psychological_Science_%28journ...
Nonsense. When used as service animals, children have several advantages over the alternatives. They can be trained to do much more than dogs, for example, have a longer service life, and when they get too big to keep safely they yield more meat after first training their successors for you.
[citation needed]
Also, since we're being rational and all, define happiness. Contrast it with "fulfillment".
Short version: Basically, the evidence is to the contrary. Parents are "more happy."
None of which really matters, of course. If you want kids you'll probably love having them, and if you don't you'll probably be happier without them.
Nothing ever is, but the GP asked for a citation, and I provided one, and a short version for those in a rush.
What does that even mean?
Is it "rational" to stay alive? (isn't it only "worth it" because your genes order you not to kill yourself?)
...
> Children, however, afford no such privilege.
Well, at least you're 50% there. Don't compromise with your wife, either.
Lead your wife and children to a better place. Lead them to a place where all of you are happy and yes, it is possible. It's very easy to "compromise" ... just divide by two, right? Much harder to use your noggin and figure out a position where everybody is genuinely happy. You can compromise with your business partners or whoever else is largely irrelevant. With your family, spend the few extra calories, burn the oil, and figure out a path toward making everyone optimally happy.
Lead them there.
You should lead them there.
> a position where everybody is genuinely happy.
It's not about splitting 50/50. People equate meeting someone half way with splitting things 50/50. That's far from it.
So, what you say is true. It's what I was saying, just with more words. =)
Now, please don't come back and be one of those people that argue semantics. I meant what I said, I said what I meant, and there was just some confusion. Hopefully, it's clearer now.
As I am an extreme introvert, in the near-term, having kids definitely makes me less happy in many measurable ways.
That being said, taking care of children is something I have always been drawn to, and is the way I have chosen to leave my mark on the world, as it were.
We fostered our first two kids for 18 months before we were offered the opportunity to adopt them, so I was in the situation of being able to choose to go back to having no kids in a socially acceptable manner, which is not an opportunity most people get.
I'm going to make the obvious comparison here to starting a company (which I haven't done but am inferring from the numerous articles I've read on it). It's not for everyone, it's a lot of work, and at times you will think you were crazy for ever attempting it. However, for a certain type of person, it's extremely rewarding.
Just like not everyone would be happier if they quit their job and started a company, not everyone would be happier if they became a parent, but if it's something you are drawn to, then by all means, do it!
I never meant to imply anything was so cut and dry. Apologies for making it seem so. I just wanted to point out something people should learn from this post. No one should have children because they feel as if they are expected to. They really need to understand what kind of commitment it entails.
No, marriage is having one heck of a good time living your life with your spouse.
Being a single parent is better than a bad marriage. And marriage can only be good if the parents know and acknowledge that they together go first, kids come second. Period.
Your spouse is the person you spend rest of your life (or at least decades, if you're lucky) and if you give up too much of that for the kids, you won't necessarily have a relationship once the kids move out in twenty years or so.
It's not my intention to lure you into thinking that parents should do whatever they need to do and mostly ignore the kids. (A whole lot of good people have been raised that way over the centuries, though.) However, nobody promised the kids a rose garden and neither did anyone promise the same to you.
It's just those times in life when there's too much everything and good times are sparse. That is when you need to take care of yourself first, because that's a prerequisite for a relationship. Then you need to take care of your relationship because that's a prerequisite for a working family of two parents and one or more kids. When the relationship is all right, then you can truly take care of the kids too, not just mechanically play a role for a decade while getting more and more bitter every year.
Most of the time you do all three—yourself, your relationship, your kids—but you must know which comes first in the tight spot. It's like oxygen masks on the plane.
After all, your kids will first try to learn how to live and be happy by mimicking how you live your own life.
You don't ever own your kids' lives and you won't even have much control over theirs for more than the 10-15 early years.
So be sure you take care of yourself and your marriage because that's what makes you happy for a long time, in your own life.
Eye-opener for me. This is very true, and a harsh truth at that.
You made me finally understand what broke my parents' relationship. One of them focused on children, with "at all costs" mindset. And the cost was great indeed.
> and you won't even have much control over theirs for more than the 10-15 early years.
That much just as well.
Parents' first responsibility should be to their children, who didn't choose to be born (that was the parents' choice) and haven't yet learned the important lessons in life - such as how to care for others. It's not about controlling so much as guiding.
Selfish behaviour begets selfish children.
First: Are you married now (or have you been) and do you have kids? I'll assume you are married/committed but I'm not sure you are a parent, given your views. This is a tremendously important point to help frame this discussion. I fear you probably won't understand my points at all with out first hand experience.
What you are saying isn't technically wrong, but it requires precise compromise in order to be successful. That's exactly what jasonlotito is saying: You can't get what you want all the time, especially with your partner, most certainly with your children.
You and your partner need to understand, respect, and tolerate each other, first and foremost. Some people are simply incapable of doing this, period. Some people conflate this with making their life completely about the other person. Both of these people will be miserable regardless. For the rest of us though, simply understanding that statement means the marriage is a compromise - sometimes you get your way and your partner tolerates, sometimes you tolerate and your partner gets to do their thing, most often you are both getting your ways, as they are the same, but sometimes both of you are tolerating, for the good of the family/marriage.
Of course, with children, that last point becomes a vast majority of your life. Kids are the centre of their worlds and don't really understand how to be anything else. It takes literally years to impact the knowledge that life is better when they look outwards towards others into their little heads. Until then, you and your partner will do a lot of tolerating in your lives. How well you can do this (and when not to) will pretty much define how successful a parent you will be. It's an approach governed by the exact opposite thoughts that you are presenting however: Child first, couple second, self last.
Be clear than I'm not suggesting your entire life should be one of self-sacrifice, That doesn't work either. But it must be the last of your concerns 90% of the time if you are to make raising kids and marriage - especially marriage - work. Ensure the kids are alright (not necessarily that they get their way all the time), ensure your spouse is alright (happy wife, happy life after all) and ensure you are alright in that order, and you have a winning formula.
Looking out for yourself first is a guaranteed path to conflict. It's very rare that you can do this and remain in sync with other people, even best friends and spouses aren't going to want to do the same things all the time. Your children will never want to do the same things as you in any consistent fashion, which is way most happy family spend time in parks during the day as opposed to bars late at night.
PS: Describing Marriage as a Nash Equilibrium is probably a better description for HN.
If you take a look at modern societies, such as the US, you'll notice that people are more and more disconnected from their families and their place of birth and their culture. Good friends and big families are increasingly rare occurrences. Incidentally this is why people give birth to fewer and fewer children: because they've got no family to rely on.
And really, life is hard and hollow that way.
Putting yourself first does not necessarily make you happier, while compromises done for the good of your family can make you happier in the long term ... not much different than how abstaining from sweets and soda will make you healthier and thinner. Really, don't be a self-centered jerk, as you'll regret it in the end.
Times have changed. Marriage used to be about survival, and that requires a forever committal. These days everyone can survive by himself but marriage is a vehicle for learning and growing in your life through intimately living with someone. Some marriages still last but many break down because either one of the spouses has learned something and moves on in his or her life. The other one doesn't so they don't sing the same song anymore, and there's nothing they can serve really by staying together anymore.
Fair enough. I'm married, second time now. I have two kids. They're around 9-10 years old now so obviously I don't know everything yet, there's another decade to be seen.
This is a tremendously important point to help frame this discussion. I fear you probably won't understand my points at all with out first hand experience.
I tried to guard my post against extreme interpretations but nothing works out perfectly. I did follow up to the original poster, though, for some clarifications. You might want to read that.
I don't fully agree with what you wrote, though. For example, "Ensure the kids are alright (not necessarily that they get their way all the time), ensure your spouse is alright (happy wife, happy life after all) and ensure you are alright in that order, and you have a winning formula." is correct but in my view it goes in the exactly opposite order.
It might be just me but I see awfully many people who put everything else first and theirselves last. And they're bitter, resentful, exhausted, tired, and generally just giving the impression of asking the world go fuck themselves. They might momentarily glow in selfish proudness for doing so much for others but that doesn't last long when they figure out they're left with nothing much to themselves. Then they become martyrs and start fishing for attention, care, and attendance that they could've just provided themselves originally.
Maybe there are people who can just give and give, and think for other people first and genuinely be happy and energetic. I don't know. I've seen many who seem like that but a closer discussion with them reveals some leaks in their identity. Things that aren't working and things that they're not willing to face themselves.
I have a surprisingly good marriage; I'm not always so sure what I've done to deserve one but I can certainly attribute part of it to myself taking care of myself. There are times I have to ignore my wife's needs so that I can attend to them most of the other time. I first ensure I'm well-rested and happy myself before I do things with my kids because only then I can be relaxed and happy spending time with them, too. Otherwise I'll just be frustrated and unhappy and it always shows, and I don't want to give my kids the impression I have to force myself being with them. And there are times we want to do things together with my wife and tell the kids to just find something to do themselves, even if it wasn't exactly the best time to do that. Or if my wife needs me more badly than my kids (who, categorically, always need me if I only give them), then I'll just tell them that I'll be with my wife now as she needs me, and we will listen to the kids too again, but only later.
Only when we feel we're together again with my wife we can actually give something to the kids. And only when I'm whole I can actually give something to her, too.
> you won't necessarily have a relationship once the kids move out in twenty years or so.
Right here is the problem. You assume a healthy child, one that is capable of living on their own. But you have a responsibility to that child if they can't.
This doesn't mean you give up your dreams. This doesn't mean an end to your life. But it means taking care of your children. It's your responsibility.
I can't just ignore my child's care and go on a long vacation with the wife. Oh, I mean, I could, but that would be tantamount to child abuse. I need to make sure he's cared for, appropriately, or adjust my vacation to accomodate his needs.
> You don't ever own your kids' lives and you won't even have much control over theirs for more than the 10-15 early years.
This is why you can't just quote a part of the comment, and take it out of context. I'm faced with the very real possibility that I'll be responsible for my son's life for much longer than that. You can't just make assumptions like you are.
So no, you are wrong. Wrong, because you make some obviously wrong assumptions that simply don't hold up to any amount of scrutiny. I think your intent is honest, but frankly, you're trying to argue a point that is, frankly, pointless.
Edit: I do want to point out though, that neglecting your marriage isn't good either. So, please dont' think I'm suggesting that by putting children first, you aren't leaving room for your spouse.
Now, your situation is exceptional and something like that can't be assumed when speaking generally. It's similar to your spouse getting seriously ill. From being a husband or a parent it turns a relationship or a parenthood partly into a special case of taking full-time care of a very ill person. So in that case we're not strictly talking about only parenthood anymore. It's partly patient care, not just parenthood.
However, I think I still carry the same opinion: taking care of yourself first is especially important in a situation like yours where you might have to take care of someone into his adulthood.
A person can only give as much as he's been able to receive himself. If you don't put yourself first ever then eventually you imperatively have no chance of giving anything to your son or anyone else in the long run. (You might be able to trick it for years in the beginning, though.) It's like you have to stop to fill up the gas tank while driving a long distance. Otherwise you just can't do it at all.
I also want to point out that I was not advocating taking a long vacation with your wife just like that: putting yourself or your relationship first doesn't mean leaving your kids in abandon. (Or maybe, naively, for some people, it means just that but it wasn't what I was thinking.) I did write that parents can't just do whatever they feel they need to do and ignore the kids. I'll try to reiterate my viewpoint.
What I mean by putting yourself or your marriage first is that in the worst cases, you do just that, but only in the worst case. If it's not the worst case you will have some energy left for others, too.
For example, if you're truly out of the game, you must be able to say to your wife "Honey, now I just can not do this anymore. I need a weekend alone at the cottage or with my friends or I'll just simply go mad somehow and I don't have anything left for myself or our marriage. I'm sorry I can't be more flexible now and you'll have to take care of all things but I'm so out of everything now that I just can't. I'll be back—but not today."
Or if you're exhausted with your kids, you're going to have to be able to say: "Listen guys, we're so worn out of everything that we're going to have to postpone the beach trip we planned with you and instead send you off to your grandparents for the weekend. You see, we need some adult time alone with your mother so that we'll have time to enjoy ourselves too instead of always working and taking care of others. If we didn't do that, we'd become quite uptight and just plain angry at everything, and you wouldn't like that either. So, we're going to have to take you out to the beach sometime later and you're going to go visit your grandparents for the weekend."
Of course you have the responsibility for your kids and you can't drop that. But kids can survive a night without a proper meal. They will live even if they don't have clean clothes for few days. And they can't always enjoy the privilege of your full presence. Doing such things repeatedly would be detrimental to their childhood but in the worst case it's better for them to suffer little than see their parents gradually losing their grasp on life.
That's a terribly sad outlook. Your children are extensions of yourself. They should come first forever. They're not pets that you just take in and look after. They're your babies...
I don't know if you have kids or not, maybe you don't have very strong parental feelings :/
Having parents who are burnt out, resentful martyrs does not help a kid.
NOTE: This does not mean it is ok to abandon a child to the wolves, and it's not meant to justify mistreatment of special needs children. If a child has special needs, it will obviously place a much higher burden on the parents.
There isn't anything about that that I disagree with, nor is there anything about that that suggests you are putting your children second.
Indeed, quite the opposite, in fact.
Completely agree. But that as you say is not putting the kids first.
Putting the kids first means that you will leave them to throw tantrums when you need to, or leave them with someone else so they develop in that way.
Giving kids what they want != putting them first.
Related to that, understand that marriage is (generally) with someone who had a choice in the matter. If your spouse is not happy with some aspect of you that was reasonably discoverable before they married you, they can request that you change but have no right to expect you to.
For instance, if they know going into the marriage that you a workaholic who places the success of your business above doing "people" things, and they are going to have a problem being married to someone who only will have time for "couple" things maybe one night a month, then they should have declined to enter into the marriage.
Kids, on the other hand, have no choice. You made them, they are your responsibility, and if that means you have to limit your work to around 40 hours a week and do that on a regular schedule so you can be there to tend to them, play with them, entertain them, teach them, go to their school plays, and so on, that's what you have to do. As jasonlotito notes, your concerns now come second.
As a father with a son with severe autism, and remembering the time before you were a father, do you think that anybody can imagine what it's like?
I have a healthy daughter (16 months old), and that alone changed my live beyond anything I could have imagined before.
I don't want to belittle anybody's imagination, but in my experience imagination only works well for envisioning things happening to you in short time scales.
Oh, no. Of course not. But they should consider the possibility. You cannot assume that it's going to be 18-20 years and they are on their own. That it's diapers for only a couple years and then you don't have to change them.
No, there is no way they can fully grasp what it means. But they can't just assume everything will be fine. My wife and I did this, and we waited, and prepared, and we had kids once we were ready. Really ready, and I'd like to think it shows in our children, in our marriage, and in our lives. No, we weren't ready for autism, but we did understand that things could go wrong.
So yes, you are right. But it still can't hurt to think about it. Really think about it. More than what some people do.
The author states with authority that he is the father, but doesn't mention the tests confirming it whereas every other finding is linked to the tests involved.
Please don't tell me, in an article praising science, that this was left to faith or trust or whatever.
And yes I read the article and no I am not so foolish as to believe that there is only one possible cause for every result.
A caring parent wouldn't keep such a thing secret when its causing (continued) suffering for their child. I'm sure there are psychopaths out there where this is not true, but given that they are married, a judgement call is acceptable in my view - even if not ideal.
Wouldn't you agree?
You've gone soft, HN.
How about downvoted for not reading the article?
And, to be clear, I never doubted for one second that he was mine.
I am not claiming there are zero short term benefits to be had. I am only claiming there is a long term cost and I deem it to be too high since there is no known means to reverse silver poisoning. My genetic disorder is deemed to be degenerative and fatal. I have reversed a lot of the symptoms, gotten off eight prescription drugs and gotten my life back. I recommend against colloidal silver any time anyone asks me. I am clear the build up of poisons in the body is why my condition is degenerative.
Paranoid delusions are some of the first signs of a serious underlying mental problem.
Doctors are generally quite receptive to non-drug therapies that actually work.
You are probably being downvoted because you are giving potentially life-threateningly bad advice, not because "they" are trying to bury your post.
sevenstar 14 hours ago | link [dead]
Give it up... what is your problem? Plain English... not
banned. Stop lying, then read the link, please... (
http://www.naturalnews.com/010038.html )
I'm going to do what you haven't thus far, and provide hard evidence of my claims.
Point of evidence #1: the quoted post above, complete with "[dead]" at the end.
Point of evidence #2: this image, showing your [dead] posts: http://imgur.com/2Fkm6
Point of evidence #3: background information related to the art of the hellban: https://en.wikipedia.org/wiki/Hellbanning
Now, for your link, and the sort of hard evidence you would need to provide: I read through it and found the typical structure of an article promoting something unscientific to an uninformed audience. There's a bit of historic background provided to give an air of authority and authenticity, followed by non-sequiturs (e.g. the safety of topical silver use does not logically imply that silver is safe to ingest). Finally, there are scattered quotes from various people with abbreviations after their names. That is not how a rigorous scientific process works.
In science, reputation and storytelling are irrelevant -- only the double-blind studied, independently reproduced data truly matters. Reputation is merely an indicator of those scientists who are known to have conducted scientifically sound experiments in the past.
Absent the results from clinical trials (or at least a solid argument from biological first principles) showing 1. why it's okay to put silver in your body where it will never, ever leave and 2. why silver is better than antibiotics that the body will actually metabolize, telling people to ingest it is scarcely different from telling people to ingest any other poison.
Now, I'm giving you some very easy and entertaining homework. Your assignment is to read The Relativity of Wrong (http://chem.tufts.edu/AnswersInScience/RelativityofWrong.htm), a nonfiction story I discovered here on HN a long time ago, that serves as an excellent introduction to how science really works (and thus the laws of the universe).
I will no longer be following this thread, so I bid you good luck and farewell.