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Hunting down my son's killer
May 29, 2012 7:52 PM   Subscribe

Matt Might, computer science professor, has a son with a new genetic condition. This is the story of how they figured this out. Matt Might, perhaps best known for the illustrated guide to a PhD, tells the wrenching tale of their son's terrible medical condition and how they've worked to figure out what is going on with him.
posted by k8t (38 comments total) 29 users marked this as a favorite

 
Looks like they've been blogging his life as well.
posted by k8t at 7:58 PM on May 29, 2012 [1 favorite]


Site looks like it's pretty slow from getting hammered by other sites.

Google cache of the story of hunting his son's killer

Google cache of the guide to a PhD
posted by mathowie at 8:00 PM on May 29, 2012


FWIW, the blog I linked in the comments is quite tear-jerking, while Matt's blog is much more clinical.
posted by k8t at 8:06 PM on May 29, 2012


Dreadful, in its most literal sense. And grim. Those parents are some tough bastards, and I salute them.
posted by Diablevert at 8:22 PM on May 29, 2012 [1 favorite]


This reminds me of another story, one that I believe was made into a moving (and educational for biologists/chemists) film: Lorenzo's Oil
posted by Slackermagee at 8:26 PM on May 29, 2012 [2 favorites]


That poor baby. It's too much for all to go through.
posted by discopolo at 8:31 PM on May 29, 2012


Was just about to mention Lorenzo's Oil as well.
posted by flippant at 8:39 PM on May 29, 2012


Just lovely to see in the twitter feed on the blog that people are commenting there and telling him to euthanize his child and calling them egotistical for having another child. The internet is always classy.
posted by kanata at 8:57 PM on May 29, 2012


Horrifying and fascinating. The first link is also a great intro to genetics and genetic diseases.
posted by en forme de poire at 9:01 PM on May 29, 2012


Part of me wonders if the humane thing would have been for them to allow their child to die.
posted by timsneezed at 9:08 PM on May 29, 2012 [3 favorites]


A terrible story, but I found myself increasingly distracted the formatting as I went through.

Every sentence is on a different line.

Sometimes just fragments.

It's a bit wearying.

And in my head it made the story sound halting, like a bad Shatner impression.
posted by barnacles at 9:13 PM on May 29, 2012 [1 favorite]


Also, it seems incredibly selfish to me that they had another child before understanding the genetic origin of their son's disorder and the risk that another child would inherit it.
posted by timsneezed at 9:21 PM on May 29, 2012 [5 favorites]


Exome sequencing is getting fairly affordable (at least, it's likely more affordable now than the panopoly of tests their poor son was subjected to). 23andMe was starting a pilot program to do 80x coverage for a thousand bucks a while ago, but you might need more reads to have confidence in most of the calls, and the program didn't include any bioinformatics support, just a big blob of raw reads. Give it a year or two and the cost should be down to around $1k for a decent exome sequence. This will be a great alternative to many of the existing tests for genetic disorders, which usually cost more than a thousand for one test if insurance doesn't cover it (e.g. BRCA1 for breast cancer @ $3000 a pop).

I'd definitely look into it for any family member that is suspected of a genetic disorder. You might sink $50k into non-covered tests before a $1k exome sequence definitively nails down what the mutation is. There are still some mutations in noncoding areas that may cause disease, but they are pretty rare and not worth the increased cost in doing a full genome sequence - for now. Soon enough whole genome sequencing will be cheap enough that exome sequencing will bite the dust.
posted by benzenedream at 9:27 PM on May 29, 2012 [1 favorite]


I liked the formatting and the terseness.

Combined with the bare, matter-of-fact way of relating a desperate situation, it reminded me of Vonnegut.
posted by tss at 9:32 PM on May 29, 2012 [2 favorites]


Yeah when he got to the part about the possibility of injecting the kid with genes, I'm like.. "christ let the poor kid die with dignity!"
posted by ReeMonster at 9:36 PM on May 29, 2012


If (gods please forbid) something like this were to happen to one of my kids, I would move heaven and earth to chase down every lead, employ every resource, and spend every last dollar I had available to me to save my son. This is what any parent would do, there is no choice in the matter. It may or may not be humane or delusional to do so, but the loving parent of the child has virtually no other alternative.

This kind of thing happens more often than one might think, it's just usually written off as cerebral palsy, or unspecified developmental delay. It's remarkable that they were able to figure out so much about what happened to their kid. What happened is a tragic and necessary part of DNA-based sexual reproduction. Most random mutations make us less fit.

Evolution is a bitch.
posted by Slarty Bartfast at 9:48 PM on May 29, 2012 [10 favorites]


I remember watching Lorenzo's Oil in biology class. I was profoundly disturbed by it. I cried for hours.

This reminds me a lot of it, but I'm hoping that things will get better with the n-glycanase synthesis.
posted by subversiveasset at 10:15 PM on May 29, 2012


Also, it seems incredibly selfish to me that they had another child before understanding the genetic origin of their son's disorder and the risk that another child would inherit it.

Not to me. I mean, it might be selfish, but I absolutely 100% understand why they made this choice. Sometimes when all you have left is hope, hope needs to be enough.

If (gods please forbid) something like this were to happen to one of my kids, I would move heaven and earth to chase down every lead, employ every resource, and spend every last dollar I had available to me to save my son. This is what any parent would do, there is no choice in the matter. It may or may not be humane or delusional to do so, but the loving parent of the child has virtually no other alternative.

Yup.
posted by KathrynT at 10:34 PM on May 29, 2012 [1 favorite]


Also, it seems incredibly selfish to me that they had another child before understanding the genetic origin of their son's disorder and the risk that another child would inherit it.

They didn't seem to know it was caused by genetic mutation for some time, let alone be caused by an autosomal recessive mutation passed on from the parents. It took years of diagnostic tests and analyses before the cause was found. I don't see how they could have known ahead of time with enough certainty to know that this was a risk.
posted by Blazecock Pileon at 10:46 PM on May 29, 2012 [2 favorites]


kanata: "Just lovely to see in the twitter feed on the blog that people are commenting there and telling him to euthanize his child and calling them egotistical for having another child. The internet is always classy."

timsneezed: "Also, it seems incredibly selfish to me that they had another child before understanding the genetic origin of their son's disorder and the risk that another child would inherit it."
posted by IAmBroom at 10:58 PM on May 29, 2012 [3 favorites]


I respect the love that these parents have for their sick child, and their efforts have pushed the understanding of human genetics forward by a small but measurable increment.

However, I cry for the millions of children born into this world who die terrible deaths of starvation, violence, or easily preventable disease.

Each family who loses a child has a story as intimate and personal as this one. The problem is that most of those stories are untold or unheard. If this child were not the son of well-connected parents, with a case interesting enough to promote the careers of their doctors, and arrangements to make health care costs non-bankrupting, none of us would have read this story. What will it take to generate such sympathy for less privileged but equally deserving families?
posted by SakuraK at 11:21 PM on May 29, 2012 [6 favorites]


The author says that, given the best available knowledge that they had at the time, a single de novo mutation was much much more likely than what ended up being the case, that both parents had a mutation in the same gene and that their son was in the quarter of their potential progeny that would get the double hit.

This really is a strikingly rare event, even in the context of rare disease, but at least it left a smoking gun for causality. I wish them the best, even with this clue and the huge head start of somebody synthesizing the protein at extremely low cost, it could be a long road ahead of them to try to turn it into a treatment.
posted by Llama-Lime at 11:22 PM on May 29, 2012 [1 favorite]


They didn't seem to know it was caused by genetic mutation for some time, let alone be caused by an autosomal recessive mutation passed on from the parents. It took years of diagnostic tests and analyses before the cause was found. I don't see how they could have known ahead of time with enough certainty to know that this was a risk.

It stands to reason that if a child is born with a severe congenital disease there are at least decent chances it was caused by an inherited gene. Given that they had no idea what the cause of their child's disorder was, it seems really foolish to put another baby at risk for a horrific life.

I sort of wonder if they didn't wait until they knew more because they were worried if they found out they both carried a bad gene, they wouldn't be able to ethically justify having another child. Their rationalization for having the second child so soon seemed really flimsy to me -- they decided between themselves that the kid must have a new genetic mutation that neither of them had so it was OK.

While their decision may be understandable, I stand by my opinion that it was very selfish.
posted by timsneezed at 11:25 PM on May 29, 2012 [1 favorite]


If humans never procreated for selfish reasons, I'd reckon there'd be a lot fewer of us here today.
posted by scrowdid at 11:34 PM on May 29, 2012 [5 favorites]


It stands to reason that if a child is born with a severe congenital disease there are at least decent chances it was caused by an inherited gene.

I'm reading the link again, and I don't see how the parents would have had enough information to make that determination. Hereditary defects are pretty rare, while environmental exposure to teratogens or just simple bad luck in meiosis could have just as well been causal (if not more likely).

This is especially true, as one generally goes with the most probable explanations for things and whittles away. If the most likely inheritable candidate (A-T) comes up false, why would parents with no significant ancestral relationship assume that they could be so unlucky as to happen to pass on the same recessive genes? The odds of that happening would have had to already be so low as to make the risk of having another child with the same disorder accordingly low.

Having a child is a crapshoot, anyway. A fifth of fertilized eggs never make it to term. With those odds, and the mental and physical stress on the mother from a potential miscarriage, I don't envy parents for having to decide whether to try having kids.
posted by Blazecock Pileon at 12:15 AM on May 30, 2012 [1 favorite]


While their decision may be understandable, I stand by my opinion that it was very selfish.

But you'll never have to make that decision, eh? Seems odd to call it selfish then.
posted by Avenger50 at 1:27 AM on May 30, 2012


Parents - years of investigation, consultation with the best medical and research minds available, a long, painful journey touching on the most important thing in their world, trying to do the best for all

Internet - reads story in five minutes, judges parents as wrong
posted by Devonian at 1:47 AM on May 30, 2012 [19 favorites]


Nice to see a good solid contingent of Eugenicists here on Metafilter.

It sort of helps put it into perspective how easy it is to casually slide into being evil by being what you feel is compassionate and reasonable with regard to what others should and shouldn't do.
posted by srboisvert at 2:12 AM on May 30, 2012 [7 favorites]


Enough of the privilege bullshit. It crops up in the comments of every FPP dealing with someone from the middle class doing something out of the ordinary, and it's an ill considered and stupid shorthand for "I'm jealous and resentful" rather than "I'm conscious of class issues in society."

Unpack your own damn backpack. It's rude to rummage around in someone else's, especially a dying child.
posted by Slap*Happy at 2:49 AM on May 30, 2012 [15 favorites]


As a sufferer of Leiber's Congenital Amaurosis, I'm ambivalent about the issue of whether the parents should have had another child. My condition isn't nearly as debilitating, but I do feel it would have been prudent for them to at least give it some time before having another child. The lack of information is good enough justification to me for holding off. Just because they didn't know for certain whether their genetics were responsible for the condition doesn't mean they should have ruled it out either. Let's not get hyperbolic and call people eugeniticists for recommending caution and thoughtfulness here. What about that other child who will not only forever be in her brother's shadow, but who will also be dragged through a situation she never asked to be a part of to begin with? I don't think it's a stretch to call myself uniquely qualified to discuss this issue.

My hopes and best wishes extend to a family going through what is undoubtedly a trying and befuddling time. They've shown great perseverance in light of a horrible situation and regardless of my or anyone else's feelings about their reproductive choices, that much is morally unassailable. Best of luck to them and their son.
posted by Ephelump Jockey at 3:17 AM on May 30, 2012 [2 favorites]


Not to me. I mean, it might be selfish, but I absolutely 100% understand why they made this choice. Sometimes when all you have left is hope, hope needs to be enough.

Hope was the last horror to emerge from Pandora's box.
posted by localroger at 5:40 AM on May 30, 2012 [7 favorites]


It sort of helps put it into perspective how easy it is to casually slide into being evil by being what you feel is compassionate and reasonable with regard to what others should and shouldn't do.

Wow. Just wow. False equivalency of the year already and we're only up to May.
posted by Talez at 6:26 AM on May 30, 2012


This is the sort of situation in which any choice you make as a parent is going to be the wrong choice. None of us really know what we would do or what the right choices would be unless we're in the same situation and even then we can't be certain the right choices for us and our child are the same as for them and theirs.
posted by MartinWisse at 6:54 AM on May 30, 2012


It stands to reason that if a child is born with a severe congenital disease there are at least decent chances it was caused by an inherited gene. Given that they had no idea what the cause of their child's disorder was, it seems really foolish to put another baby at risk for a horrific life.

I sort of wonder if they didn't wait until they knew more because they were worried if they found out they both carried a bad gene, they wouldn't be able to ethically justify having another child. Their rationalization for having the second child so soon seemed really flimsy to me -- they decided between themselves that the kid must have a new genetic mutation that neither of them had so it was OK.

While their decision may be understandable, I stand by my opinion that it was very selfish.


This is what the father said on Hacker News in response to a similar comment:
When we decided to have a second child, we'd ruled out every existing disorder that could possibly explain him.

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.
posted by dfan at 7:52 AM on May 30, 2012 [3 favorites]


Seriously? The parents spend years in a monumental struggle to understand their son's unique condition, baffling expert after expert, and we're judging them because they didn't wait long enough to have another baby? Just ... don't.

(The risk of significant genetic anomalies rises with the mother's age (common knowledge) and the father's age as well. I don't think people appreciate how fast the risk increases - Down's syndrome goes from ~0.1% at a maternal age of 30 to ~1% at age 40. That's just one syndrome, out of hundreds of possibilities.)
posted by RedOrGreen at 7:57 AM on May 30, 2012 [1 favorite]


What will it take to generate such sympathy for less privileged but equally deserving families?

For there not to be millions of them. Stalin was right, you know. You can't erase the monkey in your head, and to the monkey 1 will always matter more than 1,000,000. That you can read these people's story and begrudge them the few drops of sympathy they have wrung out of us --- the only tribute we may offer them, that pittance --- seems to me callousness cloaked in sanctimony. The world is full of terrible things, and not enough of them cared for. Compassion is a blessed gift wherever bestowed, and not wasted unless given solely to the least among us.
posted by Diablevert at 8:26 AM on May 30, 2012 [3 favorites]


I work with NGS data (though, not in human genetics), and I always find it exciting when I see the science actually making in impact "on the ground" as it were. The paper linked to in the blog is a fascinating read of how detailed science has become.

But man, what a blow to get to the end of the story. Bertrand's mutations affect the most basic of cellular function (even someone with a non-human biology background like me knows what most of the words mean). He's so young; I can see why his parents would want to go all out for the treatments. Young people have the most to benefit from new research. They are pushing the boundaries of the known, but if that's where you are, where you are the only known person on the planet with this disease, what else can you do?
posted by bluefly at 9:58 AM on May 30, 2012


Bless them and hold his spark tenderly, Universe.

I cannot even imagine.

It seems the gratitude I would feel for having the resources to go so far down the path of discovery would be permanently skewed by the heartbreaking realities continuously presented.
posted by batmonkey at 10:23 AM on May 30, 2012 [1 favorite]


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