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Hunting Down My Son's Killer

matt.might.net

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Re: Hunting Down My Son's Killer

#201

Post by Mz »

danparsonson wrote: post #198
Mz wrote: post #119

This is incredibly long and seems like it will probably never tell me the info that interests me. As I understand it, in most genetic disorders, all of the problems are rooted in a miscoded protein. I am wondering if it has been determined which protein is miscoded and what it does? 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…

Different proteins for different disorders - from what you wrote it seems like you read it as one particular protein that's commonly implicated in many different disorders? 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.

Sorry I wasn't clear. I am currently looking at info on NGLY1 and trying to parse out its exact function in order to try to understand the commonalities this seems to have with my condition. "Lacks x enzyme" doesn't give me a picture of what functions are missing. I am not a medical professional. I need laymen's explanations of specific functionality, which are quite hard to come by.

Thanks for replying.

Re: Hunting Down My Son's Killer

#202

Post by mattmight »

rickyconnolly wrote: post #151

I have a question for Matt, if you are still here. How did you get in touch with Genzyme? What do they have to gain by helping you? Developing a recombinant therapeutic drug is an exceedingly expensive and technically-difficult undertaking. Why are they developing a treatment for a condition for which the potential market size is one single patient?

We're contacting Genzyme via friends of friends.

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.

Re: Hunting Down My Son's Killer

#203

Post by run4yourlives »

tomjen3 wrote: post #58
alain94040 wrote: post #33

Earlier quoted context omitted.

Ha. Can't wait for your [future] kids to discover your post on HN, 15 years from now, and give you a hard time about it.

Whow, are you arrogant. Can you even contemplate somebody who doesn't want to have children?

I think his (somewhat mangled) point is that pretty much everyone in their early 20's doesn't want to have kids, yet most people in their 30's are at least open to the idea.

He's basically playing the odds, but like I said, mangled his comment.

Re: Hunting Down My Son's Killer

#204

Post by gcheong »

run4yourlives wrote: post #197
mibbitier wrote: post #195

Earlier quoted context omitted.

You shouldn't. If you don't feel the overwhelming need to have children, you probably shouldn't. 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...

There are a few people that regret being parents. The funny thing is that if you talk to them you'll find that they've become parents because they though it's something the should do, and not something they wanted to do.

Yes, exactly - and where did this idea that they should have kids come from? What I'm saying is that people need a balanced perspective when deciding and all too often it is the "everyone should have kids" voice that is only heard and anyone that states anything to the contrary is summarily dismissed or berated. That is changing, albeit slowly but I will also be the first to say that at the end of the day if decide you want kids then go for it.

Re: Hunting Down My Son's Killer

#205

Post by gcheong »

run4yourlives wrote: post #186
gcheong wrote: post #167

Earlier quoted context omitted.

"That is what parenthood does to you." 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…

>than your espousing of supposed absolute truth. 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…

I do have a personal issue with people saying kids are absolutely the best thing one can do with one's life or the best experience one can have in one's life and therefore also implying that everyone should have them. So if I mistook your statement as one of unqualified pro-natalism then I apologize. Ovaries in a knot? Lol. I'm a man so society readily accepts, even applauds in some cases, my desire to not have kids though your statement is telling of the vitriol women in our society face who have decided not to have kids.

Re: Hunting Down My Son's Killer

#206

Post by shpoonj »

shpoonj wrote: post #141

So there was a paternity test, right? I'm assuming there was and it just wasn't mentioned in the write up. 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.

Downvoted for asking for evidence of claims... Claims that the author admits many of the professionals he trusted enough to ask for guidance also raised.

You've gone soft, HN.

Re: Hunting Down My Son's Killer

#207

Post by ricardobeat »

btilly wrote: post #183
CWuestefeld wrote: post #165

Earlier quoted context omitted.

I think I know what you're trying to say: that it's not hard for us to learn some facts, but they're less useful without a broader knowledge of human physiology that an MD would be presumed to have, and we don't. And there's certainly truth to that. 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'…

Just curious. Have you tried Helmetic therapy? 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.

Apparently the correct term is helminthic therapy. Interesting.

Re: Hunting Down My Son's Killer

#208

Post by snowwrestler »

mibbitier wrote: post #173
yason wrote: post #63

Earlier quoted context omitted.

Marriage is about compromise. Children, however, afford no such privilege. 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 luc…

> "And marriage can only be good if the parents know and acknowledge that they together go first, kids come second. Period." 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 :/

I think the GP means things like it's ok to leave a 4 year old throwing a temper tantrum with a baby sitter while heading out for date night. Doing such a thing won't hurt the kid at all, but will do wonders for maintaining a healthy happy marriage.

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.

Re: Hunting Down My Son's Killer

#209

Post by CamperBob2 »

maratd wrote: post #75
jonmb wrote: post #49

Earlier quoted context omitted.

Agreed. Saying children are not worth it is an extreme position, but saying that life is pointless without children is perhaps even more extreme. It's like saying life is pointless without a wife, or without God.

The point of all life is to reproduce. It's one of the qualifications to be considered alive. So yeah, without children, life literally loses its meaning =)

The point of all life is to exhibit localized temporary reductions in entropy. Everything beyond that is some stuff you made up.

Re: Hunting Down My Son's Killer

#210

Post by mattmight »

shpoonj wrote: post #141

So there was a paternity test, right? I'm assuming there was and it just wasn't mentioned in the write up. 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.

I can't believe this needs stating, but the result of the exome sequencing implies that Bertrand is my son (with a certainty higher than any conceivable paternity test).

And, to be clear, I never doubted for one second that he was mine.

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