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Hunting Down My Son's Killer

matt.might.net

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Re: Hunting Down My Son's Killer

#11

Post by Stwerp »

mattmight wrote: post #5
euroclydon wrote: post #2

Where is the line drawn between medical research and healthcare for your son? In other words, what on earth does this cost?

Remarkably, the cost of the exomic sequencing is a small fraction of what we spent on individual genetic tests over three years. 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 techni…

Your article is amazing. I was moved to tears many times reading through this. (My wife is 6 months pregnant right now.) Just wow. Good luck with it all, and the fact that Victoria does not have the same diagnosis is just amazing! I'm glad Duke could help and your story is beautiful and inspiring. I don't know what to say, just, thank you so much for writing this. I will certainly be passing this on to some friends.

Re: Hunting Down My Son's Killer

#13

Post by aarondf »

I've just finished the article and I must say, my feelings are mixed. I'm reading along and it reads like an epic tale where the hero will surely win in the end, it's both mysterious and exciting. I got caught very caught up, wondering what you were going to try next. (Note: It's never Lupus.) But then I would come out of my Dr. House fantasies and realize, this is real. This is your son. And my heart would break for him and your family.

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.

Re: Hunting Down My Son's Killer

#14

Post by mattmight »

djb_hackernews wrote: post #12

This is extremely interesting. 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?

Sadly, since he's four and a half, "normal" is probably too much to expect.

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.

Re: Hunting Down My Son's Killer

#15

Post by mattmight »

nicholassmith wrote: post #10

Wow, just wow. A parent will go to any limit for their child but that was one of the most truly detailed descriptions I've ever heard of diagnosing a new genetic condition. Thank you for being willing to share it. I genuinely hope you find a solution, will you keep updating on the progress?

Thanks for the kind words!

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.

Re: Hunting Down My Son's Killer

#16

Post by apaprocki »

Just as a useful data point, exome sequencing is now in the sub-$1000 range.[1] There will definitely be a shortage of skilled people able to interpret the data and find mutations like the one mentioned in this article as the sequencing price point continues to drop.

[1] https://www.23andme.com/exome/

Re: Hunting Down My Son's Killer

#17

Post by edwinnathaniel »

jasonlotito wrote: post #9

As a father with a son with severe autism (not to suggest it's equivalent to Bertrand's condition), there is an important lesson here that might not be apparent at first read. 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.…

This important lesson can only be detected by parents. People with no children won't ever understand this no matter how hard they try/re-read the articles many times.

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? (^_^).

Re: Hunting Down My Son's Killer

#18

Post by tincholio »

mattmight wrote: post #7
lmm wrote: post #3

I wonder if another jurisdiction would be more willing to let you try the enzyme? The FDA is famously slow in granting approval.

The FDA has a special protocol in place for rare cases like my son. 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.

Dude, as a recently minted father, I can't begin to grasp what you guys are going through. I just want to wish you the best of lucks with this.

On a completely unrelated - and irrelevant - note, I find your writings fascinating.

Re: Hunting Down My Son's Killer

#19

Post by hirenj »

First thoughts reading up on this pretty cool bit of detective work: Since this is a deficiency in production of Pngase F, I'm not sure a simple injection of Pngase F is going to work. I'd guess you'd need to target Pngase F into the ER to kick start the proper clean-up process, and the human form (http://www.uniprot.org/uniprot/Q96IV0) is different to the recombinant form that you can get synthesised (http://www.uniprot.org/uniprot/P21163). I'm not really sure how native Pngase-F is regulated!

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.

Re: Hunting Down My Son's Killer

#20

Post by altrego99 »

jasonlotito wrote: post #9

As a father with a son with severe autism (not to suggest it's equivalent to Bertrand's condition), there is an important lesson here that might not be apparent at first read. 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.…

Sorry, not worth it at all. Years 1-10 - you will loose all your time - cleaning diapers, making the child eat, making it study, teaching it values - waking up at night - and doing a lot of things for it. Yes you'll see it learn, smile, grow up and you're genetically conditioned to like it. 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.

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!

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