Hunting Down My Son's Killer
matt.might.net
Hunting Down My Son's Killer
1–10 of 339 posts
Re: Hunting Down My Son's Killer
#2Where is the line drawn between medical research and healthcare for your son? In other words, what on earth does this cost?
Re: Hunting Down My Son's Killer
#3I wonder if another jurisdiction would be more willing to let you try the enzyme? The FDA is famously slow in granting approval.
Re: Hunting Down My Son's Killer
#4Wow. BTW, any couple planning a pregnancy soon should get tested for Mendelian carriers - eg using the Counsyl or Natera test. These tests won't catch a de novo mutation, of course. But they'll catch a lot of other horrible, horrible crap...
Re: Hunting Down My Son's Killer
#5Where 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 technique is unparalleled.
Re: Hunting Down My Son's Killer
#6Where is the line drawn between medical research and healthcare for your son? In other words, what on earth does this cost?
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Re: Hunting Down My Son's Killer
#7I 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.
Re: Hunting Down My Son's Killer
#8Wow this was crazy interesting. My thoughts are with his parents. I learned a ton just reading the article.
Re: Hunting Down My Son's Killer
#9As 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.
Make no mistake, it's worth it. Looking into those eyes, seeing that smile. Getting your first smile, laugh, hug, or kiss. Nothing compares.
Re: Hunting Down My Son's Killer
#10Wow, 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?