Two years ago, HN was the first to pick up on a post I wrote about my son's preliminary diagnosis via experimental exome sequencing:
https://news.ycombinator.com/item?id=4038113
Two years ago, he was the only known NGLY1 deficient patient in the world.
By spreading the story, we've found 16 cases worldwide.
We've organized.
We've found preliminary treatments.
Clinical trials are in the pipeline.
In some cases, we've saved the lives of previously undiagnosed patients.
And, these children's cells are turning into gold mines for the basic science of glycobiology.
From the bottom of my heart and on behalf of the entire small but optimistic NGLY1 community,
Thank you."},"title":{"matchLevel":"none","matchedWords":[],"value":"Thanks, HN: You helped discover a disease and save lives"},"url":{"fullyHighlighted":false,"matchLevel":"full","matchedWords":["newyorker",".","com"],"value":"http://www.newyorker.com/reporting/2014/07/21/140721fa_fact_mnookin?currentPage=all"}},"_tags":["story","author_mattmight","story_8050106"],"author":"mattmight","children":[8050116,8050229,8050289,8050461,8050471,8050509,8050526,8050533,8050655,8050774,8050792,8050838,8050892,8051008,8051633,8051686,8052047,8052179,8052307,8053176,8055276,8057130,8057767],"created_at":"2014-07-17T20:46:31Z","created_at_i":1405629991,"num_comments":109,"objectID":"8050106","points":1483,"story_id":8050106,"story_text":"(There's a shout-out to HN in the article.)
Two years ago, HN was the first to pick up on a post I wrote about my son's preliminary diagnosis via experimental exome sequencing:
https://news.ycombinator.com/item?id=4038113
Two years ago, he was the only known NGLY1 deficient patient in the world.
By spreading the story, we've found 16 cases worldwide.
We've organized.
We've found preliminary treatments.
Clinical trials are in the pipeline.
In some cases, we've saved the lives of previously undiagnosed patients.
And, these children's cells are turning into gold mines for the basic science of glycobiology.
From the bottom of my heart and on behalf of the entire small but optimistic NGLY1 community,
Thank you.","title":"Thanks, HN: You helped discover a disease and save lives","updated_at":"2024-07-03T16:47:19Z","url":"http://www.newyorker.com/reporting/2014/07/21/140721fa_fact_mnookin?currentPage=all"},{"_highlightResult":{"author":{"matchLevel":"none","matchedWords":[],"value":"fergie"},"title":{"matchLevel":"none","matchedWords":[],"value":"I thought I would have accomplished a lot more today and also before I was 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