Thanks, HN: You helped discover a disease and save lives
(There's a shout-out to HN in the article.)<p>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:<p><a href="https://news.ycombinator.com/item?id=4038113" rel="nofollow">https://news.ycombinator.com/item?id=4038113</a><p>Two years ago, he was the only known NGLY1 deficient patient in the world.<p>By spreading the story, we've found 16 cases worldwide.<p>We've organized.<p>We've found preliminary treatments.<p>Clinical trials are in the pipeline.<p>In some cases, we've saved the lives of previously undiagnosed patients.<p>And, these children's cells are turning into gold mines for the basic science of glycobiology.<p>From the bottom of my heart and on behalf of the entire small but optimistic NGLY1 community,<p>Thank you.