Title: (There&#x27;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&#x27;s preliminary diagnosis via experimental exome sequencing:<p>https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=4038113<p>Two years ago, he was the only known NGLY1 deficient patient in the world.<p>By spreading the story, we&#x27;ve found 16 cases worldwide.<p>We&#x27;ve organized.<p>We&#x27;ve found preliminary treatments.<p>Clinical trials are in the pipeline.<p>In some cases, we&#x27;ve saved the lives of previously undiagnosed patients.<p>And, these children&#x27;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.
Upvote: