So, technology wise, what have you learned from this? Your internet presence helped you find an audience. How do we help people who don't have that but still have access to the internet?
At what point do people with chronic and untreated illness realise they may have something very rare?
There's no doubt that my technical blog helped do this the first time. But, I firmly believed that this could be repeated without an established presence.
And, it has been repeated.
After I co-authored an article with a fellow parent describing how social media + sequencing could discover diseases, a family with an undiagnosed child reached out to me.
They had been exome sequenced, but they were left with two de novo mutations of unknown clinical significance. It wasn't clear if either was the cause of their child's symptoms.
I gave them advice on how to structure a site with the highest likelihood of finding another patient.
Within 29 days, they found a second patient with a de novo mutation in the same gene (KDM1A). Just looking at the kids made it obvious they had the same disorder.
And, so KDM1A has become the second disease discovered by social media + sequencing.
The heartening aspect is that this family didn't have a prior social media presence at all.
I recommended that they buy Google AdWords on the names of the candidate genes of unknown clinical significance they were given, but even that wasn't necessary.
So, I'd recommend that anyone going through a diagnostic odyssey and start blogging everything -- medical terms, lay terms, doctors names, symptoms, medications, treatment attempts, etc.
These are all the kinds of things that fellow sufferers are likely to type into Google.
Recently I was googling for NGLY1 references on German language web sites and found some very short thread in a child healthcare forum (or something similar) where some parent described their child, some other guy said it sounded a bit like your case and linked to your site, and the OP replied that it sounded similar indeed and they'd be in touch.
I don't know if that was really one of the cases, but your web site sure has impact.
At what point do people with chronic and untreated illness realise they may have something very rare?