>> Saturday, June 20, 2015
Let's cut to the chase shall we?
Glenn is unique. Uniquely unique as it turns out.
He has been diagnosed with KBG Syndrome. That, in itself, is rare (About 60 documented cases worldwide) but the really unique part of Glenn's diagnosis is that he has an insertion in the chromosome that is related to KBG Syndrome whereas most patients have a deletion or duplication.
Glenn is the ONLY documented case of an insertion in the world. The ENTIRE world. Animal or human. At this moment he is 1 in 7 Billion. We are confident there are more, but where? And who?
Important to note: Bug has two copies of this gene, one good and one bad, just like everybody. BUT his bad boy is more dominant, it took over the house.
The details for those of you playing along at home:
In the ANKRD11 gene we have 20 exons. One right after another, lined up lovely (in Bug it's lovely until we hit exon 10). But hooray! That's what we should have, sorta. Those exons work together to produce a sexy protein; ankyrin repeat domain 11 (ANKRD11). In Bug, we have 9 lovely exons and then...we stop building lovely things when the ugly stepsister shows up: Exon 10 (The Insertion Mutation). After that we have, maybe, 10 exons with 'good personalities' (read: might be lovely but they are not being used). At line 10 of that code, we have an anomaly. Half of that gene is wonky which means that the ANKRD11 protein rides the short bus (they are LITERALLY too short in length) with Bug. Seems simple doesn't it?
Well, it is simple really, almost beautiful in its abilities to function mostly perfectly but it's also very problematic. This is the foundation for a lot of things. Face shape, teeth size, intellectually ability, hearing, sight, organs...hands...they all can be affected. And the treatment, you may wonder? Treat the symptoms.
Chances are almost non-existent that his condition will be replicated in our family. There is no familial inheritance in play. That's a relief.
There is no magic bullet. And there is no large population affected, there is no Foundation, there is no unified support group.
What there is...is Bug.
So I put this out into the world, looking for more KBG Syndrome families or people that MAY have heard this as a possible diagnosis. Let's compare notes, let's talk about what we know, what we don't know and let's kick this to the curb.
Invite people you know that have KBG or another ANKRD11 diagnosis to join the new FB page, KBG Foundation, and share their stories while I build the KBG Foundation (Yes, we are forming a Foundation to try to help our boy and the possibly countless others like him).
The more we know, the closer the cure.