Chaia has Generalized Arterial Calcification in Infants (GACI).
This disease is a result of the ENPP1 gene mutating.
That gene isn't mutated in Chaia.
The gene that is mutated is the ABCC6 gene. When that gene is mutated the disease that occurs is PXE...it's a skin disease.
So Chaia has GACI stemming from a non-GACI gene.
That doesn't happen.
It would be assumed that both mom and dad would be recessive carriers of this mutated ABCC6 gene. I am. Shaina is not.
Clear as mud?
So Wednesday we got a call from Dr. William Gahl at the National Institute of Health in Bethesda, Maryland. It's a research place that is run by the government.
They want us to come out there at the end of the month. They find the bizarre genetic pattern as odd as we do. They want to investigate.
So it appears that we are heading to Maryland at the end of this month for a week. No promise of treatment...more just trying to understand it.
So in one sense, we are starting over with a whole new set of teams with a whole new set of values and a whole new set of plans. That can be pretty overwhelming and scary to think about.
In another sense, it's a whole new group of doctors and teams, a whole new city, a whole new state...all with the opportunity to encounter the glory of a life giving God through a little girl with angel eyes, an ornery smile and as sweet a spirit as there has ever been.
Maryland, hold on to your hats.