Sunday, September 8, 2013

A New Chapter

Chaia has Generalized Arterial Calcification in Infants (GACI).

This disease is a result of the ENPP1 gene mutating.

The problem?

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's a skin disease.

So Chaia has GACI stemming from a non-GACI gene.

That doesn't happen.

Crazier still?

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?

Us too.

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.

September 22.

Maryland, hold on to your hats.


Anonymous said...

More signs of hope! Thank you God for new possibilities. Chaia is truly a unique miracle of God and now a new team will get to know that too. Praying for all of you and the new team in MD! Love, Sharon & Bruce

Anonymous said...

Prayers for all!

Anonymous said...

Amen, and thank you God for again showing us through this precious child of Yours that You are not done creating miracles! Prayers for the entire trip, the medical team, Chaia, to again have an opportunity to show others that our God is in control and for you to Mommy and Daddy. Prayers that Maryland will be blessed by her presence and the medical team will provide answers no one knew where there!

Anonymous said...

Wow! What a journey God has given you! Still praying... Kathy

Anonymous said...

What amazingly great opportunities and chances yet ahead!!! Thinking of and praying for you all :)

Anonymous said...

May God grant you strength and wisdom to carry on in this journey. God is good all the time, all the time God is good. Our prayers and love is with you all.

Anonymous said...

None of us know the path the Lord will take us on. But know this... as you and your family carry Chaia on this path, we humbly carry you in prayer. To God be the glory.