Genetic Test Results

Our GI specialist called us yesterday. We've been waiting for this phone call since we left the hospital at the end of May. We have been fairly certain that Emmery has Alagille Syndrome, but without the official results we weren't for sure. Well, we don't have to wonder any longer because the results do show that she has a mutation on her JAG1 gene and therefore has been diagnosed with Alagille's Syndrome.

What now?
Nothing much changes except we finally have a name for what is going on with her. We will also be referred to a genetic specialist. I have yet to find out what they will actually do for us, but it will be another specialist we will see.

The good news:
With this diagnosis is that we can rule out biliary atresia so she can avoid surgery for now. They also believe that the mutation that her lab results show are very unique and most likely was not inherited, but a new mutation. This means we may not have to worry if our boys carry this gene.  

This week I received a gift from my aunt for Emmery. She hand stitched and framed
 Psalm 139:13-14.

"You created my inmost being, you knit me together in my mothers womb.

 I praise you because I am fearfully and wonderfully made."

Thank you Aunt Lori for this beautiful gift.

 

I know this wasn't a coincidence. This is God working and reminding me that he has made her... and has made her wonderfully. The world may see her as having a disorder or mutation but He sees her as perfectly made.

If you are the praying kind:
-We are praying for her liver to continue to remove the bile.
-We are praying her heart murmur goes away.
-We are praying for continued peace over her diagnosis



Love,
Emmery's Mom