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

Her Heart & This Darn Reflux

Emmery is trucking along and is 4 months old! It's been a rough month with lots of sleep deprivation and a fussy baby. But first, a praise report:

-She is growing well and getting bigger!
-Her color has really improved!
-She is alert and active and is sitting her head up while on her belly!
-She is grabbing at things and pulls them to her mouth!

Her Heart:
Back when we first learned about this syndrome effecting her liver, we also learned that those with Alagille's syndrome can have issues with their heart as well. While in the hospital they did an Echo and said she did have a slight murmur but it could go away on it's own. They had us schedule a follow up appointment. We went to this appointment on Wednesday and had her complete another Echo and meet with the cardiologist. Due to the fact that this girl does not hold still they were unable to see really clearly, but they believe that her pulmonary stenosis is progressing. Meaning that the pulmonary artery may be bent or narrowed and need angioplasty.

Getting her Echo

Honestly, I thought we were in the clear with her heart so it came as quite a unpleasant surprise to learn this. I still haven't taken the time to learn more about what is possibly going on in her heart. I frankly am exhausted of reading medical terminology. Actually I sort of just blanked out once the doctors said "progressed". After that all I heard was "wah wah blah blah ... surgery.. wah wah blah"
They want to wait two more months and do another Echo to make sure it really is progressing. This time they want to sedate her so she holds still She has been pegged as a "difficult patient" since she likes to fuss and wiggle. So we will wait until October to find out if her heart really needs some help or not.

Little lady acting like a wild woman while getting her vitals.

 

Last fall at our church women's retreat I was provided a verse that I was to reflect on. At the time I was pregnant with Emmery and overwhelmed at the thought of just having three kids. I felt that maybe it was applying to my anxiety of another C-section or baby. I think it is clear that He was not preparing me for the birth but her life. Here was my verse:

My flesh and my heart may fail, but God is the strength of my heart and my portion forever

.-Psalm 73:26

For now, I will rest in this. He is the strength of her heart and there is nothing more I can do.


This Darn Reflux:
The last month has been rough due to Emmery's acid reflux or GERD. For some reason this issue is so frustrating because unless it effects her weight and growth, the doctors don't seem to be too concerned.  She has silent reflux so she isn't spitting up a lot but is VERY uncomfortable.
Her symptoms are choking while feeding, fussing and wiggling after feeding, wet burps, quick stop breathing episodes, congestion,  coughing, sneezing, overall fussiness, constant rubbing of her nose and waking often at night and at naps. This girl doesn't go more than two hours at night and sometimes nothing can calm her. She was put on Zantac back in May and it never seemed to help. Recently her reflux has got worse. One night last week, I believe I slept for about one hour.. the rest was spent feeding her or trying to get her comfortable.

I have been on a crazy research rampage looking for answers. So far I..

-Keep her upright after feedings
-Feed her frequently and smaller amounts
-Feed her sitting up
-Cut Dairy out of my diet-And more recently trying no Wheat, Dairy, Soy, Chocolate or Caffiene. (I was ok with all of this but the chocolate.. I'm dyin over here) PS The peanut buster parfait I had last weekend didn't count because well I was desperate for some dairy and chocolate.
-Give her and I probiotics
-Tried to thicken her feedings but she has since decided not to take a bottle any longer.

After all this.. still not much of a change. I ended up in tears at the doctors asking for anything else they can give her to help. They have now prescribed Prilosec to help with her reflux and heart burn. She has been on this for a few days and they said it may take a week to see the effects. In the meantime, I keep her happy walking, holding ect. I'm hoping she outgrows this around 6 months. I just feel so bad for her and want her comfortable.

If you're the praying kind:
-We are praying her murmur goes away!
-We are praying that she continues to grow and her jaundice keeps improving
-We are praying that she begins to take the bottle again so she can take her supplement formula
-We are praying she gets relief from this awful reflux
-We are praying for one good nights sleep :)

Love,
Emmery's Mom