The first of December and the first snow of the year that's sticking to the ground - how pretty! It wasn't just a memorable day of West Michigan weather, it was also a pretty important day for our new little girl. Today we drove to Detroit Children's Hospital to get some follow up testing done for Macey. They are testing her for SCADD, a genetic enzyme deficiency that was found in an abnormal newborn screen. She hasn't been officially diagnosed. That's what we're getting testing done for.
As you can imagine, worry is the first thing that hits you when you find out your newborn may be affected by well, anything. Because the things they test for are so specialized, the typical family doctor doesn't know much about the possibilities. In fact, we weren't told much more than what we could find on the internet. We were told to look for certain symptoms and if we saw any of these things, we should bring her to the ER and were given a 'golden' ticket to be first in line to check in. The particular symptoms of this deficiency we have to look for are sleepiness, vomiting, diarreah...all pretty normal things that you experience with a new baby. So my questions were, how sleepy is too sleepy? how much vomit is too much? what's considered an abnormal BM? And so the worry sets in.
We initially took her to DeVos to get some blood drawn for follow up tests. We also had to collect urine from our three day old baby - that completely sucked, but after a team effort between Andy and I, we finally 'caught' the 20 ml we needed. Those were sent to DCH and Mayo Clinic for testing. In the meantime, we have to treat her as though she has been diagnosed so we know her body is getting the food energy she needs.
During the wait for the test results, I got a call from a nurse at the Children's Hospital. that was taking care of Macey's file. What a blessing. They are specialized in genetic defficiencies, called us shortly after we were told about her results and are available to us 24/7 should I have any questions. I've used the line quite frequently. Better safe than sorry!
So her initial tests came back slightly elevated, which was somewhat good news. The good news was that a patient diagnosed with SCADD usuually tests much higher than what Macey did. The bad news is that she needs follow up testing to be officially diagnosed. That's what we got done today.
We spent about 4 hours today at the genetic clinic at the hospital. The nurse specialist met with us for quite a while and went over everything in a lot of detail. Andy and I did our homework, so we felt pretty confident in understanding all that they were saying. Macey also had to get poked to send her bloodwork, once again, to Mayo for more testing that will allow them to properly diagnose her. She squirmed at the initial poke, but then just sucked away at her pacifier as the blood was being drawn. What a tough little angel.
At that moment when I was holding her as the blood was being drawn from her itty bitty arm, I thought of all the families that have children affected by things much worse and have blood drawn daily. My heart went out to the parents that won't ever have a diagnosis to their children's problems and live in worry daily about their little one. I thought of all the kids affected by things much worse - cancer, lukemia, MS. How tough are those kids and how tough are those parents to watch their children and know that they cannot fully help them. And it was then that I felt so much peace.
We are so blessed. Blessed that even that if she is diagnosed with SCADD, it is something we can handle and she can live a completely normal life. Blessed that there is technology to know that she may or may not even be affected. Blessed to support her with all the love in the world. Blessed that people that we don't even know are praying for her.
Thank you so much for all the prayers. We will get full results back in 3 to 4 weeks. Until then we will be waiting in patience, not worry and thankful for the many blessings God has given to us.
Psalm 28:7
The LORD is my strength and my shield; my heart trusts in him, and I am helped. My heart leaps for joy and I will give thanks to him in song.
As you can imagine, worry is the first thing that hits you when you find out your newborn may be affected by well, anything. Because the things they test for are so specialized, the typical family doctor doesn't know much about the possibilities. In fact, we weren't told much more than what we could find on the internet. We were told to look for certain symptoms and if we saw any of these things, we should bring her to the ER and were given a 'golden' ticket to be first in line to check in. The particular symptoms of this deficiency we have to look for are sleepiness, vomiting, diarreah...all pretty normal things that you experience with a new baby. So my questions were, how sleepy is too sleepy? how much vomit is too much? what's considered an abnormal BM? And so the worry sets in.
We initially took her to DeVos to get some blood drawn for follow up tests. We also had to collect urine from our three day old baby - that completely sucked, but after a team effort between Andy and I, we finally 'caught' the 20 ml we needed. Those were sent to DCH and Mayo Clinic for testing. In the meantime, we have to treat her as though she has been diagnosed so we know her body is getting the food energy she needs.
During the wait for the test results, I got a call from a nurse at the Children's Hospital. that was taking care of Macey's file. What a blessing. They are specialized in genetic defficiencies, called us shortly after we were told about her results and are available to us 24/7 should I have any questions. I've used the line quite frequently. Better safe than sorry!
So her initial tests came back slightly elevated, which was somewhat good news. The good news was that a patient diagnosed with SCADD usuually tests much higher than what Macey did. The bad news is that she needs follow up testing to be officially diagnosed. That's what we got done today.
We spent about 4 hours today at the genetic clinic at the hospital. The nurse specialist met with us for quite a while and went over everything in a lot of detail. Andy and I did our homework, so we felt pretty confident in understanding all that they were saying. Macey also had to get poked to send her bloodwork, once again, to Mayo for more testing that will allow them to properly diagnose her. She squirmed at the initial poke, but then just sucked away at her pacifier as the blood was being drawn. What a tough little angel.
At that moment when I was holding her as the blood was being drawn from her itty bitty arm, I thought of all the families that have children affected by things much worse and have blood drawn daily. My heart went out to the parents that won't ever have a diagnosis to their children's problems and live in worry daily about their little one. I thought of all the kids affected by things much worse - cancer, lukemia, MS. How tough are those kids and how tough are those parents to watch their children and know that they cannot fully help them. And it was then that I felt so much peace.
We are so blessed. Blessed that even that if she is diagnosed with SCADD, it is something we can handle and she can live a completely normal life. Blessed that there is technology to know that she may or may not even be affected. Blessed to support her with all the love in the world. Blessed that people that we don't even know are praying for her.
Thank you so much for all the prayers. We will get full results back in 3 to 4 weeks. Until then we will be waiting in patience, not worry and thankful for the many blessings God has given to us.
Psalm 28:7
The LORD is my strength and my shield; my heart trusts in him, and I am helped. My heart leaps for joy and I will give thanks to him in song.
4 comments:
Thanks for the update, Renee. It sounds like you have one tough cookie :-) You guys are certainly in our prayers.
Brad
I thought about you guys all day yesterday. So glad to hear how it went.
You're in our prayers, too. And I think you have such a wonderful outlook about it! Macey really was blessed to be born into your family!
You are all in our prayers. Thanks for the update! She is so precious!
Hi Renee,
Congratulations on your new girl! Macey's photos are beautiful...and Cami looks so happy. Connie told me some about what's been happening, so I just checked your blog. I'll keep her in my prayers too. Here's another beautiful verse: IS 40:11 - "He tends his flock like a shepherd; He gathers the lambs in His arms and carries them close to His Heart; He gently leads those that have young." Sounds like He is already holding you all close and leading you... I love the promise of Healing in His wings too.
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