rcorinne's Pregnancy

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An Evening at Seattle Children's Hospital (update in comments)
By rcorinne » Posted Jul. 24, 2015 9:12am - 589 views - 12 comments

Where to begin? Well, we went to an appointment with a pediatrician on Wednesday to check up on Emma sooner than her 7-10 day because of her NICU stay. The doctor we saw was great. She was more like an empathetic mom than physician. She said Emma looked healthy on all respects. We were all relieved especially that her weight was just half an ounce shy of her birth weight. Such a great breast feeder. Unfortunately, she called us up later in the day to say Emma had an abnormal result on one of her newborn screening tests. They were going to rerun the test and get back to us. On Thursday afternoon we got the call that her C8 result was still abnormal and we had to go to the hospital via the ER to get her further testing ASAP, without rushing, no actual emergency yet, just serious enough to need to be seen that evening. We got a fairly incompetent nurse who tried and failed to collect sufficient volume of urine and blood from Emma. Long story short: urine catheter fail, 3 pokes for blood (2 out of 3 fail), 2 different taped on urine collection bags, 2 feedings, and several hours later allowed to go home. All of the initial test results have come back normal, but we must wait for the rest. Our instructions: feed her often. She is soooooo good, ladies. I am extremely blessed with a chill baby (so far). Today we have hearing test scheduled. Also, we'll take her to DH's work to show off and fill out insurance paperwork.

Comments for this Journal Entry

	Comment from luckyrobin » Posted Jul. 27, 2015 5:57pm Glad she is okay. So sorry she had to endure all the testing:( Super that she is a good feeder!
	Comment from eat2nourish » Posted Jul. 27, 2015 10:02am I'm so happy Emma is home. I'm glad they caught the genetic problem early. I'm sorry you're having to go through this. You and your family are in my thoughts. xx
	Comment from rcorinne » Posted Jul. 27, 2015 9:51am Yes, Summer, it's a genetic mutation. She has it forever. It's pretty rare, which is why most people haven't heard of it.
	Comment from Summer0120 » Posted Jul. 27, 2015 8:42am Sorry to hear about the results, but glad they found them so soon. Is that something she will have the rest of her life? I've never heard of it.
	Comment from josamarie » Posted Jul. 24, 2015 8:54pm I'm glad you got an answer, it's so scary to find out your baby has something but now that you know what it is and how to treat it, she'll be great! Hope you get some rest after your stressful hospital experience!
	Comment from tmhess » Posted Jul. 24, 2015 7:08pm Sorry you are going through this! I actually work in the healthcare field and know what MCAD deficiency is. I'm glad they found out so early on for you! Once you know about it it can be very easy to stay on top of. It sounds like your doctors took the actions that needed to be taken instead of not working up the abnormal lab, which is always reassuring. :) Hopefully the geneticist puts you at ease and answers all your questions.
	Comment from rcorinne » Posted Jul. 24, 2015 5:21pm Just got results from her tests. She has MCAD deficiency. We're going have to see a biochemical geneticist to talk about treatment, but as far as I just found out from the pediatrician, she just has to eat often. There's no enzyme replacement therapy. Scared, but at the same time relieved that it's nothing worse. Don't know how to feel exactly. This is a lot at the moment.
	Comment from HzlGreenEyes » Posted Jul. 24, 2015 11:16am Oh, poor Baby. I'm so sorry you had to go through that. Also glad that Emma is doing well too. Sounds to me you are in good hands with her docs!