Wednesday, May 9, 2012

Unexpected...but it's all good!

Not long after our 20 week appointment with our little Miss, I received a phone call from my OB. First to tell me  I needed to change my thyroid medication and then she went on to tell me the doctor that had reviewed our ultrasound recommended we come in for genetic counseling. 

I had to chuckle, because at our last appointment, Shane and I explained further in depth to my OB what PKU was, what it means, why there is a chance for our next child to have it, and how we handle it with Isaiah. Who needs 'counseling' on the topic? We've got this. ;)

And I should clarify, I would not expect my OB to know this information. She takes care of me and baby right now. And right now we are perfect and healthy! There is no evidence of PKU. PKU is something that we find out about after our bundle of joy is born! 24 hours after her first meal to be exact.

However, my heart sank when she mentioned the doctor advised we be seen again for another ultrasound. I think I started giving her twenty questions...wondering why we would need to be seen if everything on the first ultrasound was fine?

Well....it seems that since we know there is a chance for our little girl to have a genetic disorder, my pregnancy is considered high risk. And therefore my ultrasound was flagged because of the history of PKU. Even though our little girl looks great. 


Yesterday I received another call, from the genetic counselor this time, who further explained to me that we had options of having an amniocentesis done to find out if our little girl has PKU before she is born. Shane and I discussed this, and decided that there was no point in taking a risk, even if it was only a small risk just to know sooner. The newborn screening is very effective and we have asked if we can have her tested at least twice for PKU after she is born just to be sure. I think our plan is to discuss with the genetic counselor if there could be any sort of rush on her test, since we know there is a 25% chance that she will have it. I would prefer to not have to come home, only to have to go back to the hospital like we did for Zay. The biggest relief for me is that we are the most emotionally prepared we can be for news of PKU. Physically I know the challenges of PKU will still be there with the extra work involved, but this time around I know we can do it and I know the amazing outcomes of our hardwork. 

I think I've mentioned this before, but after Isaiah was born and diagnosed I truly believed it meant no more children for us. And when I did think about having another baby, I was distraught with the thought that I would be putting another baby at risk for having PKU. Then, I met real life families that had LOTS of children! Some had PKU, some didn't and they were ALL thriving and doing so well! It gave me so much hope for our family! Some people may still judge us for expanding our family while knowing the risks, but Shane and I are confident that God will bless us with exactly what He has planned.


So after talking with the genetic counselor and her explaining the doctor's recommendations to us, we will have a level 2 ultrasound with my next appointment so they can check on our little girl again and make sure there are no concerns that would cause them to worry that she isn't perfectly normal and healthy. I don't expect them to see anything different than what they saw on the first ultrasound, but it's better to be certain! I'm not exactly sure what a level 2 ultrasound involves, but what I gathered from the genetic counselor was that a doctor will be present and they will just look at her with a little more detail. 

1 Peter 5:7 says: Cast all your anxiety on him because he cares for you. And that's just what I'll do. 

2 comments:

Katherine said...

I was also very concerned about having a second child. We had her screened twice for the pku. Once with the normal newborn screening and then an additional draw by order of the genetics doctor. Baby girl came back fine. :) It has been an adventure with her, learning how/when to feed her what but she has done great too! I thought it would be easier to have a pku kid because I already knew what to do with that. She's 2.5 years old now and will often ask if she still has points at the end of the day for a snack, since that's what we talk about with her brother. :)

Jennifer Rice said...

I felt those same emotions too, which I know we discussed before. But I knew God was in control and nothing would go without His will being done. I had a feeling all along that our baby girl would not have PKU, and I was right. It is different, but we will adjust just like anything else we might face. Having the club foot is giving her a different challenge right now. But we are so blessed, and I know you will be too no matter what happens! You're an awesome mom!

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