Wednesday, July 28, 2010

Alexis Michelle Cullumber

 It is hard to believe that my baby is already 6 weeks old!! It has flown by. I have debated about writing this post but in the end decided that it would be okay. About 3 weeks ago I received a phone call from our pediatrician telling us that one of the tests on the newborn screening came back abnormal. He threw out some big words explaining to me what it was and told me that we needed to go to the lab and have her blood drawn as soon as possible for more definitive testing. He went on to tell me that in the meantime I needed to watch her for any floppiness or extreme sleepiness. I thought to myself, hello I have a newborn, she fits both of those explanations!!! Regardless, Joe and I took her in to have blood drawn. I wrote down the name of the labs they were testing and went home and did some research. I was anxious all weekend due to my findings and by the time the Dr called on Monday with the results, I had pretty much prepared myself for what he was going to say. Monday came along and the phone call I expected came. The labs again had come back abnormal and the Dr wanted to see us that afternoon to talk about it. Alexis has a condition called Congenital Adrenal Hyperplasia. Basically her adrenal glands don't produce any Aldosterone (the hormone that regulates salt balance) or Cortisol (the "stress" hormone, also responsible for blood pressure regulation, glucose metabolism and alot of other things). Treatment for this is basically steroids three times a day for life to replace what is missing. With this treatment she should grow and develop normally. Blood draws once a month for the first year or so put a damper on things but when the doctor tells you that without treatment she would eventually crash and die it puts everything into perspective. The scary thing is that only about 19 states test for this condition on the newborn screening tests and from my research I read that most babies that are untreated crash within the first 6 weeks of life. I am extremely grateful for such a wonderful pediatrician who spent over an hour with me answering questions last week and for family who have been so concerned and supportive.
    On a happier note, She is doing awesome. She is growing like a weed and last week at the Dr's she tipped the scale at 10 lbs. I am afraid she is going to outgrow all the clothes I saved from Haiden. She has these cute little leg rolls and knee dimples. Oh well I guess I will have to do some shopping. We are blessing her on Sunday but I snapped some pictures of her the other day while I was playing around with the camera. 

9 comments:

Grammie Star Wars said...

You are so blessed, with a beautiful family.

Blessed with an awesome doctor.

With your knowledge and love you are going to fabulously well together.

love,
Mallory's Haddie ;.)

Stacy said...

Oh Jenn, I'm glad you guys figured everything out quickly and it looks like things will be okay! We'll keep her in our prayers. She's beautiful! Let us know if we can do anything....from 400 miles away (i.e., if you ever need a break, come here!)

Ashlee said...

She's adorable Jen I'm so glad you got it figured out so that she'll be okay, how scary!

Lindsey Smith said...

Jen she is beautiful!! I;m so sorry that things have been so hard, but you are so lucky to have such a wonderful Dr who was smart enough to get thing check out. I'm so glad that little miss Alexis is going to be ok. We will pray for you guys. If yon need anything just let me know!

shayla and greg said...

oh my gosh.. that is so scary! i'm so glad the doc figured it out soon enough. who is your pediatrician?

Kami said...

You have such a beautiful family and your two girls are just adorable! I found your blog while I was looking at someone elses blog. I am sorry to hear that Alexis has that congenital condition. I can't even imagine what your thoughts are and how hard it must be. But I am glad that you have a great doctor to help you through it. I am glad you posted about it on your blog. I always wonder about those newborn screens and haven't ever heard from anyone that something has come of it. I am glad they are in place so that Alexis can live a happy healthy life.
Kami

Sheena said...

We're sorry to hear about her condition, and so glad that they were able to find out what it is and how to help it. Thanks for posting about it--I am glad that you told us! Good luck with it all. It is neat to know that even through hard trials, Heavenly Father really is watching out for us and teaching us.

Anonymous said...

Hey Jenn, I've been out of the loop lately with blogs. My sidebar wouldn't load for over 2 weeks and I couldn't read other people's blogs. I just stopped going on mine because it was a waste of time. We finally got things up and running yesterday, so I'm playing catch up.
Mom filled me in on everything that is going on with Alexis. I've been meaning to call you the last week and see how you guys are doing. What a blessing to have such an awesome pediatrician. I'm so glad everything was caught early and, with the meds, she'll be able to live a healthy life. I can't wait to meet her!

Kami said...

I'm very late in reading this - what a scary situation! I'm glad they were able to find this and how blessed are we to have medicines that make it possible for Alexis to live a long and happy life!