- Pregnancy
- Baby & Toddler
- Parents
- Getting Pregnant
- Baby Names
- Product Reviews
-
Registry
- Community
-
More
Want a personalized experience?
Download the free app
January 2014 Moms
peanutmuse
member
Test results are in
peanutmuse
member
Brennon does NOT have the amino acid disorder that he tested positive for in his initial newborn screening. Whatever caused the positive result has now resolved itself. (Side note, it was actually branched-chain ketoaciduria AKA maple syrup urine disease that he tested positive for in the first test, not the urea cycle disorder that I originally thought. It's not as silly as it sounds, unfortunately. It's just called MSUD because it makes urine smell sweet.)
However, he does have congenital hypothyroidism. It still can affect his physical growth and cognitive development, but fortunately it can be treated with drugs rather than a complete and permanent lifestyle change that would occur with the MSUD. So we are extremely thankful for these results.
We'll have more specific testing done related to the hypothyroidism to determine the course of treatment. Thank you all for your concern when I first posted about this several weeks ago. I appreciate it.
However, he does have congenital hypothyroidism. It still can affect his physical growth and cognitive development, but fortunately it can be treated with drugs rather than a complete and permanent lifestyle change that would occur with the MSUD. So we are extremely thankful for these results.
We'll have more specific testing done related to the hypothyroidism to determine the course of treatment. Thank you all for your concern when I first posted about this several weeks ago. I appreciate it.
This discussion has been closed.
Re: Test results are in
Good luck with the next steps to get the congenital hyperthyroidism under control!
TTC since 8/2010 (off BCP since 8/2009) Unexplained Infertility
12/10/2012 U/S #1 6w4d - heartbeat EDD 8/1/13
1/18/14 2:11am Abigial Morgan is here! 5lbs 14oz and 18 inches of pure cuteness!!!
Baby Chugging born 12.28.13
induction due to HELLP
Thanks, ladies.
BFP #2 (5/18/13) due 1/26/14. Grow baby grow!
Its a surprise! Team green!
Due Date 11/10/16
My cat can read EKGs, can your human do that?
_________________________________________________________________
TTC Since 8/2011
BFP #1 5/13/12 * EDD 1/24/13 * MC at 7 wks 4 days on 6/11/12
BFP #2 5/13/13 * Current EDD 1/23/14
Baby N born 2/8/14
bfp#1-10/29/12,EDD: 7/3/13. nothing found @ 1st u/s, natural mc 12/10/12. "Bean"
bfp#2-5/10/13! EDD: 1/18/14. "Peanut" Arrived 1/13/14. Diagnosed with Cystic Fibrosis
bfp#3- 9/26/14. EDD: 5/7/15. no heartbeat found @ 1st u/s, natural mc 10/23/14. "Little Bug"
**Psalm 139:16**
Married: 9.22.12 - DD: 1.7.14 - EDD 2: 10.30.17 - J14 OG
BFP #5 11/15/14, Team Green EDD 7/22/15
BFP #4 4/30/13, baby girl born med-free Jan. 2014
BFP #3 9/24/12, Missed m/c at 9w1d (baby measured 8w5d)
BFP #2 9/23/10, healthy baby girl born med-free June 2011
BFP #1 5/21/10, Missed m/c at 10w4d (baby measured 8wks), D&C 6/29/10
"Life is like a camera, just focus on what's important and capture the good times, develop from the negatives and if things don't work out, just take another shot."
@sapatel1 -- we start the bloodwork on Monday to determine the severity and course of treatment. Our pediatrician seems to think it's mild, but honestly, I don't trust her. That's another long story, but I'll sum it up by saying that I didn't find out that there was even an issue until the initial results had been in her hands for 3.5 weeks. And even then, it was only because I called the pedi office due to an e-mail that I received from the state health dept.
utm_medium=HTML&utm_campaign=tickers" title="Parenting Tips"><img src="http://global.thebump.com/tickers/tt1a641b.aspx" alt=" Baby Birthday Ticker Ticker" border="0" /></a>