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November 2013 Moms
mmm50
member
Just found out our LO might have Cystic Fibrosis
mmm50
member
I took N for his one month appointment yesterday and everything was great. He's 90th percentile for height, 75th for weight and head circumference. He has almost full head support and has gained almost 2 pounds in 3 weeks-- which is great for an EBF baby according to our pediatrician. I left the appointment thinking everything is going great and DH and I are doing an awesome job with him.
When I was almost home I got a call from the pediatrician that she received the results of his state newborn screening in that day's mail. (At this point I assumed she was just going to tell me everything was normal-- because honestly I never expected otherwise.) She said she called because she wanted to talk to us before we got the results in the mail (so I knew something was off). She said that N had an abnormal test result for CF and explained the testing procedures that we'll have to go through at the children's hospital in the next couple weeks to determine if he is just a carrier or if he has CF. Luckily it's a sweat test and a blood test- so nothing too invasive. But DH and I will also have to do genetic testing to determine whether just one of us is a carrier or if we both are.
This is a total mindf**k for us. We didn't have any genetic testing prior to pregnancy because no one in our family has any kind of health problems and we aren't of ancestry where there is any particular risk, so this is a total surprise to us. Chances are 90% + he is just a carrier and won't have the disease or its symptoms because they only found one mutation and it isn't one that typically causes the disease. Our main concern is that the mutation they did find is more rare (usually found in people of Ashkenzai Jewish heritage- which we are not) and usually doesn't result in a diagnosis until later in life so that fact that he seems perfectly healthy isn't reassuring. Fingers crossed that he's just a carrier and that only DH or I is a carrier and not both! The next couple weeks can't go by quickly enough.
DH and I aren't sharing the news with our families because our moms would freak out with worry-- so we plan to share once we know what is going on after further testing. Thanks for letting me share here with someone. If I didn't get it out somewhere I felt like I was going to explode!
This discussion has been closed.
Re: Just found out our LO might have Cystic Fibrosis
I would reconsider sharing with your families, or your mom if you are close. My son had 2 seizures in the NICU and I was going to keep it quiet while they did testing but I ended up telling my mom and sister and felt so much better with their support.
Please keep us posted. You and LO will be in my thoughts.
Unexplained IF/RPL
TTC#1 2003 BFNs, 2004-2009
5 angels above
2010 IVF-PGS-FET#1, DD b. Aug-2011
TTC#2 2012 BFNs, 2013 FET#2, DS b. Nov-2013
TTC#3 2015 BFNs, FET#3
(my 6th and last angel above)
Journey Complete.
Anna Catherine 7/23/2012, 35 weeks 5 days, 5 lbs 5 oz (PProm)
Baby Sam 10/4/2013, 36 weeks 2 days, 5 lbs 14 oz