Macy

Macy

Friday, November 15, 2013

Am I being punked...seriously!

One step forward; and twenty steps back?  First off Emmet and Reece are both doing great in NICU in terms of being premature. They are slowly learning to eat by mouth, and are slowly gaining weight. It shouldn't be too much longer before they can come home, and I can't wait!!!

The bad news. About a week ago we received a phone call from the NICU Dr. Emmet's newborn screening came back 'abnormal' for cystic fibrosis. Before I go any further let me explain a little bit about how it's screened for first. What they test for first is what is called an IRT level. It's basically an enzyme that is secreted by the pancreas. If your child's level is above a certain number it's flagged and they go ahead and do DNA testing for the CF mutations. Emmet's came back high enough to be flagged, and when they tested his DNA they found 1 copy of the Delta F508 mutation. It's the most common CF mutation. There are about 1800 or so mutations that can cause CF, and they only test for the Delta F508 and about 20-30 of the next most common. Even though Reece's IRT came back in the normal range they did a DNA test on him as well bc of Emmet; and they found the same Delta F508 mutation in Reece. Cystic Fibrosis is a genetic disorder that is inherited by both parents carrying the mutated gene (just like Macy's FA). So right now we know at the least Emmet and Reece are both CF carriers, and it is possible that one or both could have the disease. They will need to be tested via sweat test, but since they are premature they cannot be tested for 2 more months. All we can do for now is try to stay positive that they are both just carriers. 

Any prayers or positive vibes would be greatly appreciated. 

Take care
Jenn

No comments:

Post a Comment