Thursday, May 26, 2011


For some of my readers, this is old news.  For others, this will be a shock, but I refuse to sugar coat it.  John and I were waiting a bit until we felt comfortable "coming clean", so to speak, with it.

I can't remember if I had blogged about Judith's newborn screen before.  John is a CF carrier, and she came back "positive" for the genetic screening.  I had been tested by the reproductive endocrinologist during infertility testing, and came back negative.  So no big deal - Judith should come back a carrier, right?


Judith has cystic fibrosis.

We found out a little more than a month ago.  Because of that positive result, we had to go for a sweat test to confirm that she is either a carrier or has the disease.  They couldn't collect enough sweat during the first test in February because she was still too tiny (only over 6 lbs at the time). We repeated the test in April, and they collected enough of a sample.  Her numbers came back around 61-62, meaning she has the disease (according to the CF Foundation, the criteria for infants under 6 months of age is as follows: equal to or less than 29mmol/L = CF very unlikely, 30-59mmol/L = CF is possible, greater than or equal to 60 = CF is likely to be diagnosed).

So what does this mean for us?

Honestly, we don't know, because there are so many unknowns.  The good news?  The life expectancy for people with CF is increasing.  As of right now, the average life expectancy for someone with CF is the mid-30s.  Judith is also with a great team of doctors at Hershey Medical Center, and I have full confidence that she will get the best and most up-to-date care there.

We don't know the exact mutation she carries - they drew a ton of blood from her on Tuesday (that was an adventure...), and some of that is being sent out for genetic testing.  We do know that the most common mutation, Delta F 508, is present (the gene John carries), but now we need to find out what I apparently carry (to get CF, you have to get a gene from both parents).  I wish that the test wasn't so expensive, and that the REs would test for all mutations right away - it would have been helpful to know that I carry a rare mutation, and maybe I wouldn't have been so casual about the positive result in the first place.  But you can't change the past.  Anyway, we'll find out what the mutation is in a few weeks when we go for our next appointment.

This is a big lifestyle change for us, and we have to be very careful around anyone who's sick.  Not just for the preemie status anymore, and this will be a forever precaution - not something I had hoped would "go away," so to speak, in a couple years.  We fully intend to give Judith as normal a life as possible, and she will be able to do things that she wants to try.  Only difference will be she has to be careful with illness, she'll have to take different medications for the rest of her life, and she'll have to do the therapies to clap the mucous out of her small airways to the large airways to help prevent infection.


  1. Wow, guys, sorry to hear this news. Y'all are in my prayers! It sounds like you have a great outlook on it...Judith is lucky to have such a great mom and dad!

    Oh, yeah, this is Mary C. from the NICU...outing myself as a blog follower of yours!

  2. Coming over from the bump but this post really got me. Same thing happened to us although with different result. My daughter's newborn screem was positive for CF. I was a noted carrier, my husband was not. We thought we were in the clear. When the screening came back, she had the sweat test which was negative. She carries the DF-508 mutation. I was so upset that we thought we were in the clear and in all reality that is not the case.

    Your little girl is adorable!!