Judith: Preemie CF Warrior

Judith's story begins on December 3, 2010, when she arrived at 29 weeks 2 days gestation (or a little less than 11 weeks early).  I developed severe preeclampsia, and a level II ultrasound revealed that Judith was intrauterine growth restricted (IUGR).  As a result, delivery was imminent, with the goal being to hold me out as long as possible so I could receive both betamethazone (steroid) shots to help her tiny lungs develop.  At 11:44 am, Judith entered the world via c-section, weighing 2 lbs (910g) and measuring 14 1/4". She was immediately taken to the Neonatal Intensive Care Unit (NICU).

Judith had a few complications during her stay.  Early on, we had a small scare and thought she was developing necrotizing enterocolitis (NEC), a condition that can plague preemies, especially those born weight 1500g or less.  Thankfully she did not have NEC, but did have a plug of meconium that she was having a hard time passing.  Later on, around the time we were working on preparing her to come home, she developed a case of late-onset Group B strep/sepsis with possible meningitis.  We faced a taxing 24 hours while waiting for the culture to be completed.  The nurses, nurse practitioner, and neonatologists were amazing with Judith: they discovered something was wrong, quickly started her on antibiotics, and began lab work to find the source of the problem.  They helped her pull through it, and after a 2 week course of antibiotics, Judith was in the clear and was heading home.  Her stay totaled 63 days, and she came home on February 3 when she turned 2 months old.

Other than the 2 big complications mentioned above, we faced many of the typical preemie complications/setbacks.  It took Judith a bit to begin tolerating her feeds.  She suffered from apnea and bradycardia, and had to take daily doses of caffeine to help control her breathing and heart rate; she eventually outgrew the problem on her own.  Judith was on CPAP for 1 week (started at a pressure of 5, breathing essentially room air, and was weaned to a pressure of 3), nasal cannula for a few weeks after that, then was breathing on her own.  It took her a long time to learn to regulate her body temperature.  She suffered from acid reflux, and was weaned from medications shortly after her first birthday.

While in the NICU, Judith had the standard newborn blood screen that is required for the state of Pennsylvania.  The screen came back with a positive for cystic fibrosis (CF), something that did not surprise us because my husband, John, is a known carrier of the Delta F 508 (DF508) mutation.  We weren't overly concerned at the time, figuring Judith was getting this positive result because she too was a carrier - my genetic screening, completed in 2008 during infertility workups, came back negative.  Just to be sure that this was the reason for the positive, our pediatrician scheduled a sweat test at Hershey Medical Center, and an appointment with the pediatric pulmonologists at the CF clinic was set up.

We went for the first sweat test, and could not get a conclusive result because Judith did not sweat enough - she was still too small for the test to work properly.  A second test was scheduled for April 13, 2011, and this time she did sweat enough, to our relief.  After running the screen and forwarding the results to the pulmonologist, we found out that Judith's numbers - 61 and 62 - were high enough to confirm a diagnosis of cystic fibrosis.  Just to be sure, though, a third test was scheduled, and the diagnosis stood firm - her numbers came back at 64 and 65.  Judith had a complete genetic sequence done to figure out her exact mutations, and it took a while for them to discover the 2nd one.  We know that she actually has 3 mutations: DF508, Q1463, and M470V (does not cause CF when combined with another mutation that causes CF).

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