Day 23

In December of 2007, before Gabrielle’s conception Ashley and I found out that we both were carriers of a genetic disorder, Cystic Fibrosis (CF).

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that (1) clogs the lungs and leads to life-threatening lung infections; and (2) obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.

It was at this time that we first began asking a small group of family and friends to begin praying with us for Gabrielle. Before we continued our quest to begin a family Ashley and I had some decisions that had to be made. With both Ashley and I being carriers of CF that gives a 25% chance our child would have CF (one mutated gene or two mutated chromosomes), a 50% chance our child would be a carrier of CF (one mutated chromosomes), and a 25% chance that our child would have two normal chromosomes. We gathered as much information as we could about CF and even talked with a genetic counselor and a genetic doctor at Vanderbilt Children’s Hospital about the specific mutations that our chromosomes have. We also talked with a fertility doctor who presented us with choices that ranged from natural conception to In Vitro Fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD). IVF w/ PGD is creating embryos outside of the womb and then testing each one for a genetic disorder and throwing out the “bad” ones and keeping the “good” ones. After much prayer and support from family and friends our view of the choices were, Trusting Completely in God or allowing the doctors play “god”. Ashley and I got a peace about our decision to Completely Trust in God to provide us with the child that He had chosen for us. Five months after our decision was made Gabrielle was conceived. At this point we had the choice to have testing performed on her while she was in the womb. Since we had already decided to Completely Trust in God we did not have any testing done while Gabrielle was in the womb other than the normal ultrasounds. We decided that the best thing we could do is to have testing performed as soon as possible after she was born.

Fast Forward to February 13, 2009 the day Gabrielle was born. When Gabrielle was born Ashley and I and the doctors began watching for the physical symptoms of CF and we have not seen any as of today. We went ahead and scheduled an appointment with the genetic doctor at Vanderbilt Children’s Hospital to have the testing for CF done when Gabrielle was 13 days old. Two days before the appointment we received a letter from the Tennessee Department of Health concerning the Newborn Screening Test which the state requires, by law, be run on all newborns before they are discharged from the hospital. These test check for metabolic/genetic disorders which can cause severe illness or mental retardation, however when identified early they can be treated. The screening test which is run to identify babies with the potential to have CF came back with “questionable results” for Gabrielle and we were instructed to have the screening test run again when she was two weeks old. Since we already had appointments scheduled blood samples for the Newborn Screenings were collected when she was 13 days old. In addition to the Newborn Screening we also had two test run for CF. The first test which is the standard test for CF is a Sweat Test. This test did not work because she did not have enough sweat. The second test was another blood test, a DNA test looking for the two mutated chromosomes which Ashley and I carry.

On Gabrielle’s three week birthday, March 6th, we received the results from the DNA test. Gabrielle has Cystic Fibrosis. Ashley and I still have the same peace which God gave us before Gabrielle was born. We know that everything that has happened to this point is because God is Completely In Control and that everything that will happen from this point on is because He is Completely In Control.

We have an appointment with Cystic Fibrosis Care Center at Vanderbilt Children’s Hospital on Tuesday, March 10th. At this appointment we will learn more about Gabrielle’s CF and the type of treatment that she will have. The treatments will be lifelong treatments as there is not a cure for CF. There are varying severities of CF and it is dependent on the specific mutations of the chromosomes and the individual who has it. It can range from no symptoms at all to extremely severe. By finding out Gabrielle has CF at this point in her life it will allow the treatments to stay ahead of any problems which she may have.

Right now this is the extent of information that we know. Over the coming days, weeks, months, and years we will be learning as much as we can about CF and how it affects Gabrielle. As time permits we will be adding information about CF to Gabrielle’s website. In addition to sending updates via email we will also post them on her website.

Please be in prayer for Gabrielle, Ashley, and Myself. Also, for the Doctors and all who are involved in caring for Gabrielle.

To God be All the Glory,

Gabrielle, Jeff, and Ashley

http://www.gabrielleelisabeth.com/