I remember the morning I received the phone call that changed everything however. Just as I had finished feeding Kaelyn, the phone rang and it was the doctor with the results from her newborn screening. He told me all the tests came back negative, except for the Cystic Fibrosis screen. He said that the screening had detected that Kaelyn had 1 copy of the defective CF gene. "Cystic Fibrosis?? CF??" I had no idea what this even meant. I interrupted him to ask what exactly Cystic Fibrosis was - I had no clue at the time! He vaguely explained it to me, and mentioned that she needs to inherit 2 copies of the defective CF gene to actually have CF, which the newborn screening was unable to tell us this. The doc told me that more than likely Kaelyn was just a CF carrier, meaning that she would have one copy of the gene, and possibly not actually have the CF disease. Since it is a genetic recessive disease, a copy of the defective gene needs to be inherited from both parents. Further testing was requested at Children's Hospital to determine if the disease was present.
As I hung up the phone, I still felt confused. I knew nothing about Cystic Fibrosis and had never even heard of it until this day. I called Chad and passed the news to him since he was back at work, then our researching began. Both of us have a need to know everything, and when we don't know, we're researching and looking things up, that's just how we are! I started reading about how it was a chronic lung disease, it often affected other organs such as the pancreas, coughing, trouble breathing, lung infections, etc. I skimmed through some more, before coming to the worst news - "There is currently NO CURE for CF. Average life expectancy is approximately 35 years." My heart sank, but I still tried to remain hopeful. Afterall, the doctor told me that only 1 mutated copy was found in the screening, so she might only be a carrier. We prayed that was the case.
13 days after birth, we were sitting in a small room at Children's Hospital in the pulmonology department waiting for Kaelyn to receive her sweat test. This test was used to measure the amount of sodium and chloride in Kaelyn's sweat. I remember thinking to myself to lighten the mood, "Do babies this little even sweat yet?" Normally sweat on the skin's surface contains very little sodium and chloride, but people with CF have increased amounts in their sweat. This is why one of the symptoms of CF is very salty tasting skin. I soon learned that Kaelyn would be given medicine to help her produce sweat so it could be collected for testing.
Once the test was over, the famous waiting game that's usually played at any doctor/hospital visit began. We were allowed to leave for lunch since the results take up to an hour to come back. I was getting more and more nervous once the test was over, and i could feel my anxiety kicking in since I wasn't very hungry. When we got back, we waited a little longer, and that's when we met Dr. Kirland who was a pulmonologist. Then the news came - Kaelyn's numbers produced from the sweat test came back as just slightly over the borderline range and he told us that he was 99.9% sure she had Cystic Fibrosis. We were crushed! Tears started to stream from our eyes and every time I looked down at my precious baby girl, the crying got more intense. I didn't hear much more of anything else he was saying. I kept thinking about what I had read earlier, "There is currently NO CURE for CF and the average life expectancy is 35."
Dr. Kirland then told us that he wanted to perform the test once more when she was slightly older, because although they collected enough sweat to get results, it was a very minimal amount and he wanted to be 100% certain of his diagnosis. We were still heartbroken. "99.9% sure" he told us, and yes some times results are wrong, but it wasn't looking too good for our Kaelyn.
I remember going through a variety of emotions. First, and most obvious, sadness. I cried every time I had to talk about it, or tell family and friends the news. I then became angry and disappointed. I knew that because the disease was genetic, there was nothing we could have done differently to prevent it. But I felt angry because it seemed so unfair. A strong feeling of disbelief stuck around for a while too. We just couldn't believe the news we got. We never even knew what CF was, and now we had a child with it. As far as we can trace, neither one of us had any family history of Cystic Fibrosis, and no known family members who were aware they were CF carriers.
A second sweat test a few weeks later confirmed Dr. Kirland's diagnosis... Kaelyn had CF. We spent 7 hours at the hospital that day. We met our CF care family and the people who would help us through everything. We met at least a half dozen people besides Dr. Kirland - from nurses, to a social worker, to people who immediately started showing us how to care for Kaelyn and how to begin the road to keeping her healthy. It was all so overwhelming, and it didn't stop there. Every 2 weeks we needed to be back at the CF clinic in the hospital. Afterall, knowledge of the disease and how to keep Kaelyn healthy is key to beating this disease every day even though there is no cure right now. We learned all about the history of CF, the advancements in CF drugs, and breathing treatments to keep the lungs clear.
Some people might wonder why I didn't start this blog 3 years ago when Kaelyn was born? Why haven't we talked much about it? I feel that almost 3 years later after learning of our daughter's diagnosis that I can finally talk about it in a more respectable manner without becoming overwhelmed with emotion. I also feel like the knowledge I've gained about the disease, and about the help and support that's out there is stronger than ever. I finally feel that desire to educate people about CF and get people involved in participating in the different ways there are to raise money for the CF Foundation.
Research is the key to finding a cure. However, it is quite expensive. We are doing as much as we can to help the Cystic Fibrosis Foundation find a cure and improve the quality of life not only for Kaelyn, but for all who are affected by this horrible disease. I will do whatever it takes to improve the quality of life for Kaelyn for the rest of my life, and Chad and I will never give up hope that a cure is in the near future! Our daughter is a true blessing to us and to everyone's life who she has had the opportunity to touch since the day she was born. We will never give up, and we hope that one day CF will equal Cure Found!
