I am married to husband of 10+ years and we have two beautiful little girls. Both of our daughters were born with Cystic Fibrosis and were diagnosed within 2 weeks after birth. This is our story…
My husband and I started dating our junior year in high school, attended rival universities, and married the summer after we graduated college. We bought a house and started our careers – he as a mechanical engineer, I as a pediatric nurse. Ten months into our marriage, I was in a terrible car accident. I spent months in a wheelchair and 3 years going through physical therapy and multiple surgeries. Our lives were literally turned upside down for a long time and we thought we would never see the other side of that dark tunnel. However, God was good and saw us through. It wasn’t an easy journey and I suffered a lot physically and emotionally but I found a strength, resilience, and determination inside of me that I never knew existed. My relationship with God grew even stronger through those struggles. It is now confirming of my faith to look back on how God was working through that situation and see the evidence of His goodness and faithfulness. Both of my legs were so severely broken, and at one point we didn’t know if I would ever walk again. But he answered each one of my desperate prayers and eventually brought me to this place of complete healing where my physical injuries no longer limit me or cause me pain. I share that because I believe that experience has greatly shaped who I am today and has helped me cope with the suffering I have faced following my girls’ diagnoses.
Despite the 3 year recovery following my accident, the Lord gave Nathan and I both the opportunity to continue our education. In 2007, I returned for my Masters in Nursing in the Pediatric Nurse Practitioner program at UNC-Chapel Hill and Nathan followed a year later in the MBA program, also at UNC. I began practicing as a PNP in 2010 and Nathan started his career in Business Administration the same year.
We had hoped to start a family after we finished graduate school and our plans came to fruition when I became pregnant the summer following Nathan’s graduation. Our daughter, Kelsie, was born in 2011 and instantly brought an immense amount of love and joy into our lives.
It was an uncomplicated pregnancy, but because she was breech, she had to be delivered via C-section. She appeared perfectly healthy but her initial assessment showed a problem with her hips and she was diagnosed with developmental hip dysplasia (DDH). Within 4 hours after she born, her fragile little body was put in a full body “pavlik harness” to keep her hips spread out, allowing the joint capsule to develop. She had to wear it 24/7 for seven weeks, and it wasn’t to be removed for changing diapers, clothing, or bathing. This was such an unanticipated and extremely frustrating experience for me and it really made those first few weeks caring for a newborn even more challenging. But just as soon as I felt I had a handle of this unexpected diagnosis, I received a phone call with much more devastating news.
Her pediatrician called one Friday afternoon, on her 2 week birthday, and informed me that her newborn screening test had returned positive for Cystic Fibrosis. It confirmed that she had 2 copies of the Delta F508 mutation, which is the most common mutation that causes this disease. As a pediatric nurse, I had taken care of children with CF and knew how devastating it could be. When she asked if I had any questions, I just said through my broken, quivering voice, “no, I already know too much.” We hung up the phone and I sat completely stunned but shattered. I could NOT believe what she had just said. MY daughter, the tiny baby lying asleep in my arms, had CYSTIC FIBROSIS!? What!? No one in our family had this. My husband and I had always been perfectly healthy. We declined the testing for this during pregnancy because there was no way we needed to worry about THAT. That is the kind of thing that only happens to other people. Not us. Seriously?…it couldn’t be true. But it was. In a matter of seconds, our world was rocked.
The first thing I did was call my husband. He dropped everything at work and within a minute was rushing out of his office headed home. He was frantically trying to calm me down and make sense of what I was saying but it wasn’t long before he was in tears and disbelief as well. The second thing I did was call friends to ask for immediate and desperate prayer. We wanted the outcome to change. We wanted it to be a mistake and I think we even had a sliver of hope that it was.
A week later we walked into the clinic at UNC Hospital for her scheduled sweat test (the gold standard for diagnosing CF), and following the procedure, we met with the doctors and received confirmation that despite all of our prayers of desperation, she did in fact have Cystic Fibrosis. We were educated on all areas of this complex disease and were told “CF is not a terminal illness, but it is a life-shortening illness.” The life expectancy at the time was in the mid-30s. That was a hard pill to swallow. I couldn’t even think about what her 20s and 30s might look like without crying. I also kept imagining that her childhood would be full of sickness and hospital stays and that her quality of life would be limited by this disease. But at some point, I started to shift my thinking. I don’t know how long it took for the shock and the hurt to wear off but, little by little, bit by bit, we started to feel better.
We soon came to realize that our daughter was not sick. She was not a china doll and she did not need to be kept in a bubble or treated any differently. I started focusing on how I could help prevent the disease from robbing her life of joy and became determined to give her a happy and “normal” childhood while still maintaining her optimal health. Even though the future seemed so bleak and uncertain to me at the time, I knew we would find a way to get through it. Honestly, it was my faith in God that gave me the greatest hope.
Now fast forward a couple of wonderful years with Kelsie to the point we began the discussion of how to grow our family. This was something in the back of our minds for a while but it was a hard subject, so we often put off talking about it. We knew from the time of Kelsie’s diagnosis that there would be a 25% chance of having another child with CF with each subsequent pregnancy. We were told about something called “IVF with PGD (pre-genetic diagnosis)” as early as my post-partum appointment but knew we needed more information before we considered this option. So we set up an appointment with a fertility specialist to learn more. Without going into too much detail, this basically involved retrieval of my eggs, fertilizing with my husbands sperm in a lab, then sending samples of those that fertilized for further testing at a genetics lab. Those without CF would then be transferred with hopes of producing a pregnancy.
We waffled on how we felt about doing this on many levels but after much prayer and counsel with our pastor and other believers, we decided we would try this option. We desperately wanted another child of our own and a biological sibling for Kelsie but were afraid of the risk of having another with Cystic Fibrosis if we tried naturally.
We spent ~ 2 years down the road towards IVF but eventually just walked away. There were so many delays and hiccups along the way and it was an extremely overwhelming, frustrating, and emotional experience. I did go through one IVF cycle and it was unsuccessful due to a very unusual and unexpected occurrence. I was devastated. I initially felt ready to go for it again but when it came time to start another cycle, I started feeling unsettled and was no longer at peace with this decision. I started to wonder if God was trying to tell us something through all the mishaps we had experienced to that point.
The thought of having another child with CF was daunting. We knew the chance if we conceived naturally. But after 2 years of trying to control this outcome, I came to a place of total surrender where I felt we should just leave it up to the Lord. This required an immense amount of faith and trust but when I finally got to that point, I felt a peace wash over me like I hadn’t felt before. My husband didn’t feel the same way initially but after another month in prayer over this decision we both came to the same conclusion – we were going to try to conceive naturally. Honestly, I whole-heartedly believed that this new-found peace in my heart meant that God was going to answer our prayer by giving us a baby unaffected by this disease. I knew there was still a chance we would have another baby with CF and was “okay” taking that risk. I just really didn’t think it would happen again. Statistically, there were much greater odds that she wouldn’t be affected and my faith was just too strong to believe it. I still tried to think ahead to that possibility and told myself that everything would be fine either way. My oldest had managed to stay healthy despite the disease and she was still a happy and thriving kid. We already knew all the medicines and managing this chronic disease was already second nature to us. If the next baby ended up with CF, then it would obviously just be part of God’s plan and acceptance would come quicker the 2nd time around. Right? Boy was I in for a big surprise!
In January of 2015, I found out I was pregnant. We were SO excited! Big sister had begged and asked God for a little sister for a long time and it was finally happening. It was one of the most joyful 9 months of my life. I felt great! We decided not to do genetic testing during pregnancy because we knew were having her either way and we felt that knowing early would only cause us more stress if it was positive. I was so passionately optimistic and sure that this child was NOT going to have CF. Family and friends seemed to agree. “No, I just don’t think she has it.” “I’m not worried at all.” “Nah, she will be fine.” “No need to worry about it, she doesn’t have it.” “There’s such a greater chance that she doesn’t”. I know everyone was just encouraging us to stay positive. It seemed that everything I heard and I everything I felt in my heart confirmed our decision not to do IVF and our faith that God would not allow this to happen to us again.
Mackenzie Grace came into this world on 9/3/15. On 9/11, our beloved pediatrician called and gave us the results…again. And the test was positive…again. She had Cystic Fibrosis, just like her sister. The news hit us HARD! I can hardly think back to that moment without crying. My heart still remembers exactly how she said it, exactly how deep my chest ached, how my stomach turned inside out and how my eyes flooded with big, fat, burning tears. We were in our van, in a parking lot, on the way home from her newborn photo shoot. She and her big sister were in the back seat. My husband and I hung up the phone and sobbed violently, trying our hardest to shield our oldest from hearing us or understanding why we were so upset.
Not only were we devastated that another precious child would have to endure the burden of this life-long disease, but we were also so let down. I have never felt so disappointed, heart broken, depressed, and angry in my entire life. Feeling so sure of something that doesn’t turn out as you expect does something painful to your soul. I did not want to relive this all over again.
But here we are. This is the outcome and there is nothing we can do to change it. Despite the presence of this disease, we still have two wonderful daughters who are happy and healthy and I wouldn’t trade them for anything! I am so incredibly thankful for them and for the lives we have been blessed with. I will never understand why they have to be afflicted with this disease their entire lives but the reality is, I don’t need to understand. I don’t believe I will ever know a specific reason. I just know they have a purpose in this life, they were meant to be here, and they were meant to be my children. They are the greatest gifts I could have ever received. I have the privilege of loving them infinitely and getting to experience the joys of motherhood by watching them grow and develop into who God created them to be. I get to see them reach new milestones, see the wonder in their eyes when they experience something new, celebrate their accomplishments, and just be by their side teaching them to love life and find joy in everything they do. And even though it hasn’t been easy, and even though I would do anything I could to take Cystic Fibrosis from my children, I am still thankful for this life and I am thankful for the story that we continue to unfold.