Lucy’s Story: Childhood with Cystic Fibrosis
by: April Milani
I would love to tell you a story about a girl named Lucy. It was my first day watching my boys swim with their new team. Feeling a bit over whelmed I glanced at this cute little girl in this huge pool. I thought to myself oh how sweet. My train of thought was quickly diverted to, “Wow, what strength and determination this tiny body had!” Her endurance to swim like she did was amazing.
As I sat on the bleachers in awe, her mom came and sat next to me. Little did I know at this moment, I was about to meet a family that has a story that needs to be shared, and who better to tell you than her mom?
“You never really know when something is going to happen that changes your life forever. Just after Christmas 2007, my husband and I found out I was pregnant. We were so excited! He knew instantly that if we had a girl, her name should be Lucy. It took me until July 2008, a month before our due date, before I finally agreed. During those months spent debating every name, in every book and website, we had another thought constantly on our minds. Early testing revealed I was a carrier of the most common genetic disease, Cystic Fibrosis (CF). Approximately one in thirty people are carriers but in order for that to cause the disease in a child, both parents have to be carriers. The life expectancy of people with CF is 37 years. Immediately we had a blood tests done on my husband, which revealed he was indeed also a carrier. I spent the entire pregnancy assuring my husband that in my gut, I knew our baby did not have CF. We had the option of an amniocentesis to know immediately if she had it, but opted against it because there was nothing preventative we could do and we would not terminate the pregnancy.
On the day Lucy was born, everything went well. We had a beautiful little newborn with high apgar scores, a healthy appetite, and what I as a neonatal nurse felt, was not a problem in the world. It wasn’t until Lucy was six days old that we received a call from the pediatrician telling us Lucy’s CF DNA Screen came back indicating she had the disease – one genetic mutation from each parent.
What happened next really set the tone for our family. Within a couple hours, we met with the CF physician (Dr. David Ricker, Pediatric Pulmonologist) at Mary Bridge Children’s Hospital. He took what felt like a full hour explaining how CF impacts the lungs and digestive system, what to watch for, how to prevent infections and some specifics about Lucy’s genetic mutations. Both of her mutations are considered rare and they are also both considered severe. We were devastated. We felt so raw. So vulnerable. Then a moment I never expected occurred, Dr. Ricker asked if he could pray with us. He prayed for our sweet baby, Lucia Grace and for us as parents. We wept, as this was so comforting and yet so scary. As we left the beautiful clinic that day, carrying our sweet baby girl, we saw things through different eyes. We looked at the world differently. Instantly, we had a whole new level of respect for parents of children with special needs.
Lucy’s first year was spent enjoying as much time outside as possible. She cried a lot, likely from trouble absorbing food which is common with CF, but the one thing that always calmed Lucy down as an infant was walking outside – in a carrier, a stroller, someone’s arms, it didn’t matter – she just loved the fresh air. We stayed away from large groups of people and public places because we knew the first year of Lucy’s life, her lung development was so important and getting sick could really impact her lifelong. We became meticulous with hand hygiene and so did anyone who came to our home. Really we became neurotic but it was the best thing for Lucy at the time.
As time went on, Lucy became more active and was in to everything. Along with that came catching colds and some pesky germs that are common in kids with CF. To prevent germs from staying in her lungs, we began doing airway clearance techniques to loosen the thick sticky mucous within her lungs so she could cough it up. We were able to get a vibrating vest for Lucy when she was about 2 years old and thankfully it was an instant hit in our house! The alternative was using our hands to “clap” on her back and that is something Lucy has never liked. Our routine became pretty strict and I often had to write out hourly schedules to remember her medications, treatment times and nap times. In whatever downtime we could find, we would research what the CF Foundation (CFF) was doing to help try and cure this disease. We read about how almost all of Lucy’s medications were discovered thanks to funding from the CFF and about how they were investing in amazing new research specific to different genetic mutations. One of the studies they were doing was focused on Lucy’s genetic mutation that comes from my husband’s side of the family! We followed every single article that came out, we were beyond curious wanting to know more about her specific illness and what may be available to help it someday.
Lucy was three years old when we received news that the drug being developed to treat her rare form of CF, was approved by the FDA for older children and adults. We knew clinical trials had only been done on kids age 6 and above and we were so eager for Lucy to reach the age she could take Kalydeco! As a CF mom, I was glued to chat forums and Facebook threads, following the people my age with CF taking Kalydeco, and telling their stories — the results were nothing short of amazing! We kept plugging on with preventative treatments and her concoction of about 28 pills per day and things went well until Christmas time the following year. Lucy was 4 at the time and developed a cold/viral illness that had her pretty sick from both the illness itself and a reaction to a medication that was used to treat her cough. She had blood work drawn and we were shocked to get a call that tests showed she had a serious case of pancreatitis, likely from the hit her body took from the viral illness. This was what it took for us to realize we wanted to push for the new medication as soon as possible and we would try anything to get it for Lucy.
Together with the CF physicians, we won an insurance appeal, and when Lucy was 4 1/2 years old she received her first dose of Kalydeco. Over the two years she’s been on it now, the results have been amazing. First, we saw complete resolution of the pancreatitis. Next, we saw her digestion improve to the point where we decreased and then stopped every single one of her digestive medications.
Amazingly enough, it was on Lucy’s first day of school that I was able to tell the pre-kindergarten teacher that Lucy’s new miraculous medication made it so she did not need any pills at school — what a relief! Lucy’s lung function, strength and stamina have all improved greatly. Most importantly, Lucy’s doctors feel she will live a full life! For her, CF will likely be a lifelong nuisance but not the debilitating, chronic, life shortening disease that so many others are faced with.
Instantly, with Lucy’s diagnosis as a baby, came the realization that our passion in life was to find a cure for Cystic Fibrosis. In addition, being impacted by a child with CF changed the way I care for babies as a Neonatal ICU RN; CF gave me the ability to relate to parents in a whole new way. We have a story to share and it includes the healing that has come with being passionate about doing everything possible to help our child. My husband runs a small family business, he manufactures gourmet olive oil & vinegar and has a cute little shop at Pike Place Market in Seattle, WA. At the market, he often has customers who are in the Seattle area receiving medical care for a variety of reasons. It makes our day when he comes home and shares with me about a customer he was able to relate to in a really special way because of our experiences with Lucy.
So much has happened in Lucy’s life so far. I have loved capturing so many moments that I never want to forget. The early smiles, the messy foods, the first wobbly steps and memorable medical moments like the first time she did breathing treatments with a new device, relating to the staff she loves at the local CF clinic or participating in the Great Strides Walk every year in our local community with the support of over 100 of our friends and family. I feel so blessed as a result of the fullness our life has had since the moment Lucy came into the world.
Thank you Christy for sharing part of your world with us. We are doing this in hopes that we will lift up anyone dealing with the same story or one like it. I feel as a photographer I have a platform to reach people. So here is my way of making the world a more hopeful place.