“Cystic fibrosis (CF) is a genetic disease that attacks the lungs, pancreas, and many other organs with sticky mucus. People living with cystic fibrosis have always been used to the 6-foot rule and wearing masks to protect themselves from harmful germs that destroy their bodies. We knew none of this before our daughter was diagnosed with CF at 6 days old.
To share our now-6-month-old daughter’s story with cystic fibrosis and the impact it has had on our family and life, I feel I have to start a couple of days before we officially knew because the time between when we knew something was wrong, to when we found out what it was, to now has each come with a different set of emotions, understanding, and acceptance.
We had been home from the hospital for 3 nights and were having our family over for dinner for the first time to meet our newest family member, our sweet tiny baby Shay. She was our second daughter and was born a couple of weeks early and a couple pounds lighter than our first, but she was perfect. Minutes before they arrived, I checked my phone and had missed two calls and a voicemail from Shay’s pediatrician. My heart immediately quickened. Our visit earlier in the week had gone well and we were not expecting any follow-ups. The voicemail said Shay had some results she wanted to go over, and not to be worried.
Before I called back, I told my husband with an unsteady voice, and he reassured me it was nothing. We made the call back together, but the office was closed early. Our family arrived shortly thereafter and I spent the rest of the evening only half present, my mind wandering around every single thing that could possibly be going on (except nothing could have prepared me for what it actually was). I couldn’t shake the phone message. I knew Shay was underweight and she had a few other irregularities that were so different from our first daughter. Most notably, she had bright green stools no one in the hospital could figure out, but they said should regulate in time.
I didn’t sleep at all that night and the next morning at 8 a.m. sharp, I was connected to the nurse on call. Very bluntly, she stated something along the lines of, ‘Shay’s infant panel results came back with possible cystic fibrosis.’ That was it, no insight, no explanation, just a matter-of-fact one-liner. She gave me instructions to schedule a meeting with a pulmonologist at Children’s Hospital and gave me the number. After hanging up, I broke down crying and told my husband the news. I had no idea what Cystic Fibrosis was, what the chances were she actually had it, or what was going to happen, but at the same time, I knew this was life-changing and devastating and I knew it was going to change our family forever.
My husband was shocked and equally unsure of how to handle the news and immediately wanted more answers. He called the office back and asked to speak directly to the doctor. The nurse let him know 90% of the time, these tests are false positives and not to be worried but she would have the doctor call us back when she could. A few minutes later, the nurse phoned us back and asked if we could come in to talk to the doctor in person as soon as possible. At this point, my fears were set. I knew we were about to hear terrible news and I knew there was nothing I could do about it.
We drove to the doctor’s office in complete silence and were taken back to a room with the doctor who sat us down, had a box of tissues out, and told us our daughter had cystic fibrosis. She told us a brief rundown of what the disease was, how there was no cure, a limited life expectancy, and a lot of treatments necessary to treat it. She let us know children diagnosed with CF had a brighter future to look forward to in recent years because of all of the research and new medicines that were coming out, but it would still be a long and difficult journey nonetheless. We both cried uncontrollably, and my mind felt fuzzy and groggy, almost dream-like. I was trying so hard to listen to every word and control my emotions, but I also felt so out of control and so unable to be present it was like I was actually not even in the room.
She went on to explain to us how Shay was diagnosed, that her infant blood panel came back with a flag for CF and after further testing confirmed she had two genes, from both my husband and I, the delta f508 genes, that were the most common CF mutation and solidified Shay’s diagnosis. This was the first time we found out we were carriers of the mutated CF gene, the first time we learned what CF was, and the first time our 6-day-old daughter was officially diagnosed with a non-curable, life-threatening disease. It was hard to accept and hard to breathe. From what the doctor told us it sounded like we would be spending most of Shay’s life getting treatments from the Children’s Hospital. ‘You will get to know her doctors very well,’ was how she explained it.
To be perfectly honest, I don’t even know the name of my own primary care doctor because I go so infrequently. We are not a ‘sick’ family. We have no history of serious illness and have never been confined to a hospital for more than an occasional injury. I have always been semi-against taking antibiotics, and we raised our first daughter to eat the dropped food off the floor if it was only for a few seconds because germ exposure built a stronger immune system. Now we were going to be having a medical team dedicated to helping prolong our daughter’s life and antibiotics were going to become a regular treatment.
After that visit, our next step was to set up a meeting with a pulmonologist (a word I had never used before) and meet Shay’s specialized team. It was Saturday morning and we couldn’t schedule a meeting until Monday. This gave me 2 whole days of googling before I could even schedule an appointment, which did so much more harm than good. Of course, I tried sticking to reputable websites, but reading individual stories was heart-wrenching and the hardest part was continuously seeing the life expectancy of an age close to my own – 37. Only 5 years away, and I felt like my life was only just beginning. We told our immediate family and the support we got was amazing but almost made it harder, everything made it more real, more serious, more heartbreaking.
After meeting with Shay’s new medical team, who will be along with us for the ride until she is 18, we had our work cut out for us. Taking care of our baby by following the outlined treatment plan became my entire world. We needed to learn how to care for our baby in a new way, a much more organized and structured way than I was used to. I also wanted to know everything I possibly could about why we were doing what we were doing and if there was anything more I could do. We met with this same team every 2 weeks for the first couple of months to monitor her progress, and now we meet with them monthly. After a year, we will go every other month and will stay that way for her life.
Basically, Shay requires all of the same things a healthy baby needs, and then some additional care. The main add-ons at the infant stage are her chest physiotherapy, enzymes, salt, and a daily multivitamin. Because cystic fibrosis is a progressive disease, her treatments and medications will grow and change as she gets older and the main goal now is to keep her body growing and her lungs clear from infection. We do 20 minutes of chest physiotherapy (CPT) twice daily which is performed using a rubber ‘cup’ to clap on 12 different spots of her lungs to essentially shake them up, loosen any mucus hanging out, and hope she coughs it up to expel it. CF creates a sticky mucus in the lungs (and many other organs) that allows bacteria and germs to thrive, clinging to the mucus and causing nasty infections that scar and wreak havoc on the lungs. We want to avoid this for as long as possible to let Shay’s lungs grow and develop as healthily as they can.
Additionally, Shay’s pancreas is completely insufficient, so it doesn’t do the job it was designed to do which is break down food and nutrients for the body to absorb. To fix this issue, she takes enzymes before every ‘meal’ (at this point breastfeeding) that helps break down the fats and proteins and allows her to absorb the nutrients and grow. It is truly amazing how much weight she started gaining once she started taking these pills. To take the enzymes, we put them on a little spoon of applesauce. It’s wild to think she has been eating food since she was one week old and she has always done so well with it. CF also makes sweat very salty, so if you would lick someone with CF they would taste noticeably salty (I have tried and it is very true). To combat this, we add salt to Shay’s diet so it replenishes the salt she loses through her sweat. Finally, we give Shay a multivitamin to help increase the lack of nutrients she is able to absorb. Shay has her blood tested every year to see how her nutrient levels are and if we need to make any adjustments. She also has tests done on what her lungs have cultured every few months so if there is a nasty bug in there, we can treat it with the right antibiotics. We are so thankful for this strict regime that helps us keep a watchful eye and ensures Shay is staying as healthy as possible.
One crazy thing about CF is from the outside, they can look 100% perfect, but on the inside, they may be unable to breathe, have an infection that requires multiple rounds of intravenous antibiotics, and constant stomach pain. This ‘invisible illness’ aspect has both pros and cons. It’s helpful to have Shay appear so healthy so she isn’t treated differently when she doesn’t want to be, but it’s difficult when friends and family members look at her as being healthy and then look at you as her caretaker as being overbearing as you are sterilizing and cleaning and performing her treatments when they don’t understand why. This is part of the reason I am so open about Shay’s condition, I believe the more awareness I can spread, the more accepted it will become and the things she has to do differently won’t be seen as a negative, but just as simply a difference.
Although Shay’s journey may sound difficult and painful, there truly have been so many amazing lessons learned, incredible people met, and such an awareness brought to our lives we would never have known before. We are more aware of people who deal with all different kinds of chronic illnesses I never could have understood on this level before Shay and being her caregiver. I have met so many supportive, inspiring, and knowledgeable people while on this journey, mostly through social media, and am forever grateful for their love and strength that helped us get through some of our hardest days. People with CF, mothers, siblings, grandparents to people with CF, they have all opened up their hearts to us and helped us feel a part of such a special community of people that it has undoubtedly changed our lives for the better. I am very committed to helping the CF community, people that suffer from any chronic illness, and their caretakers. I have a new passion for learning how I can best contribute and look forward to continue learning more and doing more as we watch and help Shay thrive and grow.”
This story was submitted to Love What Matters by Courtney Mason of Pittsburgh, PA. You can follow her journey on Instagram and her website. You can also learn about her fundraising site here. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
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