On Aug. 8, 2019, I received a phone call that would forever change my family. My beautiful daughter, Evelyn, was 11 days old when I got a call from her pediatrician that something was flagged as unusual on her newborn screen. He went on to tell me that she had a gene mutation for a genetic disease called cystic fibrosis. Immediately my heart sank into the pit of my stomach. I tried hard to pay attention to what he was saying but had to fight to hear his words over my own thoughts. “Genetic therapy … people are living longer … Great Strides … the outlook is much better than it was 20 years ago” were just some of the things I caught from his phone call. I made the mistake of Googling cystic fibrosis immediately after getting off the phone only to find information that was completely terrifying that I later found out was outdated and not always accurate.
Fast forward a couple weeks, my husband and I packed up Evelyn and our 2-year-old son, Bennett, and drove three hours to our appointment to be introduced to our CF care team. At this appointment, they did a sweat test for both of our children to confirm Evelyn's diagnosis and find out whether Bennett had CF. We each took a child into separate lab rooms for the tests, then joined each other to wait for the results. About an hour or so later, we were greeted again by the pulmonologist and the genetic counselor, and we received another blow. Bennett did in fact have cystic fibrosis, like his sister. How could this be? How did we not know? They went on to tell us that it is very rare, but there are a few children each year whose numbers aren't high enough to flag anything unusual on the newborn screen. I was devastated.
This prompted learning of so many new things. Not only were we getting the hang of having a new baby in the house, but also learning physiotherapy and other routines to try and keep our children as healthy as possible. This left me wanting to know as much as I possibly could about cystic fibrosis and how people managed their lives with it.
CF had been something I remembered hearing about once as a child on a TV show, but to live it is completely different.
I joined a CF mom group on social media, which I found to be incredibly helpful. What better people to lean on and gather information from than other mamas out there advocating like hell to make sure their babies are living their best life? I also was told about the CF Foundation from our CF care team, and they offered a plethora of knowledge and resources for people just like me. While on the Foundation's website, I learned about Great Strides annual fundraising events. I immediately joined this event and was contacted by one of the sweetest people from our local CF chapter.
After a few months had passed and the dust had settled, we were getting comfortable in what was now our family's “new normal.” We had another appointment with our CF care team. At this point I was certain we were done with getting any more unwelcome surprises, and boom, our genetic counselor met with us once more to explain that my husband, Josh, also had cystic fibrosis.
I was speechless. I was now a woman who had the three most important people in her entire world diagnosed with cystic fibrosis.
These results were concluded from a routine genetic testing we both opted to do at a prior appointment. After these results, we were once again seeing the faces we had grown familiar with in the lab where sweat tests were done -- only this time it was for my husband's sweat test. His results came back in the 30s indicating a borderline result. The genetic counselor went on to draw out a very complex map of his genetics for us, one that I still don't understand regardless of how many times it has been explained to me.
Josh followed up with an adult CF center a little closer to home. At his first appointment he was greeted by everyone on his team (genetic counselor, pulmonologist, social worker, nurses, etc.). Thankfully, his culture, lung function tests, X-rays, and other testing came back in the clear and was relatively healthy. Aside from having thicker excretions during times of sickness, Josh is a fairly healthy adult, and his care team didn't recommend any sort of daily treatments or medications at this time. He will continue to see his care team on an as-needed basis in the event more interventions are needed.
Therefore, I have spent more time focused on being a CF parent than a CF spouse. Throughout my continued journey as a CF mama, I have always found my greatest tool to be knowledge. What can I learn, and what can I do for my family to help them as much as possible? Both of our children are taking Kalydeco® to help treat their cystic fibrosis. During the process of starting this medication, Evelyn had the opportunity to participate in a study in Philadelphia where they were tracking the effects of Kalydeco on growth and nutrition.
Because Bennett and Evelyn were fortunate enough to start Kalydeco at a young age, we're hopeful it will prevent or delay the onset of persistent coughing and other inevitable side effects of CF. The biggest change I noticed and am very grateful for is the improved course of illnesses throughout the year. When Bennett started daycare before his diagnosis, he suffered from croup, pneumonia, ear infections, colds, etc. Since both children's diagnoses and starting proper interventions, their illnesses have been minimal and no more than the typical child.
Now, every month or so, I see posts on my social media -- new moms looking for guidance, advice, someone to vent to, etc. I can't help but feel that heartache for them, because it's the exact thing I was feeling two years ago. My advice is always the same: First and foremost, enjoy your new, beautiful baby. Although he or she has CF, that isn't all there is. It is a scary time, but if you're anything like me you will quickly get to know your village. Those are your people -- lean on them in times of need. Educate and advocate as much as you possibly can, and remember no one knows your child more than you do. Trust your mom gut.
From the beginning of my mom journey I have always wanted one thing -- for my children to live their lives to the fullest without feeling weighed down by having CF. I don't want cystic fibrosis to define them, and it doesn't.
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