‘I licked her skin to see if it was salty. I cried, thinking my tiny baby was going to die before 20.’: First-time mom to daughter with cystic fibrosis says ‘she’s THRIVING’

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“I am a first-time young mom to a 1-year-old with cystic fibrosis, and this is the story of her CF diagnosis and how it has changed our lives so far. It was 2 weeks after our beautiful baby girl, Shiloh, was born. She was a pandemic baby, born in April of 2020, the height of the first wave of COVID-19 here in Ontario. It was one of the first days my husband was back to work, and I was alone with my newborn. My phone rang and I saw it was from my midwife, so I picked it up. I don’t remember the exact words of the conversation but basically, she told me the results of Shiloh’s newborn screening had come back abnormal, and they had done further DNA testing to confirm it was likely she had cystic fibrosis.

Courtesy of Isabelle

I didn’t know a lot about CF, but from what I remembered from high school science class, it was serious and the life expectancy was significantly shorter than the average. I asked her how likely is ‘likely,’ and she told me the DNA test picked up two mutations to the CFTR gene, making it a 99.9% probability she would have CF.

My midwife booked a diagnostic test to be done at our local hospital and gave me instructions to book a call with a geneticist via Zoom, who would further explain to us what cystic fibrosis was and what our next steps were. I was kind of stunned after I hung up. I called my husband to let him know and texted some family members to see if they knew of a history of CF in either of our families.

Courtesy of Isabelle

I knew I shouldn’t Google. But part of me argued since the geneticist would be talking to us the next day, I should come to the conversation at least somewhat educated. So, I Googled. I remember exhausting the pages on Google, reading the basic information, and also delving deep into some personal stories. The bad seemed to outweigh the good. Hospital stays, lung transplants, endless medications, sick all the time, infections, hours of physiotherapy every day, hours spent eating to gain as much weight as possible, constant sanitization, isolation from others. CF was an aggressive, degenerative, chronic, and terminal illness.

Courtesy of Isabelle

And what if I had another baby and they had CF as well? Our chances of having another child with CF is one in four. My dream of having a big family seemed to have been snatched away. I’m a low-energy person. How could I ever handle two or more kids with high medical needs? I felt as if I was being tied down, like I had to live near a hospital my whole life. We were not a family who relied on the medical system for much of anything. Doctors, hospitals, and anything medical stressed me out, and since I could avoid those things, I did! I felt like we couldn’t up and move to wherever we wanted to anymore.

Courtesy of Isabelle

I called my husband and started irrationally bargaining with him. I asked him to promise me if Shiloh had CF we could homeschool her and go on a lot of vacations. And he bargained back, saying I had to stop fighting to breastfeed when it clearly wasn’t working. We had bigger issues now. He also told me we would get a house cleaner if I ever felt overwhelmed. It was silly, really, but I guess we were trying to control the things we could control.

I knew in my heart Shiloh had CF. I even licked her skin to see if it was salty (one of the only marker signs at this age). I spent the rest of the day crying, looking at my tiny baby, and thinking she was going to have a horrible life and die before she turned 20.

Courtesy of Isabelle

The next day, my husband stayed home from work and we had our call with the geneticist. She gave us a brief overview of what CF was and then explained what we could expect from our diagnostic test the following week. The diagnostic test was only to make it official. It would be a miracle if she did not have CF. The days we waited for Shiloh’s diagnostic test were weird. Our families were holding out hope for the 1%—the chance something had gotten messed up in the testing. Meanwhile, we were waiting, not knowing yet what the practical side of all this was and how it would affect our future.

The next week, we brought Shiloh to the children’s hospital for her sweat test, where they collect a sweat sample and test its salt levels. We also all got bloodwork done to see which mutation had come from which parent.

Courtesy of Isabelle

This whole time, it was like we had already come to terms with CF. It was what it was. Thinking about it wouldn’t change anything. The first day we got the news about the newborn screening was hard. It was the one and only day I have cried about CF. It was what it was and we were ‘doing it.’ There was no choice. We then went to go meet our new CF team in the same hospital. Shiloh has a head doctor, nurse coordinator, respiratory therapist, dietician, social worker, and child-life specialist. They were all so friendly and they gushed over how beautiful Shiloh was. When we got down to business, the first thing they told us was, ‘Don’t believe anything you read online.’

Courtesy of Isabelle

They explained CF isn’t what it once was. The life expectancy is high and rising even higher. There are amazing new treatment options (like Trikafta) on the horizon Shiloh would qualify for, which would drastically improve her health when it starts to deteriorate. They explained how starting proactive treatment from birth is the most effective way to deal with CF. These kids are doing so much better than those who were diagnosed at 2+ years of age. The team offered us endless positive encouragement, and we felt happier and more relieved with every word. Then they dove into the practical side. CF would be a time-consuming disease to control, and it was very important we implement a few things right away. They told us we had a healthy baby, and it was our job to keep her this way as long as possible.

Courtesy of Isabelle

Chest Physiotherapy: We would have to ‘hit’ Shiloh with cupping devices on all of her lung fields to break up the sticky mucus in her lungs. Everyone has mucus but those with CF have stickier mucus, which is much harder to clear. It’s also a great breeding ground for lung infections. Each chest physio session was preceded by a nebulizer of saline and Ventolin to help open up the airways and start working on the mucus in the lungs. We started with only a few minutes of physio per day but worked up to 2 hours by the time Shiloh was 6 months. 2 hours (one in the morning and one at night) is pretty standard, and this is as high as we’ll be going unless she is sick.

Courtesy of Isabelle

Salt and Multivitamins: We added salt and multivitamins to her bottles right away. It turned out to be a blessing breastfeeding hadn’t worked out. It was definitely easier to be able to put everything she needed in a bottle! Shiloh needs a lot of salt in her diet to replenish all the salt coming out in her sweat. She needs the vitamins because her body does not get the nutrients out of her food as an average baby would.

Enzymes: Shiloh is pancreatic insufficient, like the majority of those with CF are. She has a much harder time breaking fats and proteins and absorbing the nutrients she needs to grow. Taking enzymes on a spoon with applesauce before every meal helps her to gain weight.

Courtesy of Isabelle

Our CF team filled us with so much hope and excitement for the future. Fast forward through little weight gain, feeding aversion, reflux, and enlisting the help of a dietician who came to our house regularly, Shiloh just turned one year old and is thriving in every way. Her weight is at the 85% percentile, and she has had no lung infections, no cough, and not even the common cold. She didn’t even get COVID when everyone around her had it. We are so thankful to have had a strong first year. CF is not very bad at this age because it is a degenerative disease, but there are still plenty of children who experience one or more hospital stays in their first year of life for weight issues or lung infections.

Courtesy of Isabelle

I am in a good place. The only tears I have cried since the first phone call have been emotional, happy tears. When I see adults in the CF community who are thriving, I know my baby will have a great life. We’ve adopted the motto of controlling what we can control, letting go of what we can’t control, and remembering who is in control. And this is our God, who never gives us more than we can handle. He made Shiloh beautifully in His image, and I know He will cause her to be a blessing to many. Her life is such a gift.

Courtesy of Isabelle

We still want more kids! An internet friend with CF said, ‘The best gift God ever gave me was a sister with CF.’ Someone to go through life with you and who understands everything you’re going through. CF can be isolating because you cannot usually be around others who have it. Those with CF can give each other nasty lung infections. This rule is often not applied to siblings, who do not want to sacrifice their humanity for a hypothetical risk. My husband actually said out loud, ‘We need to have another baby with CF for Shiloh’s sake.’ Obviously, it’s not ideal, but if it happens I can’t imagine myself being sad.

Courtesy of Isabelle

Shiloh will grow up strong and resilient. She may have CF, but CF doesn’t have her. We will keep fighting until CF stands for ‘cure found.’ The future is so very bright!”

Courtesy of Isabelle

This story was submitted to Love What Mattersby Isabelle. You can follow their journey on Instagram. 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.

Read more stories from cystic fibrosis warriors:

‘I don’t want to do this anymore. It’s too hard!’ I coughed up blood. I knew I couldn’t survive another.’: Woman with Cystic Fibrosis welcomes two miracle babies, ‘Every year is a gift’

‘You need to prepare your son.’ I wasn’t ready for that. I fought attached to an IV pole. I wanted to LIVE.’: Mom with Cystic Fibrosis receives miracle drug, ‘We won the life lottery’

‘I probably won’t outlive my sister or may not be able to see my children grow up. ‘Do you feel like a burden?’—Yes, I do’: Woman with Cystic Fibrosis details journey, ‘If you search for the silver living, you’ll always find it’

‘You won’t live past 15 years old.’ I never stopped believing in myself.’: Man with cystic fibrosis urges ‘don’t take your time on this earth for granted’

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