Did you know there are newborn screening tests for cystic fibrosis? Every baby is screened, but it’s not always that simple.
Our first son was born three weeks early, but he was healthy. Our second son, Easton, was born (early again), but healthy -- or so we thought. A few days after our discharge from the hospital, we received a phone call from his pediatrician’s office. I don’t remember exactly what was said because I froze. We were at a local photographer’s studio having his newborn pictures taken when the nurse called. She informed me that his newborn screening showed he was a carrier of a gene that can cause cystic fibrosis. However, he would need further testing to either rule out or confirm a cystic fibrosis diagnosis.
After multiple phone calls with numerous people to coordinate schedules, our newborn was scheduled for a sweat test. A sweat test measures the amount of chloride in the sweat and is considered the gold standard for diagnosing cystic fibrosis.
We arrived at the closest cystic fibrosis center for Easton’s sweat test appointment and were informed that we would receive same-day results. The sweat test itself is a painless test, but it was very time consuming and emotionally exhausting for us as parents. After Easton’s sweat had been collected, it was time for us to relax (if that is such a thing) while waiting for the results. The genetic counselor informed us we would be paged as soon as she received the results from the lab; they were hoping this would take about an hour.
With Easton comfortably sleeping in the stroller, my husband, Gerrad, and I headed to the cafeteria to grab some lunch while we waited. As soon as the pager lit up, we headed back upstairs preparing ourselves for the results we were about to receive.
Sitting down with the genetic counselor was terrifying. Here we were, about to find out if our newborn baby, who seemed to be nothing but healthy, had a life-changing genetic disease. Before spilling Easton’s results, she reviewed with us a scale of numbers, explaining to us where a cystic fibrosis diagnosis would fall. She explained to us that a sweat chloride number less than 30 typically means a cystic fibrosis diagnosis is unlikely; a number between 30 and 59, a CF diagnosis is possible; and anything measuring greater than 60, a CF diagnosis is likely. Easton’s sweat chloride was in that gray area where a CF diagnosis is possible.
After an emotionally exhausting day, we left the clinic without ruling out or confirming a diagnosis. The pulmonologist suggested we schedule another sweat test for Easton in 1-2 months. He explained there are reasons why sweat chloride could be elevated unrelated to cystic fibrosis and that is why another test would be performed.
Being the impatient new mom and wanting to know how I could best help my newborn baby, I scheduled the next sweat test for one month after the first. Gerrad, Easton, and I arrived at the clinic feeling confident we would get answers on that day, however, Easton’s sweat chloride levels remained the same as his previous test. To say we were disappointed is an understatement. As much as we hoped and prayed for our baby to not have CF, we had pits in our stomachs that our newborn baby was going to be diagnosed with CF. Leaving with no results, again, was defeating. We just wanted to know if there was anything we should be doing for him.
The pediatric pulmonologist working with Easton ordered a blood DNA test to be completed so they could determine if Easton had any other CF-causing gene mutations. We knew he had one mutation due to the newborn screening results. I was adamant that we go to the lab on that day of his second sweat test and have blood drawn. Gerrad and I were informed that a blood DNA test is something that needs to be preauthorized by your insurance company prior to having the blood drawn.
Again, we drove our hour-and-a-half home with no answers. The doctor informed us that we were doing everything we needed to be doing to keep Easton healthy during this extra-long testing process.
A few days later, the doctor called. He suggested adding Easton to the Cystic Fibrosis Foundation Patient Registry. He told us he had a feeling that Easton was going to be diagnosed with CF and if he were added to the registry, he could be part of a research study where the blood DNA test would be covered by the research program. Sold. I wanted answers as fast as possible, and this seemed like a much better way than waiting for our insurance company to authorize the blood draw and DNA test.
Ten days later, Easton was accepted into the research study, and we were headed back to the clinic in Madison for the dreaded blood draw. After multiple attempts by multiple phlebotomists, I was in tears and stressed. I wanted nothing more than for this to work today, but no one was able to get blood from Easton. It was the end of the day, and many staff members were getting ready to leave. Thank goodness for the amazing social worker in the CF clinic who worked his tail off and got the ultrasound team to meet us in the lab to draw Easton’s blood with the assistance of the ultrasound machine. Dad took the lead on this last attempt on the blood draw, while I sat in the hallway and took a break. Success! The ultrasound team completed their task, and we were on our way home.
The doctor had informed us that Easton’s blood samples were being sent off to Johns Hopkins University in Maryland for analysis and hearing back from this team could take some time. There are more than 1,700 mutations in the CFTR gene that can cause cystic fibrosis. And, they would need time to check for all of them.
So, we waited and waited and waited some more.
It took 75 days to hear back from Johns Hopkins University. I received the call from our doctor while working, but made myself available immediately, as I knew what the phone call was about.
I needed to know. We had waited so long for this phone call. I knew I wanted to take the call, but I also knew I was likely to receive news I was dreading; but I still had a sliver of hope that all of this was for nothing. He informed me that they did in fact find another gene mutation that is CF-causing.
He officially diagnosed Easton with cystic fibrosis. As much as we prepared ourselves during the previous five months, the official diagnosis was still a punch in the gut.
This was truly a long haul and quite emotional, but we had the best family and friends praying for us and standing with us every step of the way.
Today, Easton is a very healthy 7 year old who has cystic fibrosis, but he will never let that stop him. He is very active – playing baseball, football, hockey, and basketball. He loves spending time outdoors with his two brothers, Cooper and Krew. If you passed him on the street, you would have no idea he is fighting CF every single day.
Fast forward to today -- Krew, our 20-month-old son, has also been diagnosed with CF, however, his diagnosis was much easier. Because we already knew the two CF-causing mutations Easton had, the newborn screening lab knew exactly what to look for. Krew’s diagnosis came just a few days after he was born with the rest of his newborn screening results. Krew is a very active toddler who keeps us on our toes but humbles us each and every day.
This CF community that we were warmly welcomed into is the best community you never want to be a part of. If I have learned anything that I can pass along to other CF families with young children, advocate. Advocate for your child. Advocate for the CF community. Advocate for yourself as a caregiver.
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