Our son David (Davey, as we lovingly call him) was born in April and soon after we found out he was diagnosed with Cystic Fibrosis (CF).
On my (Emily) 20 week ultrasound we were sent for further in-depth ultrasounds due to the doctor finding an echogenic bowel. His bowels were brighter than they should be on the scan and that's a common issue with CF. After further testing it was determined that myself and Josh are both CF carriers, meaning there was a 25% chance that our son could have CF, and the same chance goes for all of our future children.
I refused to have an amniocentisis done, but once he was born we chose to take some of his cord blood to run a genetic panel that showed his mutations. (To have CF, they have to have a copy of each of our faulty genes. One copy of mine, and one copy of Josh's.) His newborn screening came back abnormal, his genetic testing showed he had both genes, and later a sweat test was done to confirm the diagnosis.
In April/May with the pandemic, our appointments were all virtual. We never saw a doctor until June, and as soon as we walked into the doctors office, Daveys doctor knew something was wrong. We had never actually heard back about any of his results (lots of miscommunication between Avera/Sanford/Brookings Hospital) so we didnt know how serious it all was. She ordered some bloodwork and an hour later we were told to go down to Sioux Falls ASAP where Davey was admitted to the Sanford childrens hospital. He was only 8 lbs (6.2 at birth) and was in the "failure to thrive" category. It was a rough, emotional couple of days in the hospital, but the childrens hospital is the only CF clinic in South Dakota so in a way it was a blessing to get to meet all of his caregivers and doctors that we see every 6 weeks-3 months! He had a blood transfusion and was monitored and we were released within 3 days.
Davey has been slowly progressing and gaining weight, and thats all we can do for now. He is on multiple medications each day, chest physical therapy 2x daily, salt supplementation, and needs to take enzymes to digest his food as his pancreas (the organ that makes enzymes to help break down/absorb food) is also affected by his CF.
There is currently no cure for CF, but we are hopeful that some day we can say otherwise!
For more information about Davey's disease, visit cff.org
From cff.org's website: Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.
In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride -- a component of salt -- to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.
In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing contact with germs is a top concern for people with CF.
In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease.