Since the mid-1990s, National Cystic Fibrosis Awareness Month has been observed in May. Cystic Fibrosis (CF) is a rare, genetic disease that we had heard of before but did not think of much until our son was born.
A little before our son’s birth in 2018, we learned about genetic testing. My husband and I were informed that this is standard and would be performed on our newborn right after birth.
Genetic testing is a series of medical tests where newborn babies are screened right at birth for any rare genetic diseases. The tests are sent to a lab, and within a few weeks, you learn if your child has any rare genetic diseases.
I’ll never forget the morning my husband and I got the call that would turn our world as new parents upside down.
As I answered my phone, the voice on the other end was gloomy. The nurse said our son’s results came back, and they found a mutation in one of his CFTR genes, the gene for Cystic Fibrosis, and that they would like to do further screening to see if he had more than one mutated gene. More than one mutation would be an indicator that he has Cystic Fibrosis.
Right away, without knowing what CF was, I began researching online and lost my mind!
Combing through articles on Google only heightened our worry! Articles upon articles on the horror that is Cystic Fibrosis. It was during this time that my husband and I learned that CF is a lung disease that affects more than 30,000 people in the United States. It causes constant lung infections, and it also impacts other organs in the body leading to mucus build-up. There is no known cure, but treatment to help those who have this rare disease live longer. For someone diagnosed, life itself comes with a high risk for infections.
Taking all of this in left us wondering–how is this possible?
Would he be treated differently should the tests show he has Cystic Fibrosis?
What exactly does this mean for us as a family going forward?
We had questions upon questions with few answers, except for being told that further testing was needed, and we would have to wait weeks for the results.
Our little guy was only a few weeks old and had to have what is referred to as a sweat test performed. This type of testing measures the amount of chloride in sweat by stimulating the skin enough to produce a good amount of sweat that can be analyzed. Just the ordeal of having to put our newborn son through this was enough to bring us to tears. We were left feeling hopeless and helpless, yet at the same time, hopeful the results would show that he does not have Cystic Fibrosis.
Within a few weeks, we received the good news that he did not have any other mutations and that he is most likely a carrier. Though our little one will continue to have follow-up appointments to monitor his overall health and growth, we are happy and see every day that our growing son is healthy.
This experience led me to wonder how many people know about CF? If they are anything like me and my husband were, they know very little!
There is so much information available online when it comes to Cystic Fibrosis. Please visit the Cystic Fibrosis Foundation to learn more.