May is Cystic Fibrosis Month, and by way of spreading awareness of this debilitating and serious illness, I would like to share my family’s story of how two very strange words changed our lives.
Cystic fibrosis (CF for short) is an odd-sounding term. I had never even heard the words before 2007. But that all changed when my daughter London was about 4 months old.
First, let me back up and take you to one day midway through my pregnancy.
I was going to my doctor’s office for an exciting visit: It was ultrasound day! For the first time I was going to catch a glimpse of this tiny human growing inside of me.
Everything was going great, and all of London’s measurements were coming up perfect. But one thing in particular caught the technician by surprise. She told me there was a strange gray area within London’s abdomen. She said sometimes this can be an indicator for something like Down syndrome (we later learned it can be an indicator of cystic fibrosis as well). I talked with the doctor and she told me they would run some tests, but that more than likely everything was fine.
One disease we were concerned about at this appointment was sickle cell disease, since I am a known carrier of that trait. The doctor wanted to make sure my husband wasn’t also a carrier, because it would take a copy of both our genes to conceive a child with sickle cell disease.
It’s something that I find so ironic now. We were testing for one disease that was a distant possibility; meanwhile, the evidence of another one was staring us in the face and no tests were performed.
My doctor thought it was very important to check my husband for this trait, even though sickle cell disease is more commonly found among African Americans. She said that even in the Caucasian population, it is still possible to carry this gene, another thing I found ironic later on.
Other than those first few initial scares, the pregnancy was moving along fine and I forgot all about that gray area.
The day finally arrived! On Dec. 2, we welcomed our beautiful baby girl into the world! Full of joy and wonder, we couldn’t wait to bring her home and start our new lives together!
I remember bringing her to her first pediatrician appointment and being pleased that she was maintaining weight. “All is looking great, Mrs. Fuller,” the pediatrician said. “There was one test that came back from her newborn screenings, but more than likely it’s a false positive. Sometimes we see that on tests in the African American community. No need to worry.”
“Great!” I thought. “Everything is perfect!” But at home, things were far from perfect.
London had a lot of gas and was very colicky. The pediatrician recommended gas drops to add to each bottle. We also began using a pillow prop to elevate her. She was having horrible indigestion, and her spitup would often elicit crying, as if it were burning her throat. She had terrible diaper rash, to the point that her bottom would be bleeding. We tried switching diapers several times and bought the expensive diaper rash cream, but nothing seemed to help.
The scariest part for me was that I could tell she was not gaining weight. She would eat and eat and still seem hungry. I even started solids early, hoping to put more into her system.
At London’s 4-month checkup, I expressed my concerns that she was not gaining weight. She was also very sick with a cold, and she was having a hard time breathing. The doctors immediately put London on a nebulizer and had her doing a treatment of Albuteral (which help treat wheezing and shortness of breath). Weighing in at only 10 lbs (she was 6 lbs when delivered at 36 weeks) she was termed “failure to thrive.”
Our pediatrician told us that she would need to re-examine the so-called “false positive” from London’s newborn screening, and that we would need to do further testing. I was dumbfounded and baffled … what was it that was hurting my baby?
It was cystic fibrosis.
CF is a genetic disease that occurs when two parents are carriers of that gene. The children they conceive will have a 25% chance of inheriting a copy from both parents of these mutated genes. These genes are primarily found among people of European descent.
It turns out that since my race was classified at the hospital as simply “African American,” the signs of cystic fibrosis (based on the gray area we saw on the fetal ultrasound and the newborn screening red flag) were disregarded. The truth is that as a multi-racial individual, my only choices for racial identification (at that time) were black, white, Hispanic, and a few others. There was not even an “other” section.
I am actually German/Armenian/African American. I am a perfect candidate to be a carrier for the CF gene.
CF affects the lungs, pancreas and digestive tract. The defective gene tells the body to produce a thick mucus that lines and coats these parts of the body. Too much mucus in the lungs means all sorts of lung infections, and potentially the need for a lung transplant due to chronic infections. Too much mucus within the digestive system means difficulty digesting and absorbing food and nutrients, resulting in malnutrition.
Lifelong medication is needed to help a person with CF live. Before 1955, children with CF were not expected to survive long enough to begin elementary school. The disease at the time was considered terminal. Since the creation of the Cystic Fibrosis Foundation in 1955, researchers have made great strides in finding treatments for this disease, and thousands upon thousand of children and adults have been able to LIVE and lead a relatively normal life.
London’s CF was discovered by two positive sweat tests when she was 6 months old and genetically confirmed at the age of 1. But it is my personal opinion that if she had been diagnosed at the very beginning, we could have saved her from months of suffering.
Today London is a THRIVING 6-year-old. She LOVES horses, the color pink and Frozen! She is very smart and very compassionate. She is my princess and my miraculous gift from God.
But life with CF has its challenges. Tomorrow, read about how my husband and I tackled London and her brother Nate’s CF diagnosis, and how our family thrives despite it.
To learn more about Cystic Fibrosis and help to raise awareness please visit the Cystic Fibrosis Foundation website.
To learn why the Rose is so important to those with cystic fibrosis, please read about “65 Roses.”