Here is a little about what my life entails because of cystic fibrosis (CF).
First off, cystic fibrosis is a genetic disease that affects the lungs, sinuses, digestive system, kidneys, liver, reproductive system, bone density and many other organs and bodily functions. Cystic fibrosis is the most common fatal genetic disease in the United States and has been since I was born.
My parents are both carriers of the CF gene, meaning there was a one-in-four chance I would have the disease. My older sister Wendy faced the same odds. Both of us had the disease and sadly Wendy lost her life after only 16 days. She and I never met. The Wish for Wendy Foundation was started in her memory.
I was diagnosed at birth because my sister had the disease three years earlier and I had a common CF symptom known as meconium ileus or a blockage in my intestines.
I do an hour of treatments between three different nebulizers in the morning along with my physiotherapy vest. I do this for both my lungs and my sinuses. I also do a sinus spray twice a day, an inhaler twice a day, and do my physiotherapy vest twice a day along with another nebulizer in the evening. I have been doing physiotherapy since I was a baby to clear the mucus from my lungs. The vest wasn’t invented until I was in high school. Before that, my parents used a technique called postural drainage where I laid in different positions and my parents would hit my sides, front and back to help me cough out the phlegm in my chest.
I take between 40 and 50 pills each day. Most of those are enzymes so that I don’t have gastrointestinal issues. Since I was a baby, I have had to take enzymes so that I could digest and absorb fatty foods. My mom’s first attempt to get me to take enzymes was putting them in applesauce.
I currently take a laxative called MiraLax twice a week to keep my digestive system working properly.
I go to quarterly doctor’s appointments and have so for most of my life. As a high school and college student, I traveled for my CF appointments, at first going to the University of North Carolina and then followed my physician to the University of Cincinnati. The most important activity at those appointments is the pulmonary function test or PFT which determines if my lung function is declining and whether I need to be a) put on oral antibiotics, b) put on IV antibiotics or hospitalized or both or c) put on the list for a lung transplant. As of today, I have not had a lung transplant.
If this all sounds scary to you, let me say that I have been blessed as my health could be much worse. I have had several friends with this disease who have lost their lives and several of my friends today are fighting for their lives.
As a little boy, my biggest fear was seeing fundraising done by the CF Foundation. As an adult I participate and greatly appreciate it but back then, I had to see pictures and videos of the sicker patients. I had to read the extremely limited life expectancies. I had to think about my mortality and as an 8-, 9- and 10-year-old, that kind of thinking was traumatic.
I am an advocate for mental health especially in the CF community. I go to a psychologist, a psychiatrist and I take anti-anxiety meds. I deal with both anxiety and depression. I believe therapy is a must for those of us in the cystic fibrosis community or really any chronic illness community who have dealt with so many life-altering situations.
When I was growing up, the life expectancy for CF patients was in the teens. Today, it’s in the sixties. Why the change? Breakthrough drugs have played a huge role. The opening of adult CF clinics have too. When I was growing up, there were no adult clinics because CF patients weren’t living to adulthood.
Today, there are more adults with CF than children.
I am taking deep breaths for the first time in my life because of a CFTR modulator called Trikafta. It was the fourth modulator that became available and the first one that fit my genotype. Ten percent of the CF population still does not have a CFTR modulator while others may not be able to take Trikafta because they had physical or mental problems because of the side effects, don’t have the right genotype, live in a country where there is no access to the drug or due to transplant status of the patient.
Don’t be confused. CFTR modulators are not a cure but a way to improve our symptoms. There is still not a cure for cystic fibrosis, a disease that was first diagnosed in 1938 by Dr. Dorothy Andersen.
As a male with cystic fibrosis, I am infertile. 97 to 98% of us face those same challenges because we are born without a vas deferens which aids in the fertility process. My wife was tested to make sure that she did not have the CF gene since I am also a carrier. She did not so we were able to have our children through IVF. Neither of our children has cystic fibrosis. Women also can be infertile with the disease but at far lower percentage (20%).
Feel free to ask me any questions about my condition. I’m here to help.
Live your dreams and love your life,
Andy