"This is a good time to have cystic fibrosis"...these were words that were shared with me shortly after John's diagnosis. I wasn't sure what to think about that statement. My head was reeling and my heart was broken. After 2 miscarriages, a wonderful pregnancy, and an easy delivery I had a healthy baby. So I thought.
I look back now and realize that person was trying so hard to encourage us. What I didn’t know was in the summer of 2015, about the time I got pregnant, the FDA approved a drug for cystic fibrosis. Specifically, the drug is for persons with 2 copies of the F508 gene which causes CF. John has 2 copies of the F508 gene. He’s what they call a “Double Delta.” In layman’s terms this drug called Orkambi treats the missing or defective part of the CFTR gene. It helps balance the salt and water in the cells.
John was diagnosed with CF at 5 weeks old after receiving confirmation via the newborn screen. Then, it was confirmed again through the sweat test. Corey and I did not know that we were carriers of the mutation that causes cystic fibrosis. Shortly after that diagnosis, Corey deployed. I was left with an amazing 6 year old daughter and a newborn with a condition that I knew nothing about. Breathing treatments, enzymes, chest therapy. It was overwhelming. God is so good and blessed us with family and friends who always help us in times of need. In August of 2018, the FDA approved a new drug, Orkambi, for John’s age group. He was on Orkambi through May of 2022. In the spring of 2022, Trikafta was approved for his age group. In May, last year, he started his journey on Trikafta. Trikafta is a triple-combo drug that targets and repairs the faulty gene mutation. While John has done quite well, these modulators are only helpful for about 90% of the CF population.
Why am I sharing this information? In 1989, the F508 mutation was discovered. Thirty- four years ago! What were you doing 34 years ago? I was beginning my senior year of college at GSU without a thought of my future children. There are still many gene mutations that do not have any drug remedies available to treat the faulty CFTR gene because scientists do not know where the mutation occurs. It wasn’t until the mid-1990’s that real progress was made in cystic fibrosis research. I’m asking for your donation to John’s Great Strides team. Research is so important. We have hope for John because of people like you who gave years ago. Those who do not qualify for a modulator have hope, too.
There are approximately 40,000 Americans living with cystic fibrosis. They are moms, dads, sisters, brothers, daughters, sons, friends and co-workers who struggle every day just to breathe. I walk for them,as well as our son John, and hope you will support me in my efforts.
Real progress has been made in the search for a cure, but the lives of people with CF are still cut far too short. There still is no cure for this devastating disease. By walking today, I am helping add tomorrows to the lives of people living with cystic fibrosis. Will you join me? Support me by making a donation to my Great Strides fundraising campaign today!
Please support JOHN and those like him! We have hope!
Help me reach my fundraising goal by donating to my Great Strides fundraising campaign. Your gift will help add tomorrows to the lives of people with cystic fibrosis by supporting life-saving research and medical progress. Your gift is 100-percent tax deductible.
Our family thanks you!
Team JP Marauder