From time to time we invite guest bloggers who are part of the Emily’s Entourage (EE) community to contribute their unique voices to our blog. In honor of May being Cystic Fibrosis (CF) Awareness Month, we would like to showcase individuals directly affected by this disease in our #CFStrong series. Today’s guest is Mary Pozsgai, a mother who has a son with one common and one nonsense mutation of CF. Mary recalls the early experience she had with CF, and how it has shaped her present day life with her son.
My experience with Cystic Fibrosis (CF) began back in the early 1980’s when I lost my best friend Annie to this hideous disease. Annie always told me she was going to live to be an adult (something that didn’t happen often for people with CF back then). I was by her side on July 7, 1983, exactly one day after her 18th birthday, when Annie took her last breath. Needless to say, my heart was broken. I was angry, frustrated and I questioned everything. Why did Annie have to suffer so much and have her life cut so short? Why was I given such a beautiful friendship only to have it be taken from me? The answer to that last question became crystal clear 10 years later. In October 1994, I gave birth to my first child; a beautiful little boy we named Matthew. He arrived weighing 8lb 6oz and his first few weeks of life were perfect. I would stare for hours at that precious little face, or snuggle him close to me in wonderment.
After a month or so, I began to get concerned because Matthew did not seem to be growing as fast as he should. He was such a happy guy though, smiling all the time, so we believed the doctor when he said that Matt was just a small kid and everything was fine. By February 1995, Matthew started to lose weight despite everything we did. He was also beginning to lose his hair and his skin was starting to break down. We took him to a new doctor for a second opinion and this man turned out to be Matthew’s life savior. He immediately started running tests to determine the problem that was causing our beautiful boy to fail to thrive. Within just a few days, we had our answer. At four months of age and weighing 9lb 1oz (almost back to his birth weight), our precious son was diagnosed with CF.
In that moment I realized that Annie had not only been my friend, she had been my mentor to this disease and she was now Matthew’s guardian angel.
In that moment I realized that Annie had not only been my friend, she had been my mentor to this disease and she was now Matthew’s guardian angel. Despite not knowing our deeper, genetic connection at the time, it was my journey with Annie that prepared me to be Matt’s mom. While I was devastated with this diagnosis, I was also relieved to have an answer so we could start to help our son. Thanks to Annie, I was keenly aware of the fight that lay before us, and fight is exactly what I intended to do. Matthew would never be alone in his journey! It breaks my heart for families who get blindsided by this disease with no previous knowledge of what a hideous monster it is.
Once we were established at a CF Care Center, things began to settle down. But at age 15, Matthew’s world shifted as this disease hit him with full force. We discovered that Matthew had developed a nontuberculosis mycobacteria (NTM) infection in his lungs. This is a particularly dangerous and difficult bacteria, and led to his first journey with long-term IV antibiotics. He did 14 straight months of IVs around the clock that first round. I went from being Matt’s mom to being his nurse, his IV therapist, and his case manager all wrapped up into one. Since that summer, Matt has been hospitalized over 33 times, has done two rounds of long-term IVs, and has increased his treatment burden to about two hours a day. With advances in medicine, it was also discovered during this time that Matthew carried one F508del gene, which is the most common CF mutation, but his other nonsense mutation was so rare that Matt was only 1 of 9 people in the whole worldwide database with that mutation.
I became very active early on, doing whatever I could to raise funds and awareness for CF. I believe this holds the key to Matthew’s future and I was not about to sit back and do nothing while CF raged its war on Matthew or any other child with this terrible disease. I know how little Annie had to help her in this fight compared to what we have today, I’ve seen firsthand where research has brought us. I’ve seen the discovery of the CF gene, the development of new and amazing medications to aid in the symptoms of this disease, better understanding of infection control and now modifiers…drugs that actually correct what’s going on at the cellular level for some gene mutations. My heart bursts with happiness every time I hear of another CF warrior getting to start these drugs, but it simultaneously breaks because even with all my involvement, due to that one rare mutation, my own son does not qualify for these wonderful, life-changing modifiers.
Finding Emily’s Entourage has filled me with new hope. We know now we are truly not alone in this fight.
I know researchers are still working toward medicines that targets every mutation, but I also know that time works against us. Matthew has lost 40% of his lung function over the last 7 years and he continues to fight every moment of every day just to hold his ground. The thought of even another year without these drugs for Matt terrifies me. Finding Emily’s Entourage has filled me with new hope. We know now we are truly not alone in this fight.
Keep your eye out for the silver linings. We have raised one tough warrior who has faced everything CF has thrown at him with more courage than I could have ever imagined. My other two children have shown equal courage. They, too, grew up in the hospital by their brother’s side. For as much as I hate this disease (and I do hate it!), it has helped to mold us all into who we are today. I could not be more proud of, nor could I love these three kids of mine, who were shaped into such wonderful young adults by our family’s journey with CF, any more.