Several months ago, a close family member and his wife were eagerly awaiting the arrival of their first child. A perfectly healthy pregnancy, “text book” by all standards, routine testing showed that all was well. The entire family was over the moon to discover that the baby was a little girl—the father being one of four boys, and his mother’s first grandchild, this was very exciting news! At the beginning of August, beautiful little Paisley was born, a perfect 8lbs with a mop of thick, dark hair and chubby cheeks, she passed all of her newborn tests with flying colours.
Over the course of the following weeks, Paisley’s weight dropped to 7.5lbs, and stayed there; despite numerous efforts to increase her caloric intake, she dropped into the 18th percentile of infant development and her condition, for lack of diagnosis, was labeled “failure to thrive”—three words that new parents never want to hear.
After two agonizing weeks of concern and unknowing, they discovered that Paisley’s “heel-prick” test, at one day old, had tested positive for two genetic mutations correlating to Cystic Fibrosis. Though they had heard of the disease by name, her parents needed the doctor to explain exactly what this meant for Paisley. Her mother describes that revelation as the worst day of her life—neither she nor her husband had ever felt so devastated or cried so hard.
Our perfect baby girl was chronically sick, and there was nothing either of us could do to help her. I’ve never felt so helpless in my life.
Cystic Fibrosis (CF) is the most common fatal genetic disease affecting Canadian children and young adults. CF mainly affects the digestive system and lungs. Ongoing infection in the lungs will eventually lead to death in the majority of people with CF.
At present, there is no cure.
Upon diagnosis, Paisley began a daily regime of enzyme replacement therapy. And, at least three times each day, Paisley’s parents must also administer respiratory physiotherapy, in the form of percussion, or vibration techniques that help to dislodge the mucus in her lungs. For the rest of her life, Paisley will have to undergo these daily treatments. CF is a chronic, progressive disease and these treatments are only preventative intervention to relieve her symptoms. For many people with CF, a lung transplant may be their only chance of survival.
There is hope. New medications have been developed that actually target CF at the cellular level—life-sustaining medication that could improve Paisley’s chances of survival and allow her to lead a “normal” life. Unfortunately, these innovative medicines are not covered by our provincial medical insurance. Because they are still “novel” and because CF is a comparably “rare” disease—unlike cancer, or diabetes, which are far more well-known and therefore better funded—access to these innovative and live-saving medications is not only limited, but unaffordable. At this time, the estimated annual cost for these medications is about $300,000 per year.
Cystic Fibrosis Canada is asking the federal government to implement a “Rare Disease Strategy” which would increase access to drugs for people with rare diseases like CF. They are calling for a pan-Canadian strategy, that would guide decisions about access to drugs, and be built in collaboration with provincial and federal governments.
We need all governments to work together to build a better system to improve access to drugs for rare diseases.
Please, if you know of someone who has Cystic Fibrosis, or another rare, chronic disease, go to the link below and sign your name to this important cause.
Little Paisley is doing well under her parents’ diligent watch. She has gained weight and her lungs are currently clear as she continues to progress. Her parents find peace just by living day to day and not trying to predict the future. It is very important to them that the disease does not define her and that she remains the perfect little girl that she was when she was born.
Once we were able to look at her for the beautiful happy girl that she is, and not let the shock of the disease change our view of her, we have found peace. We’ve never experienced parenthood in any other way, so this is our new normal.