Cystic fibrosis (CF) can be difficult for young children to say. According to the Cystic Fibrosis Foundation (CFF), “65 Roses” is a term young children with CF use when they are unable to say cystic fibrosis. In 1965, a young boy with CF heard his mother on the phone gathering support for CF, and he said she was working for 65 Roses. Now, 65 Roses is a registered trademark of the CFF and continues to be used to help raise funds and recognition for CF.
Not only is CF difficult to say but it is also difficult to live with it. I have lived 43 years despite my CF. I have always thought of it as a challenge to overcome, that is, to focus on the petals and not the thorns. The thorns of CF are difficult to ignore as they prick you in every aspect of life. From a difficult diagnosis at age 20 months, multiple “tune up” hospitalizations from age 11, a CF-related diabetes diagnosis at 13, lung transplant at 29, kidney transplant at 39, and skin cancer from antirejection medications at 41, the thorns keep pricking. But the soft, sweet-scented petals give perspective. I have friends who died at a young age of CF, so I feel fortunate to be living this life, thorns and all, for them.
CF is a much different diagnosis today than it was when I was born in 1977. CF came with a very bleak prognosis and few treatment options. My best friend recalls being told there is a girl in her class who would die before she was 16. The day we met, I came into school around lunchtime, as I often had bad nights and it was difficult to be up early for school, and we were instant friends. Thirty years later, we are best friends who have bloomed into adults together. It was friendship that got me through my school-age years. It was not easy trying to be a “normal kid,” with treatments, coughing fits, frequent hospitalizations, and missing out on “normal” kid stuff. Sweet 16 had a much different meaning for me, as it was my first survival milestone. As my age increased, so did the life expectancy of CF patients.
The journey to diagnosis was like many others my age. It was not until I was age 20 months that my parents received my CF diagnosis. There was no prenatal or newborn screening to assist in early diagnosis. Many parents “just knew something wasn’t right,” and my parents were no different. With no familial history of CF and one healthy child already, CF was not on their radar. My mom recalls a salty taste when kissing me and noticing I looked very malnourished. I also had greasy, malodourous stools but did not have a meconium ileus at birth, which is a classic diagnostic condition. My ancestry is a risk factor, as I am a White person of Norwegian descent.
My parents took me to my local pediatrician who ruled out allergies and other conditions. It was my uncle who suggested it might be CF after researching my symptoms in a medical reference book. Three sweat tests were performed, and two were borderline positive. Listening to my mom tell the story of my diagnosis, it seems it was more diagnosis by default.
Today, more tools are available to help providers screen for and diagnose CF. Prenatally, mothers can be screened for the gene that causes CF and newborn screening now includes testing for CF. Although these are only screening tools, they are important to guide providers and parents in the right direction.
In discussing genetic carrier screening with my mom, she said she would have chosen to have prenatal carrier screening had it been available. Although it would not have changed the outcome of the pregnancy, it would have allowed my parents to research CF, emotionally prepare, and arrange for a specialist to provide early intervention and treatment.
Spending so much time in the hospital growing up, it became a second home. It was a place of comfort where I didn’t have to be “normal.” Often by the time I was admitted, I was exhausted and extremely sick. Getting into the perfectly made hospital bed with the smell of the crisp sheets would drain all the stress from my body. The nurses who took care of me had a profound influence on my life and are the reason I am a nurse today. These nurses were the rose petals of comfort and care for all the thorns of my CF.
Being an obstetrics nurse, I also see the provider’s perspective about genetic screening. In observing outcomes of coping with birth where there is a known or unknown genetic condition, parents come prepared with information on how to best take care of their infant. This allows them to focus on bonding instead of being overcome with shock.
Genetic carrier screening gives parents information to make informed decisions, find medical providers, and provide treatment as early as possible. Early diagnosis and intervention are correlated with better outcomes for CF patients. Any advantage parents can give their child is essential in dulling the thorns of CF, so that their child can bloom and grow.
Amy C. Johnson is currently working toward completing an MSN–Psychiatric-Mental Health Nurse Practitioner Specialization.