My Journey to Diagnosis as Someone Who Doesn’t Look Like the “Typical” CF Patient
During CF Awareness Month, Emily’s Entourage invites members of the cystic fibrosis (CF) community to share their stories. Today’s blog post highlights the story of Ela Castillo, an adult with CF. It was adapted from Ela’s remarks at EE’s 2021 FDA Listening Session.
As a baby, I was always sick with respiratory infections. I was frequently in and out of the hospital and often needed to be in an oxygen tent.
With a Jewish mother and a Colombian father, I was not the “typical” individual with CF, and I was misdiagnosed with asthma. I kept getting sick, but my test results were coming back inconclusive, so my pediatric doctor advised that I go to a specialist in Boston to try to get a proper diagnosis.
It wasn’t until I was 2 1/2 years old that I was finally diagnosed with CF. Why did it take so long to reach this diagnosis, and how did my doctors miss that I had a rare, genetic disease — even when my symptoms seemed like textbook CF?
While CF affects all races and ethnicities, there is a misconception among the healthcare community that it only impacts non-Hispanic white individuals. In reality, there are more than 3,000 Latinos living with CF in the United States and that number has been increasing steadily over the past few decades. In fact, Latinos are now the largest growing minority group, representing 8.5% of individuals with CF in the U.S. Despite their growing prevalence, Latinos with CF in the U.S. frequently face healthcare disparities, misdiagnosis, and ultimately worse health outcomes and a higher mortality rate.
I am incredibly privileged that I had access to medical care and a good pediatric doctor that advocated for me when I was discriminated against. My story is an exception to the experience of most Hispanic people with cystic fibrosis.
While my family was relieved to have a diagnosis, things did not get easier from there on out. In the years that followed, I had many respiratory infections and sinus infections related to CF and missed a lot of school. I fell off the growth curve and had to change my diet to ensure that I wouldn’t need a feeding tube. At age 15, I had 2 PICC lines placed because of my frequent respiratory infections. A PICC line is a central line catheter that can be used for prolonged periods of time to deliver IV medications, including antibiotics, directly into the bloodstream. I had many medical complications and side effects related to the medications and the procedures themselves, which contributed to lasting mental trauma.
Because of CF, I never had perfect attendance at school and there were even times when teachers would make it more difficult for me to complete a grade because of my medical absences. Even in professional settings, it’s difficult to meet the same expectations as my peers because of my medical needs.
A typical “healthy” day for me is waking up and doing my first nebulizer treatments before breakfast. I do treatments again before lunch and once more at night right before bed. These treatments consist of inhaled bronchodilators, steroids and more to help open and clear my airways. The airway treatments alone usually take an hour. In addition to completing these treatments, I also have to take the time to sterilize my equipment like my nebulizer — a time-consuming and tiring daily necessity.
On top of these daily care-related responsibilities, CF also makes things like travel much harder. I have to bring my treatment equipment and medications whenever and wherever I go.
Whether to my parent’s house, visiting my sister in Philadelphia, visiting my grandparents in New York, or traveling to Italy with my family, CF doesn’t take any vacations — and it is exhausting.
I consider myself very lucky that the disease’s impact on my overall health is “mild” by CF standards. Nonetheless, I feel exhausted from the daily hours spent on respiratory treatments, managing dietary supplements, and coping with an ever-growing array of new symptoms and chronic conditions.
I will always have to be a “professional patient.” This means constantly working on medical self-advocacy, care team coordination, insurance wrangling, and much more. These tasks take considerable time and energy.
I used to have a lot of trouble with compliance with treatments when I was a teenager, but as an adult I am motivated to be very compliant with these exhausting treatments because I don’t have many options left.
My CF journey is unique for a few reasons. Unfortunately, people of Hispanic descent with CF have a higher mortality rate. In addition, I am part of the 10% of the CF community who do not benefit from the currently available mutation-targeted therapies. I feel like the odds are stacked against me at times, and it can be hard to keep trying to persevere.
In addition, due to repeated complications and antibiotic resistance, I have a limited number of treatments and antibiotics that I can use when I have respiratory infections, making it more difficult to effectively treat infections. This is the harsh reality for people with CF. We rely on antibiotics to fight severe infections, but ultimately develop resistance – meaning the medicines stop doing their job.
I am working as hard as I possibly can to delay the progression of my CF, as I know ultimately, the only option for end-stage lung disease is a double lung transplant, which is a long, uncertain, and risky road in its own right. I am doing everything in my power to keep that off as long as possible.
I want an effective, lifesaving treatment so that I don’t ultimately have to rely on a lung transplant to survive. Every year my symptoms worsen. In addition to respiratory and digestive issues, I have CF-related osteoporosis. As if that weren’t enough, my CF journey has also led to ongoing mental health struggles. It takes so much energy to be vigilant every day when you have CF, but it is necessary to stay healthy.
Overall, I feel fortunate to have been diagnosed as a young child, and to have a care team that is working with me to tackle the challenges of being Latino and in the final 10%.
I want to share my experience and advocate so people like me — that don’t look like the “typical person with CF” according to the false narratives — can get the best care from day one, giving them the best chance at a long, healthy life. After all, CF does not discriminate, nor do the challenges that come with it. Hospital stays, hours of daily treatment, the worry and anxiety — that is the shared experience of someone with CF, no matter your race, nationality, age, or socioeconomic status.
I see my friends with CF who have access to mutation-targeted therapies and they are now breathing easier and they have more energy to do the things that other people in their mid-20s are doing. While I am happy for them and their success, sometimes I feel envious. I wish to have that kind of life and have those options, too.
I hope that new and better treatments are developed for the final 10% and that we can cross out CF for everyone.
Special thanks to Vertex Pharmaceuticals, Inc. for their tier 1 sponsorship of our CF Awareness Month campaign.
Author
Ela Castillo
Ela Castillo is an adult with CF from Boston, Massachusetts. She is a CF advocate working to dispel misconceptions that delay CF diagnosis and towards access to effective treatments for everyone with CF.