When a Rare Disease Diagnosis Brings Clarity (And New Concerns)

At age 65, I was diagnosed with cystic fibrosis (CF) by National Jewish Health (NJH) in Denver 6 months after I took myself there for a MAC lung disease evaluation and treatment plan.

After genetic testing found 2 pathogenic CF transmembrane conductance regulator (CFTR) gene mutations, I was diagnosed officially as "a CFer," and again in May at my local UC San Diego Adult Cystic Fibrosis Clinic.

Although the first CF doctor immediately and enthusiastically announced upon meeting me for the first time, "I am going to change your life!" (because she knew a CFTR gene modulator drug could treat my pathogenic mutations), I didn’t feel only joy in finally learning "what was wrong with me."

My diagnosis brought new fears and new understanding

A proper diagnosis led to some serious new fears while quelling others, along with a massive understanding of all of my prior (mis)diagnoses.

My biggest fear pre-diagnosis was that both my lung and general health would keep going downhill. Once I began the medication, my fear of continuing debilitation was eliminated. I finally experienced normal lung function. Chronic constipation became a thing of the past. My sinuses purged, and even my low blood pressure was corrected by the hydration my body now enjoys.

What I worry about now

Still, a new fear now dominates my healthcare situation: my worries about having lifetime access to this medication.

Not only do I need the charity grant from HealthWell Foundation to continue paying my very high Medicare drug plan co-pays (~$15,000 annually), but I also worry about having serious side effects my body might not be able to handle, or ever being without this drug for who knows what unforeseen reasons.

It's both the worry regarding the cost of the drug, and the fact that my much-improved health depends on a medication that follows me now.

I have new clarity

On my MAC lung disease diagnosis

Yet, the clarity that my diagnosis brought is almost priceless. Finally, my MAC lung disease diagnosis from late 2017 made sense after learning that CF caused my prior extra-thick mucus. It was the perfect breeding ground for me to get a MAC lung infection while living in the rainforest area in Hilo, Hawaii, with soil that could grow it easily and plenty of humidity to aerosolize it. Plus, trade winds could disperse it into the air from the many dirt roads in the rural area where I lived.

On my lifelong healthcare journey

This explanation, along with having explanations for my CF as probably having been the cause of my history of chronic low blood pressure and dehydration, lifelong weight-gain issues, recent glaucoma diagnosis, 2 known miscarriages, chronic stuffy sinuses, osteopenia, general medication sensitivity, serious anesthesia reactions during surgeries and dental care, and kidney and pancreatic cysts was very helpful to my understanding of "it all." My life's healthcare journey began to make perfect sense.

On how my health impacted other areas of my life

In addition, I could reflect on the past and finally have more understanding and self-compassion around how my health issues negatively affected me in school, work, and my personal life. Among 6 siblings, I was the only child who ever complained about tummy aches, had chronic ear infections, struggled with attention deficit, and even cried much more easily than my brothers and sisters. Multiple teachers asked if I was okay during undergrad and grad school due to my inconsistent attendance and performance.

On underlying dehydration

I will never forget the time I had an oral presentation in grad school and took a decongestant earlier in the day that gave me the worst dry mouth ever. The excessive dry mouth totally baffled me as I was not afraid to present and had presented to the research group numerous times before. But I hadn't taken any decongestants before, and was having a major side effect to the one I had taken that day. I now know why. Dehydration that was already ever-present got super-charged by the decongestant.

On why I struggled to gain weight

I also know why I couldn't ever gain enough weight. My older brother teased me about it as a kid. He once told me I was going to turn into a thread and then disappear and no one would be able to find me. If only my family knew that the extra thick mucus of CF was coating my intestines and making absorption very difficult on my little body.

The truth is less scary than the unknown

I almost want to cry when I realize that I was battling a serious rare disease for over 65 years and didn't know it. The self-compassion I have been learning to grow for myself is so much better than the sense of having been a weakling and what was a now-and-again fear of eventually being told I was dying. This was the worst fear I battled emotionally pre-diagnosis, as each new health issue caused by my unknown-to-me CF surfaced.

Although no one wants to depend on medication for the rest of their lives, especially with side effects that must be managed, nor does anyone want to learn they have a serious rare disease. Learning the truth has certainly been a better reality for me than not having any answers and continuing to go downhill. 

So, even though I have new fears now, at least they are based on knowledge of what is truly the basis of my health issues: a serious rare disease, cystic fibrosis.

Making sense of my past, finally

My past has finally begun to make perfect sense, and a new sense of optimism about my future has been forming. As long as I can get and continue to tolerate the gene modifiers, my health won't be as fragile as it had become.

I am grateful to have this less frightening sense of the future, but I know things could change again down the road ahead. I travel this road now knowing how a rare disease diagnosis can bring revelations and even effective treatments, but even then...some new concerns to battle with.

Has your rare disease diagnosis calmed some old fears yet brought new fears your way? Please share your journey with the community. You can submit your story or leave a comment below.