When I spoke about our family’s cf story to a group of community members at a Great Strides kick-off meeting, I decided to chronicle more than thirteen years by focusing in on the big moments: the life-altering moments, the critical moments, the best, the worst, the scariest, the most hopeful. Here are excerpts from my talk, presenting our cf story in superlatives.
Most shocking: Reminiscent of seeing the Challenger tragedy on television when I was in sixth grade, or learning about Princess Di’s death over shortwave radio when I was in Peace Corps: in early 2004, during an ordinary drive from home to office, one of the most indelible, unexpected moment of my life occurred. I was pregnant at the time, expecting my first baby! I received a call from a doctor I’d met only the week before. I figured she was making a routine call to share the results of my amnio. I was partly right. She had results, just not routine.
I can’t say for sure whether we were overly-cautious or overly-curious first-time parents when we elected to do amniocentesis. The procedure gives information about a baby’s DNA via the amniotic fluid. It all started for me with an abnormal prenatal test result (moms may remember the triple test). We followed up with a diagnostic ultrasound in which echogenic bowel appeared. With echogenic bowel, the baby’s intestines appear white on ultrasound when they should not, as if solid, like bone. Since Down Syndrome is one condition commonly associated with echogenic bowel we decided to proceed with the next, more invasive step, amniocentesis, despite the inherent risks the procedure carries. We hoped to rule out Down Syndrome, and we would. Little did we know, but echogenic bowel is a marker of other genetic conditions, too, and the doctor, wisely, had ordered additional tests of the amniotic fluid.
Fast forward to that fateful phone conversation with the doctor. The only part I remember quite clearly was the delivery of the news, very reluctantly over the phone, that the baby would have cystic fibrosis. I think we were both were speechless for a moment. I stumbled on a question to the effect of whether the baby would be affected. She would be okay, right? When the doctor hedged, my heart pounded. Her answer was, “She will be affected. And at this point, we can’t know for certain how she’ll do.”
I floated into my office in a daze to do immediately the last thing newly diagnosed parents should: Google cystic fibrosis. Because the truth was, I knew nothing about it. I had blown off the offered prenatal maternal screening. I had no idea a distant cousin of mine has cf. I had no inkling until that very morning I was a carrier. There I sat on my computer in a cubicle facing the shocking prospect that the baby I was carrying was not only going to be born with a serious medical condition, but she would most likely die from it. I retreated to the closed-door storeroom at work where I could cry freely to my mom over the phone. I was reeling and processing the shock with her. I remember exclaiming, “The baby may only live to be my age!” Because the median life expectancy at the time in early 2004 was my very age: 31.
Fortunately, predicted median life expectancy for cf has almost continued tracking my age. (I may feel older these days, but the prospect is still far too young…) Unfortunately, the day our baby was diagnosed in utero, I could not reach Phil right away. He was working in another time zone, in Africa, I believe, and FaceTime and Skype weren’t so prevalent back then. Once I got word to him, he booked the first possible flights home for us to be together. That was the beginning, literally and figuratively, of our cf journey.
It didn’t take long for us to feel grateful we knew about the diagnosis from the very start. We were as prepared for it as we could be at birth. Fortunately, Av did not have to deal with the complication known as meconium ileus (as the echogenic bowel might have suggested) or surgery. And she did not fail to thrive. What she had was a relatively normal and well newborn experience, with the exception of starting enzyme beads in dabs of applesauce before every feeding – usually offered to her on her dad’s pinkie finger – as of day three of her life.
Most risky: We don’t often throw caution to the wind, but we also don’t do the bubble. It’s not conducive to the travelers’ lifestyle! A few years back, Av went swimming head-to-toe in a scummy and stagnant green pond during a weekend visit to her best friend’s grandparents’ farm. We knew that activity was risky, but… priceless fun. And she paid the price with an exacerbation and extra meds quickly following suit. Coincidence or scum? We’ll never know. C’est la cf vie. Yet it was not the most risky time. We, her parents, take credit for that.
When Av was in relatively good health at the tender age of one year old, with enzymes still her only medication, we moved, with something of a blessing from her cf doctor back then (a man who also didn’t believe in bubbles), to live in Ghana, in West Africa, for an opportunity in Phil’s work in public health.
Our adaptable little toddler had a blast! Her days involved fresh pineapple juice, dancing to drums, swimming pools, and even the chance to observe elephants up close and personal. For us, we got a pretty serious blast of cf parent stress. Because once we arrived in Ghana, Av quickly got sick. It would eventually, dramatically, land us with her in a sweltering, rat-infested (no exaggeration) African hospital to start her very first IV. Our British pediatrician pulled Phil aside and asked him basically what the hell we were thinking in wittingly bringing a young child with cf to Ghana. Granted, the doctor had been practicing in Africa for thirty years, and her context for cf was still the old one, of cf as an elementary-age childhood disease. But we got the gist. We knew by then living outside the United States, particularly in the tropics in a place with such limited healthcare, was never going to work, and would probably never be feasible for Av.
Did she come down with her first lung infection in Africa earlier than she would have in America? We’ll never know for sure. What I know is the only answer was to cut our African adventure short, just shy of her second birthday. We headed home where she would be admitted for her first official tune-up, in a much better hospital. This was the beginning for her and for us of coping with persistent and progressive lung infections, reduced lung function, and the accompanying cycle of treatments and hospital stays.
Most empowering: The Cf Foundation offers us an excellent platform for doing political constituency advocacy. Many of us have sent letters to our Congressmen or called about issues affecting our community, especially this past year. About five years ago, when we were living in Metro DC, we took Av to spend an unforgettable day going to the Hill to meet with staffers for our Maryland representatives at the time. We had the guidance of a staff person from the Cf Foundation’s advocacy office. This was our chance to touch on Av’s cf story in short bullet points to help drive home high-level talking points in support of what we still want and need: accessible, affordable healthcare. We invited the congressmen to join the congressional cf caucus to help further the interests of the cf community. I’m glad to say our representatives in Maryland were already on board with Obamacare, the cf caucus, and all the rest at the time. I could not say the same for elected North Carolina officials today (but this is another conversation…).
I thought what we did on Capitol Hill, in a nutshell, was advocacy. But not long thereafter, I got another revelation about the true meaning of what it is to be a patient-parent advocate.
Av has always had exceptional care at each one of her three cf centers, except for this once…
She was inpatient having already had a bronch and starting a tune-up in advance of sinus surgery we were anticipating and planning for. We got caught up, seemingly, in a power play between the attending pulmonologist in the hospital (who was not her regular cf doctor) and her ENT. The point of conflict was: the pulmonologist decided in a vacuum of medical charts to cancel sinus surgery (or postpone by about a month) with consulting with or informing us, the parents. In our view, she threw Av’s entire plan of care under the bus. Whether or not she was right from a medical standpoint, we felt frustrated and betrayed by this particular provider.
On the next rounds, in Av’s hospital room, surrounded by a dozen observing medical students, the attending physician heard from us unequivocally about her failure to provide patient-family-centered care, the practice in which, quite simply, patients and families get a say in decisions about their care. It was another indelible moment for me: standing up next to my child’s hospital bed to speak up for her when she could not stand up for herself. Not only was she was sick in bed, she was also still too young to do it. All I can hope is that that encounter opened eyes (as it did for us) and made an impression on those dozen doctors-in-training who witnessed it that July day in that cramped hospital room. They are, no doubt, in charge of patients today, and I hope they’ll do better.
Most distressing: Some of Av’s most baffling cf-related ailments have really driven home the meaning of the phrase “what doesn’t kill you makes you stronger.”
Like the time she had a terrible adverse reaction and appeared to have been in a fist fight with an antifungal medication. Black eyes, busted lip, the works. The drug definitely won the round!
Like the time I received an emergency call from her best friend, breathless and anxious, to say please drop everything and race to the neighborhood park pronto with antacid. It had been the very first time Av and her bud were allowed to bike to the playground by themselves. By the time I got there, my gal was writhing on the ground, moaning, and gripping her tummy and chest in pain. Her friend a true champ by her side (thankfully with that cell phone). Bikes strewn on the ground. Concerned onlookers staring from a respectful distance. What a scene. Av chugged Mylanta straight from the bottle and then I carried her home to ride out the pain in a bath.
Like the Thanksgiving we spent with Phil’s family when we had to plod through a snowstorm in the middle of the night to take Av to the ER because of the worst tummy pains yet.
Episodes like those have rattled us and moved us. None of us ever wants to see our courageous, resilient children suffer. We are combating cf because we want more than anything to alleviate our children’s pain.
Most uplifting: I’ve had the privilege in recent months to connect with a couple of moms of newly diagnosed babies. One is from a local family who welcomed a lovely little girl. And the other is a long ago grad school acquaintance of ours living out-of-state, who remembered about Av, and reached out to us when her son was born recently with cf.
That mom has been struggling this month through her baby’s very first cold and cough. She’s been concerned enough with his lingering symptoms the doubt has started creeping in. She’s wondering whether the bright messages of hope and optimism communicated by the cf care team when the baby was first born were not totally overblown. Basically, this mom, this couple, is still finding footing in a new reality and they are feeling duped in the face of cf.
I encouraged her to believe this: believe the hope conveyed by the care team. She has every reason to be optimistic about her little son’s future, just as I am still for Av, despite having already coped with our fair share of distressing and discouraging situations. More challenges are sure to come, knowing cf. But I could reassure her, not only do I know how fierce we cf families and our children are, I also know we have extremely promising groundbreaking treatments in our back pockets.
Since Av started on one of those groundbreaking precision treatments more than a year ago, her lung function, and other functions, not only improved some, but stabilized. She – and we – can breathe again! She’s remained so stable, in fact, that at the moment, typical middle school drama dominates our lives more than health concerns! Some unfortunate eighth grade friend troubles managed to overshadow her third sinus surgery this past fall. Funny to say, but I think we’ll take it? Essentially, Av is navigating a completely normal stage of life, just as she should be at 13, of self-discovery; of learning her way in the world; of learning how to take care of her relationships and her own health. She makes mistakes (don’t we all), but I see her flourishing in so many respects.
I firmly believe: cf is just another layer. It is a heavy layer, sometimes dragging us down like a wet blanket, yes. But it’s one of our layers: always present, always challenging us, and enlightening us. Cf is one layer in our family’s rich, rewarding, no-regrets life journey.