Hole in Her Safety Nets

On the eve of her big journey to the Netherlands, according to plan, I was spreading on the dining room table all the contents to be packed into Av’s therapy backpack, when it hit me like a brick: the refill she needed of Orkambi had never shown up. It was already after hours on Friday evening! I had been expecting that medication on Thursday morning! Since overnight packages tended to be reliable, I previously checked off both mental and written packing lists. What could possible have happened between Thursday and Friday to cause me to overlook something as essential as a missing Orkambi delivery?

Oh.

Over the last 18 hours, I had single-handedly juggled the end of my first week in a new office, the kids’ early release for the start of spring break, an eighth grade conference, a kindergarten conference, a high school parent meeting, and a Thai dinner out. That all happened successfully, yet no delivery.

I scurried to login to myChart, and shot a concerned message to our pharmacist who manages Av’s drug orders. I stated the predicament flat out, “Hello, I realize there’s nothing to do about this on a Friday night, but…”

Orkambi is one of the groundbreaking treatments known as a cftr modular, which to some extent corrects the genetic defect that causes cystic fibrosis. Since Av added it to her regimen after she turned 12, we give it credit for a boost in her lung function, and even more, for stabler health. The thing to understand about Orkambi is, it’s a deluxe, precision medicine exclusively for select cf patients; its annual price tag could buy you a decent house in a small town. Unfortunately, you can’t just pick this stuff up at CVS.

We were in a pickle. She was in a pickle. For all the well-laid preparations, she would have to go to the Netherlands with a gaping hole in her safety nets. I could continue flipping out, I could seethe, or stress, or I could:

  1. Exhale and let Av know about the missing medication. When I told her, she launched into a rendition of a Scout song she made up a few years back on a camping trip. The refrain goes, “Iiiifff we die we die together…” I joined the chorus, which made us giggle for about half a minute. I then asked her, assuming she would be traveling with what little Orkambi she had on hand, whether she thought it better to take the regular dose for five days and quit cold turkey or halve the dose and spread it out over ten days, almost the length of the trip. She would decisively opt for the latter.
  2. Dial up the pediatric pulmonologist on call at the hospital over Friday night to ask if there was any shot whatsoever in hell of acquiring an Orkambi refill from a specialty pharmacy before 10:30 a.m. on Saturday morning? The answer: highly unlikely, but he would check first thing and get back to me. We discussed the dosing plan (he agreed with Av) and he reassured me she would survive this, too.
  3. Exhaust my limited courses of action, and then put the problem in perspective and accept the change in circumstance. Av traveling without enough Orkambi is pretty much a nightmare come true, but it could be even worse. Missing digestive enzymes, for instance, would be a far more painful prospect. So there. The whole trip is one giant leap of faith anyway.

What lesson, aside from the dark side of procrastination, was I reminded of on the eve of Av’s trip? (All you cf parents out there: order those refills early and often!) No matter what, we can’t let our foe get the better of us. We must balance the endless string of challenges cf presents us with enough levity for our own sanity. Take it from my gal. When she boarded the plane, she had a brave smile on her face, maybe a tear in her eye, my kiss on her cheek, and a ridiculously adorable campfire song in her heart… “Iiiifff we die we die together…

Traveling Heavy with Cf

We’ve got traveling on our minds. Among other exciting trips our family has planned this year, Av herself soon embarks on an adventure to the Netherlands over spring break with her granddad (aka Opa) and cousin. While she’s a seasoned traveler, this is her first time going away anywhere for any length of time without me coming along. And there’s only one way she can pack: heavy. I’ll try the translation in Dutch: dat is zwaar. You see, with cf, I know of no humanly possible way to travel light.

We are destined to pack large. Our dog weighs 70 pounds and growing. Lou still needs a booster seat. Phil usually wants to bring along a canoe or a chainsaw or something. Since Av is a cellist, we’ve figured out precisely how to wedge the cello case into the back of our small sportwagon without crushing the bridge, which leaves room for…not much of anything else. On our big road trips, I’m typically the one in charge of packing up the whole cf show. Having over a decade of practice, and given an uninterrupted hour or two or half a day, I can expertly compress every element Av needs for her cf care into just three pieces: a 66-quart storage bin, a 15-pound roller duffel, and a cooler. These vessels take up merely three-quarters of the rear cargo hold. Who cares about clothes anyway?

In truth, the heaviest baggage when traveling with cf is not so much the luggage as the forethought and fortitude required. The dream would be to send my gal off to bike along the canals of Holland carefree. Visiting her Dutch relatives with nothing more than a sketchbook in hand and a passport in her pocket. The reality is, traveling and cf aren’t that compatible. If she ever wants to go to away, whether on a sleepover, to a sleepaway camp, or to college for that matter, the predicament is how to depart from the regular home routine of cf therapies. Seems like we always scramble for pills and a modified treatment schedule because, as well prepared as we try to be, spontaneity and cf still conflict. The central problem boils down to: cf never stays home.

Last time in Amsterdam

Of course, cf also never takes vacation. And so, off it must go as Av’s constant companion. If you’re curious about how much daily responsibility she’s going to have over the course of her Netherlands stay, check out the “quick” care tracker she and I drafted together. It may be a hassle for her to fit in so much therapy while traveling, but at least it will come second nature.

Av’s first solo voyage is bound to be not only her own rite of passage, but ours. Can you hear the echoes of “time to let go, let go, let go…?” Indeed, we’ve no choice but to trust in her abilities to care for herself. We trust she’ll return home to us in good, if not good enough, health. Should cf so happen to prevail and she gets sick, well, I’m sure we’ve got extra treatments for that. What’s most important at this juncture is her embracing an awesome adventure she can cherish for a lifetime. The world beckons to our intrepid young traveler. We are wishing her not only a goede reis, but blessings on her journey.

Superlatives

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…).   

Capitol Hill filtered

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.