Tuesday, May 15, 2012

The Cure?

I'm the parent of a child with Cystic Fibrosis. The words chronic, fatal and illness are part of the vocabulary of this disease. So, I am the parent of a child with a chronic, fatal, illness.

On every brochure, pharmaceutical pamphlet, insurance paperwork, government form, and authorization, my daughter’s condition is defined in these terms. Fatal, meaning she is going to die from this disease. Chronic, meaning she will have this forever. Illness, meaning sick.

 In six years, I have never used these words in conversation. Not because I’m in denial. I know my daughter’s condition is all of those words mentioned above that I will clearly not mention. But there is something about defining her condition that makes it true, makes it permanent. Unchanging. And I don’t believe that for a second.

The definition of Cystic Fibrosis is this: Cystic fibrosis or (CF) is an inherited chronic disease that affects the lungs and digestive system. A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening infections; obstructs the pancreas and stops natural enzymes from helping the body absorb food. That’s the definition. But basically, it’s a sucky disease that no child deserves.

My daughter’s plumbing just doesn’t work. So every day we do a roto-rooter type treatment on her lungs. I hook her up to a nebulizer where she inhales bronchodilators, antibiotics, pulmozyme, and other life-saving or death-preventing (depending on how you look at it) medications. She wears a vest (like a very fashionable pneumatic jackhammer) that shakes her chest, so she can cough up copious amounts of mucus. She takes pills to eat, pills to poop, pills to breathe, pills to absorb food, and pills to absorb the pills.  She has a feeding tube at night to ingest the calories she can’t ingest during the day. Like I said, a sucky disease.

If you were to meet my Addie; my hyper, creative, smart, jumping off the walls, beautiful spitfire of a child, you would never equate the definition of CF to her. You’d demand proof that she actually has this disease, or assume I have a raging case of Munchausen-by-proxy.  CF is a progressive illness, which sounds positive, like it becomes better with age. But no, progressive means progressively worse, as in progressively more sucky. A kid like Addie, who is otherwise healthy, who has a lung function of 114% , who runs circles around her friends, not to mention her tired mother, has the potential of the definition of Cystic Fibrosis, the potential of a chronic, fatal illness. At six years of age, the damage has not been done, her lungs are poifect, her disease deferred. But for how long?

In 10th grade my science teacher explained the physics of energy as a ball at the top of a hill. At the top, the ball represents potential energy, but the second it creeps over the peak, it immediately becomes kinetic. It isn’t what it is, until it starts moving. One second in time, one slight breeze, one infection, and Cystic Fibrosis becomes Cystic Fibrosis. It lives up to its definition, its potential, its name.  I’m trying desperately to keep that ball from slipping over, gaining momentum and ever reaching the bottom. Every day, with all my might, we deny the power of gravity and say, “not yet, Newton, not yet.”

In the 1950s, few children with Cystic Fibrosis lived to attend elementary school. Since then, thanks to the diligent and progressive (progressive in a good way) Cystic Fibrosis Foundation, the life expectancy of kiddos with CF has climbed to 37. The medications available are prolonging life and postponing death (depending on how you look at it). But the main goal of the foundation is to find the cure.

The definition of Cystic Fibrosis holds a visceral punch. But so does the antidote. The Cure. To say the least, it’s a touchy subject with CF families. Along with all the innovations in life saving medications, there have been even more promises that haven’t panned out. The herb turmeric was once hailed to cure CF, and a recent drug Denufosol was hyped as a ‘cure’ but failed to produce results.

When Addie was diagnosed at four months old, our doctors said definitively, “There will be a cure by the time she’s five.” So when Addie blew out five candles on her birthday cake, my first thought was not just of celebration. It was, “Don’t tell me my child is going to die, but don’t promise me she’ll live either. I’m not sure which is worse.”

Most adults I’ve met with CF have shared a similar but opposite story. When they were diagnosed as infants, their parents were told to start planning their funeral. These adults who are now in their 30’s, 40’s and even 50’s were expected to die, expected (ironically) to live up to the definition of their disease. Chronic, fatal, illness.

There is power in a definition. It takes the infinite and makes it finite; power in saying something is what it is.  And there is also power in refusing it. Both are equally harmful because each makes promises that may not be kept. And it’s a slippery slope to say potential will become kinetic. Who knows when the ball will drop, or if it ever will?

 On January 31, 2012,  the FDA approved a new drug named Kalydeco that corrects the basic defect of those with the G551D mutation of cystic fibrosis. This mutation is present in 4 percent of the CF population in the United States. It dramatically improves lung function; lowers sweat chloride levels and helps patients gain weight — all key clinical indicators of CF.
To put it simply: This is freaking huge. Huge. Huge. Huge. This is the first time in CF history that a drug has been able to change the course of its disease. It’s not treating the symptoms; it’s correcting them, preventing them. Like gravity reversing, the ball is falling up the hill. Take that Newton! This medication is changing progressively worse, to just plain ‘progressive.’ Like I said, it’s huge. But…damnit, there’s always a but.

The vast majority of individuals with CF in the United States – nearly 90 percent (including my daughter) have a different mutation, called Delta F508. For my kiddo and most of the CF population to benefit from Kalydeco, another drug is necessary. Enter, VX-809.  In the Phase 2 clinical trial of Kalydeco in combination with another potential therapy, VX-809 has shown positive results. It’s difficult to understand. But basically it means, both medications have the potential of working together to transform Cystic Fibrosis from a chronic, fatal illness into an endurable, pain-in-the ass, condition. From a life expectancy of 37 to a sky’s the limit, do whatever the hell you want life expectancy. We could be on the verge, on the top of the hill of a potential cure that has the promise of becoming kinetic.

I hate to say it, no I love to say it. My daughter will see the cure in her lifetime.
The definition of Cystic Fibrosis will have to change. Anatomy books and medical anthologies will have to correct their terminology from chronic to cured, from fatal to endurable, from illness to condition.

In the meantime, I, like all parents of kiddos with CF, will hold our babies at the top of a hill, blocking the breezes, and defying gravity, waiting for the day when diseases like CF no longer have the power to define our child’s life expectancy. Nothing is permanent and definitions, like diseases are ever-changing. As it should be.