The beginnings of our CF story

From Left to Right: Adam (3), Noelle (6 mos), Julianne (9), Tenille (7)

Nathan & I are the parents of four children. Our three youngest children were born with CF.

CF is a genetic disease. Children who are born with CF simply had bad luck. Kids don't get CF because their parents did something wrong. They don't get it for any reason other than genetics.

If you don't know much about genetics, here is a brief explanation. The CF gene is made of four initial parts called alleals. Each parent contributes two alleals to the child. The simple explanation is that one alleal is dominant and one is recessive. Dominant alleals are just that. A dominant alleal manifests itself physically in the child, while the recessive alleal hides in the human DNA. So Mom/Dad could carry two dominant, two recessive, or one of each. During the development of the child (in utero) the child takes one alleal from each parent. Possible match-ups are: dominant/dominant, dominant/recessive, or recessive/recessive.

CF, you may have guessed, is recessive. So the child must take a recessive alleal from each parent in order for the disease to manifest.

The effects of CF are many. The manifestations abundant. Among other things, my kids have enlarged chest cavities to accommodate lungs that must work harder to get air. They have fingertips that are rounded like balls, an effort of the smallest blood vessels to provide what little oxygen is available to the tissues furthest from the heart. They are exceptionally smaller than their peers, a result of significantly less absorption of essential nutrients. They cough a deep moist cough year round because their lungs are not able to clear the thick mucus within.

I share with you my story of their diagnosis because, frankly I am still a little ticked about the experience. When Tenille, our second child was nearly four years old, I was enrolled in an online course of human pathophysiology. Pathophysiology is the study of how disease effects the body. I remember distinctly sitting in the corner seat of our black sectional couch early in the morning. My lap top sitting on my thighs, I was listening to a pre-recorded lecture on the gastro-intestinal system. As the instructor described the gastro-intestinal effects of CF, a small candle lit in the back of my brain, I thought, "This sounds like Tenille." I kept the thought to myself for a couple days, I didn't want to sound an unnecessary alarm. But alas, I cannot keep a secret from my husband. I confided in him my concerns. We discussed it, we both thought it was worth investigating but we had no insurance and so were reluctant to bring it up with our pediatrician. A diagnosis without insurance coverage would have put us in a financial crises. And so we waited a few months. While at work my husband googled Cystic Fibrosis one day. He came home and told me that CFer's don't live to be 20. In my mind this was further reason to tell myself that I was being a hypochondriac.

We finally got a private insurance policy and I took my four month old son and nearly four year old daughter to the pediatrician for their routine well checks. As the visit was winding down, I explained my concerns to the pediatrician.

Another moment I will never forget. I sit in one of two plastic chairs in the exam room, my son buckled into his car seat, sits at my feet. Tenille is on my lap. The pediatrician stands across the room half leaning against the wall, half leaning against the counter-top. She looks at my face as I talk. I finish by saying "I think we should have her tested for cystic fibrosis." The pediatrician has shoulder length blond hair, she is middle aged, maybe late 40's she is an NP so she is dressed rather modestly (financially speaking). She turns her head toward Tenille briefly, maybe 3 seconds, and looks back at me. She opens her mouth and the words travel the width of the room and slap me in the face. "I think she's fine."

Okay so maybe slap is the wrong adjective, it is more look a knock against my throat. I am now a crazy mother/nursing student who thinks her kid has some horrible disease she read about in class one day. I feel like an idiot.

This visit marks the beginning of the end of my relationship with physicians. I now feel "knee-high to a grasshopper" as my Husband would say. The next two years I jump from pediatrician to pediatrician, no longer having confidence in any of them.

One late winter day while visiting my parents in the mountains, the kids come in from playing in the snow. Tenille's teeth are chattering, she says in her scratchy voice, "I'm c-c-c-cold." My mother, saint that she is, draws a pot of warm water for her to put her hands in while she waits for the traditional hot chocolate and marshmallows. Pa stands next to my mom and the two of them set about making hot chocolate. Pa turns and notices Tenille's hands in the water. They are now the color of not-quite-ripe tomatoes. Pa, a retired physician himself, notes the appearance of her fingertips. They are more round than the rest of her fingers.

This manifestation is called "clubbing". Named after the appearance of the fingers, the widest part being the tips and narrowing as they extend to the hand. Pa tells me about the clubbed fingers. He tells me he thinks it is a respiratory issue, and he recommends that I take Tenille to a Pediatric Pulmonologist.

I am weeks away from graduating nursing school, I have accepted my first nursing job on the trauma floor of a local hospital, my insurance benefits kick in on my first day of work. We go see the pulmonologist. I recognize him from school. He was on the case of a patient I was taking care of at the local children's hospital. The patient was an 8 month old girl who basically was born with a blood filled sack in her throat, as she grew, it grew. The baby has had an emergency tracheostomy placed. She is doing quite well, though when she cries there is no sound because of the trach. I remember the pulmonologist because he was listening in on rounds of another patient, a twin boy born at 28 weeks, his case is so involved I can hardly keep up. Apparently one of the child's many abnormalities went untreated for a while, the pulmonologist upon hearing this said, "I thought that was the kind of thing we usually take care of around here." He also stands out in my memory because he bears an uncanny resemblance to Mike D'Antoni, the coach of the Phoenix Suns.

As my Husband, myself, and Tenille, sit across from this pulmonologist he grills us with questions. How long have here fingers looked like this, does she cough, whats her cough like, how often does she cough, What does she do for fun, what kind of sports does she do, does she tire easily, does she snore, does she cough at night, does the coughing wake her up, does she ever cough anything out, what does it look like, how much is it, when did we notice she started coughing, what kinds of treatments has she received from previous physicians, has she ever had pneumonia, has she ever been hospitalized, has she ever had a chest x-ray, how often does she poop, what are her poops like, do I ever see oil or mucus in them, do they have a strong odor, do they float in the toilet or do they sink? The questions go on an on. He addresses our family history. Among the many questions my mind is both answering him and thinking ahead of him. He wants to know how many of the major symptoms of CF she has. He asks us if anyone in our family history was ever diagnosed with CF. We say no.

Then I share with him my experience two years previous. As he listens to me, I search his face for any reaction. What does he think of the physician who blew me off. But, like any well trained physician, he has left emotion outside of the exam room. He hears our story and presents his plan.

At the end of the discussion, he says "if she does have cystic fibrosis all the other children will need to be tested as well. You should also seriously consider your family planning because life with one child with CF is hard, but life with two is really hard." He says this and I ache inside. I ache because I know my son's symptoms are almost the same. I ache because I am pregnant with our fourth child. I ache.

First, lets assess her lung functioning, we can tell by the results whether or not she has asthma. It is an easy test, we can do it right now in the office and have the results immediately. It is also conclusive, the results read one way it is not asthma, the other way and it is. I'm hoping for asthma. I think asthma is easy to manage, it's hardly life threatening. I realize there are parents of kids with asthma and the disease is a very big deal, but to me it is relative. Asthmatics graduate high school.

The result is in. No asthma, the knock against my throat has at once metamorphosed into a cannon ball smashing my guts down into my knees. My eyes burn hot with tears. I will not cry. I will leave my emotion outside of the exam room too.

Second, lets get a sweat test, it is noninvasive, cheap, and definitive. A Sweat chloride level greater than 60 is a positive result for cystic fibrosis. The test is scheduled for April 26th, 2007, the very next day. Results are ready after 24 hours. Tenille has not sweat enough. The test is repeated. Not until our third attempt is the result valid. Her score is in the mid to upper 100's.

I don't remember this number. Isn't that ironic. So many details are crystal clear. But the number has fallen out of my head. The pulmonologist called me at home. If you have ever imagined what it might feel like when the police or a doctor give you news that someone you love dearly has died, or is dying, it is just like that. He asks for me by name. I say, "this is she". His voice changes, I can feel him shift uncomfortably in his chair. I know before he speaks the second syllable. I know. I know that I have now entered the world of parents with children who have currently incurable, fatal diseases. It is back there, at the base of my skull. The black spider has begun to weave her web.

I fight gallantly. I do not cry. I summon the best of my strength and say, "Okay, what's the plan from here? I can almost here him thinking. He thinks to himself, "Uh, Okaaay, we are going to keep this clinical." He gives me instructions, we make plans and arrange appointments, the call ends. I set the phone down on the kitchen counter and walk, as normally as I can, back to my room. I lock the door. I go in to the closet, and slump to the floor, the tears flow.

But alas, I am the mother of a two year old, he comes looking for me, I put myself back together and fake for my son. I say stupid things hoping they will make me laugh, hoping that the tears will dry up.

I don't even remember telling my husband the news. I'm sure I called him at work, I'm sure he came home right away. I'm sure he came in the door called for me and embraced me while his tears flowed. But I don't remember any of it. I switched into clinical mode. I fell out only when the stress was high, and when no one could see me cry.