Thursday, November 5, 2009

Gav's diagnosis part 2

Part One

I can close my eyes and picture that exact moment like it's all happening again. I looked down towards the floor and saw my perfect sleeping baby in his chair, I know which onesie he was wearing. I've thought about getting rid of it...donating it, selling it, burning it. But it's still here, packed away with all his other clothes, just like any other outfit.

I thought my son was dying in front of my eyes.

All of my hopes and dreams for him vanished in a second. To me, cystic fibrosis was a death sentence. Did any of you read Lurlene McDaniel books growing up? I clearly remember one discussing CF for a teenage boy...and he died. He was a teenager. What the hell. Why my son. Why didn't he get a future. He looked so perfect. FML.

It took me a few months to realize that he is perfect in his own little way.

Bawling my eyes out I called our ped back, left a frantic message, and then called the number given to us for a genetic counselor at the University of Minnesota.

This HAD to be wrong. They must have mixed up his blood with that of another baby born that day. I mean, there were 12 babies born that had to be a mix up.

I told the counselor that I was demanding a retest. At that point, I didn't understand how the screening worked. When the state runs tests on a newborn's blood, chemical imbalances can detect a mutated gene. This imbalance can be found on both carriers and those with full blown CF. So the state looks further into the imbalance and finds either one mutated gene (carrier) or two mutated genes (CFer). Needless to say, they found two mutated genes in Gavin's blood.

After speaking on the phone to the genetic counselor, and our ped, I calmed down. A bit. I knew very little about the disease, but we were told to stay off the internet until meeting with our new CF team at the U the very next day. I looked up the definition of the disease but left it at that. I found out later that Casey snuck downstairs to the desk top computer and looked up a bunch of information. He had never even heard of the disease, when the ped gave him the diagnosis he assumed it was something that could be sweat.

I don't think either of us slept that night.

We left for the U bright and early the next day, it was all I could do to not burst out in tears while sitting in the waiting room. Our CF clinic is located within the specialty pediatric clinic so the children waiting could have a multitude of different issues. I saw children with distinct deformities/disabilities, children on oxygen, children with clear mental way, this cannot be happening, this was not my son's place to fit in.

It didn't take long for the tears to erupt once we started talking to our pulmonologist. She broke down the basic statistics for the disease, and what it entailed. Somehow I managed to retain a lot of it.

Cannot digest food without medication, may have growth issues, body does not regulate salt & water correctly allowing build ups of mucus, bacteria sticks to mucus causing infections, the life expectancy at this time is 37.

Now this might sound crazy to you. But hearing 37 was somewhat of a relief to me. I had been picturing my son dying in middle school. And in the back of my mind, I knew what kind of medical development was happening in the world. I now knew that 37 was not going to be his expectancy, I now knew that he had a lot more life in him than that. I don't know how I knew that, I don't know how I know that. But I do.

After meeting our pulmonologist, the genetic counselor, the nurses, the nutritionist....we met the respiratory therapist. She is still my favorite person on the team. She is very blunt, but very loveable. She truly cares about her patients, she is the one that sits in the room and asks us about our lives...not just about CF. She has been working with CF patients for over 25 years, and she was honest by telling us that many of her patients get mad at her, sometimes even despise her. She makes them work their asses off to stay healthy.

She told us that on a scale from 1-10 of being aggressive with this disease...the U was at a 12. She told us that our son would bury us, not the other way around. She told us that we were the first "generation" of CF parents that she felt comfortable saying this to. She told us that the U has the highest life expectency in the is typically 10 years more than the national average. She told us that the U was one of the best places in the world for CF care. She told us "The Vest" had been invented by a doctor at the U. She told us everything we needed to hear that day...enough of the bad stuff, and just enough of the "good" stuff.

We were later told that we held it together pretty well during this first appointment. I couldn't help but think...what the hell? We held it together? Are you serious? Oh man, it must get pretty crazy in my opinion we most definitely did not hold it together well. But I guess after about 10 minutes I did stop crying, and didn't cry the rest of the appointment...

We were taught how to break open the enzyme capsules and mix them in with a dab of applesauce. Yes, my six day old son was starting solids already. Ok, my world really was getting flipped upside down. We would start with a 1/2 capsule with every "meal" and would work our way up a 1/2 capsule at a time until we found out what dosage he needed to be able to digest and absorb his food. Then we were told to go home and enjoy our baby...

Go home? Alone? Can't a nurse come with us? How are we supposed to do this alone?

Surprisingly, I never felt like this when we first left the hospital with Gavin, I felt confident in our abilities to take care of him. But suddenly, I felt clueless. Stupid. I had absolutely no idea how to care for my son's disease. But ok, we'll start with one enzyme at a step at a day at a time...

More to come...


  1. Jen, I can so relate to your story. Reading the diagnosis of Gavin brought me back to my sons diagnosis. It was so similar. Also not knowing how the genetic screening worked we insisted on another test. We would look at our baby and say no way, he looks healthy. The CF Clinic went ahead and did it to ease our minds and the results were of course the same. I've debated telling our story as you have but it's so emotional. You are very brave to be able to talk about those days. Thank you for sharing.

  2. Thanks for sharing your story. I definitely enjoyed reading it and getting another perspective! I know that had to be a very tough time. Gavin has so much life in him from what I can tell! And a cure is just around the corner!