This handsome man…

Is a total miracle.

He is funny…and chubby…and a dream come true.

One year ago on October 10th, while I was laying on an OR table at the IVF clinic this was the conversation I had with my fertility doctor:

Dr: Angie, our of your 15 embryos, 13 have CF, 1 is a carrier and 1 is undeterminable.  Of the ones with CF we suggest you only consider implanting the ones with R117H and of those you only have 3. 

Me: (with a lump in my throat and tears spilling onto the operating table) Well, I want to implant 2 embryos, so I guess transfer the carrier (30% implant chance) and transfer the undeterminable embryo (about a 70 % chance of implantation).

Dr: (after leaving the room to call the geneticist) You know that if this undeterminable embryo is a male and he has CF he will most likely be infertile.

Me: I’ve read that…that is a chance WE are willing to take.

 

I walked out of the hospital that day scared to death that all of my dreams had just been thrown out of the window.  I had zero confidence that we would make it through that IVF cycle with a viable pregnancy, let alone this precious little miracle man that is snoring next to me right now.  I didn’t care what was wrong with our baby AS LONG as we actually had a baby. 

We jumped through every possible hoop in order to A) get pregnant and B) get pregnant with a baby that was not affected with CF.

We prayed and prepared ourselves, but I don’t think anything ever prepares you for the news we got yesterday.

On September 14, 2010 we got the call that I had obviously NOT prepared myself well enough for.

Our miracle, Cullen Spencer Kahl, does have CF.

Just writing those words kills me a little inside.

Guilt.

Shame.

Fear.

I felt all of those emotions.  Guilt for “doing this” to him, shame for being so selfish about wanting to have another baby that I would risk CF again, and fear about how his mutations will present as he grows older.

Cullen has the same two mutations as Ellie, but they are the only two known cases with this combination of mutations.  So, we don’t have much info on the history of the mutations together.  Ellie has become progressively more symptomatic and with each infection she takes longer to recover and requires more intervention and medications.  This last virus turned into a bacterial infection and lasted 4 weeks and took 3 rounds of antibiotics. 

This disease is so rare and misunderstood that we really feel alone a lot of the time.  We are talked about for skipping out of birthday parties and group gatherings by friends and even family members.  People assume because you look healthy you must be healthy.  Most outsiders aren’t capable of understanding how an infection affects our family.  Deductibles, meds, sleeping apart, it is all a part of our world when there is even a sniffle in anyone’s nose.  I’m blessed b/c I have made some great friends through this blog as well as a handful of close friends that all understand where we are coming from.  It’s nice to feel like we aren’t crazy for taking the precautions we take for the sake of our family.

The wind was knocked out of my sails yesterday.  However, at least we know about Cullen’s disease early and we already know the “ropes” a little.  The director of the CF clinic happens to be the kiddos pulmonologist as well.  She called us personally yesterday to deliver the news and arranged for us to be at Texas Children’s today to get Cullen started in clinic.  Also, she was super concerned with Ellie’s poor response to the three antibiotics she was given so our baby girl had to go in for a chest xray as well.

Stats:

Cullen: 14.9 lbs (72%), 24 in (40%)

Ellie: 38.9 lbs (80%), 39 in (72%)

Ellie showed some thickening in the walls of her lungs when compared to the last xray.  She also cultured strep G and ecoli in her last culture.  The doctor chose to start her on cipro and recheck in a few weeks.  Cullen has his first PFT in November and I am super worried about it because they sedate him for it!  Ellie is also starting on a denufosol study next week.

 

I can truly say that this disease is a very real part of our daily life.  Yes, we still have to live our lives, but having three people in one house with CF will present many challenges for our family.  I feel like just when B and I were starting to let our guard down a little bit with Ellie we put it up “bigger and badder” to protect all of us.

This is our reality.  We have made it through so much and I know we will make it through this too.  I’m pretty sure our family motto is going to be: Never a dull moment!

 

The LORD will fulfill his purpose for me; 
your love, O LORD, endures forever— 
do not abandon the works of your hands.

Psalm 138:8

Blessings,

Angie