Cystic Fibrosis

What do I know? 

I’m still learning about this disease. I only discovered that I had to know about it 6 weeks ago. E had no problems in our standard two day stay in the hospital. She looked good and was healthy. She pooped and peed like she was suppose too. She came home and did all the things newborns do which is eat, poop and sleep. The sleeping sort of. She had jaundice like all my children. It cleared up without light therapy. 

During a routine weight check at her pediatricians office, they asked to talk to me. Weight checks are walk ins. A little curious, I sat waiting in the room for the doctor. In all my imaginings I did not see her coming in and telling me my 8 day old daughter pinged on her newborn screen for Cystic Fibrosis. That because of that, they did genetic testing to see which mutations she has. I think I stopped listening to her as she told me briefly what that meant. I was not familiar with cystic fibrosis. I did not know how fatal it could be. How much I would be seeing doctors wth my daughter. How much time would be spent in the hospital. The more she talked, the more I could not hold back the tears. Guilt began to overwhelm me that I had passed on yet another crappy mutation I didn’t know I had. I mean how unlucky can you be as a person to be a carrier of two mutations that can have a devastating outcome and not know it. I would never have known if I hadn’t have had kids. How was I gonna juggle J and his extras, balance for A and now E’s extras? I am one person. My husband helps the best he can but he works a lot for us. Her prognosis allowed me to breathe a bit. I know we’ll see hospitals but maybe, just maybe, it won’t be for a while. 

You need two mutations to test positive for cf. In fact, about 1 in 31 are carriers of a mutated gene. She came back with F508del (class II), the most common mutation affecting 88% and R117H (class IV), a rare one affecting only 1%. It is her R117H mutation that has given us a better cf prognosis. Although each persons set of mutations affect them differently, the cf doctor said that she sees the best outcome for E. Time will tell. So far so good. She’s almost 2 months and our next appointment is 5/31 with the specialist. She’s put on about 3.5 pounds since birth and I’ve never been happier about weight gain. Cf patients sometimes have a hard time with weight gain. The pancreas being affected and the body unable to absorb fats. She does not have this issue and my heart goes out to those that do. After joining cf groups on Facebook and seeing the spectrum of cf, I’m grateful everyday that she’s breathing clearly and we’re not in a hospital. 

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