Friday, May 3, 2019


Gene ~ a unit of heredity which is transferred from a parent to offspring and is held to determine some characteristic of the offspring.
Today was the day we have been waiting for...the day Hannah's genetic testing would come back. It's a day I thought would never get here and yet that I was dreading at the same time. It was the day that we would know definitively that Hannah does or does not, in fact, have Cystic Fibrosis.
It may seem strange to doubt that she did after all we've been told, but there was one Dr, the one over infectious diseases, who just was never convinced she had CF. It never made sense to him that it took so long for her to be diagnosed and that she did not present in a physical way as the majority of CF patients do. So, while 99.9% of the Drs told us she DID have CF, I clung to hope that maybe the infection disease Dr knew something they didn't. I mean, I've never been one to follow the crowd, so why start now. 
I stayed at the hotel last night, as I am again tonight, but I made sure I was up and at the hospital in time for the residents and her care team to make the rounds. Deenah and Dr. Wang came in around 8 as usual and, during their daily assessment, casually mentioned that the genetic testing had come back and it was positive. The infectious disease Dr and I may have held out hope, but genes don't lie.
Dr. Pillai and later Brad, the guy over respiratory therapy, explained about the genes Hannah had and what that really meant. They named her genes and showed us how to enter them both in a database and and find out the characteristics of her particular gene set as well as the number of people in the world who have her exact gene mutation of CF. And you know what? There's a reason it seemed odd to the infectious disease Dr (who I promise has a name, but it's a mouthful).
There are only 24 people in the world who share G551D and 1717-1G>A gene mutations. There are about 35,000 people in the US with CF and about 75,000 in the world...but there are only 24 people in the world who are fearfully and wonderfully made with the exact same gene mutations as our Hannah. Wow!!!
I'd like to say I embraced this news with a joyful heart, but I must admit I felt the weight of each of those mutations pressing down on my chest as I listened to their words. I KNOW God made Hannah and He makes no mistakes! I KNOW this has not caught Him the least bit by surprise! I KNOW these things. But. I. Don't. Want. My. Daughter. To. Have. CF.
So, I listened to their words with a brave face and then I went for a walk and cried. I cried because all those Drs were right. I cried because I don't want my baby to have to spend hours a day doing breathing treatments in a vest that beats her around. I cried because I'm tired and claustrophobic and want to go home. And then I dried my tears, ordered lunch and spent the rest of the day enjoying time with 2 people who mean the world to me.
I want to be clear about something as I wind up my thoughts for today. It has never crossed my mind to be mad at God. I don't blame Him for any of this! I admit to feeling a tad bit of Mom guilt this week, especially once my sweat test came back, because it was confirmed that I contributed to her having jacked up genes. You know what's crazy, though. She had to get a jacked up gene from Tim, too, and I would never blame him for that! 
So I now no longer blame God OR myself for Hannah having CF. She IS fearfully and wonderfully made...2 genetic gene mutations and all!!

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