The Sweat Test / Appointment One

The next day was the sweat test at Geisinger Hospital in Danville, PA. I was thankful that we had gotten the results of the DNA screen the previous day, because I was imagining how HORRIBLE the 3 hour drive to the center would have been if I still held out hope for a negative result.

My mom came with me, Alex, and Anna so that she could support us and get all of the information from the doctor.  The support I received and still receive from her is SO crucial to my coping with this whole thing, I’m so blessed, and that is one thing about CF… it really is a team sport.

My main focus was meeting with the doctor right after the test. I was actually excited to be able to get some answers and to finally help my baby gain weight and feel good. The doctor assumed we already knew the results, but still  said OK her levels around 90 and 110 (normal is anywhere from 30 to 50) and we were all silent for a minute and I said so.. she has it right?

I don’t know why I asked but I guess I needed to hear someone say it out loud and he said “Yes, Anna has cystic fibrosis.”

My mom cried, and later said she hadn’t really believed it at that point. My husband and I stood firm just seeking information. I told him everything happening with her: her belly seems like it’s hurting her, grunting during bowel movements, the loose and runny consistency, the frequency, the color, everything. From that very first appointment he ordered her enzymes.

He explained that the reason for the poor weight gain, excessive stools, and color of the stools is malabsorption. CF commonly (and always in Anna’s mutation combination) causes pancreatic insufficiency. Essentially, Anna’s pancreas doesn’t function and her food can’t get absorbed naturally by her body so it passed right though. The enzymes break down her food for her and just pretty much completely replace the pancreatic functions.

Anna started on 5000 units of zenpep and took half a capsule with rice cereal,  over time and weight gain she now takes 3 capsules every feeding mixed with apple sauce (the acid helps break down the enzyme).   Dr. Perez gave us an immense amount of hope about the future of CF.  He said he truly felt there would be a cure in the near future and that Anna’s future will be bright.

The ride home wasn’t nearly as sad and I would have thought.   I got ahead of myself a few times thinking about what the future held but somehow we all carried on.  We laughed at the same silly jokes and had the same normal conversations in between our worries and talk about CF.  I also felt a sense of relief with her prescription in hand.  We called every pharmacy trying to get  a hold of the enzymes since my main focus was getting her healthy and digesting as soon as possible.  It was really surprising to me that we couldn’t find them anywhere,  I think that’s when it hit me just how rare this is, not even York Hospital had them.  The only place we could get them was from John’s Hopkins the next day.  The next day was July 2nd and since it was my 25th birthday we decided to make the best of our trip to Hopkins pharmacy by going to the Inner Harbor.  Getting that first dose of enzymes in her and knowing she was digesting her food was the best gift I could have ever received.

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