As Hubby and I were headed out the door last night to see the Nutcracker, I reached into my purse to put my phone on vibrate, and I realized that it had still been on that setting since the night before..and their was a message. It was a message that I would have never expected to get in a million years!!
Macaylah had so many tests done (to see if her lung issues were genetic) before coming to Boston. All of the doctors were not surprised when all of them came back negative. They, as well as us knew that her lung issues were a result of prematurity and multiple infections in the hospital.
I listened to my message..."urgent message. This is Dr. Hudak from Tripler Army Medical Center and I need to discuss some important test results regarding your daughter" Well if that didn't put a whole boat load of "what if's" in my head. Hubby called back right away.
What I understand the most about their conversation was "at least we have an explanation"
There was a test result that was still pending that we were not aware of. It was a genetic mutation test (not positive on the name..we are still waiting for the fax) I will try to explain it best I can. Macaylah tested positive for a gene mutation. She had a normal variant as well, but when that certain gene mutation and that specific normal variant are combined (which is what she has) it can act like Cystic Fibrosis. We were stunned. All along we thought that it was just her prematurity..we were a little puzzled at times to see other 24 weekers do well and eventually go home, when poor little Caylah bear was still struggling. We now have a concrete reason as to why our little girl is so sick.
This is all so Bittersweet for us. Knowing why she has had such a hard time recovering from infection these past 9 mth is such a relief, But knowing that the outcome and treatments are exactly the same is devestating. I am not 100% sure that NOTHING more can be done for her. We are going to present this info to the docs at CHB today, and see if their is anything else we can do for her. But hubby being a doc himself does not think their is any other medicine or treatment that will "cure" her.
Genetics are VERY foreign to me..I will be doing some more research on this specific gene mutation, and I will keep everyone updated as best I can.