We don’t have to go back for another 8 or 9 months! That is a good thing :). He said we will shoot for that long unless we have any cause for concern.
Here’s what they said this time :
-We asked why she turned blue quite a bit while we were camping. He said they purposely left an ASD (we knew this) in her heart to relieve pressure during recovery. He said it could possibly be due to her ASD but that it was small so he didn’t think that would be it. And it’s too soon to tell if that ASD would cause problems later down the road.
-I asked if she had a greater risk of getting sick, since she’s had two respiratory problems that were pretty hard on her in the last few months, one of them getting us admitted to PCH. He reminded me of the copy number variations from her genetic testing and said that she may have a weakened immune system but the certain things they were looking for associated with her heart that would cause a weakened immune system were not present. But we don’t know enough about the copy number variations to rule out something causing her illnesses.
-She should grow out of her pulmonary artery stenosis but only time will tell. He said it’s too soon to tell if it’s getting better or worse. Energy will be a huge indicator for any heart problems she may develop.
-I asked about fainting in Bailey when she was younger for a few years. And about my neurocardiogenic syncope when I was in high school. He said neither of those, if tested, generally show anything anatomically incorrect in the heart, though they may still be related to the heart. So he wasn’t too concerned with Bailey or my condition in relation to Ruby’s. However, he said that if Ruby faints for any reason, we have to assume that it’s because of her heart and to call in so she can be seen.
-We did not do an echocardiogram. She would have to be sedated because she didn’t want to cooperate (she hated everyone there, ha!). They will do one when she is about 3 years old and will sit still. He said if there is any reason to be concerned then he would order an echo. Everything looked well on her EKG. She absolutely would not let him listen to her heart. She was so mad at him and the nurse! She had everyone chuckling with her protests.
-He pointed out that she was still very small. She’s still barely on the charts. Hopefully she’s just playing catch up. She’s 19 lbs and 15 1/2 months old.
I don’t think I discussed this on here yet. Her genetic testing came back in January and she had some copy number variations. When she had pneumonia we decided with all the blood work they were trying to do, we’d get that going as well because unfortunately they forgot to take a sample while she was out for surgery. After 7 pokes (SEVEN!) they finally got some blood. And then forgot to take a sample for the white blood cell count we were going for in the first place. But they did do the testing which was something I was curious about. She didn’t have any of the 22q deletion or any other syndrome that is sometimes related to TOF. She did have copy number variations which they just don’t really know what they mean. She had some of the numbers repeat themselves. I found it very interesting when I found this article tonight: https://tricuspid.wordpress.com/2009/07/30/new-studies-of-tof/ It talks about copy number variations and TOF! Here’s a snippet I found interesting: “Technically these segments are known as copy number variations. The segments control how much protein is produced by a cell, and the variations can cause too much of one protein, not enough of another – and alter your health forever. So now the work shifts to identifying and controlling individual genes. One has already been found: change that gene, and the risk of having ToF multiplies by nine.”
Originally posted on my family blog on September 28, 2014.