Today we had clinic, as we do twice a week. Gabriella gained .1 kilo, which in my world is good news. The clinic doctor stopped one med, cut back another to once a day and lowered the dose of her cyclosporine from 40mg to 36mg. Those were all great, making for a beneficial clinic visit. I would have been ok if it had stopped there though.
She told us that the final diagnosis of Gabriella's heart condition was coming in formally. She needed to have a talk with the transplant team and the pathologist herself, but it seems as if Gabriella's Restrictive Cardiomyopathy was in fact secondary to another condition. She said it seems as if Gabriella's original condition was possibly Hypertrophic Cardiomyopathy. Hypertrophy is an abnormal growth of the heart muscles cells, causing the ventricles to be thick and stiff (the white sickly muscle I described in my blog yesterday). In her case, it led to a case of Secondary Restrictive Cardiomyopathy, which is where her ventricles were stiff and lost their elasticity, which we knew she had. So basically, her ventricles were stiff and rigid from the outside, and thick and diseased on the inside. Either way, her heart was severe, she was at high risk for sudden cardiac arrest, all possible symptoms were the same and she needed a transplant. The transplant stands as the final treatment.
How does this change the game? Little is known about Restrictive Cardiomyopathy but they are fairly confident that in most cases it is not genetic. Now that they are finding that her primary diagnosis was Hypertrophic Cardiomyopathy, we are faced with the dreaded factor of this being a heart disease passed through family lineage. When I explained to the Doctor that we did not have any of this in our family that we knew of, she said it was very possible for it to be a new mutation in Gabriella. So now, we are going from me wanting to have her native heart genetically tested just in case, to it being a priority. She is writing me a referral to see a geneticist and Gabriella and I will consult with them while here at Loma Linda. If needed, Paul will be tested as well, so we can see if we do carry the gene for this heart defect or if it is truly a new mutation in Gabriella. This is important for many reasons. If Paul or I end up carrying the gene for this heart defect, we will need to be checked ourselves, and most importantly keep a VERY close eye on PJ. More long term, this would play a very important role in us having future children from my own womb. (Come on, I'm only 28 and I am so not done having these amazing babies we tend to create). Anyways, if Gabriella has a new mutation of this gene, this is very valuable information for her as she grows to be an adult, a wife and potentially a mother, God willing.
Here is a link to a description of the cardiomyopathies from a lovely childrens cardiomyopathy organization: http://www.childrenscardiomyopathy.org/site/description.php
So that is where we are now. God is always adding on to our plate. This has potential to be big, or minuscule, and for that answer we will be patient and wait. I have to remind myself, as I have frequently in 2010, that nowhere in the Bible does it say God will not give us more than we can handle. He gives us more than we are capable of handling on our own accord as humans, to see if we will cling to Him to tend to what we can't. Lets just say, I have been clinging to his feet for a while and have no plan on loosening my grip!