Atlanta was the most refreshing appointment with a doctor that we have had in a long time. Dr Kendall is a very impressive doctor who has such a passion for what she does. She came into the appointment with notes of Finn's records (that is right she had already read them!!!), spent a lot of time really explaining what she does, mito, going over Finn's lab work that is abnormal and finally examining him. She really picked up on a lot of the things that Finn struggles with; his mito gastrointestinal system (his largest issue), his low tone (hypotonia), the autonomic issues and all of the other things that our sweet boy struggles with.
Her basic confirmation from all of the records that we brought was that Finn has mito, which we already knew. We came away with a plan to do what is called a buccal swab and more lab work on Finn to hopefully pin point exactly what type of mito Finn has.We ended our TWO hour appointment and headed to what Cadence dubbed the "SHOWTEL" for our first night with both kids away from home in a hotel in a long time (last time was when Finn was 8 weeks old!) We did a connecting room and the kids shared a room and actually slept all night without incident (after we kept them up past 11!)
Some very thoughtful and gracious friends gave us a gift certificate to eat at a resutaunt for Thanksgiving so we were able to stop on our way home and have some amazing Thanksgiving lunch. We are blessed so much by those around us, from people giving us snacks and giftcards for the way down, to people praying for us. We had so much to be thankful for this Thanksgiving.
We got a call yesterday from his doctors in Chapel Hill yesterday and some testing that they had done on Finn has finally revealed some results. Finn has what is known as pyruvate dehydrogenase complex (PDC) deficiency (PDCD) http://emedicine.medscape.com/article/948360-overview. WE HAVE SOME ANSWERS. Shitty answers but answers at that. We aren't sure what all of this means for our sweet boy but to have some sort of validation that there is something that is going on with Finn that we can pinpoint is good (sort of). There is still so much to process here... the link about sort of gives an idea of the direction that we are headed but I will let you know was we learn more.
This weekend ended with more fun as the kids and I celebrated Andrew's 30th birthday with him at his office! Cadence and i made Finn safe cupcakes (gluten free, wheat free, dairy free, soy free, nut free) that were very tastey! Here is Finn enjoying his;
So coming back home has been life as we know it. Finn has continued to follow his "lets get an infection every three weeks" and his GI system is starting to suffer again.
Monday morning will bring about some more phone calls and doctor visits that will hopefully clarify what all of this means for Finn. Finn has struggled this weekend with a high fever and tonight we have noticed a blister around what is normally his pristine g tube site. He is already on high dose antibiotics so who knows what is causing all of this... :(
