Conversation with Dr. K

I think I am ready to explain the entire Mito appointment, trying to repeat the conversation with Dr. K as closely as possible. Of course you won't be able to hear my heart actually fall out of my body and hit the ground....but you can imagine it. I have had a lot of conversations with doctors in Tucker's 4 years....but I have never actually cried at one. This is not something that I am bragging about, it's just the truth. I think with all we have been through, my first reaction is always "Okay, so what do we do?" or "Tell me the plan, let's get started." So my reaction shows two things: 1. the level of sadness and emotion I felt at this appointment, 2. the empathy and compassion Dr K offered us. Dr. K walked in and took Tucker to get his Mito Mike, the stuffed turtle. She came back and sat down with us. She said that she could see that Tucker's muscle tissue was abnormal as soon as she had it under the microscope. This could point to a muscular problem or a mito problem, but the main point is that it was obvious. So she cut up the muscle fibers and looked at the cells. The first thing she noticed is that Tucker's mitochondria look funny. The mitochondria usually have squiggly DNA and Tucker's DNA float around in circles. Tucker also has double the mitochondria in each cell than a normal person. We thought maybe that was okay, like his body was making up for his mito looking funny by producing more of them...Dr K said no, his body is working way too hard to make the same amount of mito. So the next step is to test the 5 Complexes in the Energy chain. A regular person takes in sugars (food) and the body takes it through a chain to make energy. A person with mito could have a problem in any part of the chain. Tucker actually had increased enzymes in most of the complexes, and he had 87% of normal in one of them. For example, a person with a complex II deficiency might only have 15% of enzymes at the Complex II part. At Complex V Tucker had almost 400%, which is obviously way too much. So up to this point, I thought it wasn't THAT bad....so his mito is not doing its job, but his body figured out some way to make up for that, by making tons more. So then Dr K said she actually "counts" the mito DNA (I'm sure that's not what she really said), because the mitoDNA tells every new cell how its mito should work. Tucker's mitoDNA is only 56% of what it should be. This means that as each new cell is formed, the mitoDNA is copied wrong. In theory, Tucker started out with each mitochondrion in his body having 100% DNA, and over time it copies worse and worse, making new cells function worse. As time goes on, the mitoDNA continues to deplete, and things get more messed up. This is the point where I cried and asked "you mean he's going to get worse?" She said "yes, that's exactly what this means, but I can't tell you how long that will take or how it will happen." Technically a person with 50% or less mitoDNA has a Depletion Syndrome, so Tucker does not meet the actual criteria, but Dr K really believes that if we were to re-test Tucker in a few years, he would have less than 50%. I know that I typed most of this information in last week, but I think as time goes on the conversation and the information gets more real. I have noticed many things this week with Tucker....things that I have been blaming on his prematurity, things that I have been dismissing as "quirks", but they now clearly relate to his mito....each one of these symptoms is like a kick to the stomach, a knife in the heart, making it harder to breathe.... I have suspected for some time that Tucker has autonomic problems, which are a whole other ball of wax that comes with mitochondrial dysfunction. This explains so many of his issues, like not sweating even in extreme heat, extreme light sensitivity (Tucker screams "light off" any time a light is on!), and some other sensory things. I do not really know how to deal with these emotions or the feeling of anticipation of the worst....Chris usually calls me the pessimist, but really I think I have always been the realist. And now I am too scared to be the realist, I don't want to deal with this new reality. I don't have the fight or energy in me that I need....that Tucker needs. Later this week we should receive a packet of materials from Dr K's office, it will have a list of vitamins and/or meds he should start to boost mitochondria function (Tucker already takes 7 meds each day, and I know that there are many other kids out there on many more), and every time we add meds to the list...it is again a new reality and a reminder that none of these meds are ever going away. We also have to schedule an echo for Tucker' heart with the cardiologist...the ONE specialist we actually ever got discharged from! When you leave the NICU, you have appointments with a million specialists, and over time, you get discharged and cross them off the list....except not Tucker. 8 specialists still follow him, and we actually add more each year instead of taking them away....so to add the cardiologist back is completely necessary but also a big let-down for me. I used to look at Tucker's prematurity and NICU stay as a "wake up" call, as a reason for us to cherish every moment and advancement with Tucker, that we were somehow luckier than other families because we truly appreciated every second with Tucker and every milestone we thought he would never reach...well now I feel like we are still very appreciative of every moment, and we did not need to add another diagnosis to just really cement our feelings that every moment is precious, and that we are not guaranteed anything in this life, not even things that most people take for granted. I am kind of sick of wake up calls and reminders at this point. Thanks everyone for reading as I adjust to this new reality...I have a feeling it will take awhile.