Yesterday morning we had our appointment with Dr. Saal, Director of Clinical Genetics, Dr. Danielle Monteil, Medical Genetics Fellow, Dr. Michael Taylor, Pediatric Neurologist, Dr. Marissa Vawter, Pediatric Neurology Fellow, and Dr. Taosheng Huang, Human Genetics Attending. I was dreading the appointment, not because of any one of the doctors of course, but because John and I could not get it out of our heads that we were going to learn something new, something that would impact Macy and Johnny's future. However, this meeting turned out to be the first time throughout this entire process (as we have impatiently waited for results every single day), that we learned about human genetics which means we finally have a better understanding of what Charlie went through and what really happened to him.
The doctors I mentioned above were there Thursday morning to spend time with us explaining what they learned from all the testing they did for Charlie's autopsy. They had blocked off an hour and a half of their valuable time to sit and check on us and explain to us what they knew. The testing they sent to Baylor University is what confirmed that Charlie did in fact have a mitochondrial disorder but again it is not one of the common disorders or even the rare disorders that they know about to test for. All of those tests were negative. I mentioned this before but now I have a better understanding of exactly what this all means. In our bodies, we have mitochondria, which are referred to as the "powerhouse" of our cells. They generate the energy our cells need to do their jobs. For Charlie we know that his mitrochondria were not working properly. It appeared that everything was fine when he was born because he was doing normal things that did not require his mitrochondria to work harder than they could. Then, Charlie did get sick. He got an infection, possibly from Macy and Johnny, possibly from just being in the world, and it caused his mitochondria to work harder. When your mitochondria in your body is not working properly it makes more in order to compensate for energy that it is not getting that it needs. Charlie's brain and liver, we found out, were full of mitochondria which is why his numbers, tests, MRIs, among other things were getting increasingly worse as everything progressed. Dr. Saal explained this scenario specific to Charlie and then spoke to us about what this means for us and for Macy and Johnny.
He explained that we all have DNA that is found in our chromosomes, and it determines our physical characteristics and all the other parts of our bodies that work. There is also DNA in our mitochondria. The DNA that is in our mitochondria is much smaller but as we are formed and our cells split any of our DNA could not split correctly and in turn form a new mutation. This is one of the possibilities for Charlie. It could be only Charlie that has this specific "new mutation." It could have nothing to do with either John or myself.
The other possibility is that John and I both (which is rare) are carriers of a specific genetic disease (possibly in the Leigh Disease category) which is what Charlie had a 25% chance of getting and got. In order to find out exactly what DNA was impacted and caused Charlie to get sick they have to do something called Next Generation Gene Mapping. From our understanding after speaking to all the doctors that were with us yesterday, this is only very recently even an option to do for families in the same position we are in or even for research purposes. Dr. Huang, one of the genetics doctors at Children's said looking for and finding the one gene that is not right in Charlie's make up is like looking through an extremely thick book with thousands and thousands of pages for one small typo. The unfortunate thing is now that Charlie is gone insurance companies will not cover the $12,000 cost associated with the mapping of genetic mutations. The only way that they are able to do this with Charlie's DNA, to in turn help others, is to use research money. Luckily, Charlie qualifies for a research study at Children's Hospital with Dr. Huang and the doctors were able to think ahead when taking blood and things for Charlie's autopsy to get what they needed in case we allowed them to do this research if and when he qualified. Of course it was not a hard decision for us to make when they told us that it could help other children and families. We signed the paperwork for our DNA and Charlie's DNA to be used for Dr. Huang's research. The good thing about this is we could actually get answers about what happened to Charlie as well. We will know in 6 or so months whether this is a new mutation that is just a "Charlie thing" or if it is something we passed down to him. If it is something that we passed to him it is possible that Macy and Johnny are also carriers. With this information we will be able to look into what this means for their futures and without getting too ahead of ourselves we can help make them aware of this as they start having their own kids. They assured us over and over again that Macy and Johnny were fine. At one point while we were sitting together Dr. Monteil said to Dr. Saal, “You would be willing to bet your annual salary that Macy and Johnny are fine, wouldn’t you?” He responded without even blinking an eye, “Absolutely not, they deserve so much more than that. I am certain we would have seen something by now if Macy or Johnny had the same thing.” So again, they could be carriers (which is a 50% chance if this is in fact what Charlie had) or they could be completely unaffected by getting the two healthy genes from both John and myself (which is a 25% chance).
So after writing this all down, it seems like none of it makes sense, but hopefully my understanding of genetics and what happened to our precious Charlie isn't too far off the information we were given.
Through all of this, I do know one thing for absolute certain, we could not have been loved and cared for by any doctor more than we have been at Children's Hospital. Dr. Saal and everyone else that met with us loved us, never rushed us, sat with us at we gave blood for the research (and if you know me at all you know that is not a fun thing to do...I'm terribly afraid of needles), made sure they did not talk over our head, and gave us their direct phone lines if we have any other questions. It is good to know those people were the ones fighting with us for Charlie's life. Today I am thankful for them. Actually, everyday I am thankful for them. I am thankful and more than grateful that they decided to use the gifts God gave them to help others, especially my Charlie.