Rather than explain it all a bazillion times, which I do NOT mind doing, I just thought it would be a little easier to put it all here for you to read..especially since some of these big words take my brain a minute to recall and if you catch me at a "Mommy moment", they may not come at all. :-)
There are a small number of organizations designed for parents of children with mitochondrial diseases. One in particular (that I didn't even know about until this) is called the Foundation for Mitochondrial Medicine. The other two that I know about seem really wonderful, from what I know about them so far, and are focused on educating parents about mitochondrial disease, support, etc. The Foundation for Mitochondrial Medicine is totally geared at treatment, and eventually, finding a cure. Clara's neurogeneticist, Dr. Schoffner, is on the board of this one, and this is the one that sponsored the symposium. Our e-mail about the event told us that there had been some exciting advancements made in the field, and they were not kidding. I am going to try my best, in very simplified terms (because that's as deep as my understanding goes at this point) to explain some of those things here. For any of my really smart medical and microbiology friends, I apologize in advance. :-) Feel free to correct me if I make errors.
The first thing Dr. Schoffner did was define mitochondrial disease as "a group of rare disease". Of all the people in that room...100 maybe?...all of our children look very different from each other. We were amazed as we talked to other parents. It was amazing how different they all were...with some common similarities. There is a reason for this. In case you have forgotten this from high school biology, every cell has mitochondria. These are the energy making portions of the cell that operate every function in your body. Each mitochondria has its own DNA (different from regular DNA) and each DNA is made up of about 1000 proteins. (Mitochondrial disease can actually be a result of a defect in your mitochondrial DNA
It also explains why there is no "one" way to diagnose the disease. Besides the MONTHS of specialists and testing Clara had to endure, during the two days she was in Atlanta for this testing, she had LOTS of blood work and urine testing (exotic stuff that most labs here cannot do...one was even sent to Berkley), and metabolic rate testing in addition to the surgery for her muscle biopsy. Another test that was originally prescribed but later Dr. Schoffner changed his mind, was the lumbar puncture. We know why, now, and rather than give you the long, boring, explanation for that, I will just say, "That is good news!". The discussion that came with this understanding was from the second speaker, Dr. Hyland, also a neurogeneticist, who explained some recent developments in this field. He is actually the one I understood the least, but I will do my best to explain what he said. They are discovering a lot of links between mitochondrial disease and autism and it is all related to this, my new 'big' word: methatetrahydrofolate. If you have ever been pregnant, you know how important folate is to the healthy neurological development of a baby in utero. What they are now finding its that many mito patients and autism patients have a deficiency in folate in their brain and spinal column, which they call a defect in the cerebral folate metabolism. It is not a deficiency in their blood, but there is something that is blocking this chemical from reaching the brain. They are using
He also discussed the importance of CoEnzyme Q10 (CoQ10), one of the supplements Clara is taking. This is actually supposed to be a naturally occurring chemical in the DNA. It serves 4 main functions: It is an electron carrier in the mitochondrial chain, it is an antioxident, it prevents the death of the mitochondria, and it changes the chemical property of the mitochondrial membrane. While I don't understand all of this, you can see how important it is. There really is not an extremely effective way of introducing this into the body, but the way we are doing it is the best way they have discovered it so far. As it turns out, the supplement she takes...the very expensive, not covered by insurance supplement...in large part ends up in the toilet. Everyone absorbs it differently, which is what determines your dosage. They think your body only absorbs about 30%, on average. In a few months, Clara will have more blood work to have this re-evaluated. It was nice to understand why this supplement is so important for her.
Stay with me...we are almost to the REALLY exciting part.
The final speaker was a man by the name of Dr. Robin Morris who has his PhD in pre-adolescent brain development. He talked a lot about the brain of an autistic patients work and how this relates to mitochondrial disease. He has clinical studies going on and uses a very expensive brain imaging device that can show him exactly how the brain responds to different stimuli. I had only one question for him, and I have to say, I did not like the answer. Those of you who know Clara, know what a bright little girl she has always been. We could read books forever and she could sit at a table and do any activity for a very long time. And the discussions....oh we have had some discussions with her. She has the vocabulary of a much older child. However, since she started her CoQ10, it seems like her brain has been on overdrive. She can't concentrate nearly as well as before. It is hard to get through an entire book some days, she won't sit and do anything for very long, and she seems to stutter. "Mommy, can we....Mommy, ca...Mommy..." You get the picture. She gets "stuck". These were many of the characteristics Dr. Morris was talking about, but the whole time I had that CoQ10 stuck in my head. When it was over, I asked him if he had seen a change in patients with CoQ10. He said, "I have seen all those things, but it's not because of the CoQ10. It's the mitochondrial disease". Ugh. Punched in the gut. If it was the CoQ10, there was a chance we could turn it around, but the mito disease? Not until there is a cure. He did say that some of it might get better as she gets a little older and her brain matures. We will just have to see. I am actually more interested in his research as it relates to Emilie...but that is for another post, another day.
Here is the most exciting part. With all these people working together, they have made HUGE advancements this past year towards a cure for mitochondrial disease...the biggest advancements ever. Part of the problem they have always had is an inability to really see what the mitochondria within the living cell was doing. That is why we have list of medications Clara can't take, but it is a very limited list. They only have that list because somewhere along the way a mito kid took that medicine, and they said, "Oooh...that wasn't good. Don't do that again". Well, they have found a way to SEE the mitochondria in action. One word: Luciferase. That is the stuff in the back of a firefly that makes it light up. They have discovered that they can inject that chemical in to a living cell, thus making the cell sort of 'glow', then introduce another chemical and see what the nitochondria does with it. They showed us a picture of the 'lit up' cells and then the same picture with these little red dots. Those little red dots were the mitochondria with the other chemical added. Pretty cool, huh? That is why they have taken on the slogan "Hope Flies: Catch the Cure", hence, the name of my post.
Dr. Schoffner did talk about one little girl, about Clara's age, who had Leigh's Disease. This is one of the mitochondrial diseases that has a name. Because of some things he has discovered, this little girl is almost completely cured. He would not go into detail, as he is still writing everything up, but she was the first in a clinical trial, and there are more to come very soon. They are already working with a pharmaceutical company and have spent about $5-6,ooo,ooo on this first little girl. That was very exciting to me!
All in all, a really good, but very tiring, day. I learned many new things, got the "whys" answered to many other questions and met so many great people. This is the first time I have ever been to an event like this, and the first time I have been surrounded with so many people going through the same thing. I cried...again (am I EVER going to quit crying over this?), but I was very encouraged and empowered by many of the conversations I had. Some of these Moms have been dealing with this for 8-10 years, and boy, do they know some stuff! And...they don't cry and blubber when they talk about it. Maybe there's hope for me yet. :-)
I am so thankful for so many of you who pray for Clara and our family. I am so thankful for all of you who ask questions about how things are going. If you are reading this, I am thankful for you!
Now my head hurts again. No more big words today. Oh, and by the way, if you want a little more understanding, ask Jeff. He wrote down a lot more big words and descriptions than I did, and he probably understands them! They are going to post a video of the symposium online, so I hope that by watching it again, I will be able to fill in some holes. It is definitely a process.
Love you all!!
Jeannie
