Monday, April 26, 2010

Hope Flies

So many of you have asked about the Medical Neurogenetics Symposium we attended this past Saturday, and for that, I am truly thankful. Thankful for your concern. Thankful for your friendship. Thankful...

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 OR nuclear DNA, but for the simplicity of this discussion, I will stick to the mtDNA) The way our mitochondria function correctly is for these proteins to 'communicate' effectively. He sort of related it to a football long as the guys in the huddle are close together, they can whisper their game plan to everyone, and everyone gets it. However, in a mito kid, these proteins are unstable. As they grow more unstable, they drift further apart, making it harder for them to 'hear' each other. The further apart they get, the harder it is for the mitochondria to function. This, we learned, is why it is so important to try to avoid Clara getting sick. Apparently fever (heat) makes these proteins more unstable. It is also why mito kids have a hard time dealing with heat in general. We have definitely noticed that she sort of just wilts in the heat. This has been a problem with her hippotherapy already this spring. There are some days she just can't do it. It looks like she is going to slide right off the horse. Now we know why. The fact that there are 1000 proteins also explains why everyone's disease presents a little differently. These are just a few of the ways Mitochondrial Dysfunction affects people: Autism, mental retardation, dementia, epilepsy, blindness, deafness, paralysis, muscle weakness, fatigue, muscle pain, ALS, diabetes, thyroid disease, heart disease, kidney failure, liver failure.....the list goes on. It just depends on what part of that DNA is unstable, and that can change over time.

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 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
this MTHF (I think that is the right abbreviation for methatetrahydrofolate) as a way to get the folate to the brain. They have seen HUGE results from this treatment in the patients affected by this. Jeff asked him later, when it was over, if they had done any studies on how this relates to ADHD. They haven't yet, but he did tell Jeff that they have discovered that one thing they have found out is that folate connects itself to the fat in cow's milk and leaves the body. Hmmm.... maybe we need to drop dairy? I don't know yet.

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 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!!

Saturday, April 10, 2010

Tip-toe throught the tulips...or whatever....

Spring has sprung, and actually, I am pretty sure it 'sprung' right past, since it is as hot as summer. Regardless, it is time to plant! I am almost laughing out loud as I type that because I am not very good with plants. Actually, that is a gross understatement. Not only is my thumb not green, it is a blackish-brown know.....the color of a flower that has not been lovingly watered for two...three...four...days and is about to shrivel up and just fall off the stem?

However, God has blessed me with four, precious, outdoor girls who think it is the best thing in the world to go to Home Depot and pick out plants. This weekend was that yearly trip. Almost every annual there was $.50, which made me feel a little bit better, since the plants will likely just be good compost for the next owners of this home. As a matter of fact, Jeff told me this year that we should just sprinkle $100 all over our garden plot, since the results would be the same and it would be a lot less work. :-) Yes, it's true. This southern girl cannot even get a TOMATO to grow!

Either way, we have a great time together planting and getting very dirty!

The Babies plant their first seeds ever. I think Megan would have been just as happy playing in the dirt with no purpose at all. :-)

They enjoyed watching the peat pot "grow".

Alyssa and Megan plant her petunias and snapdragons.

Emilie had her own idea of outside fun.

Emilie and Megan ended up just giving the tricycle a bath. I'm sure it needed it. :-)

As you can see, the girls picked out almost everything. We have...



Alyssa was pretty psyched to find out about "Alyssum'. She got one of every color.




and yellow. (Mommy picked that out for some variety). :-)

We also proved that we "don't get out much". We found a killer of a deal on what we thought was a really nice sprinkler at Home Depot. So, as if it wasn't sad enough that we got so excited over a new sprinkler, we all stood around as Daddy attached it to the hose and turned on the water. The anticipation was high and there were 6 sets of eyes on the new sprinkler. However, instead of the water spectacular that should have rivaled a Las Vegas fountain, we got....less than the bathroom faucet. For a minute we just all stood there holding our breath, thinking for sure it would work anytime. And then the questions started. "Daddy, is that what it's supposed to do?" "How is it going to reach all of the new grass seed?" "When is it going to start working?""Daddy, why is it doing that?" get the idea. Finally, Daddy made us all..and I do mean 'all' of us, his very disappointed girls, go inside. I guess the pressure was too much. :-) However, given a few quiet moments alone, our knight in shining armor saved the day! The sprinkler was shooting sky-high (almost) and all the new grass got watered! I don't have pictures of was already dark. Sorry. :-)

So, a very productive and interesting weekend was had by all at the Bryant house. Hope yours was great, too!


Thursday, April 8, 2010

Too Late for Easter?

I know it has almost been a week since Easter, but I didn't want to let it pass completely without posting some of the fun things we did! On the day before Easter (Easter Eve?), we went to the big egg hunt in Jefferson for lots of fun. Then on Easter Day, we went to church to worship and then to Grandma Jackie's for food and fun!

There was lots of egg-dying...

And cupcake decorating....

Cupcake walking (and Clara actually won one!)

Egg hunting....

Clara got tired and sat where she was to collect her loot. :-)


Plain 'ole cuteness...

Fun at Grandma Jackie's house.....

And most importantly, we went to church to worship our risen Lord. These pictures are taken in the Prayer Garden at church. It's become a tradition since I can never get my act together at home before we go to church. Also, since it is rare for us to all go to church at the same time on Easter, it has become necessary to take all pictures after the service. The life of musicians. :-)

And don't forget a handsome Daddy!

Thanks for letting me share. :-) I hope you had a glorious Easter Day.