Sunday, October 27, 2013

I'm glad that we found time to write the blog tonight, even that the time works for us a little bit different,  it is up to us to really have enough will and share our time with the world.
Since our last post in March there weren't some dramatic changes, thank God, we are using the same supplements since October with some slight changes. I've read some encouraging news regarding our mito world, but also on facebook the green candle is more often than it should be. My day starts always by picking up the news from internet, only interesting for me of course, and I try to summarize that in the evening after i come from work. So sometimes my day starts with info that some mito warrior has lost his battle and it makes me sad beyond words. For some of you that do not know, my job at the moment is as a doctor in psychiatry and when some patient come with depression, it is I who sometimes want to cry and instead i have to swallow big juicy ball of sadness and pain and continue my work.
But for you to know, i am writing our blog to keep the information in time, to try to escape the event horizon of the black hole like the light tries to escape it( or better said, to stay out of it), to light the beacon of light in our dark world so that maybe somebody will be happy to see light when darkness is all around him.
I see other posts from parents with mito kids and they are somehow all the same regarding the fear and helplessness when it comes to our disease, but we'll keep on putting the scientific knowledge as our only way to stay healthy even dough staying healthy for us mean just to be stable. Our milestones are not like for the other kids, we are joying things that other parents can't even imagine.
But, it is our world and we are living it, even that nobody have a clue what is happening there.

                        Holland-Maastricht, many of you know the story, but it is really a nice place to be

                                                                Riding the rhinoceros

                                                              Looking at  Rhein and the Rheintor

                                                                D stands for Düsseldorf

Happy Birthday Nina and Darin!!!!!!!!!!!

Check out Mack, my new truck!

                                                          I'm ready for the cake

                                              Nina, can i sit here for this picture?

Before the pool

Now we're talking!

                                                                            High five!

                                                                 Lakeside near our town

We will sure miss the garden

Also, we moved in a new apartment which was not easy at all, considering our situation and the fact that we don't have any help from anybody, we are just foreigners in a foreign land, land that we decided to make our new home.
However, it's making us happy, we can reach the main town street in 200 meters and all the big stores, as well as pharmacies, doctors and other institutions are available in a walking distance, so that my wife Tanja together with Nina and Darin will be able do manage some things during my work.
Nina and Darin also have separate rooms, Darin adores Lightning Mc Queen and all the Cars characters and Nina got her room covered with Hello Kitty and The Disney Princess. Papa has the living room and Mommy gets the new kitchen.



Nina helps mommy with baking

Nina and mommy are making coffee for papa

                                                         Darin is pretty busy in daddy's room:-)

                                                           Look at my piece of work!

                 There is always competition about Nina's things(hats, sun glasses etc.) and Darin's

                                           Walking in our new neighborhood gives us pleasure

We do parks evenings also and the swing make Nina smile the most

Remember this one?

                 This picture is something that just make our hearts hurt and feel love at the same time

                                                              Riding the little pigs in our back yard (practically) every day

Back to science,and i will  try to keep our blog in this direction, I see more and more proof that oxidative damage is one of the main reason why the disease appear in its clinical form, not just in mitochondrial but in all spectrum of diseases. For now, before science decides to interfere the human genome and just repair those wrong information coming from the cell core( by mitochondrial mutation from its own DNA), we are restricted to fight against the oxid, peroxid, superoxid and all kinds of other molecules messing with our mitochondria. As the most important, we should consider Gluthatione, i quote WIKIPEDIA:
  • It is the major endogenous antioxidant produced by the cells, participating directly in the neutralization of free radicals and reactive oxygen compounds, as well as maintaining exogenous antioxidants such as vitamins C and E in their reduced (active) forms.
  • Regulation of the nitric oxide cycle, which is critical for life but can be problematic if unregulated.
  • It is used in metabolic and biochemical reactions such as DNA synthesis and repair, protein synthesis, prostaglandin synthesis, amino acid transport, and enzyme activation. Thus, every system in the body can be affected by the state of the glutathione system, especially the immune system, the nervous system, the gastrointestinal system and the lungs.
  • It has a vital function in iron metabolism. Yeast cells depleted of or containing toxic levels of GSH show an intense iron starvation-like response and impairment of the activity of extra-mitochondrial ISC enzymes, followed by death.

So as you can see it has a lot of functions but in clinical studies it has been proved that almost all difficult health conditions are followed by very low levels of Gluthatione, not only mitochondrial diseases, it can be found in the liver for example and low levels can be connected with liver cirrhosis.
There are lot of ongoing investigations in this direction but the most important medicine in this moment is EPI-743. It replenishes the Gluthatione levels and it fights the oxidative stress efficiently.We are very happy that Nina is receiving EPI and we hope that the drug will succesfully pass phase 2 b of the ongoing clinical trial in the states and will be on the market soon(hopefully 2015) so that we can get it for Darin also.

We are also thankful that we discovered Idebenone, it wasn't recomended from the doctors and if we can turn back time I know that if we gave Nina Idebenone at the time she was in the hospital we could prevent some of the neurological deterioration. The doctors have knowledge mostly about Coenzym Q 10, and some vitamin co-factors like B1, B2 etc. and I find it very limited because Coenzym Q 10 can not enter the brain and can have only effect on the heart and skeletal muscles which is unimportant in an acute state of illness, especially in small children with mito where the brain stem is the most demanding and the most vulnerable part of the brain/body.

                                                             One of our favorite pics

Am I cool or what in mommy's sweater

                                                Nina says WOW!   You are my coolest brother:-)

Regarding Coenzym Q 10, we ordered liquid Ubiquinol from Solace nutrition (which I think is the best bio-absorbable form of Q 10) and we started with 100 mg daily. What we have noticed is that the energy levels with such a small dose are higher but we still need time to observe the changes.
We added vit. D since October and I think it plays also important role in the cell metabolism also is proofed to be immunity booster in respiratory infections.
There are s.c(subcutaneous) i.v. I.g(intravenous immunoglobulins) which can be very important for disease prevention but the most important thing to know is that they should be applied in acute infections especially with confirmed mito diagnose and in difficult conditions but the doctors do not give that easy because they are expensive so sometimes they have to be convinced. It seems that prevention of stress can be better than dealing with the disease afterwards, I have already lots of thoughts about moving us in some mountain and leave all contact with the rest of the world, but our dependency of hi-tech things is not allowing us to do so.
I also consider Resveratrol but the research in the moment is mostly focused in treating cancer and the actual studies are poor with data and effect on children with mito. Anyway it is definitely something to be followed and keep an eye on.

Nina is real sweetheart and she give us smiles all the time, the only thing that I hate is that I think I am not giving her enough attention, I like to be with them in every single moment. We have a lot of problems with the G-J Tube lately, especially the port where we apply the medications, I hope that the port can be changed so that we don't have to go under anesthesia. I would appreciate if somebody shares their experience( if any) about changing the port from the out side, I know there are some possibilities for that.

                                                                  Gangnam style x 4
                                                        He's very happy when he eats his way

                                                               Federico's cousin

Showing off in front of his sister

                           New in Neuss and already taking part of the local happenings

                                                        Home made Panzer-Tank

                                          Darin pick a flower to make her sister beautiful

                                                  She enjoys that kind of attention

                                                         Somewhere in the woods

                                              The pyjama - party is always in Nina's room


I'm gonna get you!!!!

                                                          He said: It stinks here!!!

                           Mommy enjoys the moment with Nina while Darin plays at the Spielplatz

                                                                Some of his funny poses

                                           Bonn is pretty nice town when looked from above

                                                      Enjoying "Kaffee" with my sweetheart!

                                                         While Darin drives with two steering wheels

                                                            But this is a real car, isn't it?

And here are some other interesting vehicles

                                                               What are you doing?! It's only 9am!!!!
                                                                     Leave me alone!
                                                                  OK, you'll get your smile!

                                                          Rolling with Nina in the bed makes also fun

                                                                 Self-made art!

Darin is my boy, he started calling his daddy all the time, we do all kind of things together. It is also very frustrating when I come after work tired and he wants to play with me and I just don't have enough physical strength to do so. He calls me "buddy"