Wednesday, May 30, 2012

Hello,
we are in the new appartment, we have no stairs, and we are happy, but, there is always this reallity voice in my head that said, hey, wait a minute, our situation is very difficult, why are you happy about?




There will be always like that for us, mixture of feelings, 1000 hows, whys and other question words are ringing all the time.
Yesterday i had a skype appointment with Dr.Kendal from USA, she makes skype appointments with patients all over the world, we spoke for one our, the cost is 500$ for this.
She did not tell us anything new, besides that our mutation is one of the hardest and that the disease will always progress, but i did not let her speaking for those things, instead i was asking her questions so it was one more experiance for us.
She told us some things about supplements and how children are treated in the USA.
Her advice was to give the mitochondrial complex to Darin also, i am giving him Idebenone and vit.C but i will consider giving something additional also.
From her perspective we should include Carnitin and vit B2 in Nina's cocktail, but we have already giving
 vit.B2 for couple of months and we did not see any reaction.
Anyway it's very hard to give all this, it is like one full bucket of different powders, and we always have hard time giving that in the PEG-J tube because they are always stuck in the tube and we have to do a lot of manipulations to get that through, and Nina feels that and she is always angry and crying.
We started giving 300 mg vit.B1 this last week and i lowered the Creatin from 1250mg to 500 mg a day.
Long use of Creatin has showed in the reports nephrotoxicity, and she does not have big muscle activity so i will wait and see if there is any difference, aldo children highest dose is 5000 mg.
I asked Dr.Kendal about what is the best form of coenzym Q10, whether is ubiquinone,ubiquinole or idebenone, she thinks that ubiquinole is best resorbed so i will see about that in the next period but idebenone is  something that showed results until now so will stick to that also.






I am a little bit disapointed, and i felt very helpless after the conversation, it was like confirmation to all that we all ready know.
However, Dr.Kendal has her own patients that are receiving EPI-743 and she said that two of them with Leigh disease are showing significant improvement.
We have telephone appointment tomorrow with Dr.Guy Miller from Edison Pharmaceutical, and we really hope that he will allow us to get EPI-743 here.
Please pray and hold tumbs for us getting EPI-743 at home!!!!!

Sunday, May 27, 2012

Zu Hause!

Hello,
we are finally at home!!!!
Today we connected the internet so we would like to address to you.
It is rented apartment but we feel like ours, we are so tired but happy for this new opportunity to enjoy a little bit more, we will write more tomorrow, we need to find the cable for our camera, everything is still in boxes, so  we hope we can take some pictures tomorrow and upload them on our blog, until tomorrow!!!!


...it is almost tomorrow, we take some pictures today and we would like to share...






Wednesday, May 23, 2012

Waldorf Dolls for a Cause

Hello,
we have to do a lot of things this week but the weather is very nice and hot so we were out again today, but this time early in the morning, we had wonderful time together, tonight i prayed the Lord to give us as much as He can such wonderful moments together.
We are wondering everyday what is next and we want to grab every moment together, we live in the present and we don't even dare to look in the future.
There was an auction for our cause from Wooly Babes - Waldorf Dolls for a Cause, here is their link
Wooly Babes - Waldorf Dolls for a Cause
they make dolls from natural materials and they sell it to a highest bidder, one part of the money collected goes to some hospital or other cause, but most of it to the family that needs this help, for our doll the highest bidder was Sharon Jesus and she both this doll for 190$.







We would like to thank her for this, we know that she did this only because someone there need help, now Alana from Wooly Babes will have to make this beautiful doll and Sharon wanted it to look like and to named it Nina!!!


So we send Nina's picture to Alana and we hope that Sharon's daughter Olivia will enjoy with this doll!!!!


Monday, May 21, 2012

New home, new hope!!!!!

Hello,
we are moving to another apartment, we took most of our stuff to the new apartment today, so there are not much furniture left here, i took one big rent a car transporter and we were packing!!!
We should be till this weekend in our new home, with our own garden, we are so looking forward to this!
That is ground floor apartment with no stairs!!!We hate this stairs here so much, they are over our heads, and so we hope that it would be easier for us in our new home.
Yesterday we went to a walk in the park near by, Darin was playing in the playground and one little girl came to him, they were playing!!!











That is first contact that Darin had with another child except Nina!!!
He was playing important and not showing too much attention to this little girl, and she wanted to kiss him and hug him all the time:-)
Nina was satisfied, the weather was very nice and hot, we were never so much in open all together.
After that Nina was smiling all evening, Darin stayed late last evening and played all the time, i think my children need to go out more often, that is why i hope things will be better in our new home.
Also, it was my birthday, Tanja bought me a little cake and we blowed the candle!!!!!!!
It was the most beautiful birthday for me, because Nina gave me lot of smiles and Darin was real sweetheart!!!!!


Today things are more rough with all the moving, Nina is angry all day but we really didn't pay to much attention to her and i thing that is the reason.
Now we took a long and nice bath so she started smiling again!!!!



At Saturday, we received E-mail from Mrs.Lorraine Gilmore, director of Edison Pharmaceutical,. she said that our friend Dasa called her about us, so she told us that Dr.Guy Miller, want to speak with us, she wanted to make an appointment for us, because of his tight schedule, so we hope that we can speak next week.
Also she asked us could we go to Rome for treatment, it is really good news for us but traveling is one of the reasons that we are in such a bad condition!!!
I told her that if that is our last option, we would do that, but we need some special aircraft, i think, because of our condition and all the machines that we must carry, and all of that will not be easy at all, so i sugested that we can do all the necesary investigation here or in Holland, you know my new work is at department of Neurology, i always wanted to be closer to a field of medicine  that is more connected with our disease, so i offered Mrs.Gilmore my self in arranging all that is necessary to do
without traveling to Rome, so will see what is their answer when we speak with Dr.Miller!!!!!
Please pray for us that we don't have to travel to Rome and get EPI-743 here!!!!!
















Wednesday, May 16, 2012

Holland experience

Hello,
as i said  Prof. Smeitink told me that they are making their own medicine for mitochondrial diseases, i also recently read that they received very big grant in order to produce cure for mitochondrial disease, but how long we will have to wait, do we have enough time? Our condition is only getting worse, never get much better, we are so fragile, we need to be placed in a glass jar, but, that is not possible, that's why we are happy with small improvement like smiles, facial muscle movement, no vomiting etc.
                                                   Nina as Biene Maja




                                              We miss those happier times!!!



Regarding EPI-743 it is like only great wish that we have in this moment that is new experimental drug from the family of quinones, very similar to coenzyme q10 and vit. E, the difference is that it is specially designed to pass through the blood-brain barrier and has very big potential to bind free radicals, so in that way it can save the cells from oxidative stress and death.
There are results published from 1 year study with children with different mito disease and the results are better than with any other medication or supplement so far, there are no placebo treatments because can you imagine giving nothing to a dying child? So, the whole process with getting this medication on the market is very difficult and with lots of bumps in the way. The children treated must fulfilled certain criteria, and they must go through some tests before the treatment, like MRI with special contrast that can show the brain condition and whether the medicine is getting to the brain or not, some blood parameters like lactate levels and so, than 13 week check up, 6 months check up and one year, than, with all the test the doctors can say whether there is improvement or not, of course it should work right away, at least it can help prevent further damage to the cells if there is some bigger energy need like infection, medical procedures or something else, at least you can say that we are giving something, not nothing.

                                                           Darin-baby

                                              All that the heart desires!!!!





So, we founded EPI-743 on the internet, and i contacted Dr.Guy Miller CEO of Edison Pharmaceuticals, the company that invented EPI, they are company founded from parents, doctors and other people, joined together for one purpose-finding a cure for mitochondrial diseases!!!!
I really admire their work!!!!
Dr.Guy Miller returned my mail so we stayed in contact, the problem is that in Europe this medicine can be received only if you take part in this clinical study, conducted by the doctors in Bambino Gesu Hospital in Rome, Italy.
So, i made a contact with Dr.Carlo Dionisio Vici, he is head of the metabolic department, and he told me that the next clinical trial will be in the next 6-8 months!!!!

We are so desperate, we need this medication right away, our condition is serious!!!!!
Then one very dear friend from USA, Dasa Gain, i think you know her from our previous blogs, offered to help us make contact with Stanford University in California, more exactly with Dr.Enns, actually he is the one that is giving the EPI-743 to the kids in USA, so we did!!!!!!!
We have send all translated documents, thanks to Sofija our friend from Macedonia who is a mother of beautiful Darija, girl with refractory Epilepsy, who is struggling with seizures every day and unfortunately no diagnose yet, who did all the translation on English and her friend Assia who is translating from German, they helped us a lot.
We are sewing a net with people with the same faith as ours and we trying to help each other as much as we can, there are also some other people that showed great hearts and souls that are helping us in every way they can, so i will like to thank them again.
Now, we are waiting an answer from USA to see how can we receive EPI-743, we really need it, we would do anything to get it, going in the states for us is very hard, maybe even impossible, please pray for us to get that in Europe as soon as possible!!!!

Monday, May 14, 2012

Happy times

Hello,
i feel so guilty not writing our blog everyday!!!!
We love our blog, that is our life, that is us, so if i don't describe our day it seems like that everything is all right or that i don't have nothing to write about. But, no way, i think that my brain is motorway and my thoughts are running 100miles per hour!!!!!
We can not find apartment and we are spending too much energy on that in this moment, Nina also trow up tree times yesterday and she has temperature, i think that she has symptoms of Methadone withdrawal syndrome, thank God today she is a little bit better, but she doesn't smile too much, i hope she will smile tomorrow more!!!
I said to her that her smiles are giving me wings and energy to fly and that i can be strong only if she smiles and i think she understand that.
We were first time today in the supermarket with the new kinder buggy, but she was angry so we got back home quickly, we are so exited about one ground floor apartment that we  saw, with own garden and with out  stairs!!!!! That is so rare to find, but we dont know weather we'll get this apartment, it is a little bit small(64m2).
For us that is enough but there are some rules for getting the apartment, so, we'll see weather we fit the description.
I hate looking for other apartments any more, it just drains our energy away, i want to spent my free time with Nina and Darin, there are my sunshines, that is mostly why we want to have this apartment with garden, we had in Macedonia one small swimming pool in the backyard and Nina loved that, so i hope this summer that Darin can enjoy that because he really like to take baths!!!









They are so pale, we are like 7 months in this attic apartment and they didn't get too much sunshine.
For us, going on a vacation is science fiction, so we hope that we can trow some party in the garden:-)maybe even get a little swimming pool:-)!!!!!!!!!!!!!! So please hold your tumbs for us to get that apartment and at least we will get some fresh air!!!!!!!

It is very difficult so see your own child loose all the abilities that she had, she had so much power, so much life in her, she was so curious, she wanted to touch everything, smiling all the time, so pure soul, she was so compassionate, and now you see that she will never make all those things..
I is like Tsunami came in our souls and destroyed everything!!!!!!!!!
I am thinking a lot about God this days, i am sure that the only logical explanation is that it is meant to be this way!!! I can not find coincidence or something else, because Darin has the same mutation!!!! and the chances were in our favor not to have!!!!
I read other people's story's and the same things are  happening in very similar way!!!
First your child develops normally, non in your family had some neurodegenerative disease or metabolic and your child gets that from you?!!
Our hearts are full with sorrow all the time and that will never change, only thing that i can find some comfort in, are their smiles!!!
I hope Nina smiles more tomorrow so i will be satisfied with that.


I told you in my previous post that i was in Holland, so there i was with this Professor, hopping that i will get more answers, so i explained everything to him and i think he saw our commitment and how we are so deep in the disease details, and he sad to me 'you did all that you could'.
It is very disappointing to get that kind of answer after waiting all month to this appointment, but i said
'nothing that i would do will never be enough for my children', and i really believe that we must try all that we can and if that is the last thing that we'll do.
I asked him about a lot of things, mostly which kinds of supplements we can give, and i asked him about q10, because it is the most common supplement used for mitochondrial diseases,
so he said 'that doesn't get to the brain', so why all the doctors are giving that?
I asked him 'can we try idebenone?', which is sintethic coenzim q10 and he said 'you can try that but it's very expensive'.
Actually we did try, it is the same price as ordinary coenzime q10, i ordered that from USA because it is not allowed in Deutschland as a supplement, and we saw some results!!!
Nina was vomiting like 4-5 times a day so after two days of idebenone it stopped!!!
It is some improvement, don't you think, she vomited 3 months everyday, and now she stopped!
I saw also improvement with muscle strength, for us it was changing the canulla from cuffed to without cuff and leaving the breathing machine on a brake!!
Prof. Smeitink also told me to leave her breathe alone as more as possible so we tryed, and she is breathing almost 1 month with out respirator.
We got different advice in the hospital where we were last year, even if i knowed that the muscles must practice to work on their own, i believed this doctors so i was susceptible to advises at that time, because we were so afraid!!!
We are still but we learned more!!
Only thing that is hurting me so much is that that was on Nina's back!!!
She is so strong, she went trough so much,
i pray the Lord to give her better health and  more joyful moments!!!

So, i asked Prof.Smeitink what he thinks for the new experimental study with EPI-743, and he was reserved about it, he said that he would wait the results from the study and than he could say more, but for us and other families that is the only hope that we have!!!
Than he told me that they actually make their own medicine for mitochondrial diseases!!
At that time i felt with so much mixed feelings, should i be happy, or sad because it is all in future?

Saturday, May 12, 2012

Hello,
i just saw one link from donations that one young boy needs a heart transplantation and the procedure costs 330 000 euros!!!!
It is so heartbreaking! Does it reallly means that today you can buy your health with money? Definitely, the world is changing now, and there are so much new possibilities and technology, but of course the rich people will have maybe better opportunity to acquire this expensive technologies. But, i know that human genes are under big strike in this modern world and they are showing that they need help, also i beleive it is one way that God is showing that we need to change something in this world, to unite our selves over bigger things like finding a cure for incurable diseases instead of making weapons and trying to control the world, but the world needs more time to see that, i hope it is not too late for all of us.
For us this means also struggle finding a cure for our disease, or something that can change the course of the disease.


                                        Getting used to the new therapie chair






We decided to call it school chair!!!!

There are so much families fighting mitochondrial disease, and they are very active regarding finding a cure, they raise awareness, they help each other, they raise funds, they stimulate the doctors to search for a solution, they engage private labs and specialized companies to work for them and to find a cure so that all of our children can have future.
That is not only important for those who have mito disease in this moment, i don't know if you know that new researches shows that some diseases like Diabetes mellitus, Heart insufficiency, Parkinson, Alzheimer and more others are in fact mitochondrial diseases, but they usually appear in older age so nobody cares what is the origin of this disease and in the moment there are good enough medications that can control these diseases.
There are also some conditions like chronic fatigue, that doctors usually conected this condition with stress, but these are in fact mitochondrial diseases, because they can not produce enough energy to supply the body for every days needs.

Here are some examples how we can feel this energy need and believe me that this is connected with our mitochondria

1.Do you all need sleep?
Yes, of course, our brain must rest and the muscle can be overheated, so our brain is sending signals to our body that we must sleep, or you can take energy drinks and postpone this process, on chemical ground of course, but they are caled energy drinks!!!!They have some chemical supstances that help the mitochondria to work better.

2.Do you work out?
not everybody, but the ones that do, sometimes take additional supplements that can help them train better, with more strength and overcome the feeling of tiredness
I would like to mention L-carnitin, Creatin, Taurin an others.

3.Why the Vitamins are caled Vitamins?
that means from Latin life acids, why do you think they are so important? Only because their role is energy production in mitochondria and nothing else, the human body can not produce all of this cofactors or not enough, so we sometimes need aditional vitamin supply!

4.What food can make you feel fresh and with more strenght?
Sweets and sugars of course, but you need mitochondria to brake them into the life giving molecul-ATP
If you have enough vitamin supply this will maybe make you better, but have you tried sometime eating one full cup of green salad? or, two or tree oranges for breakfast? or some other salad with olive oil? I, for example eat everything and too much also and every time i eat too much i feel tired and not really full of energy, that is because my body must proccess this food, must neutralize all the toxins coming from this food and for that i need vitamins and mitochondria, you spend your supplies and you feel tired, so, sometimes i just feel the need to eat one whole green salad or cucumber or tomato, something that can give you this fresh feeling, and in fact you need something that can help the mitochondria


Why am i writing all this? Because these things are too important and we don't have sufficient or i may say we don't have at all, a medication that can treat mitochondrial diseases.
I think that people must take more actions, with this i want to adress first to parents that have similar faith like ours, their friends and families, but also everyone that can contribute in some way.

I had an appointment in Holand in February, with Prof.Smeitink in Nijmegen Centrum for metabolic diseases in children, he is one of the players in the world for mitochondrial diseases and he shared the world news for mitochondrial diseases with me, i will continue this subject in my next blogs.


Friday, May 11, 2012

Baby steps


Hallo,

We had a lot of things to do this couple of days, and we did not have enough time to write,
we really enjoyed our children's birthdays and smiles on their faces, so we hope that this good feeling lasts forever, i finished with work, now i must focus on getting the papers ready for the new job and new environment.





 The apartment that we wanted is not available, the landlord said that he doesn't want family with children!!!!It is easier if you have animals, maybe!!!! It is so frustrating to hear such things and people's cruelty, i already arranged transportation and some workers for moving next week, and to be precise on 20.05, my birthday! 
But i don't care it is a good thing also, we are so behind all the celebrations and joying all kinds of things that people normally do, and it is just the way it is.
The world is a funny place anyway, so we are involved in new apartment search!!!!
Nina was really a princess today, we put her in the new therapy chair, i think she liked it, i told her that this is chair for learning and that we must buy some books to read and learn from, she smiled!!! She always wanted to write and draw and to learn, before all this happened!!!!!!We are trying every day to put her more in sitting position, she started to make more facial muscle movement and we are so happy!!!It is funny to which things we are happy about, but it means world to us! 



We was supposed to take Darin to his vaccination this week, but we decided that we won't do that, i know that the vaccines in Germany are acellular, which means that only antigen from the diseases is present and can only stimulate the immune system to produce antibodies, and not actually cause the disease, but anyway we won't do it!
We are looking at him all the time, we treasure every moment with our children!!!!




Wednesday, May 9, 2012

HAPPY BIRTHDAY PRINCESS NINA! SREKEN RODENDEN SREKICKO NASA, DA SI NI ZIVA I ZDRAVA I SAMO SO NASMEANO LICE, TE OBOZAVAME UBAVICKE NASA, MAMA ,TATO I BATO DARIN!

Hallo,
this couple of days we are full of joy, today is Nina's Birthday so everything was about that,
Mama made cinderella cake and it was very beautifull but not as close as princess Nina is:-)




Nina also received today her kinder buggy and therapy chair but the nice man that brought that to us forgot to bring the tools so that we can adjust the hight and widht, but we managed somehow with the kinder buggy.


At first, Nina liked it very much and she was smiling but than she felt pain i think because she is not use to sit a lot, we hope that with this chairs we can put her more in sitting position and that we can go around a lot. It's a little bit heart breaking when your child gets weel chair for birthday, for that our hearts are filled with sorrow and anger, but on the other hand i really like everything that can help her in any way. So, we dressed up, we ignited the candels and we blowed also, it was realy wonderfull feeling, watching my daughter at her birthday with the cake and all!





We are making a lot of things between, we are trying to contact lawyers, social workers, insurance experts, i work untill friday and that's it, also for this new job it is a little bit comlpicated with the papers, maybe i will have to pass the german doctors state exam, the things have changed from 01.04.2012 but we will see, the only problem is insuranse, as always, i realy hope that we won't stay without one.










However, i dont care too much about this things, i realy can use this free time untill my next job to be more around my family, to think about the new ground appartment with garden, to think about nice things, we also have to move out, that will be quite a chalenge, but we'll see.