Monday, April 30, 2012

You see love!!!

Hello,
We've dedicated yesterdays post to Morgan, i hope you like it, so we had some more time to write and explore other important information about mitochondrial disease, it is not easy to spend so much time on the computer when you have children that needs you all the time, but till now it was our only window to the outside world, and when your kids have mito you actually become also part of this world, mito-world. It is a terrible world, surrounded by suffering, dedication and sorrow, you read very often about some kid that has left this world, and that make you sad and helpless, you see other children everyday and even that they are not yours, you joy them and their health, their childhood, knowing that your own will never have this things, you remember your live as a kid, your own memories come to life and you tell them to your child hoping that she can explore some of that through your eyes. But, this mito-world is also wonderful, you see something you didn't saw before, your senses start to catch different waves, you see how parents are struggling for their children, you see how children are fighting, you see courage, you start to think different, you became brave, by watching your children fight, you see how people are joining together, how are trying to do more that they are capable of, more for their children, making different kind of things than other parents, with one word, YOU SEE LOVE!!!!!!


                                           Opening gifts for New Year
                     


                                                 Always ready for play





                                   Every princess must have a horse


You know all that i write comes in front of me just when i start to make new post, its like it was all there but there was nobody to share with, now i realy understand the urge of other people to write about their life, i always thought that its a little daring or not quite appropriate to write about your private live but then you say, wait a minute, i had enough time in my live to proof myself untill now, to left mark in this world, but what about my children, to whom they will tell their story?
Nina can not speak and she had never realy mingled with other children, who knows about her?
Nobody really asked about her and her condition, the people that know us in their lack of medical knowledge maybe think that it's just the way that is, or maybe things will be alright just by themselves, or i even think that people don't want to catch a bad luck, having fear for their own, but this can happen to everyone, don't just stand a side and watch, give this people your hand every time you see them, this are brave people and children, they worth more than you think, and maybe you can ask your selves are they worth more than YOU do? Because of this things it was very difficult to live everyday live and speak about children, especially when you know that other people doesn't understand your situation, but i knew, i saw her changing in the brain on the MRI, i knew that it was not only a common cold and that everything will be alright, i was afraid of the term progressive disease!!!! We went to a lot of doctors by thinking that if we know more about our disease that we can do more, and some doctors even tried to change our minds not to search for an answer, because the disease was progressive!!! But how will i live knowing that i didn't do everything in my power for my children? For me that means betrayal, you made them, they are yours, you owe them!!!!


After we got back home with Nina as in our prevous posts we were so happy that we can actually hug her in a normal way, sleep by her side and to enjoy everything togheter.
It was New Year and Christmas celebrating time but our fortune has turn against us one more time.
As i described Nina is taking Methadone and after hospital we start to reduse the dosage. At first we gave her one drop less every 4-5 days and she didn't really react on this changing but at 31.12.2011 she start to sweat profusely and we measured her temperature, it was 41 degrees Celsius! I now that Methadone is powerful drug, but she had couple of times withdrawal syndrome in hospital that lasted 1 day with horrible manifestations but it happened right away after lowering the i.v doses, and now we didn't know what is happening, so new year was the start of a new battle. We took Nina to the hospital but this time we stayed only ONE MONTH!
Our journey continues!

Sunday, April 29, 2012

Our little friend Morgan and her prayers for other children,including Nina

Hello,
today we would like to share a moment from Dasa Gain's life, she is a great friend and inspiration for us,she is helping us to get EPI-743 from USA,so please read her story

http://thefightagainstalpers.webnode.com/news/keeping-a-promise-finally-a-medication-to-treat-alpers-epi-743/#.T3as-AOb_xM.facebook


With this balloons Morgan is sending prayers and wishes to the sky and heaven for her friends for their dreams to come true


Nina-prayer to get EPI-743 soon






Morgan-one year seisure free,we pray to stay that way







                        



There they go!!!








Saturday, April 28, 2012

Nina and Darin just before our trip to Germany

Nina and Darin just before our trip to Germany





video

We saw this video now and it just teared our hearts out,she is kissing her younger brother,she loves him!!!!!
                                 This is only thing that we want, together, hugs and kisses!!!

Thank you for your prayers



Hello,



 We received a lot of messages this week on our FB inbox, I like to thank you for your support, this means a lot to us, I am sorry that I cannot return all of your messages but I want you to know that you are giving us additional strength in our struggle to continue, especially I will like to say that everybody that wrote us had some meaning in our previous live and I can say that only a pure soul like yours can offer their help to somebody that need it, so thank you again.








  So finally we were home!!! We were so happy and excited that we are in our apartment (then just with few pieces of furniture just the necessary things for the first time) first time together at home, after we came in Hagen and after long time in hospital in another city. Everything was strange, we had nurses coming to our house, all the time with somebody, a lot of people from different companies were coming every day, because we needed a lot of things like:




-two respirators connected to electricity all the time
-different kinds of filters for the machine (changing every day)
-tubes for the respirators
-two suctioning devices, also connected to electricity all the time
-tubes and filters for this device
-oxygen concentrator (big device) connected to electricity all the time
-tubes for oxygen
-inhalation device (4 times a day)
-mobile oxygen bottle
-ambu bottle
-suctioning catheters (we are using 900 pieces every month, at first we were suctioning up to 100 times a day)
-tracheal canullas (changing every week)
-wound care (tracheostoma pad, disinfection solutions, neck band-changing every day, sometimes twice a day)
-device for pressure in the canulla cuff
-different sizes of syringes
-flusters
-wet noses (the little things on Nina's tracheal canula that purifies the air and preventing her to inhalate bacteria 
-emergency speculum (if the tracheostoma collapses)

After we get PEG GJ tube also
-two nutrition pumps, one connected to electricity all the time
-different connectors for the PEG GJ tube
-nutrition specially designed milk formula with 1,5kkal pro 1 ml
-tubes for the pump (changing every day)
-pulsoximetar (measuring heart rate and o2 saturation)
-finger pulsoximetar cable (changing every 2-3 days)
and a lot of other different thing, as you can see we need a lot of electricity and tubes!!!!








So to get all this we had to go trough a lot of things, and i just wanted to be with my kids!!!









  The medical nurses that were coming to us every day were a little bit NON professional (I mean non professional, one of them even came with her daughter with running nose, and for us new infection is something that we should not afford) so with time we decided that they are not such big help so i told them not to come anymore, now we are taking care of  Nina on our own, that means a lot of engagement, we are sleeping together with Nina all the time, and if we sleep couple of hours nights we are very happy! Oh, i didn't mention all the alarms that are peeping around us, actually the machines are doing pretty good job, we can now only look at the pulsoximetar and we know when Nina has pain or she is just angry, also when she sleeps deep or something else is wrong!!!
I thought what can we do if something happens with power supply, luckily, that is not happening in Germany…  till now!!!
























Friday, April 27, 2012

Nina is Home!!!

  Hello,
  I should propably give titlles to our post but I can update'em afterwords. I would like to describe our story continuing from the post from before yesterday, as I said we stayed 50 Days in hospital!!!!

   You know, in the last week the doctors in this hospital started to suffer from us, they just didn't want to accept that we now something about medicine, even more than some of them, so they called a psychiatrist to come and talk to us and try to convince us to take it easy with them because THEY were scared from us and it was inconvenient for them every time we talked, we were having too much questions??????????
   But of course we had questions, that was my daughter laying in that bed not their children, they also didn't want to give us another room after our condition was stable, they were seeing us that we just don't have any more strength standing in this room and sometimes sleeping in a chair (that was luxury), but  Nina was the one that gave us energy all the time.



 After her tracheostomy she was connected all the time to a respirator, the doctor that was responsible for respiration actualy only convinced us to have tracheostomy and never come again to see his litlle patient, we were looking for him in his other department and they were accusing us that we shouldn't do that, but nobody wanted to give us guidance what should we do in the future, they didn't even thought that Nina can breathe alone. So we started to make pauses with the respirator, first, everyday 1 hour than more and so the last two weeks Nina was breathing without respirator!!!!

 We were so happy, nobody gave us instruction what should we do in future so we had to learn everything on Nina's back!!!  And this hurts so much, every time we have to change the canula, every time her tissue starts to bleed, every time we change the compress and clean the wound, she is crying,  we now that she has pain its just so hard. We had also unpleasant situations when the canula just don't want to come out, so you pull strong because you must do this quickly, if you make to much pressure the surrounding tissue will swalow and then you can not change the new, clean cannula, the tracheal channel can collapse, and she can stop breathing!!!!!


So, after they let us go home, first, they did not want to do this without a nursing care, sometimes you must wait 3 months till somebody takes you, i did found one, and we agree that they will come in 14.00 hours on 12 Decembar, the day that we leave this hospital, and you know what,they didn't come!!!













                                                          Nina and her friend Hannah

Nina was dressed up, and first time after 50 days in Germany Nina was able to go home in our new apartment!!! But this terrible nursing care people didn't show up, the medical transport was here and they didn't want to take us because there was no nurse to go with us, i said that i am a doctor and a parent so what more they want!!!We put big struggle again and finally i convinced them to go home!!After 45 minitues we were home,NINA IS HOME!!!Our journey continues tomorrow !!!



Thursday, April 26, 2012

Everyday looking for answers(cure)

   Hello, there are not so many children in this world with mitochondrial diseases but they are going through horror, for example our Nina only looks at the floor above her and i put one big poster with Disney princesses there because she likes the princesses very much, she knows everything and understands everything but she can not do anything because of her disease.She can not eat, swallow, drink, talk, move her eyes, arms and legs, only thing that she can do is crying without voice!!!!(she also smiles sometimes):-)
   I like so much to change with her, i want to lay in her bed, I prayed to God every moment to take my health instead of my children's and that will happen I am sure but first i must go through this horror of seeing my children suffer. It is something that nobody deserves, I think, so where are now all the things that people are often talking about, mad about, this little unworthy things, that are happening in their lives. I see every day at my work at the hospital people with different stories, but it makes me angry every time I see somebody that is not so sick and  pretend to be and is never satisfied. Also everyday, people have interest in so many terribly dumb things, I was never that kind of person that wanted to take part of this everyday crap, but I guess there was a reason for that, now i don't have a second free to think about other things except my children!!!

  I think all the time about their disease a think about every process that's happening in their body, I imagine how every molecul reacts in their body, how the bad DNA transcripts bad information to the mitochondria where it doesn't make protein compound called citochrom c oxidase, how we can repair that. For example one way will be so that we can bring some kind of virus in the cell core that can transmit one specially designed DNA allele (the one that we need!!!!) to our DNA or nanobots that is also a possibility but it will be a little bit hard to get to every cell in the body, but we don't need that everywhere, only in our BRAIN!!    The other parts of the body are resistant enough for this energy suffering and maybe is possible to live with that, only we can not work out too much, but that is not so bad in exchange of LIFE!!!!
This is one theory that i have, but to make that we need a lot of smart people, a lot of technology, a lot of money and a lot of time, and we don't have nothing of all that!!! So how can we do it? My second option would be that we can programm stem cells and send them to the brain and that's it!!! But for that we need also what I mentioned before, so what can we do for our children? You know the disease is progressive and never goes back ,maybe a little bit, but what will happens when the next big energy need comes? Which would be for every other children some running nose,or fever that goes with paracetamol and i don't want to mention more difficult thing like puberty!? The third option would be to bring some molecul in the mitochondria that can save her from all the oxidative stress that happens when the respiratory electron transport chain doesn't work (for us is because there is not enough citochrom c oxidase or complex 4 and for other children something else) and not let her die, so when the big energy need passes by, the cell stays alive.


  People are doing a lot on this third field, for example I am making contacts with Edison Pharmaceutical from California,USA, they did pretty remarkable job by making one molecul from vitamin E witch is caled Alfa tocotrienol quinone and as we know it has the same abilities as vit E and that is to work as antioxidant, meaning to reduce oxidative stress in the cell!!! It has also similarities with coenzim q10 and it belongs to the same familie of quinones. The difference is that has 1000 times more strong capabilities to bind free radicals, they are giving this experimental drug to only 20-30 children in the world and is very hard to get it , for example there is only one hospital in Rome that has tried that to 10 children in Europe but the next clinical trial will be in the next 6-8 months, we really hope that we can get this medication sooner, for us its like 6-8 years!!!!!!! One of the problems is that we can not travel with Nina because of her condition, all the machines that she is connected to, so maybe we can find some medical airplane transport and go where we need!!
This medication is called EPI-743 and I would recommend to all parents that are having mito children to read about it and make the genetic testing and confirmation of their children's disease because that is only way to even think about their children getting treated, also you need 100 000 $ bank guarantie for treatment in USA so please don't sit and wait for miracle, please do what ever you can for your children, they deserve it, go to another doctor and to another, do a research of your one, don't stay in country that doesn't give you option and wait that some asshole doctor would do something more for you,
 I think some parents from Macedonia know to whom i prefer!!! The same is in Germany I refer this to our friends here with kids with special needs also (i can only say that USA has gone more far in this problematic than the rest of the world), make your doctors fight more for our children, its their job.This diseases are so rare and not everybody knows what is mitochondrial disease but the number of affected children is rising every second, its the disease of 21 century with all the flows of this modern world that we're living in, but is difficult as all other incurable diseases and there are just no cure options!!!
  I would need some time to understand our blog more and I will eventually make one net of information connected with mitochondrial disease, of course first about Leigh disease and then the others, feel free to ask me anytime you want about other mito disease also, I think i have pretty good picture what is happening and i will try to help you with my knowledge and information. For now i would like to say by from us, in this moment my precious family is sleeping, I  love them more that anything in the world, I hope that they will have good rest so I can play with them more!!!



Wednesday, April 25, 2012

Aftershock

 



  Hello, today is worse than yesterday, we are really coming to ourselves and seeing that it was not a bad dream, our kids have mitochondrial genetic defect and Nina has the disease, Darin started to show some imbalance and insecurity, so I don’t know if the disease is starting to show signs on him also. We stare all day and look his feet, hands, eyes and it is like we are waiting to see that something is wrong.  That was also the case before we received the results, but now that we know it’s like waiting for the disease to come. There are no words to describe this feeling, knowing that nothing will NEVER EVER be all right !!!!!!!!!!    

I apologize to you, our friends and people who are reading this, if you see that not every text is connected, it is because there are like thousand thoughts going through my mind all the time, my brain searches for an answer and is restless, my body just moves so that I can finish my daily routines and I keep thinking for solution, but there isn't any!!!!!!!
You know, we are not like other people, we are not angry when our children makes some mess; instead we are full of joy when Nina smiles at us sometimes. This is the only way when we know that she doesn't suffer in that moment, or doesn't have any pain.
 Nina is taking L-polamidon or more known as METHADONE. She is addicted because she was intubated for one month last year in October. This happened the next day when we arrived in Germany from Macedonia!!! She was so happy an excited about our trip to Germany. Sadly, all that she has seen in Germany since our arrival is suffering. 
We came late that evening and we were all exhausted from the trip. The next day we saw that something was wrong with Nina, she was very tired, she couldn’t open her eyes very well, couldn’t eat or drink, she threw up couple of times and I knew that we must take her to the hospital. We had to travel to a nearby city because it was the only hospital with neurology department for children in this region.
There, they measured her blood gases and saw that CO2 levels were high and they intubated her!!!!  What a shock!!!  We couldn't imagine what was happening to us, our beautiful Nina intubated!!!  So they told us that we can make a MRI in Monday (it was Saturday when we came) and that we can make muscle biopsy probe and use this time while she sleeps in order to get the right diagnose and then they can extubate her and hopefully everything will be all right again!!!   BUT, on Monday they started to ask us questions about insurance, money and similar things like who will pay and because of these things we had to wait one week to make MRI and another week to make muscle biopsy.


 During all the time our sweet little fighter was sleeping with sleeping drugs. Her blood findings were back to normal and she was metabolically stabile but she was still intubated, with central venous catheter in her neck, receiving opioids for sleeping and other things all because we didn’t have insurance (we  did have travel insurance and insurance from our home country) but we had to pay the costs to get this diagnostic procedures. Because of all of this, our situation became even more complicated  and we STAYED for 50 days !!!!!!!! I often wonder if everything would have been different if then I just said: NO, no more examination for now, we go home and we will come another day in your ambulance!!!!! But we thought that we were doing what is best for our daughter and we didn't know that every day in hospital is doing us more harm than helping, and after the first 14 days there was no way to get out of this hell so easy!!!! 
They tried to extubate Nina 3 times and had to intubate her again because all of these medications and procedures were suppressing the brain centers for breathing and she lost a lot of her strength to breathe alone.
   Than we had to make tracheostomy and she was connected to a breathing machine all the time!!!   We were like guards, looking every heart frequency change, every breath she would take, everything that the doctors and nurses were doing ,and believe me they couldn't also get along with us so easy, we were fighting every day with all material things around her and all the universe, so that we can do what is best for her. They took her blood samples like 1000 times. Her little fingers were brown all the time, there was no more space for another blood sample. This is what mitochondrial disease makes to children. We had to persuade the doctors to show us what they are doing, not only looking at the numbers and not even seeing Nina, and there was also the insurance problem.


 So I started working. Every day from intensive care unit I was traveling to another city just so that we would be able to get insurance and these things take a long time. We were foreigners and we had to wait for everything and go to a lot of institutions to leave documents. During all this time Nina was laying in bed and waiting for her parents to do something for her!!!!


 The bill in hospital reached 100 000 Euros. We had to engage a lawyer so that we can try to decrease this amount by half because the marathon-stay in hospital was not our fault, they simply did not want to let us go without knowing how we will give them their money!!!!
Our story is very long so we will continue tomorrow. Please, do not hesitate to leave comments on our blog. We would like to update this blog even more so that other parents can read it and we can all become more aware of mitochondrial diseases!!! 




Tuesday, April 24, 2012

Nina,our strenght

Hello again,
second day after the shock is also pretty bad but somehow some people wrote us and with good thoughts i think we are o.oooooo1% better than yesterday and we are more determent to continue our struggle,so i will start our story 2008 when Nina was born.



09.05.2008 it was the luckiest day of our lives, my wives pregnancy was uneventful and she delivered to earth this beautiful child Nina, i knew from the beginning that she is wonderful and somehow special, and she is still to us, she gave us unforgettable moments and we are enjoying every moment with her.


you know
i was looking at other children at that time and i was so proud because my Nina was the most beautiful of them all!!!

then she grow up to be a big lady ,i wonder were ist that time now ,how can i go back and seize those moments? i guess there is no way because those moments are the time when we were happy!!!
than came the first kindergarten virus and when she was 1 year and two weeks old,she hat viral infection with high fever for 8 days,we gave her all that was necessary for her condition and it was all gone!
But not all was gone,she developed tremor on her arms and legs after two weeks!!
At first my wife told me that she noticed something unusual but i said come on nothing is wrong,but something was wrong,something that took us 2,5 years to find out.It is called mitochondrial disease with summe of the symptoms presenting as leigh disease!!!!at first i was terrified from this name but now i see it doesn't matter,the disease is terrible in every way!Our mitochondria are producing energy for everyday needs but bad mitochondria can not do much when the body need extra energy,for example viral infections or other stress,instead they produce more metabolites that the cell can eliminate,like superoxides,peroxides and another bunch of molecules and this process is called oxidative stress!!!!!!!!!!!!!!
Then the cell has more that she can handle from this outlaws and she said:ok,that's enough i can not do this any more and unfortunately,the cell dies!
The problem is that this happens in the brain were the cells needs a lot of energy,and as we know there is no way that this cells can regenerate!
After this event Nina had to go trough hospitals, different doctors saying different things,magnet resonance,eeg.echo,blood examinations and a ton of things that not every child wish for and also parents,but that was only one little part from what she is going trough right now,so we stayed with only Gamibetal(GABA)
witch reduced her tremors and Nina puled out of this mess!!We were so happy that everything was gone but we still didn't have the right diagnose and the fear stayed in our hearts!!!!!






So,here are some other pictures from our sunshine and trough pictures maybe you can see how beautifull and happy she was and how precious is she for us:-)



























Our journey continues!!!!!













Monday, April 23, 2012

Sharing our destiny to the world

Hello,today we got the results from our son Darin genetic testing and he has the same two mutation as his older sister Nina,our lives have turned upside down many times but this is the top!!!We are devastated whit the fact  that we have give the bad genes to our daughter and she suffers from mitochondrial Leigh disease(complex 4 deficiency) and she had only 25% to get that from us and also the disease is so rare,some say one in a million!!and now our son the same 25%,so i think with this all our nightmares came true, all our fears are here !!!!  This look like somebody else life with terrible destiny to see how his own children suffer.
I've read a lot of parents blogs and i can say only that this are the strongest,the most desperate and loneliest people on this earth!!this include us !!! This is my first blog and i am new at this and i will write more and we can describe our lives more in next blogs!!!


Family Dimkovski