Saturday, June 30, 2012

Hospital tourism and pneumonia

this two weeks were very intense and full with real sorow, our sweathearts suffered again!!!
First Darin started caughing,then continued with runing nose, we started giving antibiotics right away and we powered up the antioxidant suplements,it was a viral infection but we wanted to prevent any other bacterial infection,after five days our Nina started caughing very often and very strong, i was afraid that she will get some bug from Darin but i did not put too much intension to it because they are not getting really in close contact, but it seems like that we transmited that to Nina.

                                           Getting ready for fussball(before hospital)

                                        drawing and waching the Beauty and the Beast        

We were not sleeping hole night making suction because she was irritated all the time,so i said for the next day that i can wait for Nina and us getting some sleep.
Instead sleeping and resting from the intense night, Nina's heart rate start to rise,from her "normal" 150 b/m ten units more every hour.
I knew that it is a sign that something is worsening, like fever which she had only 38,5 at the time, or the infection is spreading.
We were very nervous and afraid and i think Nina felt that also, so she was reacting with additional stress to her condition, so the heart rate start raising like 10 units every hour, and we get to 190!!!!
I called the metabolic specialist in the university clinic and i was discussing what can we do, than Tanja called me to tell me that frequency has raised to 200b/m!!!
We took Nina right away to the hospital, we knew that we will be admitted so we packed our equipment.
That is why the tittle of today's blog is hospital tourism! This is third different hospital that we stayed in in the last 8 months!!!
Her oxygen level was also droping so i was in a hurry to get in the hospital and do what is best for Nina!!!
And we hate hospitals so much!!!
I know that they will try to get venous line, and that is a lot of stabing because Nina has always cold hands and feet because of her vegetative disregulation, and than probably they will say that she needs central venous catheter and that means sedation and other things like respiratory disfunction and the breathing machine and oxygen and for her all that stress is very dangerous!!!
I spoked with our doctor and i said if we can not get perifer venous line we won't make CVC also, he agreed, so they tried to put the bromila but they got only blood for examinations and could not put it in.
Than we were admitted to the department and other doctor did it, i felt relief because of that, so we start giving
glucose and fluids, also we made ECG and ECHO and everything was all right with our princess's heart.
Now we must struggle this coughing that was taking her energy!!!
The blood results showed normal metabolic levels and also no significant signs of an infection!!!!!
We spoke to the doctors that if everything is all right with her fluid and food intake over the PEG-J tube we can go home tomorrow!!!!!

We slept at the hospital with my wife, but that is only a matter of speaking, actually we did not sleep at all,Nina's coughing was getting worse, she put effort for every cough and it just teared my heart because i know what it means for her disease and condition all that energy going away for a stupid thing like coughing!
The next day they took blood early that morning, i was sleeping at that time, it was 09.00 hour and i lost my consciousnesses about 08.00. 
They did not tell us about the results and than two ladies came in our room with mobile roentgen device.
They took the picture and after some time the doctor came and told us that Nina has bilateral pneumonia!!!
She never had lung infection so severe to bring pneumonia, and i also did not believe it.
I asked them about blood inflammation parameters, more specifically about CRP and it was 8 mg/dl so it showed pretty high bacterial inflammation parameters. I was still not convinced , but we started giving intravenous ceftriakson, and i told them to make PCT(Procalcitonin) tomorrow, because it is the only sure parameter that the inflammation is from bacterial origin.
The second night was also pretty bad, coughing was slightly reduced but her energy was very low, her eye lids were swollen and heavy, she could not look at us very good, and i don't want to mention that there were no more smiles!!!
Smiles are the only thing that are giving us strength to go on, i am really scared how all this will affect her after, and will she ever smile at us again!!!

                                                  tired face, but beautifull heart and soul

The doctor told me that he received the protocol about getting EPI-743 but he will also have to present to his superiors and i don't know when we can start with.
I said to myself, we are so close to receiving the only thing in the world that is medically, scientifically and in laboratory conditions made for mitochondrial diseases, and now this pneumonia!!!!
This night she was more and more exhausted from everything, she did not coughed so much but it was obvious that she spent her energy on that, next morning her PCT levels were showing high levels and indicating even sepsis!!!!!
After the second dose of antibiotics,she did not cough so much, so i told the doctors that we will like
to go home tomorrow even with so bad lab results because we can not do much there also, and she needs home atmosphere, so next day we went home with pneumonia!!!!!!!!!!!
We continued giving oral antibiotics and we still do, but Nina was so exhausted that we had to change the canulla with cuffed and put on the breathing machine. We had progressed a little one but still in the last couple of months, and now, my baby is still weak as in January, i hate this disease, it just do not allow you to get better because even one infection is bringing you two steps back.
Because of the breathing machine we had to give Nina chloralhydrat for sleeping because she is not used to it, and she slept hole day and night!!!!!
The next day we hoped for smile but the first little smile after whole week was in the afternoon!!!!!
Today i went to the store and i bought sand so that Darin can play in the garden and one bench so that we can feel like we are in the park.

                                            really busy playing with sand

                          Nina enjoying fresh air in our garden that looks like park

Nina's oxygen level are better, her CO2 level is getting slowly to normal, but she is very very tired.
We hope tomorrow she will give us more smiles!!!!!!!!!!

Wednesday, June 20, 2012

UMDF 2012 Conference

i like to inform other mito parents about the latest news from United Mitochondrial Disease Foundation in Capitol Hill 2012, i have the information from other parents that participated on this very important meeting,so here they are

1.Email from Jennifer and Joe about UMDF 2012 Symposium

Dear Tanja and Blasko,

The UMDF symposium was fantastic. We did not join the group on Capitol Hill but did attend the family sessions last Friday and Saturday. It was very informative and a great networking opportunity, meeting the doctors and other families affected with mitochondria disease. The keynote speaker at the symposium dinner was Dr. William Gahl from NIH in Bethesda, MD. His speech was excellent, but I have not been able to find it on YouTube, the UMDF site or the NIH site. His group can be found at the following website:
He presented several examples of what his group has been able to do in combating rare diseases, including Leigh’s. He had several slides on EPI743, and one particular slide was very interesting, and encouraging about EPI. In that slide, he showed the effects of treatment on Leigh’s patients; specifically, treatments using the often used CoQ10 treatment and EPI. His study showed an 8% on average improvement of patients using CoQ10 versus an astounding 80% improvement with patients who are using EPI743.
Dr. Enns presentation was a review of EPI743 to date and how patients are doing post-protocol. Currently, there are 120 patients using EPI743 and thus far, no significant side effects. There have been some upset stomachs to start and a slightly elevated heart rate (Samuel included) for other patients. There have been 5 fatalities, but four of those were patients whose parents chose not to perform a tracheotomy (he didn’t say this, but this is information we learned from speaking with parents). The other was a non-Leigh’s patient. Dr. Enns showed a video of a patient from Hawaii who was severely affected with Leigh’s, like my Samuel, and his progress after starting the protocol. After 8 weeks on EPI, the boy could stand with support for a few seconds. After 13 weeks, the boy was shown attempting to take a few steps with assistance. At 20 weeks, the video showed the boy walking across the room in a wobbly manner. Truly amazing. Enns did note that this was an exception and that each child is different, and the EPI results depend on how far along the disease had progressed prior to beginning EPI and which gene mutations the child had.
At the conference, we met several families with children who had Leigh’s and two of the families had children on EPI743. Samuel was the only patient at the conference who was currently taking EPI743. We met a wonderful man from Hong Kong, who flew all the way to Washington to meet Dr. Enns and Dr. Cohen to hopefully get his son enrolled in the protocol. We saw video of his son, who is bedridden and desperately needing the drug. The problem is trying to get the drug in Hong Kong for him. Dr. Enns really wants to help, but it may be difficult due to the medical requirements needed for the boy to be treated in Hong Kong.
Regarding your question about vitamin E, Samuel is no longer taking vitamin E. When Sam started EPI, we were told to stop nearly all other supplements, including Vitamin E and the Mito cocktail. When Sam started the EPI, he was also prescribed Leucovorin (2ml @ 10mg) three times daily. Leucovorin is folic acid and is now a recommended treatment on the UMDF website. Two months ago, Sam started taking L-methionine (1/4 tsp three times daily), which is an amino acid, recommended by his mito doctor and approved by the EPI team. Currently, these are the supplements Samuel takes (the times given are our decision, and the time of the day which works best for our family and Samuel):

EPI743 (7am, 3pm,  11pm)
Leucovorin (8am, 4pm, 12am)
L-Methionine (mixed with overnight feeding, lunch and dinner)
Pulmicort (0.5/2ml) at 0900 and 2100 (used in a nebulizer to keep his lungs clear)
Tricitrates (Polycitra): 7ml mixed with food (overnight feeding, lunch and dinner)
Singular (4mg powder packet): Once a day, used to help prevent illness from beginning in mito patients
Lansoprazole (prevacid): 1.5ml before lunch and before night feedings to help prevent reflux
Eye drops (Sam suffers from dry eyes) and Nasonex for his nose (for allergies/pollen).
PRN: Benadryl (5ml) for vertigo (something which works great when Samuel gets vertigo episodes)
Of course, every patient is different, but this treatment has been working well for Samuel. Only the L-Methionine has been added since he started EPI. L-Methionine can be purchased from any health food store. It is often used by athletes for building muscle.
We hope all is well with your children. We enjoy reading your blog when we can. When will your daughter begin taking EPI?

Joe and Jennifer

2. The Martin Family's blog
and their seeing and  participation in the symposium(only one part,the rest you can read from their blog)

Friday: Conference Day 1
Session 1: Welcome & Managing your Symposium Experience. Heard from UMDF Chairman Dan Wright, who incidentally is from Dallas, Texas, as well as Chuck Mohan, UMDF CEO.
Session 2: Maximizing our Mitochondria on Capitol Hill and with National Institutes of Health (NIH). Director of NIH Office of Rare Diseases, Stephen Groft.
Both Session 1 and 2 were basic info on UMDF, what happened the day prior for those who couldn’t attend and articulated the process that researchers must endure to even prove treatment might work. On one hand I appreciate groups like the FDA – it keeps us well regulated – but on the other hand I wish they didn’t require so much red tape. It just makes everything painfully slow, especially to those like us.
Session 3: Mitochondrial Disease – What is it and what are the potential therapies out there? By Sumit Parikh, MD.
I wish I could have stayed for this whole session. I had to jet out early to catch the next one on EPI-743. Dr. Parikh is extremely well-spoken, animated and talks in layman’s terms without being condescending. Things I learned:
·        Our Mito actually form super complexes. Think of it like a highway. They form these incredibly long or short complexes for our energy to travel out of Complex 1 – 5.
·        Mito can “talk” to the nucleus and other mitos. The mito is tethered to the walls of our cells. This talking can lead to problems which leads to disease.
·        Primary Mito is an mtDNA or DNA problem; Secondary Mitochondrial diseases is something like Parkinson’s or Cancer. The mito disease is secondary to the other diseases but plays just as important of a factor.
·        As our Mito age and die, that’s why people die of natural causes.
Session 4: Clinical Trials and EPI – 743. Speakers included: Greg Enns (EPI-743 /Stanford), Ron Haller, Michio Hirano, Fernando Scaglia and Peter Stacpoole (Phase 3 of CoQ10 and how it works in Mito kids & Phase 3 Trial of Dichloracetate for Pyruvate Dehydrogenase Complex Deficiency / University of Florida).
Side note, there was a session on “The Mito Cocktail: One Size Doesn’t Fit All” that I wish I could have gone to as well, but it was at the same time as the Clinical Trials.
·        Basically, there isn’t any updates. There is cool stuff being done, but nothing is close to being available on a consumer level for treatments. You can google the names I listed above and find out their exact research projects.
·        I did have my first outright public crying episode in this session. Dr. Enns showed video footage of a EPI – 743 patient. Baseline test he could only walk with the extreme support of his caregiver. Week 6 he took his first 3 independent steps. Week 13 he walked five steps by himself. It was the same room we were in with Will and did these exact same things. I wasn’t expecting that reaction, but it was incredible to see his family and the reaction in the room was palpable. Everyone wants EPI and I feel guilty telling people we’re on it when their child isn’t. That’s another post for another day.
Lunch: We were asked to sit by geographies. I happened to sit next to one of the researchers. I can’t remember his name, but he is at Southwestern studying/researching the affect Cancer and Mito have on each other.
·        He said he’s never seen /been to a conference where the MDs, researchers and patients/families can interact. We both agreed it’s really cool.
·        He said he’s never seen an organization (UMDF) give as much money away as they do for research. Secretly, I’m always skeptical of groups and how they spend their money, UMDF included. It gave me great peace to know hear from someone else that UMDF is extraordinarily judicious in how they spend dollars. Only 6 cents of every dollar goes towards operating costs (salary etc.). The remainder goes to funding research for treatments and a cure.
·        I had lunch with a mom named Tina and her sister. She approached me at the conference because she reads our blog. It was awesome to meet her and learn more about her mito-affected son. Tina – get on facebook! J
Session 5: How Does Mito Affect GI Motility, Leonel Rodriguez MD
·        This was one of my favorite sessions. One of Will’s biggest problems is constipation.
·        Did you know:
o   That the stomach operates on its own system? The Enteric Nervous System. It sends a signal to the Central Nervous System for the stomach to open. Everything else operates independently of the body. BUT, that system and organ also have the possibility of bad mito.
o   Tissues that are highly dependent on oxygen include smooth muscle – our stomachs.
o   He took us through a flow chart of the gut and what you can do when something isn’t working.
o   He divided the stomach into three parts as it relates to treatment: Foregut (esophagus and stomach), Midgut (small intestine) and Hindgut. The Foregut also grinds everything into a soupy like mixture which goes through the intestines and then makes its exit.
o   The rectum is regulated by the spine
o   Probiotics help keep the bacteria out of the colon and will fight for space, thereby encouraging the colon to empty. It’s not good for the colon to be stretched, as Will’s once was. We’ve managed to get most of this under control with a probiotic!
o   I was told a probiotic called, Bifiado bacterium would also help keep the colon cleansing going. (Thanks Tina!) We are going to try and include it in our routine.
Session 6: Immunology Issues in Mito Kids, Dr. Susan Pacheco (*Disclaimer, she also is Will’s doctor)
·        Again, very interesting conversations here. What’s most alarming is that a description of mitochondria and immune function is ABSENT from ALL major reviews and textbooks on mito medicine published so far. So, we’re playing in a new field for the most part.
·        There was much discussion on vaccines, IVIG and bloodstream infections. I am going to save this topic for a separate post.
Session 7: Financial and Legal Issues.
·        This session was actually for child to adult planning. Like when you turn 18, what happens? I wanted to attend because we want to set Will up with a special needs trust and we also all need living wills. So, I learned some interesting information about how to protect your financial resources while not losing government funded healthcare. It’s sometimes a matter of pennies that could put Will at risk for being “too wealthy” to receive programs such as Medicaid.
·        I have a lot of to-dos from this session including: living wills, burial plots, special needs trust, life insurance outside of my employer, letter of intent, setting up a special needs trust advisory in case something happens to both of us and so on…
Dinner / Reception: Keynote speaker William Gahl, National Institutes of Health, Undiagnosed programs.
·        I didn’t take notes on this session because I was burned to a crisp from the previous sections. I wish I had recorded it though. He was an incredible speaker.
·        The basic conversation dealt with rare and undiagnosed diseases such as mito and how the NIH researches, funds and discovers answers. Who knew?
So that was Friday. I sat with a few new Mito friends including two people from Georgia. The woman has a son who at age 22 had adult onset of Leigh’s. He’s now 25 and you would never know he is sick. That shocked me. Then to my left was a man who has a 21 month old son who has clinical symptoms of Leigh’s (not confirmed through testing) and his son was in the hospital that week and has many problems. Just goes to show how diverse one disease can present itself and we all, in theory, have the same problem.

I hope that our blog can be some kind of a bridge between the old continent and the USA , also bridge between  knowledge and ignorance, so that the parents with sick children can have more information about mitochondrial disease, so that they can do what's best for them, even be able to advice their doctors about certain approaches when your child has a mitochondrial disease, the nature has its own way but we can influence changing things with our actions, changing things for better

Sunday, June 17, 2012

i will like to quote Mrs.Charles A. Mohan, Jr.  CEO and Executive Director of the United Mitochondrial Disease Foundation, i took this out of his blog , my thoughts are also with his, so it is logical for you to read also, especially number 3.
His toughts are very profound and with his action he is directly contributing in founding a cure for mitochondrial disease, so here it is:

Exxon is now advertising that their gas works on our engines molecular level.  Exxon and Mobil have engineered gasoline on the molecular level to help clean up intake valves, so it can perform its best.  So.. if Exxon Mobil can get gas to enhance work at the molecular level, could we get them to help us enhance our energy production at the mitochondrial level? 
Let’s see if we can develop a logicl path to follow… STP (Specially Treated Petroleum) treatment for the gas increasing efficiency and mileage, added to this newly engineered gasoline that works on the molecular level – if only we could re-formulate STP to be added to ATP (Adenosine Tri-Phosphate) increasing mitochondrial efficiency….
Maybe, just maybe if we had Exxon Mobil’s budget we could… Just a thought!

  • Complex Complex 5 is the worlds tiniest motor that has a rotor that spins 10,000 revolutions/min and produces 3 ATP molecules every revolution. (And you thought what your heard in a sea shell was the ocean).
  • There are 633,000,000,000,000,000,000,000 (633 Sixtillion) molecules of ATP (633. x 1021 in a teaspoon of sugar which will keep an adult alive, at rest, for 20 minutes.
  • Divide this by 20 to get 31.6 Sixtillion (1021  ) ATP to keep the body alive at rest for one minute.
  • Divide this by 60 to get 530 Quintillin (1018 )ATP to keep the body alive at rest for one second.
  • Divide this by 10 trillion cells in the body to get 53 Million (10) molecules of ATP necessary to keep each cell alive for one second.

Worlds Tiniest Motor
Worlds Tiniest Motor
All this output from the tiniest motor in the world; the rotor in Complex V. And you wonder why a body with mitochondrial dysfunction crashes! Anybody feeling a bit tired?
As if you need any more proof of the importance of ATP – Cyanide can kill in 30 seconds by stopping ATP production, thus the importance of ATP (the body’s energy currency) in the body.

Lance Armstrong, 7 time winner of the Tour De France, in his book, “It’s Not About the Bike” says, “Pain is temporary. It may last a minute, or an hour, or a day, or a year, but eventually it will subside and something else will take its place. If I quit, however, it lasts forever. In my most painful moments on the bike, I am at my most curious, and I wonder each and every time how I will respond. Will I discover my innermost weakness, or will I seek out my innermost strength?
Norma and her family have chosen to seek out their inner most strength. Everyone attending this BBQ is helping turn a tragedy into a tribute and a tribute into a triumph!
We never know what direction our lives will ultimately take. John Lennon said, “Life is what happens when were busy making other plans.”
My wife, Adrienne, and I are normal people. We met when we were both teaching at a local high school. I quit teaching and went into the restaurant business when one day, in the middle of my 80hr workweek expanding my business, Adrienne called and said, “you better come home, Gina is very sick.” Sometimes a lightbulb goes off and somtimes you need hit in the head with a 2×4! The call was the 2×4.
Gina made the honor role in 7th grade, was too sick to finish 8th grade and died before having a chance to enter 9th grade. But man oh man those short 15 years have had a greater impact than many who live to a ripe old age. You know those folks – the ones that coast through life not wanting to get “involved.” The ones that don’t register to vote because it could get them called for jury duty. The ones that could care less about what happens “over there,” until, of course, when “over there” creeps into ”here” and “here” gets “near” their backyard. They’re the ones who tip toe through the years and in the end leave little if any print on humanity or a sign that they ever existed.
So, how do we respond to these unexpected roadblocks that life sends us when we’re busy planning other things? Do they cause us to stop dead in our tracks, or do they encourage and motivate us to continue forward – and in what direction do they cause us to go? Do the roadblocks cause us to discover our innermost weakness, or do they help us seek out our innermost strength?
I first met Heidi in 1997 and from that point probably talked with her 2 to 3 times a week. Each time Heidi would call she would always ask, “How are you doing?” At that moment I would be thinking, “Girl if you only knew.” “I have a pile of work on my desk that I am already a week behind and it will take me another week to get completed which will leave me two weeks behind, I had to fire another manager last week, my back is killing me and Adrienne wants the bedroom painted…”
I would catch myself because in that moment I realized who was calling me. It was Heidi. Heidi, who was diagnosed with MELAS, a terrible mitochondrial disease. Heidi, who suffered from terrible migraines, poor vision, ataxia, poor speech and muscle coordination and needed a walker to get around. And Heidi knew she was not going to get better and understood she would get worse; asking me how I was doing!
In that moment, because of Heidi, I was doing great! I didn’t have a problem in the world. It’s the Heidi’s and the Gina’s that are responsible for getting us up an hour earlier when we know we could sleep and hour longer, helping us keep our problems, aches and pains, in perspective. Heidi and Gina encourages me to go fishing with my son every Sunday and when he reaches out to shake my hand they convince me to grab his hand, pull him in and give him a hug and kiss. Not an easy thing to do with a 28 year old Rugby player! They teach thousands how to be part of the cure and not a victim of the disease. They teach us that it is our ATTITUDE toward a disease or problem that is stronger than the facts of the disease or problem.
Even though mitochondrial disease took their bodies it did not take their attitude, and their attitude would not let it take their spirit and who they were; they were stronger and bigger than the disease and because of that they still “are.”
Writer, Ben Holden, tells the following story about a weightlifter -
When asked the secret of his winning ways, a champion weight lifter replied, “I try not to think of the weight, just the lift. Once you start thinking about the weight, you won’t get it.”
What an insight into life’s problems, its perplexities, and its burdens! We can worry about the problem, or we can focus on possible solutions. We can dwell on our difficulties, or we can zero in on ways to overcome them. We can see only the lack in our lives, or we can open our eyes to the abundance and to the source of our supply.
The successful weight lifter realizes that there is something more powerful than the dead weights; there is his lifting power readily available within him. He knows that there is something far more important than the facts; there is his attitude toward the facts.
Whatever problem confronts you, whatever burden threatens to overpower you, whatever temptation seems to have domination over you, whatever crises presently engulfs you, remember this: Get your mind off the weight, and turn your attention to the lift!
How do we respond to these unexpected roadblocks that life sends us while we’re busy planning other things? Do they cause us to stop dead in our tracks, or do they encourage and motivate us to continue forward – and in what direction do they cause us to go?
Well Heidi, Gina and many other children, teenagers and adults are turning into tremendous weightlifters!
The proof is in the thousands of people attending 100’s of BBQ’s. And the fact that the reason this is Norma’s last BBQ is because she and her family has decided to turn their attention to leading a UMDF Energy For Life Walk (EFL) in San Francisco. By joining many others across the United States, Norma, along with her family and friends, will continue to promote Heidi’s positive attitude by looking forward and not backwards. They are part of the cure.
Because of our UMDF supporters, Heidi, Gina, other children, teenagers and adults battling daily against mitochondrial disease continues to have a positive impact on tens of thousands from all over the world. So think of them next time the alarm goes off and you want to sneak another hour of sleep or when you find yourself complaining about the amount of work you have to do. Think of them when you begin to complain about the aches and pains you have or when the kids are consuming your time with their needs and wants and driving you crazy. Think of those who will never have a family of their own and the great opportunity to complain about them, and the next time your son or daughter, mother or father reach for your hand to shake it, grab it, pull them in and give them a hug and a kiss. If they ask what’s up, tell them Heidi or Gina made you do it!
And, of course, think of them the next time your wife asks you to paint the bedroom.
Well, these trips continue to help me make necessary adjustments to my bike that I know will help me peddle up the next hill. I wonder if my travels near “The City of Ten Thousand Buddhas” had something to do with…hmmm, I wonder if being that close could I have absorb enough Zen to “be more of the bike.” Can the Zen force be that strong?
Keep it up on two wheels and remember; you’ll only fall over if you stop peddling.

Friday, June 15, 2012


Today is Tanja's Birthday, and we want to continue celebrating this rare occasions like our birthdays, that mean a lot to us.
Tanja had couple of wishes, i think you know which they were, but also she told to Nina and Darin that she want a lot of smiles from them for her Birthday:-)and Nina and Darin were real sweethearts all day, i just could not separate from them and stop kissing them. Mama say that papa is boring, and Nina laughs:-).
She has beautiful mind and soul, you just don't believe that so little child has so big understanding for things, things that grown people usually don't have enough understanding for.

                                                      Tanja's chocolate Birthday cake  

                                            Nina is real princess!!!!

                                                    Party hat!!!!!

We really enjoy today, we hope it stay that way.
I was also at the insurance company, i filled some forms like how i would like to be insured after, because they informed me before that i am no longer employed and i must change my type of insurance, the insurance agent asked me for our monthly income, i said no monthly income, and he was very surprised and i felt like he never saw until than somebody without monthly income, and for us it is not so strange, so, there was no special place in this form for case like ours, and we had to fill a side.
Than i asked what should we expect, and he said that we will get written answer.
Also i spoke with one lady from German red cross, i explained our situation and she said that it is complicated, i said" yeah like everything else for us" so i have meeting next week with her and i hope that we can find some solution.
For some it may seem easy all the things that we are doing when i write for our situations and meeting with strange people and going to some institutions to look for an answer, but in fact it is really hard, being a stranger in strange country its not easy at all. I think than only somebody that experienced something like that know this feeling, actually until couple of months i was having big problems in communications with certain areas.
Being a doctor in Germany gives you more possibility to understand and speak, for example when you ask your patients about their disease or you explain something to them, you use Latin terms that are universal and it become routine for you, but when you go to a different areas of society like community centers, power and  phone companies, insurance companies, even if you want to buy flowers which i did today for my wife(it was our deal, Nina's and mine, we wanted to surprise Mama:-) it is very hard to manage everything.
But the only thing that's pushing me forward are my children!
I think that my instinct has made me insensitive to fear from things and other peoples'reactions or some other physical things that other people are encountering in every day's life, i just know that we must think logical and be in control of our actions, for us it is everyday dealing with live.

                                                 Getting ready for the cake

I also went to leave my papers in doctor's chamber that must be processed after so i can hope to the get the German licence to work as a physician, it was 12 o'clock, i could not find it, so i was little late for their working hours but not over, and this lady took my papers from the door and said, i can not talk with you i have too much stress today!!!! I smiled because i know that for her stress means going home because it is Friday and they work Fridays only till 12 o'clock and also i thought what would be like if some patient come to me before i have to go home, with pain for example or other medical condition and i said to him, sorry come another day, i have too much stress today!!!
When patients come to you they don't care about you because they know that it is your duty to help them, and that means nothing when some doctor, like me for example asks for help or understanding from some other society professionals, it is very ironic how things are working but i chose my profession and i always stand before my choices.

                                                          Tasting the cake!!!!!

I also would like to thank all the people for their donations, we are ery vgrateful, those are people with developed sense of compassion and it is a rare thing today.
I will like to mention Marianne with Gabriel, also with Leigh disease,or David with Sara suffering from Alpers and others who even that are in similar situation like ours, know the need of help.
This weekend is Mitochondrial Medicine 2012 meeting in Capitol hill Washington D.C,
we really expect exiting news!!!You can check for more info.

Tuesday, June 12, 2012

Dear friends, We address you for your help and support

Dear friends,

We address you for your help and support, our daughter Nina(4 years) was diagnosed half year ago with rare metabolic mitochondrial disease(Leigh sy.  Complex IV deficiency), and two months ago, Darin(1year) our son, was confirmed with the same genetic mutation.
Nina is born on 09.05.2008 and she developed normally until she was 1 year old, she started with kindergarden and than came the first infection with high fever and the first neurological symptoms(tremor on her hands and legs) which regressed after some time but never disappeared completely. Next infection that came with vomiting and dehydratation and the next with coughing made a lot of damage to her.Her little body could not stand alone because of constant tremor and trembling, she could not seat or hold her head alone, she could only lay in bed at that time. After this, recovering was very difficult but still, Nina handled her body instability, and she was smiling all the time.My husband found a job in Germany, and in that way we wanted to have possibility to do more for our children from health and financial point of view. Unfortunately, after two days trip, our arrival in Germany turned into hell.She started vomiting,she was very weak, her breathing became irregular, so we took her to the hospital the next day where we stayed 50 days in intensive care unit. Here we got this terrible diagnosis and after it was confirmed with genetic testing.
Nina was intubated and artificially ventilated all the time, 3 times they tried to extubate her but without success so we decided to make tracheostomy. During this hospital stay we had our travel insurance who refused to pay anything, and for this stay we have 50 000 euros hospital bill. After 50 days we were home only 3 weeks and than again vomiting and fever caused by withdrawal syndrome from Methadon( which she is still receiving due to addiction from intravenous opoids in hospital).This time we stayed one month in hospital and we had to make PEG-J tube surgery, so we can establish normal nutrition with special formulated milk formula.As a result of this hospital stays and surgical procedures, she can not move her hands and legs any more,she can not eat and drink,she can not seat and talk, only thing that she can do is to hear us and look us, fortunately, she understand us everything. As you can read, if some child has runnoing nose or sneasing, for us that that can mean life, this is a progressive neurodegenerative disease, which in basic is metabolic, the cell can not produce enough energy for everyday needs, especially during infections, when the body need more energy, so the cell is building waste substances that she can not get rid off easily, and the cell dies.You can read on our blog( how we are handling our disease and also we want to raise awareness for this rare, terrible, fatal disease! Unfortunately, no cure yet!
There is one experimental drug caled EPI-743, which is only in clinical trial, only 10 children in Italy and about 20 in the USA are receiving this medication.We are in contact with Dr.Guy Miller from Edison Pharmaceutical, who is responsible for clinical trials, and we got approval for EPI-743 to get in in Germany.
Now we must make conditions, technical and profesional,to receive EPI here, for us every traveling is very dangerous, which is why received approval at first place.We are exausted in any way, also my husband is changing his job in this moment and to start new one, he must wait sertain procedures which can last couple of months, at this point we have no insurance!
We address you,to help us in our struggles because we are fighting for our lives Nina and Darin and that is never ending battle!
If you like to contact us please do so and
Thank you for your time reading our story, every help is welcome

Acount number:                  210-5016563117.15
Name and surname:          Tanja Milenkovska Dimkovski

                                          IBAN: МК07210501656311715
                                          SWIFT: TUTNMK22

Adress:                              NLB Tutunska Banka AD Skopje
                                          Vodnjanska 1

For Deutschland:
Deutsche Bank
BLZ 45070024
Account nummer 6345615
Blashko Dimkovski

   Ви се обраќаме за Ваша подршка и помош, имено на нашата ќеркичка Нина (4години) пред половина година и дијагностицираа ретко метаболно митохондријално заболување (Leigh sy.  Complex IV deficiency), а од пред два месеци дознавме дека и нашето синче Дарин (1година) ја има истата генетска мутација за оваа болест. 
   Нина е родена на 9 мај 2008 година и се развиваше нормално до 1 година, кога почна да оди во градинка и кога дојде и првата  инфекција  со многу висока температура и првите невролoшки симптоми на треперење на рачињата и нозете, што се повлече после некое време, но не исчезна. Следната инфекција со повраќање и дехидратација и набрзо после тоа и нова инфекција со кашлица неа и направија голема штета. Нејзиното мало тело неможеше да се држи исправено затоа што постојано се тресеше, неможеше ни да седи ниту пак да ја држи главата исправено, единствено што можеше да прави е да лежи. После оваа ситуација опоравувањето одеше многу, многу потешко но сепак Нина се справуваше со телесните проблеми и секојпат беше насмеана. Сопругот најде работа во Германија, на тој начин сакавме да имаме можност да направиме нешто повеке за Нина, од здравствен аспект, но и од финансиски. За жал, пристигањето во Германија после пат кој таеше 2 дена, се претвори во пекол.  Нина почна да поврака, омалакса, дишењето и стана понерегуларно и веднаш следниот ден отидовме во болница и останавме 50 дена на интензивна нега. Тука, ја добивме првично оваа страшна дијагноза, за после неколку месеци  се потврди и со генетското испитување. Нина тука беше интубирана и ставена на вештачка вентилација од самиот почеток  и после 3 неуспешни екстубации и беше направена трахеостома. За време на престојот имавме патничко осигурување кое се огради од трошоците. За овој престој во болница имаме сметка од 50 000 евра. После тие 50 дена бевме дома дури три недели и повторно поради повракање отидовме во болница (овој пат повраќањето беше како резултат на апстиненцијален синдром од Метадонот што Нина сеуште го прима како замена за долготрајната употреба на опоиди  што ги примаше тие 50 дена на интезивна нега). Овој пат останавме еден месец и направивме операција за ПЕГ сонда, за исхрана со специјално формулирано млеко. Како резултат на целата оваа ситуација Нина не може да се движи воопшто, неможе да седи сама, неможе да ги движи рачињата или нозете, неможе да ја движи и да ја држи главата, неможе да зборува и да јаде, единствено што може е да не слуша и да не гледа и за среќа знаеме дека се разбира.  Како што можете да прочитате ако за некое детенце една инфекција значи носе што тече или кивање и кашлање, за нас мозе да значи живот, зошто ова е прогредирачка невродегенеративна  болест, чија основа е метаболна, клетката  неможе да создаде доволно енергија за секојдневните потреби( особено е тоа изразено за време на инфекции кога на организмот му треба многу повеќе енергија) , во клетката се натрупуваат  отпадни материи кои таа неможе да ги исфрли и со тек на време клетката угинува и така клетка по клетка...за оваа болест и за нас како се справуваме со оваа болест има повеќе на  блогот кој почнавме да го пишуваме( на кој можат да се прочитаат и повеќе информации се со цел да укажеме на ова навистина ретко, ужасно и фатално заболување. За жал сеуште без лек!
   Постои еден експериментален препарат , ЕПИ-743,  кој што сеуште не е во продажба, но е во фаза на испитување и го примаат само 10 деца во Италија  и окулу 20тина во Америка. Ние сме во контакт со г. др. Гај Милер директор на Едисон Фармацеутикал одговорен за тие студии  и добивме дозвола од него  да го примаме ЕПИ-743. Но сега треба да направиме услови, технички и кадровски за да го примаме тука, затоа што  за нас секое патување е  многу голем ризик. Исцрпени сме во секој поглед,  со оглед на тоа дека во моментов  сопругот е на преод  од едно на друго работно место и без осигурување, Ви се обраќаме Вам Почитувани, кој може, како може и колку може да ни помогне во битките, зошто ова е борба за нашите деца, за Нина и Дарин, а тоа е борба без крај.
Ви благодарам за одвоеното време да прочитате за нашата приказна, секоја добронамерна помош е добредојдена, а доколку сакате, можете да не контактирате на ( Тања Миленковска Димковски) и ( Блашко Димковски +491627584728)

Broj na smetka : 210-5016563117.15
Ime I prezime: Tanja Milenkovska Dimkovski
Za donacii od stranstvo
IBAN: МК07210501656311715
NLB Tutunska Banka AD Skopje
Vodnjanska 1

Sunday, June 10, 2012

We did not wrote our blog this week, we had a lot to do in our new apartment, also to register here in our city, but the most important thing is taking care of our children, i know that being a parent is full time job, but for us that has bigger dimension.Just for an example, we sleep with Nina from both of her sides and we both(Me and Tanja) have suctioning devices above our heads.She usually go to sleep about 11 P.M and we are going to bed about 1A.M.
Than she usually starts wakening up and has a lot of secretion and we have to suction for about one hour.
I see my wife sleeping with the suctioning catheter in her hands.
It is everyday, our reality, not something that is happening occasionally, our care for our children is literally 24/7, but,  our children give us the strength, they are the reason why i am alive, i have terrible thoughts occasionally like just wait to be gone from this world and that everything will be all right, it is just too much sorrow and pain in my soul, and sometimes being gone seems like only solution.
But, when taking everything that happened to us in this period looks like that we must continue and struggle and keep on fighting with life, with everyday insecurity, with everyday problems and situations, it is like neverending roller coaster.

                                                    Mama is making frissuere:-)


Traditional "Postupalcinja"

You try to do all the obligations that you supposed to do, so that you will have more time after you finished, but everyday there is something else that is on your way.
Sometimes it feels very strange when there is nothing to do, like when it's holiday or weekend, and you just have to wait till Monday, to do certain thing, and i feel this restlessness like it is not normal to have time for your own, for example what other people would do, like going to meet frends, washing your car, hobbies or do something that you really want.
It is really hard to expect that other people will understand you, it is just not the nature of things.
Usually people are dodging other people's problems and you just see and feel that. It hurts somethimes when you can't share your feelings and pain with others, some just don't want to hear about this or some just don't have the power and knowledge to discusse it with you, so you feel like it's just waste of time.
For example, you talk with somebody that is close to you, friend or relative and he asks you:
how are you today, how are the kids? and than you are saying something that troubles you:
Nina is very nervous this couple of days, i dont know whether it's from the Methadone addiction because we lowered the dosage one drop 3 days ago, or she is feeling something else like some tummie gases or muscle pain(she can't talk so you dont know what she feels) and than your friend(or relative) answers to that: Well, we were yesterday to a movie or something like that!!!!!!????????!!!!!!!!
Than you just see that you can't share your problems with people because they dont want to understand what you are going trough, so, you just dont have enough power to speak with this people,
and you're getting more and more distant, than, somebody have even courage to say:
Hey, they are unfriendly, they don't want to hang up with us, they don't want to stay in contact, so we don't care about them.
All that i am decribing refers to our previous life before we came in Germany, or some occasional chat with people from our home country Macedonia, here we have only friends on facebook and long distance friends that share similar faiths like ours.
But it is really important to say that there are real friends also, they understand what your going trough because some of them are going trough the same things also. And this helps for real!!!!!

                                                         Playing in our garden

                                        Watching Disneys Chimpanzee

                     Home made terasse so that Darin can play on his own

                                                                    The Beauty


                                                              and the Beasts:-)

Today i woke up and turned the computer on and i saw this message from Jennifer and Joe from Virginia.
Their son died 2009 from Leigh disease and their second son has the same mutation and has tracheostoma since 2009!!!!!!!!!
There are not too much words to describe their pain and suffering, they are part of the (United mitochondrial disease foundation), they shared with us that next week there will be symposium in Washington D.C  and that Dr.Enns will have a presentation and it will be available on this site for viewing.
They are also attending, i am sure that they also devoted their lives to finding a cure for mito disease like thousands of other families who just don't give up for their children.
These families are the real heroes, these are the fighters that are fighting for brighter future, trying to correct the imperfectness of this world, always looking up for the future.

Our disease is one big warning to the world, it is a disease known only 20 years but the biggest progress is made in the last couple of years, in the field of diagnosing, understanding the disease better, prevention of stressful situation as one of the biggest weapons to fight this disease, way of life in preserving energy for every day.
Energy need is one of the biggest problem that the world encounters every day, our children also, that's why i think that this disease is one way of showing the world that we must look out more to what we have, to ourselves, to combine our forces for making better things in this world, to make everything in our power to preserve our future and existence.