Sunday, November 11, 2012

it has been a while, there is this thing called parent of mito-kids with 25/8 engagement, the time is precious to us, we really try to use it's max, trying to seize every moment with our precious children. We like the mornings especially, Nina, my wife Tanja and I are up about 8 o'clock  and Darin sleeps in the other room with his grandma until 9, we try not to wake him, but actually we just can wait for him to wake up so that we can hug all together in the bedroom. At evenings, Nina likes to be quiet around her and she goes to sleep about 9-10, but her brother doesn't even think about sleeping before midnight.
So, one stays with Nina in the bedroom and one plays with Darin in the living room. Tanja puts Darin then to sleep with Snowhite or the Beauty playing on the dvd player and than brings Darin in the bedroom.Than we kinda sleeping till 4,and Darin is again wake and needs some rocking and my wife takes him to the living room with his grandma. It is really big temptation for all of us to sleep in one room, but we can't imagine not to, because those moment are some of the most beautiful in our lives.Than mornings again we play some Snowhite or some other cartoon in the bedroom again. Until now we are very much thankful to Snowhite and Belle, they are really helping us in our lives.

                                                                  Sister-brother love

                                                      Driving the wooden train in the park

                                                       Posing and playing important

Darin is driving Nina and mama

We are almost finishing the EPI Protocol, we have only one more big day with lots of investigations like sleep study again, blood work, ECG, EEG, ECHO, urine samples, even X-rays on the chest but i will try to convince the doctors not to do that because we already had like 10-15 x-rays in one year, i think that's enough.
Nina is improving slow but constantly, i think stopping the disease progression will allow the body to recover by itself, all dough very slowly, because as you know the nerve tissue doesn't repair itself, it is only possible for the brain the learn new pathways.We are also reducing methadon in this period and it all affects her condition, however she is real sunshine.

Nina has a baby called Ina, and there is Hello Kitty as well!

Our other little cup cake is making us worry, he doesn't getting enough developmental milestones as he is supposed to in the last couple of months, his walking actually regressed and he developed intermittent tremor and nystagmus. That means that he is already showing symptoms of the disease and that we didn't have that luck to be symptom free, not in our case, not in our lifetime.
It is life without future for us, we only live in the present, it is funny how some people think about the future and making plans for it, and we simply choose the present, because we don't really have any other choice, don't we?

                                                       His favorite bike is called Puky



                                                                   More Lego!

                                                                   And more Lego!

                                                     There are some funny lights in the new moll

                                                                           My boy!

So, we spoked with our doctor about enrolling Daring to the EPI study as well, but we did not get approval from USA, we have to wait for press releases in the next period to see how patients out of USA will be able to join the EPI-Protocol, or is it going to be a study like they are conducting it now in the states where the children are getting either placebo or EPI for 6 months, than they have one month pause and than they receive opposite either EPI or placebo for 6 months, and eventually they all get EPI after one year.
For now our doctor thinks that we should wait for EPI in the next months before deciding to give something for Darin's tremor, but we anyway started giving him Gamibetal(gamma hydroxy buteric acid), because it stopped Nina's tremor when it started when she was 1 year old.
We have good experience with that medicine and we now that it can not harm him. The other problem that we have is giving him enough calories that he needs during the day, his appetite decreased accordingly to his developmental regression, something that we never had as a problem with him before, and now it is our main issue every day.

                                                     Bike driving on the river Rhein

There are some friends too

                                                          Playing with the puppy

Some playground fun

                                                      His favorite toy-driving wheels and cars

                                                        I like when they are all over me

                                               We are sun-bathing any time of year

There is also something that we like to try, it is called
 "Preemie growth project"
they'we seen very encouraging results with supplementing premature babyes and children with neuromuscular diseases with plant colloid minerals extracted from mines from plants captured 100 milion years ago, and they are consisted of 72 minerals, which is thought to be helpful in giving the body everything that it needs for
 adequate growth, it is improving the appetite and the muscle strength and tone, we like to try that, parents are describing lots of improvement in their children.

 Lets try something new,like eating an apple

There isn't much more to be said, we are praying for stability and doing what's best for our children, we don't have really much help from anybody, especially not our family, there is one girl Aleksandra from our home country that is really helping us, she is like a family to us, now we are trying to arrange some papers for her so that she can get a viza for Germany and my wife's mother can go than back to Macedonia because she still has to work there and it is hard to make her stay with us even that she see's how much we need help.
There isn't any other family left, my mother died 2005, she was a parent that every child could wish for, if she was alive i would not ask for any other help at all, i hope that we are those parents for our children the way she was for me.
 My other family decided to quit on us even that they knew how sick Nina was and how terrible this disease is, they didn't even ask how Nina and Darin are doing all year, but there were a lot of supportive messages from strangers that are really making a lot of difference.
Just for the record, i know that i would not do the same for anybody, especially not my family if their children were sick, instead i would try to help them in any way i can.
But only a parent with mito-child can really understand what i am talking about and how much actual "physical" help is required, if your child has tracheostoma, that means you have to suction 24/7, that means you have to change the tracheostoma band everyday, that you have to change tracheal canulla every 2-3 weeks all alone, if your child has a PEG GJ tube, that means you have to give milk, you have to give water, you have to give medicines, you have to change the tubes every day, you have to put water in the tube after giving milk so that the tube would not be stuck, not even have to mention diapers or how taking a bath can be a challenge, then you have to change pumps when going for a walk, you have to put all those devices charging regularly, you have to deal with things and suppliers every month because you need a lot of things for your child, for example, we use 900 suction catheters monthly, you have to go to your pediatrician for prescriptions and hospital referrals, you have to work out every day to prevent contractures, even if your child is crying and has excruciating  pain, you are pushing her legs and crying inside your self also, some of you don't know that physical activity and exercise is one of the weapons to fight this horrible disease, you have to do that every day in that way your body produce more energy and you hope that your child's body is getting stronger, but can you make one 1 and a half year old kid to walk against his wish and possibility and push and do things that no other child his age is doing? How can you make Nina be more physically active when all she can do is looking with her beautiful eyes and breath on her own, or exercise(stretching her legs and arms) without causing her pain?

                                                             Our beautiful princess

Hello Kitty is Shiki-Niki

                              Daddy has funny methods for putting the kids to sleep-he goes first!

We are fighting, Nina and Darin are the biggest fighters i have ever seen, they are our heroes, our everything, our universe, and we are fighting by each others sides forever.

All together on the roller-coaster of life

Sunday, September 23, 2012

EPI-743 Week 4

we are 4th week on EPI-743protokol, until now, things are going as they supposed to, all the blood work is also bearable, the doctors are finding the vein from first or the second time, we are receiving 2x100mg now, and we should start with 3x100mg this week.

                                      Enjoying the sun and the flower floor behind

EPI drug works,that is obvious,we are at a point where we weren't 9 months ago,i just feel such a big pain that we didn't had it last October, things would be different if we had something to give for mitochondrial disease at that time, time of 50 days intensive care hospital stress, and again in January for the damn methadone withdrawal syndrome(30 days in hospital plus GJ tube), after which Nina lost all of her motor skills, she was so much hypothonic that there were not any muscle impulses or contractions on her entire body, and we fought everyday to give her enough fluids and food (specially design Nutrini milk formula), while she was vomiting 3-4 times a day. Her look was distant all the time, there were very few sporadic smiles now and then, i was wondering how we can bring back some of the electric impulses that her muscles need to contract, but you should know that this disease not only makes damages to the central neurous sistem, but it affects the periferal nerves also, depend of how the disease has advanced, so we decided to look and manage the things one at the time. After we start Idebenone, thank God the vomiting stoped. After removing such a big problem which is taking lot of energy by it self, we could focus on other things like enjoying  Nina's smiles. Her facial muscles start to work a little bit and we were happy for every movement that she could do, even with her mouth or an eye brow. This is what mitochondrial disease is doing to children, our beautifull baby was perfectly normal until 1 year, than after one kindergarden infection the first simptoms occured, she managed fine after that and now we got to the point when we are happy when she moves some muscles on her face!

                                                     Our beautiful baby girl

                                                 It was some strange fountain

                                                       Mummy enjoys her son

 This week was mitochondrial awareness week and we think that every parent has to be aware of this disease, because even the doctors don't know much about it.

                                  It was Sunday so we had more space on the street

                                                                      My girl

                                           With this bath-bed-chair, taking a bath is really fun

                                       I really like to read, so don't interrupt me

                                           What is it now, i thought i told you

                                                            Traditional "Oro"

Now, back to the point where we are now.

Nina smiles more, that means mostly evenings, after the effect of methadone, that we are still giving mornings, has weakened, just to mention, we are now giving 6 drops mornings, and we used to give three times 8 drops after hospital last December, we got wise and we are lowering one drop every 3 or 4 weeks, she still has withdrawal symptoms but not as close as in January, nobody told us how to get rid of it, i know from my experience with grown patients but it is different in children, so i think this problematic is very important espetialy that the doctors decide to give this medication quite offten by children with mito without pointing the  side effects and how dangerous can the withdrawal in this children be.
Her muscle strength improved considerably after beginning the EPI drug, now she can hold her hands in a fist very tight, also during the night she stretches more often and she put her hands in the air(something that was unimaginable before).
Her look is getting back to some point from last year, her eyes are folowing each other, and she focus better on things.
She is starting to do some of the facial movements that were considered "neurological", but we love them now more than ever.
She reacts to sounds very sensitive, it looks like that her hearing is more sensitive too, she was hearing everything before also but now i think she is more focused on the things around her and that's why she reacts in such way.
Saturation is better, we are using oxygen rarely,and it doesn't have falls as before.
Her heart rate is about 120-140 during the day, when she is not angry and gets below 100(we saw even 82!) every night, before it was about 150 during the day and about 120 during sleep.
Her sleep has improved dough we still have some difficult nights!
Considering the things that I've mentioned before, this is for us real improvement, we hope it stay that way, also we are exited that we should start with higher dose this week!
And yes, did i mention that she is really clever? She knows everything, i mean everything!

                                             The most pure love in the whole world

                    I am little bit busy right now,i'm watching my favorite cartoon, can you call me later?

                                    And here is how it's done,you trow it on the floor just like that:-)

                                                       Funny music instruments

                                                  Should I clean my ears,too?

                                         We are ready for foto session after taking a bath

Maybe you know that the doctors from Bambino Gesu Hospital in Rome, came up with their study results for treating 10 children with Leigh disease with EPI-743, and all experienced reversal of progression of the disease, in other words-IMPROVEMENT.
It is first time in history that something like that was published, we are very proud for all the mito comunity and all the kids that should have something to help them in their fight and EPI is the only thing there is.

I received the abstract today , so i will put it in copy paste manner (because i can't upload otherwise) in a new page EPI-743  at the top of our blog if you like to read it .

Wednesday, September 5, 2012


we finally started with EPI-743!!!!!!!!

                                                     First dose of EPI and everyone is happy:)

It was a long way to start but now we are on the EPI-drug, Nina is real sunshine and she has to go trough a lot, but she is very brave and she give us courage too. It was not easy, we are fighting to get EPI since January, so i want to thank specially to the people that gave us direct hand, first to Dr.Guy Miller and Mrs.Gilmore from Edison, than to Dasa Gain who fought for us too, our physician Dr.Distelmaier for having sence and understanding and will to contact Edison and arranging things for us, and all the other close and distant friends whose prayers are with us.

                                                               Family foto in our backyard

 You know, just for example, there are only 10 children that are receiving this medication in Rome, as a part of a clinical study and there is one girl in Germany that started EPI 2009 and us, in America children are also waiting with the beginning of a new study, other parts of the world are still far away for starting, now Edison is making efforts to push the medication trough all clinical fase, and that is not that simple, so that every child in the world with mitochondrial disease will have some help in the fight against this terrible disease.

                                     One day in year in Duesseldorf is very hot and that is day for pool

                                                Three fun adjustment levels on the zebra-toy
                                                                     Art on the walls

We made sleep study in Cologne at Monday last week, we were really nervous how will all that go, they put dozen of electrodes to Nina's body and the EEG was the most annoying, but our sunshine actually went to sleep from 12 evening till 5 in the morning and it was the time that they are finishing with the examination.
We could not wait to go home, we told the nurses and the doctors that we want to go home right away, they asked us"don't you want to have the results first?I said please fax them to our doctor in Duesseldorf, we want to go home now".
We dont like hospitals at all, so, any unnecessary stay is unnecessary!

                                                Nina and daddy, first time on the swing after one year

                                                                   Nina in her buggy

                                                                  All that fun for 50 cent

We had a little rest at Tuesday and Wednesday we went yo the Uni klinik where we were supposed to start with EPI!
We had some problems at first, they did not had a room ready for us, although we had an appointment, but the good part is that the doctor found a vein on Nina's hand with one prick, so he put bromila inside and we manage all the blood work with one prick(4 times for 24 hours), and it's a big deal for us, it is not so easy to find veins on Nina's hands, she gave so much that she does not want to do it any more.Than we had two EKG's(one before and one  three hours after the first EPI dose)another chest X-ray(i don't know how much she had for one year) and we skipped other examinations with questionaires, and some we did before.The boring part is that we have to do this almost every week in the 13 week protocol.
She tolerate the medicament good, she shows more muscle tone, her sleeping is improved, but we are on the begining, we are getting only 2x50mg a day, and eventually we should to get to 3x100mg, so we hope that higher dose will do more good for Nina, anyway, we are sure that it's working, and it should be administrated to children as soon as possible after diagnosing mitochondrial disease, in that way all the brain damage and free radical damage can be avoided, but we hope also that it will allow Nina's body to recover also, with out the free radical or oxidative stress, you name it, the cells will be able to repair them selves,at least some of the damage.
It is the only thing in the world for our disease made in controlled laboratory condition and designed for mitochondrial disease and tested on other children, especially with Leigh disease so we really love it.

Delicious lollipop

                                                                        You want some

                                                                       Grass all around me

                                                                    I meet some friend there

                                                                 Wanna "fight" with me, a?

                                           Big smile is for mom and dad, but the biggest is for Darin
It is our world, it is called "mito world"and we know that the only people that can really understand us are the people with same faith, faith to fight together with and for their children and to share informations, feelings and mutual hope for finding a cure.

                                                            All that LOVE on one square meter

Today we were again at the clinic for another blood work, the doctor found a vein after the second puncture, and that was it, Nina was very brave as always,she gain one kilo since our last visit and she is now 17,9 kilos,we are so proud of our little big girl!!!!!!!!!!!!

                                                                   Mom and our wealth

Next week we have to stay another 24 hours at the hospital and increase the dose to 2x100 mg.
Our journey continues!!!!!!!!!!!!!!