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
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
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
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 .