Monday, March 25, 2013


Hello,

it has been a while since our previous post, there is just not enough time for everything and we like to spent every second together and stick to important tings, like hugging:-)




Our situation had ups and downs as always, until 1 week ago Nina was trowing up, desaturating and was very tired, that is what mito does!


It all started as vomiting one evening and it turned up to be 4 weeks recovering time.
After the initial vomiting, providing sufficient nutrition and hydration is the most important what we should do, and it isn't easy. We switched the gastro into jejunal tube, and she tolerated her milk well, thank God! Than the problem is giving medicines on an empty stomach, and if we give them in the J-tube she gets urge right a way and it also doesn't help. Giving the medicines in the j-tube should be very slow, maybe couple of milliliters for 15 minutes, and it isn't always enough, she can be provoked to trow up anyway. Second issue is that every time she vomits she produce more sputum and secretion  and if we do not suction in a right moment she vomits instantly. Good thing is that what we gave in the jejunum doesn't go back outside and sometimes the drive can be so strong that she vomits everything. It is very hard struggle but we are trying to do things right. O2 saturation was also a problem because after so many vomiting cycles she was exhausted and  we do need energy for breathing, don't we? So we put her on oxygen everyday during night and day sleep. We also saw that her breathing needs more support and we decided to set the medical respirator. Because of the cuffles tracheostomy tube, the ventilation was insufficient and we tried to set one with cuff. Why do I say tried? because it didn't work! The opening on her throat has adapted only for the cuffles 5.0 Shiley tube so the new tube just couldn't enter! Right away we set the old back and we waited for Nina to calm down a bit and than we set smaller tube 4.0 with cuff. That went OK  but than we realized  that our suction catheters are number 10 and they couldn't enter, we needed 8 and we didn't have them at home. Than we set new cuffles tube 5.0 and all that we did was for nothing. We felt very helpless and sad, we put Nina on so much pain trying to do better. So left the ventilator that night and we were supposed to order new size catheter  and hopefully get the smaller tube again in the next days. But our sweetheart and lioness  Nina started feeling better so we didn't have to do all that again. We started giving new medications according to the new situation and it all contributed the vomiting problems. After some time we saw that she trows up equally after gastro or jejunal application so we started giving her water in her stomach and milk in the j-tube with two pumps at the same time. We started giving milk occasionally and she tolerated well so now we are back to gastro nutrition all the time and we are very happy! The desaturation problems are no longer issue, after the vomiting stopped, saturation came back to levels above 90 during day and night. We started with Omeprazol to support the ventricul and Ondansetron helped also against vomiting but not as much as it supposed. Also, her sleeping was very disturbed, we tried with Chloralhydrate and Tavor(Lorazepam) but it seems that they only worsened the insomnia. Just to mention that her heart rate was also elevated in this period and after the problems were gone it comes again in for her "normal" levels(95-105 nights and 120-140 days).

                                    First signs of sun and we are right away on the balcony

Hello Kitty is everywhere, even on the terrasse and Dandy loves her too

Mama and her sweethearts 

We are suctioning less in this days, we know that as much as we suction more, more secretion is being produced, the only thing is that your heart doesn't hold on when you hear that she has secretion and it is difficult for her to breathe and you do nothing about it. However, and thank God we are suctioning infrequent and it is working.


                                    The traditional "macedonian christmas eve" dinner

                             With Tavce-Gravce, Fish, Baklava and Bread with coin for luck in it

It doesn't matter that the glasses are upside down, i'm ready for new picture


                                  Can you see me, i'm right here in the middle of the picture!!!!!




                                                                    Go Nina, go!






There will be a conference call with Edison regarding EPI-743 so i am taking over the information about the meeting:


Conference Call with Edison for those who are interested in EPI-743 has been scheduled. 
Friday, April 5
Noon eastern time/9 am Pacific

More details:
An update from Edison Pharma on the Development of the EPI-743
Join us for a very important discussion with leaders from Edison Pharma about the EPI-743 
clinical trial for children with Leigh Syndrome. 
Topics for this call include:

  1. Status on EPI-743 clinical development
  2. Status on EPI-743 US clinical trials
  3. Status on EPI-743 European clinical trials
Q&A opportunity included in this important discussion. Parents, patients and families - please join us!
To join the online event-------------------------------------------------------
Go to : https://umdf.webex.com/umdf/onstage/g.php?d=667321101&t=a
Fill in your name/email
Click JOIN NOW


To hear the audio portion, do the following:
Call-in toll number (US/Canada):1-650-479-3207
Global call-in numbers:https://umdf.webex.com/umdf/globalcallin.php?serviceType=EC&ED=105951307&tollFree=0
Access code: 667 321 101
You will be given an “Attendee ID” to use and you will be placed into conference.

-------------------------------------------------------
To join the teleconference only
-------------------------------------------------------

To hear the audio portion, do the following:
Call-in toll number (US/Canada):
1-650-479-3207
Global call-in numbers:https://umdf.webex.com/umdf/globalcallin.php?serviceType=EC&ED=105951307&tollFree=0
Access code: 667 321 101
You will be given an “Attendee ID” to use and you will be placed into conference.

Please send questions in advance to info@mitoaction.org or connect@umdf.org

                                                 Nina's Kitty hat is very interesting so why not wear it

                                                          Dandy is always daddy's top

                                                     Waiting for the bus at the bus station

                                                            Just to see the bus of course

                                                             Miss fashion:-)

                                                               Look how tall(and handsome) i am



                                        Nina in her stander right after setting all the belts

                                        When ever there is a smile it's wonderful

 We found out that Edison is having problems including 30 children in the USA with confirmed genetic Leigh disease for the new phase 2B/double randomized trial so that can jeopardize the whole EPI Project, we hope that they can include European children in the Study so that we can all have more hope. Please inform Edison if your child has genetic confirmed Leigh disease wherever you are so that they will have more global informations.

                                                         Daddy is always funny 



 In the moment here in Germany we know three children with confirmed genetic diagnosis, including our son Darin, for which we are waiting an answer from Edison about enrolling him in the study too.
His condition is hopefully stable, he developed tremor and his hand supported walking stopped in November last year, than we started  giving him Biperiden( Akineton) 2 x 1 mg and additionally Creatin 1000 mg, vit. B1 2 x 100mg, vit. B6 100mg 2 x 1, and Idebenone as usual 2 x 150mg daily.
I am thinking about adding Resveratrol, if somebody has some experience with that please inform us.





                                                      That look melt us







                               It was so much windy but we took extra blankets

                                                     K-D (Cologne-Duesseldorf)

                         
                                                     
                                                          Daddy and his Princess


                                                                Gangnam style-Darin

His walking improved(also thank God), but he must be kept in a active state all the time, he and all mito kids need working out, practicing and physical activity to support their energy production.
It is hard with two children with special needs to accomplish all that, so he is climbing the stairs sometimes in the house or just walking in our apartment when it is too cold out side for a walk. Nina is working out every morning with mom to prevent stiffness in the legs and than she stands in her stander for at least one hour, it provides more muscle strength. All dough all the belts are boring and she has pain most of the time, she is our Princess with a lion's heart!
                                                         Gangnam style-Nina


                                                                First time in  Legoland              


Until next time!





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