Saturday, June 14, 2014

The challenges of everyday

Hello,
This post was written 2 months ago but we didn't get it published, so I am publishing this and will make it up for the missing months!

As usual posting takes time and time is something that we cherish, this is why I´ll try to stick to the most important updates.
Nina is a sweetheart, she had vomiting episode last week and as usual, we had to give the milk formula and all the medicines into the J-port very slowly, that by itself caused additional vomiting. She was very tired and she did not gave us any smiles at all for 2 days. The sleeping was also interrupted, she had 5 minutes naps through the whole day and night. We had to give her chloralhydrat in order to sleep and that usually do the trick. After 4-6 hours sleep with this medicine she is afterwards not so sleepy and sedated like with lorazepam or other benzos for example but we use it very carefully and only when she needs it. However, the recovery was quick and she started giving us the most beautiful smiles in the whole world.
Darin gives us concerns, we actually didn't change anything regarding our lifestyle but still we can see that his body energy demands are getting bigger. We noticed that he is getting tired earlier as usual before the afternoon nap and evenings too. Since couple of days he started yawning a lot and his eyes are showing strabismus especially evenings before he gets to sleep. I did some research and found out that the eye muscles are very resistant to stress and free radical damage because they have the possibility to renew themselves at faster rate in compare to other skeletal muscles. I also find out that they are innervated from a special nerve core in the brain stem. That is my fear, the brainstem is the most sensitive part regarding mitochondrial disease and the most important too. His doing otherwise fine so that is why I can not explain myself if this is some neurological symptom or it is the muscle weakness. We started liquid Ubiquinol while ago and we were pleased to see his energy levels stable but now even after increasing the dose I am not sure anymore. I have to consider other supplements.
We are waiting the results of the ongoing phase 2B/3 EPI study, maybe Edison will allow expanded access for other patients and he can be enrolled too. I also hope that they can allow dosage increase for Nina because the second phase of the study allows the children to receive up to 200 mg 3 times a day and we are allow to give the start dose 100 mg 3 times.
Our new neighbourhood is very nice, we like our new apartments and we even set curtains for the first time after 2,5 years in Germany!