Tuesday, January 20, 2015

Cherishing everyday

last year has been difficult, we are really trying to get back to our previous condition, which is almost a miracle when it comes to mitochondrial disease. I saw a video of Darin and Nina near Christmas last year and the tears just burst from my eyes. Darin's voice, walking, standing, play, his abilities to do things whit his body, just wonderful!
It all changed so I'll summarize all the changes in order that I remember:

January light infection, couple of days running nose, no fever.
February his energy levels are getting lower, the eyes are showing strabismus, we see ophthalmologist, no structural changes regarding the eyes, possibly slight astigmatism, glasses would not help, back to his metabolic doctor. He orders on my request L-Carnitine 2 x 300mg in liquid form.
March his energy is getting better, we rest more, otherwise we used to drive his Lighting Mc Queen bicycle and used the roller for walking every day and were getting more mileage.
April his eyes are showing sporadic strabismus, new infection, this time last for a week, no complications, but this time he starts showing strange shooting movements with his head backsides, dyskinesia with his upper body starts getting obvious, the walking still present.
May we fear it is the Akineton( 2 x 1mg, receives since 1,5 year initially for the tremor but improved very much his walking) that's causing this movement disorder so we are changing very slowly on Amantadin. The weaning was very difficult and we reached sufficient effect with 2 x 50 mg Amantadin but suddenly he stops talking!!!
June we are in panic so we are reducing the Amantadin and searching second doctor specialised in movement disorders.
July no Amantadine, we got Artane but it was horrible, he was tired, noting got better so again doctors office.
His speech relates to couple of clear words when the energy levels are higher, especially mornings and occasional words during the day. Standing is possible only for a dozen minutes and the walking is not there anymore. He got Akineton again and Tiaprid as a dopamine antagonist which basically is not such a good combination with Akineton but we know he needs Akineton again and we know we have to give another medicine.
August improvement from the Akineton, he started getting his skills bit by bit. Holiday in Holland and after 4 days he gets stomach virus and we have to go back in Germany after 4 days of holiday!!!
3 days exhausted, on a verge of bringing him to the hospital, he pules thru without admission.
October back where we were before the improvement and even worse! 2 weeks after the stomach bug he gets fever for 7 days without any other symptoms! His mouth is sore and full with ulcers so he can not eat without any pain, he is very skinny, it took 3 weeks to get back to ''normal''.
His choreatic movement are now terrible, he doesn't get any rest, his hands, legs and body move all the time, he can not hold anything with his right hand.
November we stayed with Akineton and Tiaprid and the Tiaprid starts working first after 4 weeks! He can eat and trink better and fall asleep easier. Still not there where we want but seems like his motor functions are getting better, he got a therapy chair and we ordered therapy tricycle and walk trainer.
December  with the therapy chair and tricycle we are experiencing a big difference, also the Tiaprid and Akineton continue to work. HIS VOICE AND TALKING ARE BACK! Not as it was but he has long conversations with us about Marvel Heroes before he gets in bed :-)
Related, the following pictures are from December


Nina's condition is constant which is good, she got higher EPI-743 dose, she enjoys school once a week and laughs always when her brother does something funny :-)

Christmas and New Year were really full with joy and happiness :-)

Thank you Lord Jesus Christ for everything!!!!!!