Another result leads to another test which will only lead to another test and more waiting. Cara’s pyruvate testing came back normal. Basically, all this result means to us is “not here”. What we know is that Cara has a problem with energy production we just don’t know why. The next step is to locate exactly where in the entire metabolic process the problem is. Then we can narrow down where in the nDNA the mutation might be hiding. We are bursting at the seams with frustration but there is nothing we can do about it. From the stories I have heard this is just the nature of diagnosing a mitochondrial disease- complicated, difficult and it takes time. I have read stories where families have been waiting for years and still don’t have a diagnosis.
I can’t believe that Christmas is already here but at the same time when I remember back to last Christmas it feels like it was three years ago. I am having a really hard time this year. I find myself just going through the holiday motions. Buying a tree, decorating, buy gifts, wrapping… like some sort of robot. I don’t feel sad but just numb. All I want is to watch Natalie’s face when she comes down the stairs and sees her stocking and dollhouse, I want to watch Cara play with her new switch toys and iPad, then I just want to curl up with my girls and go to sleep. I am hoping when Christmas Day comes and I am surrounded by family and good spirits I will feel something. Something besides frustrated and on edge. Right now I am feeling a little more like a Scrooge that just wants to get it over with. The one thing that does make me a little sad is that I am such a Scrooge this year. Christmas is normally my favorite time of year.
Cara is continuing physical therapy and augmentative communication every week. The physical therapy is a lot of work and a lot of tears. It takes her most of the day to recover. Augmentative communication is all fun. She does get very tired but it is the physical work that really pushes her close to her limits. She can really only do about 20-30 mins of physical work with breaks every 5 mins. In augmentative communication we can go 45 mins with only 1 or 2 breaks. She is learning to use the switches (a button) to activate toys and she is picking up on it fast. Right now it is easier for her to use her head to activate the switch but we are working on the use of her hands and feet. I have ordered switches and I can’t wait to practice at home.
We have added two more prescriptions she will take daily that will hopefully help with her energy, strength and shorten the recovery time. L-Carnitine to help with energy and Polycitrate to treat her acidosis. This will make it 4 prescriptions twice a day and two additional prescription to use as needed. Sometimes I will refer to Cara as my little old lady because of how often we go to the hospital, her number of doctor appointments and how often I am at the pharmacy for her.
Right now I have no idea how long this current testing will take. I am trying to push the thought aside for at least a couple of weeks and enjoy the season. “Trying” being the operative word.