I am sitting here struggling between understanding the complex beast that is mitochondrial disease in order to gain a grain of patience and bursting at the seams with frustration from waiting. It has been four weeks since we gave the go ahead for the most recent testing and we are still waiting to hear back from Case Western. I wonder the reaction I would get if I came through the door of the lab at “The Center for Inherited Disorders of Energy Metabolism (CIDEM)” at Case Western and followed the director around with a “Are you done yet?” every few minutes. Think it would make him hurry or screw up?
This test is using skin fibroblasts and measures the function of the mitochondria which would definitively confirm that there is a problem with mitochondrial function, and to localize what aspect of mitochondrial function is impaired. Once we get the answer to this they will narrow down exactly where in the nDNA hay stack this needle might be hiding, test, wait some more, and hopefully finally have a diagnosis. Most tests using skin fibroblasts take 3-4 weeks but since this test is new and only one or two people do it, we have no idea how long it will take. Because it has already been 4 weeks I have the “any day now” mindset and it is making it much harder to wait.
As hard as this waiting has been I hear about the stories of so many mothers who have lost their children because of this disease and of the many families that have waited or have been waiting for multiple years. I am so grateful that we still have Cara and that, all things considered, she is healthy.
We have recently started to patch one eye for an hour a day, alternating eyes. Her opthamologist noticed that both eyes are doing a little wondering so each eye needs a little personal training session. Not only is she really cute wearing a patch (argh, pirate baby!) but she perks up and I think sees better. My uneducated guess is that it is a lot of work for her to have to focus two eyes to see something, so if you patch one it becomes a whole lot easier to focus. Vision exercises and playing with her iPad can only be done for a few minutes at a time because she gets tired and starts to look away often. When one of her eyes is patched she can focus on objects and the iPad for longer periods of time.
For those that are unfamiliar with disorders of energy metabolism here is one of many examples of how it affects Cara. Cara and I came down with a cold over a week ago. I had some congestion and was fine after a few days but Cara is just now getting over it and is exhausted. She slept in until almost 10 and has already taken two 30 minute naps. It is only 1pm. Yesterday she could hardly sit in her chair with supports for longer then 5 minutes before she was slumping over either to the side or forward. Your body uses a lot of energy to fight off a virus and heal. For most of us a cold means a couple of days of taking it easy and a little extra sleep. For Cara it is a week of exhaustion and recuperating even after the symptoms are gone. Natalie barely slows down to grab a tissue. Cara also has a very weak swallow which combined with all that extra mucus you get with a cold sums up to a lot of coughing, choking, vomiting and constant monitoring for signs of pneumonia. This is why we do not travel or take Cara to public places, outside of her doctor and therapy appointments, during cold and flu season. Natalie has gotten into the routine of coming home from school and immediately washing her hands. When Cara is sick she gets to sleep in our room so I have quick access to her when she coughs and chokes. We now have a suction machine that, although she hates it, has been wonderful. It can clear out her nose and mouth/throat so much faster and more effectively than that little bulb syringe.
I am following a blog of a mother whose son is getting close to the end. He is around 8-years-old and is just starting to shut down. He is in hospice care at his home, funeral arrangements have been made and the parents have already started a foundation in honor of him. The amazing thing is that this little boy is very active in the starting of his foundation. He knows he doesn’t have much time left and wants to spend the time he does have to help other children with mitochondrial disease. He can barely move without pain and breathing is getting more difficult, yet he still asks his mom to buy a bunch of his favorite toys to give out to kids in the hospital. Because he wants them to be happy. He is in pain and dying and he wants other children to be happy. This made me take a good long look at myself it the mirror. Being a good person means nothing if you are only kind when you are happy. That is easy. Real goodness is a person that is still kind, understanding and selfless when they are drowning at the bottom of the well. This type of selflessness is incredibly beautiful and moving. It is amazing how polarized the world looks when you love and care for a special needs child. It opens your eyes to pure beauty and the darkest ugliness. Maybe heaven and hell isn’t a place you go when you die but how you live your life. How you chose to live your life.
Right now I am trying to balance up on this fence between patience and understanding and frustration and anger. I would like to lean a little more on the patience side but unfortunately, in the world we live in, sometimes you have to get angry and frustrated for things to move. Hopefully the wait wont be much longer and writing this blog has already filled my reserve a bit. As hard as this wait is for us, it is nothing compared to what Cara is enduring. Nothing compared to what so many children and adults with mitochondrial disease are enduring.