Thursday, November 15, 2012
We just went and had our neuro appt to discuss the findings from the muscle biopsy. What are the findings? Well the good news is he said that all the mitochondria were functioning at good levels. He said that it may be because where the mitochondria in his body is attacking the upper part of his body, not the lower part where they took the muscle from. However, it showed that there was particles of fat in his biopsy and thats not supposed to be in there. And that is a big sign of mitochondrial disease. So thats why the neuro said that the mitochondria in his lower part of his body could be working fine but that doesnt mean the top part is. So because of this he said that he has officially diagnosed Jake with kearns-sayre syndrome. Here is a little bit about it: Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS. Thankfully, right now, Jake only has the eye problems. His droopy eye lids and his eye muscles are very weak. But I believe he is on the road to having kidney problems. He is having some kidney issues right now that the docs are having issues figuring out whats going on. So they are putting that to the side for now until something becomes more severe. This new diagnosis is pretty hard on me. I am not quite sure why. I knew going into it that he had mito. But I guess I just kept thinking that maybe the doc was wrong and that it was just a fluke. But when tests start to become abnormal...it scares me! But it FINALLY shows me that we have FINALLY found what we have been looking for, for so long. Jake FINALLY has an answer to everything. But that still doesnt make me feel any better. Mito is a BAD disease!! It is not something we want Jake to have. There is no cure for it. There is nothing we can do to make it better. No diet, no meds, NOTHING. We can change some things to make him comfortable and help the disease not progress as fast...and we will try everything possible for him to feel better. I know that there is not a day that goes by that he is not in pain. And so I am trying so hard to lessen that as much as I can. So I guess until we know more...we just keep on doing what we have been doing!