The End of the Chaos?

I started this blog a year ago this month.  It I am not quite sure what defines the start and stop of our “year of chaos,” perhaps it started on 5/31/11 when Alan lost his job at his beloved CC?  Perhaps it was on 8/26/11 when Alan left Colorado and his family to head into a war zone.  Maybe it is marked by 9/7/11 when Ryan was arrested for heroin possession.  Or was it last year in November when we learned Megan had muscular dystrophy.  It doesn’t seem quite right to end this “year of chaos” until there is resolution to at least one of these? 

First on this list for resolution will be Alan’s return in early October, marking over 13 months in a war zone, working 60-72 hours per week, having rockets and mortar attacks blowing up things around him.  In such an environment, he shined bright, was promoted twice to be the Network lead for the Army at Bagram and he earned his CCNP (Cisco Certified Network Professional).  Next we hope will be a good job for Alan.

I don’t expect “resolution” to this mitochondrial disease diagnosis that our family now faces, but I hope to have more answers in this next year and perhaps we will come closer to a cure for this progressive disease.  There is hope.  One statistic I read is that 80% of kids diagnosed die before they leave their teens.  My kids don’t fit the devastating cases of the kids I have been reading about or those of new friends I have met both in person and online affected by mito.  What I have learned however is that mito is not predictable and the prognosis is really not clear.  What was originally thought of as a devastating disease (actually several diseases) of childhood (all of which ended badly) in the 1980’s when these diseases were first associated with mitochondrial dysfunction, is now a disease that it turns out has later onset cases including adult onset. 

Since the mitochondrial genome was first mapped in the 1980’s until today, they have since found over 1100 nuclear genes that make proteins critical to the proper function of the mitochondrial OXPHOS process.  Disease can be caused by mitochondrial DNA defects or nuclear DNA defects or both.  Every cell in our body has hundreds or thousands of mitochondria and each mitochondria has 2 to 10 copies of the mitochondrial DNA genome which is unique and different (but much smaller) than our nuclear DNA (which is only one copy in the nucleus of our cells).  Our body can have both healthy and mutant mitochondria and those can end up in any tissues throughout the body.  This is called heteroplasmy.  The result of this is that no two people express the disease or affected body system in the same way.  There are different root causes and different outcomes.  What I do know is that a defect in the OXPHOS process means our body can’t efficiently make energy in the affected tissues and that eventually, those cells will die.  For Megan, this was confirmed in a muscle biopsy which showed that she has deficiencies in Complex I and Complex II+III of the OXPHOS process, hers is expressed currently as myopathy.  Mitochondrial Myopathy is under the MDA umbrella and mda.org has more information as does umdf.org.  It is critical that we find a cure for MITO, children with mito are dying every day.  To find cures to solve mitochondrial disease, we might also find the key to slowing down the aging process because it turns out that aging is a slow progressing mitochondrial disease as eventually we die because our mitochondria wear out causing our cells to die.

I too likely have mitochondrial disease.  It explains so much and provides answers that many specialists I have seen in the last 8-10 years could not explain.  One of these specialists, a Neurologist was actually quite rude to me in 2010 after telling me that the brain lesions seen on my MRI were non-specific, then doing an EEG which he said was abnormal and showed seizures in my temporal lobes, also non-specific, he sent me on my way and wrote in the clinical report back to my primary care doctors that I had excessive questions about MS and Lyme.  He made me feel insignificant and stupid for even wondering and providing no answers or empathy.  I never went back.  Underlying all this has been chronic fatigue or fibromyalgia.  It turns out that central nervous system involvement and fatigue are quite common in mitochondrial disease since the brain requires a large amount of energy to stay healthy.  My complex migraines that have included stroke-like events such as aphasia and hemiplegia (complete loss of muscle control on one side) which are also findings in mitochondrial disease.  Dr. Smith is Megan's doctor and he is now my doctor.  He is a dear man who seems to really care.  My search to understand mitochondrial disease has lead to a probable diagnosis in myself which in many ways is a relief.  Besides, if I can have this at 45, it means my kids will be ok?

I am tired, I can't deny it.  Many people have asked me how i have coped with all this, how I have made it through this year so well.  honestly, talking about it has been my coping mechanism.  Also, learning everything I can about every situation I am faced with.  I have very few close friends and my best friend has been halfway across the world in a war zone.  I believe that we as human's are really stronger when we have to face challenges.  Probably the hardest thing for me has been the loss of control, or at least the perception of control I thought I had. I have been told that i like to control things and that i don't deal well with change.  Well guess what, I was hit hard with one change after the other this past year and confronted with situations in which I had absolutely no control and a "year" later i can report that i did deal with it all and for that i am very proud of myself.  I have learned to let go of some things.  I am ready for a "year of hope." hope for a good job for Alan, hope for a cure for mito and other muscular dystrophies, hope for my son Ryan's recover from addiction.  There is reason for hope.