Wednesday, September 14, 2011

Yesterday I had the opportunity to speak to the Rotary Club here in our town about Mabel and mitochondrial disease.  I realize that we don't have a definite diagnosis as of now, however, I am passionate about the disease regardless and this is why:
It is as common as childhood cancer, affecting 1/4000 children.
Many diseases are related to mitochondrial disease or linked to it such as Parkinson's, Alzheimer's, type 2 diabetes and even cancer.  Also, certain medications can cause a defect in mitochondria causing symptoms of the disease.

If Mabel doesn't end up with mito, I would be surprised.  It is the only disease/syndrome that explains all of her symptoms.  Typically when there are more than 3 major organs affected in a child without another syndrome being the cause, mitochondrial disease is what fits.  What is affected with Mabel right now?
Her neurological system (seizure disorder, developmental delays)
Her optical system (retinal dystrophy)
 her muscular system (hypotonia or low muscle tone, ataxia or inability to control muscle movements.)
her auditory system (impaired hearing to one ear.)
her gastrointestinal system (severe constipation, reflux and poor weight gain).
Out of the 13 symptoms listed on mitoaction.org, Mabel has 9.  That's an extremely high number for this not to be related.  Not to mention that there are other clues leading the Dr's to believe that this is what our lady has.
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Anyway, back to my first speaking opportunity-
It went great.  I took Mabel with me, explaining that I didn't just want to show them her photos because I wanted them to walk away remembering Mabel and not just mito.  This is a little girl who deals with alot but she is Mabel, aside from any disease or disorder. 

I spoke about our journey, statistics, state programs that are available and wonderful along with the 5k race.  It was amazing to be able to start the process of raising awareness and to do so in front of many influential people in our community was a huge blessing!

I explained one last thing that I want to just touch on once more.
Mito is called the invisible disease.  This is so incredibly frustrating for families because although Mabel looks beautiful and healthy to the natural eye, there is alot going on inside of her little body at all times.  It's a war that rages at an unseen, cellular level and I believe that to be true whether she has mitochondrial disease or not.  Aside from Mabel's invisible physical war is the often invisible emotional war of us, her family.  There are moments of complete joy, of course.  There are moments that we celebrate and socialize and interact with friends with great enjoyment.  And then there are moments, even days of complete fear and despair that is overtaking.

My greatest advice to friends or loved ones of someone dealing with a disease or rare disorder?
Don't forget that despite a "normal looking" appearance, things are still not ok.
Not physically for the patient and not emotionally for the family.
It's ok to acknowledge it, bring it up and talk about it but DONT forget it.  Don't just assume that they are doing well because they might be having a good moment or a good day.
This thing is lasting and hard.  And we need all the support we can get.

I told someone recently that I thought if something terrible happened to Mabel there would be many people who showed up for me and may say, "we didn't realize it was so bad..."
[I'm not saying that I think something terrible will happen, but I'm not saying it hasn't crossed my mind either--obviously it does in a normal grief process]
I don't want to have to explain in great detail every day how awful our little girls seizures are or video tape the process of digging out her poop every night or have to explain the horrible thoughts that run through my mind in order for the people who love us to understand that whether it looks like it or not--
It might be that serious.

I suppose what is so hard is the not knowing; the uncertainty of it all.
However, I know a God who holds the world in His hands
...and He knows...
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Anyway, I was thankful and humbled to be able to speak about Mabel and am looking forward to this being the first of many chances I get to do so. 

We recently took her second seizure medication up a dose to help with her seizures at night time and so far things are good.  I'm thankful!

I don't know if I mentioned that we added vision therapy to our weekly schedule but we did and we love it!  The photo above shows her 'light box' in the background.

Rachel is currently putting together a Mabel's Able Auction for Awareness that will be done completely online.  If you sell something or know of someone who may like to donate an item for the auction, please contact Rache for more details at rlpettit at live.com 

Date night tonight!  Looking forward to some much needed talk time with my guy.
Happy Wednesday! ♥

1 comment:

A Day The Lord Has Made said...

Fibromyalgia is another medical issue that is silent but on the inside it's excruciating ... I know that God is guiding me and everyone out there to raise awareness for these "I look fine on the outside but inside I'm battling a war" conditions we don't have a voice unless the word gets out and gets heard much love always
A day