Hope is a Journey….

Archive for September, 2012

Who’s got the power???

In October of 2011, parts of the Northeastern United States faced a blackout of epic proportions.

People went weeks without power…

Everyday life came to a halt…

People had to learn alternative ways to cook, stay warm, bathe, work and communicate with others…

Now imagine waking up one day and having a similar massive black out within the cells in your body…


Your whole day revolves around whether or not your BODY (your power plant) will work effectively…

Living with Mitochondrial Disease is much like this.  You see, the Mitochondria are the powerhouse of the cell.  They are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell.

Symptoms of Mitochondrial Disease include, but are not limited to:

  • GI Tract – the stomach will not empty or is unable to digest food or the bowel that becomes unable to move
  • Neurological issues such as tremors, abnormal movements, seizures, cognitive deficits, dementia, migraines, strokes, and development delays
  • Muscles that are in almost constant pain (imagine having the flu every day of your life)
  • Kidneys that do not function to remove waste from the blood
  • Loss of hearing and/or sight
  • Liver disease
  • Autonomic nervous system dysfunction or failure (Meaning that heart rate and rhythm, blood pressure, digestion , temperature regulation, blood sugar regulation, respiratory rate, and pupil dilation are compromised)
  • Heart defects such as cardiomyopathy and heart blocks
  • Diabetes and endocrine system deficits
  • Weakness of the respiratory and skeletal muscles
  • Weakened immune systems that can turn even a mild illness into a life threatening emergency

It’s not just ‘I’m tired’ – If only it were that easy…..

 

Today marks the 4th day of Mitochondrial Disease Awareness Week, and I thought I’d share with you a few “Mito Facts” and share with you a bit about our life with Mito.

Fact:  Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10.

Fact: Each year, 1,000 to 4,000 children in the United states are born with a mitochondrial disease. Many will not survive their  teenage years.
If it were your child, would that be acceptable to you?

Fact: Yes, many adults are diagnosed with adult-onset mitochondrial disease.  Some of these individuals have been ill their whole lives but went undiagnosed.  Others have carried the genetic mutation that causes mitochondrial disease since birth but did not show any symptoms until a severe illness brought them on.  Adult mitochondrial patients are affected in a similar manner to the children who are affected.

Fact: A child or adult is at highest risk for neurological and organ damage during and for the two weeks following an illness.  Therefore even a simple flu or cold virus can have devastating effects on the patient, even death.  Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics.

Fact: While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers.  Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging.  Still others aren’t diagnosed until after death.

Fact: The child or adult may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, sever diarrhea/constipation, feeding problems, unable to fight typical childhood infections or repeated infections and fevers without a known origin.  A “red flag” for mitochondrial disease is when a child or adult has more than three organ systems with problems or when a “typical” disease exhibits atypical qualities.

Fact: Just because someone ‘Looks Good‘ doesn’t mean that they ARE good.  Mitochondrial Disease affects the body at a CELLULAR level…you can’t see that with your naked eye.

Fact:  Some days are just downright miserable.

Fact: Other days are just downright cruel.


Fact: Some days are absolutely amazing.


Fact: And thankfully, some days are easy.

Fact: Unfortunately, some days are hard.

Fact: Some days you can give your all…

But it comes at a price.


Fact:  People with Mitochondrial Disease are some of the most amazing people you will ever meet.  They have a fierceness and love for life that few can match.

Fact: Even in the worst of times….they make the best of things.

Fact:  Even with all the obstacles and challenges they face, they are driven to DO SOMETHING to make a difference.

Fact:  Mitochondrial Disease doesn’t wait for holidays, birthdays, or special occasions to pass…it has no mercy on those sacred days.

Fact: The most amazing thing that you will ever see is the incredible sense of community and love that pours out when people decide to join those who are battling this disease.


SO, as this week goes on….I ask of you to:

I would like for you to remember those who are battling this disease – it’s not just me, my children, my sister, my niece, my aunt, my mother…it’s my best of friends, countless sweet children, countless determined adults, someone’s mother or father, someone’s brother or sister, someone’s child, someone’s husband or wife that are fighting for their lives…

Fact:

And as you go through the days ahead, please keep in mind all of the beautiful and amazing individuals who have lost their lives to this disease – one life is TOO many.

TRUTH:

Please take a moment to watch this video I created last year to honor our “Little Birds

Yours Toward A Cure

Love and Light,

Stefani

Facts taken from United Mitochondrial Disease Foundation’s Website

Show Your Hope!

HOLD ON

Nature’s Gold

Nature’s first green is gold,
Her hardest hue to hold.
Her early leaf’s a flower;
But only so an hour.
Then leaf subsides to leaf.
So Eden sank to grief,
So dawn goes down to day.
Nothing gold can stay.

Robert Frost

Grief: Deep mental anguish, as that arising from bereavement.

 

October 2, 2005, our lives forever changed as I watched the innocence fade from the eyes of 3 young children as they learned their father was gone.  I watched tears relentlessly fall as I told my mother and father that the man they thought of as a  ‘Son’ had left this earth.  I watched the guilt build as my sister embraced her children and tried to explain to them ‘WHY‘  he was gone.

The Ripple Effect
In the days and months that followed his death, the fallout continued to ripple endlessly.  So…

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