Friday, September 21, 2012

A Small Step for Mito Awareness -

Ok, I actually think this is a HUGE step for Mito awareness...

My friend Rachelle worked up the most amazing gift I've ever gotten - an opportunity to post about Mito on Well, today the story posted! Please pass it on to others. I just want more people to know about the disease and it's devastating effects.

Happy almost end of Mito Awareness Week! I hope you are able to make every day a Mito Awareness Day!

(If you want to share this, please be sure to include the link back to

Please note the Facebook chat on CNNHealth today at noon ET or 11 a.m. CST. I hope to see you there.

Editor's note: Join CNN Health for a live Facebook chat about chronic disease at noon ET Friday, September 19, at
(CNN) -- On July 5, 2011, my husband and I were told that our 2-year-old son has an invisible killer living inside his body.

Just a few short years ago, I was happily pregnant. Now, suddenly: Why? What? When? All these questions came with so few answers about a disease that few know about or understand.
That invisible killer is called mitochondrial disease. Our son's specific mutation is called Leigh's Disease.
We're one of the lucky ones. It took us only a year to get a diagnosis -- a year filled with anesthesia, a CAT scan, a muscle biopsy, a lumbar puncture, an MRI, an echocardiogram, an EKG, specialists and so on. Most families spend years attempting to find a diagnosis because of the complexities of DNA sequencing.
This silent killer is attacking our nation's children at an appalling rate. According to the United Mitochondrial Disease Foundation, every 30 minutes a child is born who will develop a mitochondrial disease by age 10.
As a first-time mom, I had no idea that I should have been scared of mitochondria. All I knew was some fuzzy science from high school biology about mitochondria being the powerhouse cells of our body.
Mitochondria 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. Cell injury and even cell death follow.
If this process is repeated throughout the body, whole systems begin to fail, and that person's life is severely compromised. The disease primarily affects children, but adult onset is becoming more common.
We were told that diseases of the mitochondria appear to primarily damage cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. (Excuse me, but what's left?)
Symptoms may include loss of motor control, muscle weakness and pain, gastrointestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual or hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
Mitochondrial disease is similar to cancer in the way it presents itself -- it can manifest in many forms.
Our son currently presents classic Leigh's symptoms: He has four brain lesions near the deep cerebellum. As his body is attacked with viral infections, fever or even as he gets overheated, he is at risk for additional brain damage that ultimately will result in system failures.
My husband and I were told on July 5, 2011, that our son will die an early death. There are no treatments; there is no cure. We left the doctor's office with instructions to start the "mito cocktail" of supplements, continue with therapy and keep him from getting sick.
We also left the doctor's office with a huge, gaping hole in our hearts. Within a matter of seconds, this huge piece was ripped out and we still haven't quite figured out how to put it back together. Our hearts are bigger now -- we can accept more and give more -- but I don't think the hole will ever mend.
It's National Mitochondrial Disease Awareness week. For us, every day we're deeply aware -- our son is lucky.
Our doctor says he has a mild case of what will one day kill him. We get to hear him say, "I love you" and watch him laugh with friends. So many other "mito" kids can't even roll over, swallow their food or see their favorite "Veggie Tales" character on TV.
There are a lot of days I don't feel so lucky. But then this tow-headed goofball comes barreling at me wanting to give me a bear hug (complete with sound effects) and it snaps me out of my sadness.
My son is my hero. He pushes us to keep going. He is the one enduring endless blood draws, hospital stays and experimental drugs.
There is no cure, but there is hope. Recently, Edison Pharmaceuticals received approval for the drug EPI-743. We're one of 128 people in the world who somehow managed to get a spot in the program.
Essentially, the drug is supposed to help Will's mitochondria function better, giving him increased energy and a chance at a better quality of life.
I often find myself feeling guilty that we're on it when there are so many others who should be. Likely, by the time the Food and Drug Administration approves it, many of these children will perish. It's not a cure, but it is a sign of hope.
You might be wondering how you can help. The first thing I would suggest is to get informed. Organizations like the United Mitochondrial Disease Foundation or websites like are good starting places.
Second, get involved. Find your local UMDF chapter and join one of the Energy for Life walks.
And lastly, you probably know someone whose child suffers from a silent or chronic disease -- autism, diabetes, multiple sclerosis, mitochondrial disease or cancer. We all just want to be "normal." A hug, a kind note of support or just a friendly smile at the grocery store goes a long way.


  1. Great article, Lori. Reading it made me recall May 2004 when my daughter Lily, then 16 months, went through the same battery of tests you wrote about---and then was diagnosed with what doctors at Stanford's Lucile Packard Children's Hospital believed was Kearns Sayre Syndrome, a lethal mitochondrial disease.

    Living in Salt Lake City, I have since stuck to a "better fit" for Lily with one of the world's finest geneticists, Dr Nicola Longo. He doesn't focus on the nitty gritty of the end result--but rather, let's focus on making life great for Lily now.

    Still believed to be a mito disease (myopathy), Lily was expected to see her 5th birthday according to the Stanford folks--if she was lucky. Now 9 years old and regularly busting her old man's chops (happily, mind you), Lily uses a walker on good days, stays in my arms on the bad, and is basically a hard-working, tenacious, resilient little girl who is growing up. The proudness I feel cannot be summed up in words. Let's just say it brings tears to my eyes.

    Lily is everyone's best friend and could warm Russia's immense frozen tundra with her smile. Sounds like a proud father, I know... but I'm serious. The kid may not have been blessed with kick-butt mitochondria cells, but make no mistake, she has some special gifts. Over the years I've become sensitized to the fact that every child--no matter their ability--has special gifts, and it's especially true in kids who face these uphill battles. They take everything in stride so much better than anyone else. We can learn so much from them in terms of what's really important in life and what the ultimate point is.

    They give us strength!

    Lily is my hero. Joe Wise is my hero... and Will, though I haven't had the privilege of meeting him as of yet--he's my hero too! Unfortunately, I've seen mito firsthand and know of it's ability to take so much from Lily--and myself--in the way of frustrations, sadness, hurt, questioning, etc... but what mito has also done is made me a better person who feels as if I've been empowered with resilience I never really knew I had.

    I hate mito to be sure... but I LOVE the people I've met because of mito. People of strength and character and compassion and care. The real deal.

    Peace to you and your family, and I hope Lily and I have the opportunity to meet you some day.

    Matt Finnigan
    (and Lily too!)

  2. OMG, Lori, big fat tears in my office at work. Clicking on that link, seeing one of my favorite pictures, and CNN Health? WOW. Overwhelming. There are no words to say, except as always I'd like to be "there for you" in whatever form that may take at the moment. Its immensely frustrating for everyone that there's so little we can actually do. I know you get that, but its true. The article is fantastic, and I think "awareness" is so hugely important right now. People need to know this is happening. They need to support research. Not just for kids like Will but for people with Parkinson's, M.S. and all the other mito involved illnesses. I hope people can see this isn't "rare" but that it affects so many and its important to fund research. I will post this article on Facebook tonight when I get home. Biggest hugs to you! Will is a hero, but SO ARE YOU MAMA! WELL DONE!

  3. Hi Lori & Neil, I read your article on CNN, and it reminded me of a Ted Talk I saw months ago. I know absolutely nothing about MITO (but I do know about the mitochondria, as I am a bio and anatomy teacher), so I apologize if this information is completely useless for you, but I thought it was coincidental enough that I search you on the web.

    Here's the video:

    I hope your little man can grow up into a big man! Blessings..

  4. Lori, I just got an email from a friend who recognized you guys while reading CNN on his lunch break. This is really huge. I didn't even facebook it yet, but my friends are finding it. Its THAT visible. So so amazing.

  5. Fantastic piece, Lori!!! So well-written and so excited that you are on CNN! Trying to imagine how many people are reading you...

  6. I want to thank you for sharing your story. I had no idea that such a disease even existed. It really made me pull my head out of my - well you know. My beautiful boy is 9 and just started the 4th grade. He has aspergers and the school year is not starting well. This week we had a contentious meeting with his school. They want him in special ed, I won't allow it. I've spent the week feeling sorry for him, for me, for his teacher etc. Well, no more. He's healthy, absurdly smart and wickedly funny. Thanks for reminder of how fortunate I truly am. I can't promise I'll raise awareness or money for mitochondrial disease, but I will send my best thoughts and positive energies to you and all families facing this challenge. And I'll do my best to face my challenges with the same courage you have shown. You're right, the hole in your heart will never close, but it can be filled differently with the spirit and good wishes of people like me. Your story and your son's journey have changed me. Thank you again for sharing.

  7. Have you tried the GAPS diet? I know it may seem like a long shot, but it is curing or greatly helping people with many different illnesses, both physical and mental. I have read that some have mitochondrial problems as well as others (such as autism, asthma, depression, etc. I encourage you to look into it. The author is Dr. Natasha Campbell-McBride. Best wishes to all of you!

  8. Thank you all for the great comments, sharing your stories and just great support. The Mito community is out there holding strong and while I'd rather be in another less group :-), I'm happy to have "met" so many. Lori