Friday, July 5, 2013

Two Years Ago

Something magical happened this morning! On the two year anniversary of our diagnosis, a story was posted by reporter Sydney Lupkin on about the possibility of removing bad mtDNA from an egg and replacing it with donor mitochondria. I know this topic has a lot of diverse and dramatic point of views, but my hope is that this will help push mitochondria disease research even further.

The article....
"The argument that three-person in-vitro fertilization is a step toward engineering "designer babies" doesn't make sense to Lori Martin, whose 4-year-old son Will was born with an incurable genetic disease and likely won't survive past childhood.

Three-person IVF, called mitochondrial transfer, may be on its way to fruition in the United Kingdom as a means of eliminating mitochondrial diseases like Will's by swapping out the genetic material that causes it.

"I could never imagine myself trying to engineer some insanely talented kid because my first kid that I created had this terrible disease," said Martin, who lives in Houston. "It just doesn't register in my mind that way at all…They want to give another child a chance to have a healthy and happy life."

Read about 3-person IVF and the UK's push to make it a reality.

Will has a mitochondrial disease called Leigh's disease, which renders his cells unable to turn food into fuel. Like all mitochondrial diseases, which include muscular dystrophy, it's passed down from the mother via mitochondrial DNA and has no cure.

"There's no crystal ball to tell you what's going to happen tomorrow," Martin said. "He could wake up tomorrow and have lost all function. There's no rhyme or reason."

Click the link above to continue reading...

And this is my original post that I wrote last night...
I love having friends with perspective, friends whose lives do not fit in the predetermined box that society has created for us, but friends whose box is filled with life experiences and perspective.

I've been thinking a lot about July 5, 2011 - for obvious reasons. It was the day we received Will's diagnosis of Leigh's Syndrome - progressive, fatal, life changing. I still find those words hard to swallow and I don't think I'll ever digest what that really means. I will never be able to erase that morning and the days that followed. They are crystalized in my memory - and my memory kind of stinks some days. Why can't that be the thing I forget. Because if I forgot, it wouldn't do me any good.

Two years. Why does that seem so insignificant to me right now? I want 20. Screw you 2. I know I'm selfish. I've gotten 4. About 36,000 hours of life. That's like 35,000 more than some of our mito friends get. But screw that. Will has worked every minute of those hours to simply live. We've worked every minute to give Will a happy life. Filled with joy. Albeit a lot of unpleasant experiences, I think we've succeed.

I saw a friend post a link on Facebook and I went off on a tangent of reading - perhaps a tad bit of procrastination from the project I was doing for work... At any rate, this struck me and while I may forget the exact works after I hit "post" I never want to forget the notion of the below thoughts.

I've lost touch with friends because of life, chosen to cut free from friends who are not supportive and gained a lot of new friends. Thank you to our family, friends, medical community and all you blog stalkers for your support the past two years. We are surrounded by a team of wonderful and amazing people who lift Will up every day. I will forever be eternally grateful for the massive outpouring of support our family has received.
Health is not simply the absence of illness. Real health is the will to overcome every form of adversity and use even the worst of circumstances as a springboard for new growth and development. Simply put, the essence of health is the constant renewal and rejuvenation of life.

A critical illness gives one a chance to think of one’s death and reflect on one’s life. One can use the suffering of illness to face these deepest issues of life and death.

Suffering is the fuel of wisdom, and it opens the way to happiness. Illness, for example, can help us gain insight into the meaning of life, develop a deeper appreciation of life's value and dignity and ultimately enjoy a more fulfilling existence.

Illness is part of life. From the perspective of Buddhism, the important thing is to summon the courage to fight it with the determination to make a breakthrough. True health is found in a positive and constructive attitude.

One should take advantage of the power of medical science to regain one’s health. But it is the inherent power of life within us that will ultimately bring out the benefit of the treatment.

Human life is indeed wondrous. You may be ill physically, but as long as your spirit is strong, it most certainly will exert a positive influence on your body. There may be no better remedy than hope.

Confronting illness can be an opportunity to awaken to the profundity of life. A person who has faced a major illness knows how to deeply savor life.

So I hope to get 20 more years. In 20 years, I'll hope for another 20 and then some. Hope for a viable treatment, hope for a cure, hope must simply be enough for me and for today, hope is on the here.


  1. What a great article Lori!! Your family is truly making an impact on the world!!

  2. Wise wise mama, thank you again for your continued openness in sharing this journey. Biggest hugs! I have hope too and I am rooting for you always. So much power behind these words.