Saturday, September 22, 2012

Speechless & Humbled

I woke up next to the most wonderful baby boy in the whole world this morning. I watched him wake up, stretching, fluttering his eyes, a little cough, a red cheek wet from drool.

He has no idea what he did yesterday. He made all our family, friends and even many strangers take action to learn about mitochondrial disease.

I am just so deeply humbled right now I can't even begin to explain it. My heart is so heavy so many days, but I woke up feeling like we had made a difference.

We're watching the ever dreaded Barney right now, Will is trying to sing along. I am sitting here looking at the incredible things that happened yesterday.....

The story was posted about 7:45 a.m. CST on Friday morning on "health tab" in the general list. By about noon the story had jumped to the lead health story and made it to the CNN home page. Mito was the top trending health article on CNN yesterday. It even beat "Lady Gaga Smokes Pot" story for a long time! It remains the top "health" tab story this morning.

So what good came from this? Things I know for sure:
1. Thousands of people who never knew this disease even existed now know.
2. UMDF received a call from a woman on a mission to help her child and saw the article.
3. UMDF also received a call from someone who wants to run the Chicago marathon to raise money for UMDF.
4. I received two emails from parents on a similar journey and are searching for a diagnosis, but because so many (doctors included) don't know about Mitochondrial disease they don't know what to offer.
5. We are incredibly lucky - mostly that we live in a place that offers extraordinary access to care. Without Dr. Koenig and her entire team at the UT Mitochondrial Center of Excellence we would be lost.

And last, I am deeply humbled. The efforts our family, friends and strangers have taken in the past 24 hours leaves me without words. Please know how deeply we appreciate the posts, forwards, special photography discounts (Sara Catherine!) and the outpouring of support.

I have often wondered why Will. Why us? I continue to wonder that, but the past 24 hours have opened my eyes. I would of course prefer to be blind to all of this world, but we're not. So, let's take action. It's this kind of awareness that I truly believe will help Will and all our mito friends. Awareness = Education = Research = Funding = Treatment = Cure.

Of the 250+ comments on the article, there are some really mean ones, "wacky" ones, misinformed ones, but the vast majority are so heartwarming and meaningful to us. Thanks to all those who posted the nice ones and for our "defenders" - pretty sure an STD didn't cause this wretched disease as some one commented... LOL all you can do is laugh sometimes.

So where do we go from here? All this great awareness... knowledge... compassion... I'm asking you to try and pick one day a week to keep spreading awareness.

YOU are making a difference in our world and in so many others. Thank you, a million times over. I'll make an awkward request, if you have some spare change, even five dollars would you please consider giving to UMDF? They fund research and grant programs to help all those with mito, including kids like Will. It's why groups like Edison / EPI-743 are starting to come together.

I want to leave with one special thank you to a very special person. Rachelle Khalaf. She is the reason why this whole thing came together. Her family has its own special circumstances and she went out of her way to make this possible. She continues to amaze me in all that she does. People have said I'm strong, but Rachelle might just be the strongest woman I know. Thank you.

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.

Thursday, September 20, 2012

Support - Mito Awareness Week

Last night we headed to California Pizza Kitchen for dinner, for what I thought was going to be a smallish group. Boy was I wrong.
Our group seemingly took over a portion of the dining room. I was amazed and humbled that people drove quite a long distance just to come support Will and Mito awareness.
I forgot my camera (!) but my mom brought hers; I will post some pictures later, but for now I just wanted to say thank you to:
The Abbotts, The Mitchell's, The Zobac's, The Kotzubue's, The Brod's, The Peterson's, The Vinklarek's, The Wooten's, Ms. Monica & Gabriel, Ms. Janet, Ms. Maria, Ms. Milly and of course, my sisters and parents. More than 30 people!
I know that many others were there in spirit with us and that some are going to CPK around Texas - shout out Piesker family in Dallas - and that others are going throughout the week in Houston - shout out Beth William's family and Jennifer Moore's family! (Don't be offended if I missed you, these are people who posted on FB or blog that they have gone/are going - if you go, post a comment :-) !)
Lisa made some Mito cookies for the occasion - nutter butters and lady fingers with green icing "mito" on top.

I was also so happy to see Elizabeth Baker and her family tonight. They just found out not a week ago that their son was diagnosed with Leigh's as well. I know this might sound silly, but I was so incredibly proud of her. I think back to when we found out and I'm pretty sure I was still hiding under the covers recovering from a nervous breakdown.
I really don't know what I would have done without all the amazing support we receive from our family, friends and even strangers. Just knowing they are there and that I could call them anytime is an amazing feeling. Thank you for letting us fall apart and helping put us back together.
And now, some Leigh's-specific Mito facts:
Leigh's disease is an inherited lethal, progressive, predominately pediatric, neuromuscular disorder, for which there are no approved treatments or cure.
A child with Leigh's often appears normal at birth but typically begins displaying symptoms within a few months to 2 years of age.  Initial symptoms can include the loss of basic skills such as sucking, head control, walking and talking.                                                                                                                    
Understanding Mitochondrial Disease has the potential to transform medicine and improve the diagnosis and treatment for a range of diseases that affect millions of people.
Mitochondrial dysfunction is implicated in many more common illnesses like Alzheimer's, Parkinson's disease, diabetes, hypertension, osteoporosis, some cancers, and the aging process.

Tuesday, September 18, 2012

Hope - Mito Week

Happy Mito Awareness Week everyone. It's Tuesday, day 3. Only 4 official days remain. We'll be at the California Pizza Kitchen on San Felipe Wed. night at 6 p.m. - don't forget to print your flyer!
Yesterday, (Monday) I was overwhelmed with support. So many facebook friends have gone above and beyond. They have dedicated their cover page to Will and Mito awareness. Our friend Sara, or "Ms Big Sara" as Will calls her, created a cover photo for us to use to spread awareness. (She's not big, just tall, but she got the nickname in high school, when she was still not big, just tall).

Photo: If you want a profile pic instead of a cover photo for Mito Week...
How cute is that?
Then, I got this email from our friend Sheila as she was preparing her own outreach efforts in San Antonio, it put me over the edge...
"My plan for this email was to put a lot of information and links about Mitochondrial Disease, but then something happened on Sunday that made me change my mind and so I have decided to share something else instead.  I have a 4 year old daughter, Abby.  She knows Will and knows that he has a "sick" inside his body.  Every night she says a prayer especially for Will asking God to make Will's "sick" go away.  On Sunday I asked Abby if she wanted to color some of the Mito coloring pages I had printed from the UMDF website so that I could put them on my office door for Mito Awareness Week.  She asked my why I wanted to do that and so I told her that we want to tell a lot of people about Will this week so that we can all help the doctors make Will's "sick" better.  Then she asked me "how did Will get sick?"  Which we have talked about before but I explained to her again that the sick was just there in his body already when he was born and sometimes that right now the doctors don't know how to make it go away and that's why she saves money in her special Will piggy bank and why we need to tell a a lot of people so we can help the doctors. 
Well...she started colored the pictures, and we went on with our day.  When nap time came we went up to her room and got her settled and then she just looked at me and started crying.  Now this is nothing new for her...she is in the cry about anything and everything phase of being 4, I figured one of her nightlights was not on or something as equally as devastating
But when I asked her why she was crying she just put her head down and said she was crying because she was just really worried about Will and that she didn't want him to be sick anymore.  Now this just floored me...she was seriously was all I could do to keep from crying myself.  It was like she all of the sudden understood what we have been talking about with Will since last year, and she understood the seriousness and sadness of Will's situation.  Watching a 4 year old come to terms with this information was crazy and disturbing and impressive all at once.  
Later as I was thinking about what to say in this email this year I thought about Abby and how much she wants Will to be better and I thought if I can share this with you than maybe that would make more of an impact than the clinical info about Mito.  During this week I hope that you will just talk to anyone and everyone who will listen about Mito and about Will.  Over this week I will send more information about ways to help the cause, in the meantime you can check out the United Mitochondrial Disease Foundation's website at
Abby and Will at the Energy for Life walk in Houston.
Part of why Sheila's email hit me hard was the fact that one day, we're going to have to explain Will's situation to Will. How on earth am I going to do that? How am I going to explain it to his cousin Carson, his "best bud" as they call each other. I can barely deal with this in my own head. It's enough to make my head spin, tears fall and my stomach turn.
Then I realized, by damn, I hope I get to explain it to him one day. That means he will be old enough to understand, have the cognitive ability to understand and me and Neil to help him get through it. I hope I have the time to have more kids and get to explain it to them and for Will and his brother or sister (or both) to be there for each other.
I can't see Will past the age of five. That's just two short years away. I hope that I get him for a lot longer than that. I hope that he will be able to enjoy the brother or sister that I should be pregnant with, but that I'm not. I hope for so many things, but it's people like Sara and Sheila and her family that give me hope that one day enough people will know about mito and one day there will be a cure for kids like Will.

Thursday, September 13, 2012

EPI-743 now Orphan Drug!

EMA Grants Orphan Designation to Edison Pharmaceuticals for EPI-743 for Treatment of Leigh Syndrome

Clinical development of EPI-743 underway in Europe & the United States Mountain View, California; September 12, 2012. Edison Pharmaceuticals announced today that the Committee for Orphan Medicinal Products (COMP), European Medicines Agency, has granted orphan designation to EPI-743 for the treatment of Leigh syndrome.

In their decision the committee noted, "… the COMP delivered for a first time ever a positive opinion on orphan designation for the treatment for Leigh syndrome, for which no authorized treatments exist in the EU. This syndrome is a very rare and severe disease caused by mutations in mitochondrial respiratory enzymes, leading mainly to neurological deficits and a poor survival for these patients."

Under Expanded Access in the United States, Edison has studied EPI-743 in 80 subjects with mitochondrial disease. Of those subjects treated in the Expanded Access program, 23 had been diagnosed with Leigh syndrome. Favorable data obtained from the treatment of these children, as well as those treated in Europe under both compassionate use and a phase 2A study, formed the basis of the company’s COMP orphan designation application.

Results of a recently completed phase 2A study entitled "Prospective Open Label Study of EPI-743 in Children with Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)" will be announced soon.
About Edison Pharmaceuticals Edison Pharmaceuticals is a specialty pharmaceutical company dedicated to developing treatments for children with orphan mitochondrial diseases. Contact Information Edison Pharmaceuticals, Inc.
350 North Bernardo Avenue
Mountain View, CA 94043

Getting one step closer to making this drug available for all who suffer from Leigh's. It's a slow moving ship and I fear it won't get to market in time for many Mito friends. I thank God every day that we are able to be part of this drug trial. There are people like Dr. Gregg Enns who work tirelessly to help push research and clinical trials; he and others like him arereal world heros in my book.

You can help support him and others who are turning research and theory into meaningful and positive clinical trials by supporting the United Mitochondrial Foundation, They help fund doctors and researchers like Dr. Enns in the hopes of one day finding a cure.

Here is a link to UMDF's funded projects list:

My little super star!

Another option you could link / post on Facebook!

Nicole Schaper

Wednesday, September 12, 2012

Mito Awareness Week

Have you missed me? Well, I'm going to be back in full force in the coming weeks to help shed some light on an ugly disease, I hope you'll join me for Mito Awareness week, Sept. 16 - 22.

If you'd like to support us next week for Mito Awareness week, please consider changing your Facebook profile photo to help promote awareness. Above is an option if you so choose.

After Will was diagnosed with Leigh’s on July 5, 2011, he kind of got obsessed with reading this one particular book, “The Rain Came Down” and wanted to read it every night. It starts out with chaos in a house because of the rain coming down – the dad yelling at the dog and waking up the baby; then it goes on to a truck driver trying to deliver tomatoes, grocery person knocking over his fruit stand, a little boy chasing a paper boat in the gutter and splashing a little girl and so on.

And then magically, the rain stops. All the “Honking, yelling, bickering and barking stopped and the air smelled fresh and sweet” (I have most of the book memorized now as he still loves it). At the end of the book, the family it started out with concludes the book by “having a picnic in the backyard while the baby, chicken, dog and cat slept in the warm afternoon sun” – After he was diagnosed I could barely get through that last page without shedding a few tears. I still get choked up.
I just want that so badly. I just want to be content and add more babies to that page. I could do without the chicken, but if that meant having that idyllic ending I’ll take it. I just want to worry about whether or not my kids will play soccer or basketball; make As or Fs; fall in love… I just want that with my whole being and it just feels like it’s not going to happen.
Random addition to the post, but it's what I'm feeling today. We read that book last night together and yesterday was a really rough day for a lot of reasons. Additionally, please say a special prayer for another family who I know just experienced their "July 5" as they received a Leigh's diagnosis for their sweet baby. 

Thursday, September 6, 2012

Mito Awareness Week - Sept. 16 - 22

In just a few short weeks the entire nation will be recognizing and honoring  Mitochondrial Disease Awareness Week.  For those of us in Texas we are trying to give back and pay it forward all at the same time!

California Pizza Kitchen has graciously agreed to donate to MitoAction 20% of the revenue for those who dine-in, take out, cater or curbside pickup (and bring this flyer) the week of  September 16-22 , 2012 FOR THE ENTIRE DAY and AT ALL TEXAS CPK LOCATIONS.

We will likely head over to the San Felipe at the Loop / in the Galleria location on Wed., Sept. 19 for dinner if anyone wants to join.

Tuesday, September 4, 2012

Unbelievable Labor Day weekend

What an unbelievable weekend…. I just couldn't not post this.  
Friday night – Neil started feeling funky. He and Will went to bed early and during the night he had the cold sweats, achey and headache woke up with a 102 temp.
Saturday morning – Will and I evacuate the house and head to my parents in the hopes that Will doesn’t get sick, even though Will and Neil had spent some serious time cuddling in bed.
Saturday afternoon – spent on the phone trying to get Will a prescription for TamiFlu. Neil goes to the ol’ Doc in a Box and is diagnosed with walking pneumonia. Gets a zpack. All that calling around for TamiFlu was pointless, but I’m glad we did it.
Sunday - Neil is still sick, temps ranging from 99.9 – 102.
Monday morning – Neil still has a temp.  Then, I start throwing up among other things. Then my dad starts, then we hear from my sister that my nephew starts, then my sister starts.
I’m so pathetically sick that I can’t even drive us home Monday night. Plus, we were worried that Will was eventually going to get the stomach bug or Neil’s walking pneumonia so we called in for reinforcements from San Antonio. Neil’s parents drove from SA to The Woodlands in Labor Day weekend traffic, picked me and Will up, got us home and all of us in bed. Barf bags are kept handy.
Tuesday – Neil wakes up temp free; I’m not barfing anymore, but still am really weak. My mother in law gets Will fed, dressed and to school meanwhile Neil and I are slowly starting to feel better. I keep down some soup and crackers.
We’re still on the mend over here, but by some weird twist of luck/fate Will hasn’t gotten sick. I am just so in shock. Knock on wood. He has some green snot, but that I can handle. What Neil and I have had is just not good.
So, please pray that our little bud manages to keep the germs away. I don’t know what we would have done without our parents these past few days.