Saturday, September 22, 2012
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 CNN.com "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 CNN.com 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
My friend Rachelle worked up the most amazing gift I've ever gotten - an opportunity to post about Mito on cnn.com. 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 CNN.com)
Please note the Facebook chat on CNNHealth today at noon ET or 11 a.m. CST. I hope to see you there.
Thursday, September 20, 2012
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.
Tuesday, September 18, 2012
Thursday, September 13, 2012
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, www.umdf.org. 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: http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7959777/k.A1C2/Funded_Projects.htm
Another option you could link / post on Facebook!
Wednesday, September 12, 2012
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.
Thursday, September 6, 2012
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.