A Little Pick Me Up - Something for All Mom's

Invisible Mother

It all began to make sense, the blank stares, the lack of response, the way
one of the kids will walk into the room while I'm on the phone and ask to be
taken to the store. Inside I'm thinking, 'Can't you see I'm on the phone?'
...
Obviously not; no one can see if I'm on the phone, or cooking, or sweeping
the floor, or even standing on my head in the corner, because no one can see
me at all. I'm invisible. The invisible Mom. Some days I am only a pair of
hands, nothing more! Can you fix this? Can you tie this? Can you open this??

Some days I'm not a pair of hands; I'm not even a human being. I'm a clock
to ask, 'What time is it?' I'm a satellite guide to answer, 'What number is
the Disney Channel?' I'm a car to order, 'Right around 5:30, please.'

Some days I'm a crystal ball; 'Where's my other sock?, Where's my phone?,
What's for dinner?'

I was certain that these were the hands that once held books and the eyes
that studied history, music and literature -but now, they had disappeared
into the peanut butter, never to be seen again. She's going, she's
going, she's gone!

One night, a group of us were having dinner, celebrating the return of a
friend from England . She had just gotten back from a fabulous trip, and she
was going on and on about the hotel she stayed in. I was sitting there,
looking around at the others all put together so well. It was hard not to
compare and feel sorry for myself. I was feeling pretty pathetic, when she
turned to me with a beautifully wrapped package, and said, 'I brought you
this.' It was a book on the great cathedrals of Europe . I wasn't exactly
sure why she'd given it to me until I read her inscription: 'With admiration
for the greatness of what you are building when no one sees.'

In the days ahead I would read - no, devour - the book. And I would discover
what would become for me, four life-changing truths, after which I could
pattern my work:

1) No one can say who built the great cathedrals - we have no record
of their names.

2) These builders gave their whole lives for a work they would never
see finished.

3) They made great sacrifices and expected no credit.

4) The passion of their building was fuelled by their faith that the
eyes of God saw everything.

A story of legend in the book told of a rich man who came to visit the
cathedral while it was being built, and he saw a workman carving a tiny bird
on the inside of a beam. He was puzzled and asked the man,
'Why are you spending so much time carving that bird into a beam that
will be covered by
the roof. No one will ever see it'

And the workman replied, 'Because God sees.'

I closed the book, feeling the missing piece fall into place. It was almost
as if I heard God whispering to me, 'I see you. I see the sacrifices you
make every day, even when no one around you does.

No act of kindness you've done, no sequin you've sewn on, no cupcake you've
baked, no Cub Scout meeting, no last minute errand is too small for me to
notice and smile over. You are building a great cathedral, but you can't see
right now what it will become.

I keep the right perspective when I see myself as a great builder. As one of
the people who show up at a job that they will never see finished, to work
on something that their name will never be on. The writer of the book went
so far as to say that no cathedrals could ever be built in our lifetime
because there are so few people willing to sacrifice to that degree.

When I really think about it, I don't want my son to tell the friend he's
bringing home from college for Thanksgiving, 'My Mom gets up at 4 in the
morning and bakes homemade pies, and then she hand bastes a turkey for 3
hours and presses all the linens for the table.' That would mean I'd built a
monument to myself. I just want him to want to come home. And then, if there
is anything more to say to his friend, he'd say, 'You're gonna love it
there...'

As mothers, we are building great cathedrals. We cannot be seen if we're
doing it right. And one day, it is very possible that the world will marvel,
not only at what we have built, but at the beauty that has been added to the
world by the sacrifices of invisible mothers.

Share this with all the Invisible Moms you know.... I just did.

The Will of God will never take you where the Grace of God will not protect
you.

To all the wonderful mothers out there!! God bless and keep you.

 

Author Unknown

EPI-743 update from Edison Pharma

I participated in the Edison Pharma update call today and below includes a brief on the updates and some commentary. I didn’t include every minute detail. The call was recorded and you can find it on UMDF’s website.

Did you know Edison has SEVEN clinical trials going on right now? Edison said there are more on the horizon, announcing them summer 2013, including those for Mito and specifically MELAS. This is all the more reason to reach out to groups like UMDF and MitoAction as well as your doctor to be prepared when these clinical trials are released, you may not qualify for the Phase IIB EPI-743 trial, but you might for another one.

• New drug, EPI-589, Edison called it the next generation 743 as they try to build a pipeline of drug for mito. EPI-589 is in late stage preclinical now. They did not elaborate on this.

• I posted about the Japan announcement recently. “Edison is very bullish on the partnership.” The company has a long history of pioneering drugs. I don’t think this means a lot to the US right now, but it sure doesn’t hurt to have an infusion of money into the drug company in general.

Update on EPI-743 Trial in the US

Edison is very pleased with the progress to date. They hope to have enrollment finished by the end of June 2013.

·         Four study sites. Seattle is NOT up and running yet, but they said it would be enrolling soon. There is significant documentation, data and criteria for Phase IIB of this trial. Edison is “very satisfied with the current progress.”

·         They hope to release data on this trial by Q4 2013

·         They have 20 of the 30 required spots full.

"Compassionate use is a yes, the question is now simply when." FDA and Edison understand that compassionate care is a hurdle, but one they are willing to try and overcome. Edison said that once Phase IIB of the trial concludes, then perhaps an expanded access program might make sense in Q4 2013. 

The other problem with compassionate care is drug manufacturing. Edison needs to ensure they have enough supply of the drug and the vast majority of manufactured drug is being used for clinical trials. The drug requires  ½ kilo / patient / year.

Criteria questions:

In general, the FDA is requiring Edison to show the drug’s efficacy (effectiveness) as well as safety on as similar of a testing base as possible. That’s why people with trach’s, clinical diagnosis or non-age appropriate cases are not being included. An ideal testing situation would be identical twins and one twin in the placebo and one twin in the real drug to test. That’s not possible and we know that Leigh’s Syndrome manifests in every way under the sun – even if the genetic material is similar or identical as in the case of families. So, they must carefully screen applicants to ensure the group is as similiar as possible.

As far as the criteria of disease regression – they again want to prove their drug works to either stop or reverse the effects of a mitochondrial disease. If you’re stable or making good progress, then there could be false positives on the drug which wouldn’t help anyone. This is also why patients with trachs are not allowed. Oftentimes there is a period of improvement after a trach is put in, creating a false positive. Did you know that nearly 70 % of all Leigh’s patients have a trach.

Someone asked so “What does EPI-743 do” – the long answer as you’d expect it from a researcher…  The Rome EPI-743 trial was meant to first remove false positives from the previous trials. Then it:  1)treat individuals in an open trial 2)explore dose 3)way that the drug works / mechanism of action, register a blood test that would be consistent with how they believe EPI-743 works. The investigator team believes they achieved all three goals.

What we now know, mitochondria has another function than to just produce energy, it also balances and regulates our metabolism.

EPI-743 works to balance two major cogs of metabolism – balance and regulation. There is a second “cog” in the mito that does electronic counting and redox. Molecularly, EPI-743 docks or interacts with NQ01 and it works as a redox factor to replenish the glutathione cycle. Here is an article from a fellow mom and mito warrior on glutathione.

(HUH??).

It also works to combat oxidated stress.

I clearly have a lot of research to do now… I don’t even have appropriate links to share for all that. IF anyone smarter than me is reading this, please email or comment with any facts you have about this process.

But suffice to say, something good is going on. I will leave the science to those who are significantly smarter than me and I will happily be our son’s advocate to getting whatever they dream up next.

EPI-743 has had 75,000 dosing days – I’m relieved, happy and nervous that Will met the criteria of the Phase I expanded use and pray for access to this drug for everyone – no matter age, diagnosis or trach.

Please, if you haven’t already contact MitoAction, UMDF or NAMDAC to get on the radar for mitochondrial disease. We spend so much time doing the daily care of our kids that it’s so easy to push this to the bottom of the list. It could be the five minutes that changes your child’s life for the better.

Disclaimer *not a doctor here, nor researcher, just someone who typed as fast as they could on a conference call.

EPI 743 gets $545 million from Japan's Dainippon Sumitomo

This is a HUGE win!! If you happened to watch that TED Talk I posted a few days ago, it talks about how many years it takes to get a drug from testing to market (14 years) and how much money (billions).


Edison Pharma Inks potential $545M Deal with Japan’s Dainippon

March 29, 2013 

 

From BioWorld: ”Privately held Edison Pharmaceuticals Inc. wooed a big pharma partner, inking an R&D and commercialization agreement with Dainippon Sumitomo Pharma Co. Ltd. (DSP) to develop lead program EPI-743 and follow-on molecule EPI-589 in Japan.

Terms called for Edison to receive $35 million up front and $15 million in R&D support. The Mountain View, Calif.-based biotech also will be eligible to receive $10 million to $35 million in development milestones per indication and up to $460 million in commercial milestone payments, as well as royalties on commercial sales. DSP gained development and commercialization rights to the compounds in Japan, but no ownership or control over development activities elsewhere.

EPI-743 is an orally bioavailable small molecule in development for inherited mitochondrial diseases. A member of the para-benzoquinone class of drugs, the compound targets the enzyme NADPH quinone oxidoreductase 1. EPI-743 is in U.S. Phase IIb trials in Leigh syndrome and in Friedreich’s ataxia, both ultra-rare indications.

The initial scope of the transaction includes both pediatric orphan inherited mitochondrial and adult central nervous system diseases. DSP will assume activities required for development, approval and commercialization of EPI-743 in Japan, initially focusing on orphan pediatric mitochondrial disease.”

And another story on it here, including an interview from Guy Miller, Edison Pharma's CEO. 
http://www.nutraingredients-usa.com/Research/Nutrition-2.0-Closer-than-you-think-and-a-tremendous-technical-and-business-opportunity

Hopefully all this will come to fruition quickly to help this little guy keep smiling!

Occupational Therapy

One of the biggest (most awesome) things about my new work schedule is that it offers a lot more flexibility and I can do so much more for Will - one of those being occupational therapy.

We started working with an OT specialist, Ms. JoAnn the last week of February, so about a month now. Wow! What a difference a month makes.

Part of the way Leigh's disease affects Will is with extremely low muscle tone - all over his body. Legs, mouth, hands etc. Anywhere you'd have a muscle it's affected. His hand strength is very low and that makes tracing, writing, drawing, coloring etc pretty difficult and tiring for him. Oftentimes he just stops mid-way through a project.

People use OT for all different reasons, previously we worked with an OT, Ms. Risa, through ECI on chewing and feeding problems. Now, we're focusing on improving hand and palm strength for Will. The goal is to get his hands stronger so he is more successful with fine motor skills, finger manipulation etc.

Some of the activities he has done with Ms. JoAnn includes digging beads out of putty, stencils, drawing lines, using tweezers to pick up small items, playing tug of war, etc. We've been working two days a week (Monday and Tuesday) for about 45 minutes each time.

Not only is Ms. JoAnn AWESOME, but Will is showing major progress. He can now cut with scissors and best of all is taking a much more active and engaged role in the classroom. He is asking for new work, new lessons and just seems so much more confident in himself. He's gaining more independence and we're encouraging that in all aspects right now.

Of course when he's tired and pooped at the end of the day, the independence seems to fade quickly, but I'm still really proud of him. Will continues to surprise us with his determination and ability. I love seeing the look on his face after he has cut paper (on the line) all by himself. He is so focused while working, then you can see the sense of accomplishment when he's done.

I could go on for a while about OT and how well he is doing, but I will just post some pictures.

The face "snarl" of concentration.

 

 Ms. JoAnn also uses Kinesio tape to help strengthen his arms and hands. You can see he chose pink for one arm and blue for the other arm... We call these his special spider man tape when his friends at school ask. Sometimes they are curious about the special stuff Will is working on.

Will was able to string seven beads on a pipe cleaner. A recent class art project was making a peace sign by stringing beads on a pipe cleaner. He seemed to be able to do the project even better than usual. His teachers also have reported an increase in his ability, desire and stamina to complete projects.

TED Talk and Parenting "Advice"

I'm very behind on blogging, but wanted to share two links today...

A TED talk by the director of the NIH, found this courtesy of UMDF. Interesting view and talk about drug cycles, how long it takes and the urgency and need.
http://www.ted.com/talks/francis_collins_we_need_better_drugs_now.html

"Today we know the molecular cause of 4,000 diseases, but treatments are available for only 250 of them. So what’s taking so long? Geneticist and physician Francis Collins explains why systematic drug discovery is imperative, even for rare and complex diseases, and offers a few solutions -- like teaching old drugs new tricks.
    
Francis Collins is the Director of the National Institutes of Health and was a key player in the completion of the Human Genome Project. Full bio » "

I did find it laughable when he was talking about whole genome sequencing and how it's gone from a 100,000 cost to a $10,000. So many families who are looking for answers for their child simply can't afford that, on top of medical bills and it's a battle to have insurance even consider it.

Somewhere about minute 8, the whole talk becomes clear as mud.

This other link is the exact opposite...
Parenting a Child with No Future

http://www.cnn.com/2013/03/27/living/parenting-emily-rapp/index.html?hpt=hp_c3

"What does being a mother mean when your baby is dying? How do you parent a child with no future? These questions needle the reader throughout Emily Rapp's moving and beautiful new book, "The Still Point of the Turning World."

 

Not a book I'm ready to handle reading yet, or maybe never, but it was so insightful and really grasped the way I feel. I remember I was at a dinner thing a few weeks ago around a big table of people I really like, two of my friends were talking about "THE" school, sports and other extracurricular endeavors etc for their totally awesome and cute kids. I found myself growing angry, then jealous and finally relieved that I have a kid I can just love without fear of how they will be "when they grow up." I can worry and live in the moment with Will.

 

I will deal with not whether or not Will is at THE best school, sports team or whatever, but rather enjoy every moment of where he is and whatever he is doing to the best of his ability. Don't get me wrong, I am totally going to set Will and any other kids we have up for success with THE right stuff for them, but the difference for me is I will not and cannot agonize over it. I just want to live in the moment of happiness with them. So much easier said than done, but this article really captured the essence of all those emotions.

 

Happy Easter. Sneak peak of all the blogging that I'm behind on... my little bunny at school during the Egg Hunt.

 

 

EPI-743 conference call scheduled

Conference Call with Edison for those who are interested in EPI-743 has been scheduled.
Friday, April 5
Noon eastern time/9 am Pacific

More details:
An update from Edison Pharma on the Development of the EPI-743

Join us for a very important discussion with leaders from Edison Pharma about the EPI-743
clinical trial for children with Leigh Syndrome.

Topics for this call include:

1. Status on EPI-743 clinical development
2. Status on EPI-743 US clinical trials
3. Status on EPI-743 European clinical trials

Q&A opportunity included in this important discussion. Parents, patients and families - please join us!


To join the online event-------------------------------------------------------
Go to : https://umdf.webex.com/umdf/onstage/g.php?d=667321101&t=a
Fill in your name/email
Click JOIN NOW

To hear the audio portion, do the following:
Call-in toll number (US/Canada):1-650-479-3207
Global call-in numbers:https://umdf.webex.com/umdf/globalcallin.php?serviceType=EC&ED=105951307&tollFree=0

Access code: 667 321 101
You will be given an “Attendee ID” to use and you will be placed into conference.

-------------------------------------------------------
To join the teleconference only
-------------------------------------------------------
To hear the audio portion, do the following:
Call-in toll number (US/Canada):1-650-479-3207
Global call-in numbers:https://umdf.webex.com/umdf/globalcallin.php?serviceType=EC&ED=105951307&tollFree=0
Access code: 667 321 101
You will be given an “Attendee ID” to use and you will be placed into conference.


Please send questions in advance to info@mitoaction.org or connect@umdf.org

Mighty Mito Mom's

Sometimes I am still amazed at this new network of people I have met and grown to care about - many without ever physically meeting.

One fellow mito mom and I started talking at least a year ago - comparing notes and supporting each other. Her daughter is a teenager. Recently this special person sent me the book - "Advice on Love and Life from Dear Sugar"

I was able to start reading it the other weekend during a college friends girls trip to the lake for some rest and relaxation (which I really enjoyed!) It's a collection of "dear Abby" type columns, but about some serious crazy stuff.

I realized I couldn't read it in one sitting, but rather have enjoyed reading one or two in the evening and thinking about what it means or how it could apply to our lives.

I highly recommend the book - no matter what your life challenge is, the auther Cheryl Strayed aka Sugar, has a sharp sense of humor, quick to the point and just has a great perspective.

Thank you to my east coast mito mom for your support and generosity - I will be paying it forward to another mighty mito mom just as soon as I'm done reading!

UMDF Houston Family Day at the Zoo

Anyone and everyone is welcome to join!

Join us for UMDF Houston Family Day at the Zoo!Sunday, March 24th, 2013
9:00 AM to 7:00 PM
Houston Zoo
6200 Hermann Park Drive
Houston, TX 77030

www.houstonzoo.com
Ticket Information
We are offering a limited number of free tickets to mito patients and caregivers. You may also purchase discounted tickets for other family and friends in advance by March 20. Go to http://secure.umdf.org/HoustonZooDay to RSVP and reserve/purchase tickets.

If you are member of the Houston Zoo, active military and their families, recieve WIC or in the Lone Star Access Program free tickets are available from the zoo. Tickets may be also purchased at the gate for regular price on the day of the event. For additional zoo ticket information click here.

We encourage everyone who is planning to attend to register so that we know how many people will attend. You can register as well as reserve/purchase tickets at http://secure.umdf.org/HoustonZooDay!

 We will meet at the front entrance of the zoo between 9 and 9:15 am for distribution of reserved tickets and then proceed toward the Children’s Zoo to meet at the Pavilion reserved for our use from 9:30 -11:30 AM. If you are unable to meet at the gate between 9:00 -9:15 AM, please email umdf.houston.connections@gmail.com to arrange for an alternate time. 

 Wheelchairs, scooters and wagons can be rented from guest services if needed. Families may bring a picnic lunch or purchase food at the zoo.

Hope you are able to join us for a fun day!

Documentary: Not a Statistic

http://www.wkrn.com/story/21636423/documentary-follows-brentwood-familys-health-woes

Documentary follows 3-year-old with mitochondrial disease
Posted: Mar 13, 2013 10:01 PM CDT
By Joe Avary, Video Journalist - bio | email

BRENTWOOD, Tenn. -
A Brentwood family hopes to bring awareness to a relatively unknown condition on the silver screen.
Michael and Ellen Hollis have a rambunctious 3-year-old named Hunt.

Hunt, however, isn't like most 3-year-olds. He has mitochondrial disease.

Mitochondria are responsible for creating the energy needed by the body to sustain life and support growth.

Mitochondrial disease is a genetic disorder where the mitochondria fail to produce enough energy for cell or organ function.

Commonly referred to as "mito," the disease primarily affects children and can cause several physical and developmental problems.

Hunt was diagnosed with "mito" in February 2011.

"When Hunt was diagnosed with mitochondrial disease, we had never heard of that before and we didn't know what that meant," said Ellen.

Shortly after diagnosis, the Hollis family was approached by University of Alabama film student Shelby Hadden. Hadden wanted to spotlight Hunt and his health.

"If we could do this documentary and raise awareness for mitochondrial disease and educate people about the disease, then it was definitely something we wanted to do," Ellen said.

Hadden spent weeks with the Hunt family, chronicling everything.

"She went to every therapy appointment, doctors visit. She even spent the night with us one night," Ellen recalled.

"I finished with about 37 hours of footage," Hadden said.

The footage became a 36 minute documentary film titled "Not a Statistic."

Hadden and the Hunt family hope that by exposing day-to-day living with Mitochondrial Disease, they can help others.

"This could be anybody's story that deals with anything that's difficult, but it's just what you do with that situation," said Ellen.

"Not a Statistic" premieres Thursday night at Franklin Theatre. The screening is sold out.

The trailer for the documentary can be viewed on Vimeo. http://vimeo.com/57018762

To learn more about Mitochondrial Disease, visit the United Mitochondrial Disease Foundation Web site.

__
What an amazing gift to this family. I sat here crying watching the trailer - I hope this helps spread more awareness and I hope to one day see the documentary.

Since Will was diagnosed with Leigh's I've tried to research the basic stuff - why, when, cure, when, why...

It seems like mitochondrial diseases are "all the rage" now and seem to have been for the past five years or so - the technology, science and interest in how our bodies mitochondria work or don't work have become "game changer" in the understanding of many diseases.

Sometimes I call it in my head an epidemic. It's not really by the definition of an epidemic, but it just feels that way after being thrust into this mito world. You hear and learn more and more about mito when we had never heard of it before.

I'm 32 and if you rewind to the HIV/AIDs epidemic, that happened in some of my very formative years. It was something I would hear about on the news - not the Internet, being online wasn't widespread to teenagers in the 80s and 90s. (we played outside haha)

It feels like the mitochondrial disease world is in it's infancy, just like HIV/AIDs 30+ years ago. Now, we see HIV/AIDs cured in a child - http://www.cnn.com/2013/03/03/health/hiv-toddler-cured/index.html?hpt=us_c2

After I saw that, my first thought was it's happening - a cure arrived for something that at one time, just a mere 30 years ago - was thought to be a death sentence.

I hope and pray that the mito research community is able to use the new science and technology out there to speed up this process and maybe, just maybe one day a cure will happen in the mito community.

Sorry for my rambling thoughts this Monday morning....

New Boots!

Ahh! After four pairs of leg braces, we finally have it figured out after a series of problems and issues with other orthodic companies and just in general frustrations.

Will got a new pair of "boots" last week and we haven't had any problems. I can't say enough about Hope Orthodics. They are warm, awesome people who have a background as physical therapists, so they are really trying to give Will the most stability without taking away and movement.

Playing in the "rodeo" room waiting for new boots!

The old boots.

The new boots! He picked the same pattern, just has brighter colors. They have a binder full of choices so I helped him narrow it down to two options - this one and a Longhorn pattern. Yes, I did offer the Aggie pattern as well, but since being brainwashed by his dad, we know that's not an option.

Playing on the play structure post-new boots. Seems to be going well.

I cleaned out Will's closet the other day and decided to walk down memory lane for a minute.

First pair (on the left): Started walking in these boots! A day we worked so so hard to get to and likely it was in part because Will was so determined to get around where he wanted to get to.  

Second pair: Will was doing so awesome we decided to experiment with a lower calf height and Will's first PT, Mr George who I still miss, got out his tool box and cut the back's down. Will thought it was awesome.

Third pair: Will did good with the lower boots, but got sick in Feb. 2012 and March 2012 and the back-to-back illnesses just didn't bode well for his body.

Fourth pair: So on to the fourth pair, we added a lot more stability and support for Will and that has seemed to be the best choice.

Fifth pair: So here we are now! Five pairs of boots since July 2011.

Luckily (??)  as you can see in the photo, we do not incorporate a lot of shoe options into Will's wardrobe. It seems to be easier for Will to only have to adjust to one shoe instead of a lot of different shoes. Plus, the boot only fits into certain ones with wide, big open inserts.

The day we got his current pair of shoes, we got great feedback from his teachers on how much easier it was to put them on. They are so easy, we just bought a new pair of his old shoes. So, new boots and "new" shoes.



Calling all Leigh's Families

If you read our blog, you likely know that Will is a Phase 1 participant of the Edison Pharmaceutical trial, EPI-743. We have seen real changes with this trial drug and are anxiously waiting for it to come to fruition for others.

If you have a clinical or genetic diagnosis of Leigh’s or even suspicion of having it, non-profit group MitoAction is asking all families with Leigh’s to contact them immediately. MitoAction’s Executive Director Cristy Balcells is compiling a list of all patients under the age of 18 who have a clinical AND/OR genetic diagnosis to send directly to Edison. Cristy has a daughter with Leighs and also is a nurse.

Even if your doctor has already screened you for the trial, submitted paperwork or if you have been rejected – please email Cristy at director@mitoaction.org or call 888-648-6228.

Right now, EPI-743 is in phase 2B of this trial. It’s an FDA required phase and it’s a double-blind, randomized trial. Meaning, some patients have a placebo and some have the real stuff. At the end of six months, everyone will receive the real deal regardless. This step is necessary in order to bring this drug to market. They need 30 children - now - and they only have 12.

Unfortunately, the requirements as agreed upon by the FDA require that the patients in this phase 2B study have a GENETIC diagnosis, not just clinical. This is a big difference. You can present clinical symptoms – lesions on the brain, ataxia, seizures etc. – but not have a confirmed genetic diagnosis. Our DNA remains smarter than we are at this time.

So, if you are clinically diagnosed only or if you have already been rejected from the trial, you might think why bother… well, what if we as parents can unite and show the FDA that there are hundreds of patients out there who would benefit and your child’s quality and longevity of life increases? What if we as parents can make real change for our kids by simply putting our name on a list? What if we will have the opportunity to participate, but since we aren’t a part of any database or registry we can’t be contacted directly? Let’s make sure that every family – everywhere – is known to Edison Pharma.

And lastly, there’s my huge selfish reason for asking our Mito friends to do this…. My son has benefited from this drug. We don’t know how little or how much, but he has. His verbal shot up, he hasn’t shown any new lesions on the brain since starting and his pigeon toed walking style went away. If this drug ceases to exist, then access for my son will too. If that happens, the little hope we have will quickly fall apart and we’re left with CoQ10. So yes, let me be transparent and say I have a vested interest in this, but so should ever Mito parent.

It’s our responsibility as the first generation of families to even have a clinical trial opportunity to do all we can to spread the word and help make this a success. The quicker we as parents can help make this drug trial a success the quicker the entire Mito community will be able to access the drug. Don’t underestimate the Mito Mom (and Dad!) network. Let’s unite, share the message and get access FOR ALL who might benefit from this drug.

My little Mito Warrior at the Stanford EPI-743 trial waiting for his first brain scan.

Chillin with dad post-relaxation meds.

Sleeping it off in recovery post-brain scan. Scary to see him like this, but worth every minute of worry.

Photos from the Past

I had a work issued blackberry for quite a while and I was downloading the photos and some were just had to be posted. Mostly for my own memories. This is barely a dent in the photos, so I'll have to do some more later.

Sleeping at school in Ms. Maria's class snuggling his girlfriends teddy bear.

WOW, look at that hair.

Before his first MRI

Busted up mouth. This was our worst injury to-date. Happy this was it.

Muscle biopsy

Chilling in the hospital not feeling to good.

Rudolph the red nosed hospital patient

Taking the rail off his crib.

At Stanford for EPI-743 trial

Lots of stickers from Stanford!

Peek-a-boo mommy

A Sweet Little Story

Just a random sweet story I have been wanting to share, but haven't quite remembered every time I sat down to work on the computer. That, and I'm procrastinating doing my taxes (don't get mad Neil). :-)

One of Neil's good friends from high school, groomsman in our wedding and lifelong friend Josh Sims and his family have been a huge supporter for Will. Even though they live in San Antonio, his wife Sheila checks in on us and often sends notes of encouragement and just genuine love.

Recently they were in town and their sweet daughter Abby walked up to me with a baggie filled with coins. She said this is for Will. Her mom explained that every time she made her bed, she was given a few coins for it and wanted to donate it to help Will. It was all I could do to not cry and take her home with me.

Sweet story and a sweet family. Thank you guys so much!

A picture of the duo from the 2012 Energy for Life Walk - sharing a ride.

 

Ribbon Cutting at Leigh's Clinic

We had our regular three month appointment with Dr. Koenig recently and when we arrived we had a big surprise awaiting us.

As we were getting Will's weight (38 pounds) height (3'5) and head circumference (big) we saw a big red ribbon in the hallway with a big red bow.

It was the official grand opening of the UT Mitochondrial Center of Excellence, Leighs Syndrome clinic and they asked Will to cut the ribbon! They had a photographer there, the schools media relations people and it was quite the scene. I was really sad that Neil couldn't come that morning because he got double booked for work and we assumed it was a "normal" appointment.

After they told us the only thing I could think was thank goodness I did my make up that morning. I was about to run out of the house in my grunge and am REALLY relieved I made an attempt to put myself together.

Joining us for the ribbon cutting was another awesome Leigh's family, their little boy is adorable and Will was pretty excited to see a "baby" - he thinks anyone younger than him is a baby.

Will got to use a really large pair of scissors to cut the ribbon and liked it so much he just kept on cutting the ribbon after the official ceremony. We got to take a piece of it home which I will have to figure something special to do with it.

https://med.uth.edu/wildart/leigh-syndrome-clinic


Melissa Knight, Shawn Huddleston, Lakeesha Minor, RN, Dr. Mary Kay Koenig, from left, Sandra Birkline kneeling, at left,with her son Kaden Huddleston and Lori Martin kneeling with her son Will Martin all gather as Will cuts the ribbon to the new Leigh Syndrome Clinic located within The University of Texas Mitochondrial Center of Excellence at the UT Professional Building in Houston, Texas.

As far as I know, this Leigh's clinic is the only clinic focusing on clinical research for Leigh's kiddos in the world.

One thing that I recently "realized" or finally clicked for me is that the UT Mitochondrial Center is NOT just Dr. Koenig - it's actually a center with many doctors. She is the neurologist leading the program, but really she has worked hard to engage an entire team of doctors who "get" mitochondrial disease and who are committed to learning more about it and treating patients with multiple problems. So instead of seeing a neurologist for a cardio problem or a GI problem, she can refer you to people in the system (records sharing) and these people actually get how the mitochondrial disease can affect your body. What a concept huh?

I also want to say thank you to some families who are going above and beyond to put together an event to help raise money for this non-profit. Thank you so much to Keith & Bridgette Bilski, Mitch & Joelle Derrick, Andre & Lauren Granello,  Peyton Jones, Andre & Bridgette Kostelnik, Walker & Sandra Molinare, Craig & Tahra Peterson, Mike & Emily Sperandio, and Ken & Janae Tsai. We are so honored that you are doing all that you're doing. Thank you.

Stay tuned for more on this front!

A minor update

I'm happy to report that we do not have much to report on...

Will has been doing good health wise, so we're very happy about that.

The SubQIVG continues every week and he usually manages it just fine. I'm sure having adult friends come over for the "infusion party" and getting to picnic in the living room is helpful.

We're starting OT and Speech for Will in the next few weeks. We've already done some evals, just waiting for signatures, approvals etc. to come through from doctors and insurance companies. I'm really excited to see where this heads. Preparing him for the next school step.

The other "big" thing on my mind right now and that I'm starting to research is the - what's next for Will question - as it relates to school.

Since he was diagnosed, I've had a really hard time seeing him past the age of five. So much so that I just didn't really even think about it nor expect us to get there, or be where we're at.

Well, the booger's going to turn 4 in April and that gives me about a year to figure this out (and barely a month to figure this birthday party thing out). Sounds like plenty of time, but when you add in life, work, other Will stuff - well, I need to start now.

I attended a really interesting seminar presented by The Arc of Greater Houston this week called Special Education 101. They walked us through the legal options a child is required to receive if part of the public school system. It really helped give me perspective of what a private versus public school is required to offer. Essentially private schools don't have to do anything. I called had called a private school that I liked a lot, but the feedback I got back after speaking with two people is that essentially they can't even remember the last time a special needs kid attended their school. Hmfp. I'm still going to do a school visit because I really like them, but I have a better perspective going into this now.

The really complicated part is we first have to decide public or private. Then if we pick public, our goal is to move to a different house with a different school district. So that also adds in a choice of moving... AG! I would love to stay in our house for a longer time, but I do not want to start this special education process all over again with another school, school district, principal, etc. Not to be whiney, but it's going to be a lot of work, a lot of bootie kissing and most importantly a stressor on Will - none of which I want.

Just a lot of things to consider, research and factor in to our ultimate goal of giving Will a safe and secure environment to be successful in.

Meanwhile, he continues to thrive in the environment he is in right now and I don't even want to think about him leaving.

Will in gymnastics... He just finished his turn and decided to be like Mr. Glass. He literally knelt down just like him and started shaking his head and repeating what Mr. Glass was saying. I almost fell out of my little chair laughing.

 

The weather has been hit and miss lately, but when it's a hit we hit the sidewalk for sidewalk chalk, bubbles and yelling hi to everyone on the street.

Happy Valentine's Day

My mom brainwashed my child for Valentine's Day this year. Neither Neil or I could convince Will to make us his Valentine. Only "my DeeDee" was the automatic response. I even tried to bribe him with dessert.

I never imagined my life could be this full of love, but it is. We celebrated the Hallmark made holiday with our weekly infusion party at the house and a picnic in the living room. And ladies, Dr. Love is 'da house in case you are still looking for a Valentine.

After we got home from school and his Valentine's Day party.

The infusion party was extra special because we went through all of Will's Valentine's Day loot. But he is not nearly as happy as he was when he got home.

Energy For Life walk 2013

Thank you to all our family and friends who joined us for the United Mitochondrial Disease Foundations "Energy for Life walk" in downtown Houston. The weather was awesome!

Will had quite the day, starting with a birthday party for his long-time girlfriend "Ella-Bella"

It was a dress up themed party, so Will wore his "Will Superhero" cape!

Then we did the Energy for Life walk....

My very own super hero, my little buddy Will.

Then he partied at Berryhill like every good almost four year old boy, eating a lot of sugar and throwing pennies into the wishing pond. He was quite the little mooch for coins too. He asked everyone in our group for money.

Somehow I managed to take NO pictures at Berryhill, so if anyone has some, please send them my way.

He ate so much cookie cake and survived without a nap that when we got home he apparently needed to get some of that out of his system and had a little puke. That ended the party and we did bath and bedtime pretty dang quick.

A special thank you to all our friends who came in from out of town. Not only was it good to see you, but it really means a lot to us!

I also wanted to say a special thank you to Emily Parson's. She joined this crazy EFL walk planning group and manned the merchandise tent. It was so meaningful to see her and her sweet son and husband out there helping the planning committee. Thank you Emily!!

Onward to 2014 Energy for Life walk!

Thanks to our EFL team members

Just wanted to say thank you to all those who have signed up to walk with us on Saturday, Feb 2 at 1 p.m. at Sam Houston Park in downtown. While we're not asking for fundraising this year, you are welcome to come and celebrate Will and help spread awareness of mitochondrial diseases!

Maria Contreras
Megan Garza
The Gell’s
Hank & Diane Goggan
Janet Gonzalez
The Hayes'
Peyton & Murphy Jones
The Kotzebue’s
Ed & Pat Martin
Jason Parcell
Ry Pickard
Monica Sanchez
The Sims’
The Stewart’s
Jeanette Stovall

I know many people have said they are coming, but please sign up on our team site, Where' There's a Will There's a Way. Onsite registration is available, but we have a limited number of volunteers and it's so much easier to sign the waiver online.

Happy Energy For Life Walk 2013!

We'll be at Berryhill in the Heights following the walk if you'd like to join us for a margarita!

The Bachelor Features Mito

Pathetic admission, I have watched nearly every season of The Bachelor and Bachelorette.

Last night's episode is awaiting my viewing on the DVR. My better half and I tend to indulge ourselves in this show, not for the romantic pursuit of love, but the ridiculous behavior of grown women. What can I say, we're both reality show junkies.

Apparently last night's show featured two special guests with mitochondrial disease.

Here are the two most informative links I found about what happened. I can't wait to watch it!

http://www.starlight.org/thebachelor/

http://www.examiner.com/article/bachelor-sean-lowe-and-starlight-children-s-foundation-charity-shine

And for all the little ladies out there, sorry, this bachelor is all mine!

A little update

A little update...

Monday...
I knew I was counting my chickens too quickly. Since we started on IVG in late October, Will literally hasn't had a booger.

Well, last week that all changed. Likely we just overdid it that weekend with birthday parties and visiting other friends. Alas, Monday night the snot arrived and during the week so did a very low grade fever, more snot and a puffy looking little guy.

We did his weekly IVG infusion on Wed evening and that actually seemed to help. Now, into this week he is almost back to no snot. I mean I should be thrilled that a) all we're dealing with is snot and b) it's been almost two months since he's dealt with snot. So, I guess I'll call that a win.

New Boots:
We also made a visit to the orthopedics place last week to get Will measured for some new leg braces. If you are ever in need of orthopedics, I highly recommend Hope Orthodics - ask for Jason. It's up near The Woodlands, but worth the drive. He is a former physical therapist so he gets it.

Will "Mr. Curious" was all about helping him make the mold/cast for his new boots and Mr. Jason invited Will to the workshop to see all the tools and how they make the boots. Will was in hog heaven. He's really into tools right now. Every night we read "Old McDonald's Workshop" and he knows all the names of the tools and what you can do with them, sounds etc.

So needless to say, he was excited to see the workshop. The guys back there were showing him all the equipment and Will was naming it all. When they got to the oven the guys jokingly told Will that's where they make the pizzas. Will kind of looked at them like, I don't believe you, but ok.

 

I finally downloaded videos from our video camera we got in like September... If this doesn't work, bear with me. This was a clip from Christmas Day.

 

Welcome to 2013

I happily threw 2011 out the window. I can't say the same about 2012. Looking back, it wasn't a terrible year, it wasn't great and everything didn't work out as WE planned, but ultimately, it's not our choice.

So, welcome 2013. What do you have in store for us? Might I make two requests?
- A cure
- A baby (or two).

That is all. I don't have high expectations of 2013 do I? (insert maniacal laugh)

The past two months, I've been focusing a lot of me. Selfish sounding yes, but necessary. I feel like we're at a place with Will that's steady. We've fallen into a new crazy world and it's taken me a long time to sort it out but, (knock on wood) I think we might have figured some of it out. However, along the way, I am pretty sure I lost a little bit of me.

I started back up on an anti-depressant after we found out we weren't pregnant in November. It had to happen and it's changed my attitude for the better. I don't get as overwhelmed, sad or anxious - though I still have my days. I bought new skin care products, got a facial, some new make up. I've been trying to grow my very chewed up fingernails out and have even succeeded in getting a manicure twice. Neil and I finally got serious about getting all this weight off and it's working.

I now know what it feels like to get to a "new normal" and am working to make it work for our family. I think my job change significantly helped ease a lot of the craziness.

2013, we're starting strong. Please don't fail me.

I'm a big fan of Dear Abby and my mom mentioned her Jan. 1 column was exceptional. I couldn't agree more...

The original credo of Al-Anon:
JUST FOR TODAY, I will live through this day only. I will not brood about yesterday or obsess about tomorrow. I will not set far-reaching goals or try to overcome all of my problems at once.I know that I can do something for 24 hours that would overwhelm me if I had to keep it up for a lifetime.

JUST FOR TODAY, I will be happy. I will not dwell on thoughts that depress me. If my mind fills with clouds, I will chase them away and fill it with sunshine.

JUST FOR TODAY, I will accept what is. I will face reality. I will correct those things that I can correct and accept those I cannot.

JUST FOR TODAY, I will improve my mind. I will read something that requires effort, thought and concentration. I will not be a mental loafer.

JUST FOR TODAY, I will make a conscious effort to be agreeable. I will be kind and courteous to those who cross my path, and I'll not speak ill of others. I will improve my appearance, speak softly, and not interrupt when someone else is talking. Just for today, I will refrain from improving anybody but myself.

JUST FOR TODAY, I will do something positive to improve my health. If I'm a smoker, I'll quit. If I'm overweight, I will eat healthfully -- if only for today. And not only that, I will get off the couch and take a brisk walk, even if it's only around the block.

JUST FOR TODAY, I will gather the courage to do what is right and take the responsibility for my own actions.

And if I forget all that, I have my little buddy and his flashlight to guide be back to what is pure.

Energy for Life walk - clarification

Just wanted to clarify... we are still doing the walk and we'd love for you to join us as a participant if you would like to.

We're just simply asking for the money you might have given or asked your friends to give to a mito organization, to give to the Leigh's clinic program.

For more details on where and how to donate, go here: http://martinfamilyandmito.blogspot.com/p/donations.html

To join our UMDF Energy for Life walk team, go here: http://www.energyforlifewalk.org/faf/search/searchTeamPart.asp?ievent=1040611&lis=1&kntae1040611=68D7AD24A1E445F28A0C54350B79250F&team=5316747
To join the team, you are not required to give any money. If you have already donated, the money will be put to good use! So thank you.

We will be gathering at Berryhill in the Heights after the walk. If you can't join us for the walk, please feel free to come drink margaritas with us, we'll be there from about 3 - 6 p.m.

Go team Where There's a Will, There's a Way! Go UT Mitochondrial Disease Leigh's Clinic program! So much good mo-jo in the mito community right now.

Shout out to Ryann Jarrad at Randalls for coordinating a special water bottle and food donation to the Energy for Life Walk!