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!