Get Pampered

A friend of mine from college offered to host a virtual online Pampered Chef party to help raise money for the UT Mitochondrial Center of Excellence, Leigh's clinic - where Will receives his care.

The time is now my friends, 25 percent of all proceeds will go to the clinic. The online party is open today till Monday, July 29. Lisa, my friend, is even donating her commission of this towards the clinic.

To get started, simply go to this link: http://new.pamperedchef.com/pws/lisacochran/guest-landing/8836664933531 then create your profile and start adding items to your cart.

I am about to purchase the peanut chopper (could have used that this week for the dessert I made for a girls dinner) and a stay cool outdoor cooling plate for fruits and veggies. I thought it was so cool I put a photo of it below.

 

So, do your Christmas shopping early this year, find cute back to school stuff for the kids and thank you for considering this as a way to support the Leigh's clinic and all the kiddos who receive care.

Post-vacation scramble

Ahh! Neil and I arrived home last night after a wonderful beach vacation, just the two of us. It really reminded me how important it is for just the two of us to spend time together, even though we miss Will like crazy and I feel guilty about leaving him. I think every parent needs a break every once in a while as I think it makes me a better parent  - or at least I have had a lot more patience today. Our flight was delayed by almost two hours back into Houston because of rain, but thankfully Will was all taken care of and I had a good book.

This morning, we woke up to find a leak coming out of our attic. After scrambling around finding buckets and a plumber the leak is almost repaired. Now, on to the sheetrock. I couldn't help but laugh - it's a good think I was so relaxed from vacation otherwise I might have flipped a gasket.

Our view of the ocean... ahhh!

 

Will not missing us in the slightest - fishing with my sister and her boyfriend Tom. They didn't catch anything, but apparently Will enjoys a speedy boat ride.

 

Welcome home! Thankfully this is in our guest room and not in our bedroom or Will's!

Two Years Ago

Something magical happened this morning! On the two year anniversary of our diagnosis, a story was posted by reporter Sydney Lupkin on ABCnews.com about the possibility of removing bad mtDNA from an egg and replacing it with donor mitochondria. I know this topic has a lot of diverse and dramatic point of views, but my hope is that this will help push mitochondria disease research even further. http://abcnews.go.com/Health/benefit-person-ivf/story?id=19573147#.UdbZBn8o5jp

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

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

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

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

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

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

Click the link above to continue reading...


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

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

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

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

I've lost touch with friends because of life, chosen to cut free from friends who are not supportive and gained a lot of new friends. Thank you to our family, friends, medical community and all you blog stalkers for your support the past two years. We are surrounded by a team of wonderful and amazing people who lift Will up every day. I will forever be eternally grateful for the massive outpouring of support our family has received.


http://www.ikedaquotes.org/health-illness/health-illness203?quotes_start=7
Health is not simply the absence of illness. Real health is the will to overcome every form of adversity and use even the worst of circumstances as a springboard for new growth and development. Simply put, the essence of health is the constant renewal and rejuvenation of life.

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

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

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

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

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

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

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

Coming January 2014...

 

 

That's right, our little super hero is going to be a big brother in January 2014!

 

What I might consider my worst kept secret, I am pregnant! I think I have just been so excited about it that I just want to share - especially as our family and some friends knew we were working on this. And, as I saw people I just wanted to share some happy news.  

 

12 weeks along and have made it through the first trimester with minimal problems. Headaches, minor nausea and being tired are my only complaints. I'm looking forward to that second trimester energy boost in the coming week.

 

It's been a really long, like two year long, process to get pregnant. Since we know Will's genetic mutation causing Leigh's Syndrome was from my egg (mitochondrial DNA), we decided to use an egg donor to eliminate the extremely high likelihood that we would have another child with Leigh's.

 

Our first donor did not work out. We had two failed attempts at pregnancy. That was a very long, rough emotional roller coaster. After we used all our embryos up from the first donor, we had to start all over again and this time decided to use a proven donor - meaning she has previously been successful at helping parents get pregnant.

 

We implanted two embryos in April and found out nine short days later that we were pregnant. After a lot more blood work, ultrasounds and obsessive worry that I would miscarry we found out we were pregnant with a single. While twins would have been great, we are relieved to have one bun in the oven. Twins, plus Will sounds like it would be more like five kids!

 

Yes, we're finding out the sex. :-) I love to plan ahead and if it ends up being a girl.... well I can't have her wearing trucks and cowboys! I will say no to the bows though!

 

Will knows I "have a baby in my belly" because I am not allowed to lift him. Knowing from day one that you might possibly be pregnant and having a procedure done really hones in on what's "ok" and not ok during pregnancy. He has been really sweet about it and says he wants a brother - and he says it with authority which I think is hilarious.

 

One day I'll post on some of the emotional aspects of being pregnant, using an egg donor and giving Will a sibling it's A LOT to take in and deal with, but for now we are just really really happy. I really want to thank our families and friends for being so supportive of our choice to use an egg donor. It means a lot to us and the fact that we get to give Will this experience brings me to tears.

 

 

In this view of the ultrasound, the head is on top and you can kind of see an arm and leg in there!

(I got tired of trying to get Blogger to rotate the photo...)

Baby is now two inches long and weighs about an ounce. At least according to BabyCenter.com.

 



Needed: Healthy Adults and Children for MELAS Clinical Trial in Houston

During the UMDF conference (which I am way behind on posting about) there was a presentation on clinical trials. It's been a big topic of discussion in the mito community and one of the biggest points that was made by all those who presented is the need for patients of all ages - both healthy and diagnosed - to participate.
 
One doctor in particular, Dr. Fernando Scaglia, at Texas Children's Hospital has a few research trials on MELAS. Mitochondrial Myopathy (muscle weakness), Encephalopathy (brain and central nervous system disease), Lactic Acidosis (buildup of a cell waste product), and Stroke-like Episodes (partial paralysis, partial vision loss, or other neurological abnormalities). MELAS is a progressive neurodegenerative disorder with typical onset between the ages of 2 and 15, although it may occur in infancy or as late as adulthood. Initial symptoms may include stroke-like episodes, seizures, migraine headaches, and recurrent vomiting.

The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer. Death may come as a result of general body wasting due to progressive dementia and muscle weakness, or complications from other affected organs such as heart or kidneys. Here is more info on MELAS from the UMDF.

Dr. Scaglia is doing a clinical trial to see if a new treatment would be viable for MELAS patients. Here is a link to ClinicalTrials.gov with details on the trial.
 
What is the purpose of this study? The purpose of this study is to measure nitric oxide in individuals with MELAS syndrome and see if giving arginine or citrulline will increase the formation of nitric oxide. MELAS syndrome is a mitochondrial disease; patients with this disease have muscle weakness and often develop brain strokes, where blood does not flow normally to different parts of the brain. It is believed that these strokes could be due to decreased production of nitric oxide in individuals with MELAS.

 

Nitric oxide is a naturally occurring compound in the human body. It is also made from other common compounds, arginine and citrulline, that are normally found in our bodies. Nitric oxide is thought to be helpful in improving blood vessel function and preventing strokes. Therefore, if arginine and/or citrulline are shown to increase the formation of nitric oxide, they could be used to prevent or treat the strokes in patients with MELAS syndrome.

His team is in need of HEALTHY kids to participate as control patients. Here is some information:

Children (healthy children 3-18 years old) will be admitted once to the Clinical Research Center (CRC) at Texas Children's Hospital in the Texas Medical Center. They will stay for 3 days, during which a special diet will be provided. Nitric Oxide (NO) production will be measured by a safe stable isotopes infusion technique on day 3. This involves placing small tubes in veins (IV catheter), blood sampling from the IV catheters, and injecting a harmless stable isotope. Stable isotopes are forms of normal compounds that can be measured very accurately but not radioactive. There are no known risks to giving them and they are already a part of your body in small amounts. The children will be able to play and do their regular activities on days 1 and 2 with the exception of being on a low protein diet. If anyone chooses to do this, I will come visit and bring some fun stuff that tends to occupy Will in the hospital.

So essentially, your child will eat a good, controlled diet, stay in the fabulous accommodations of Texas Children's, get some IVs done and blood work, and the best part is you could help further develop or find a treatment or cure for not just MELAS kids, but others with mitochondrial disease.
 
Obviously if you are considering this, you would likely have a lot of questions that I won't be able to answer. If you are interested, even slightly, please contact Sirisak Chanprasert chanpras@bcm.edu, Lisa Emrick emrick@bcm.edu or Fernando Scaglia fscaglia@bcm.edu,

I realize that likely no one will want to give up their vacation time or put their child through a not necessary hospital stay, but I want to point back to the fact that if people do not ever participate in clinical trials, we'll never have viable treatments or a cure. Staying in a hospital is never our first choice, having spent too much time in hospitals, I know this is a huge sacrifice. So thank you in advance for considering.

Don't worry healthy adults, you too could participate in a clinical trial! Glucose kinetics in subjects with MELAS syndrome. Here is some more information:
 

Introduction

Baylor College of Medicine and Texas Children’s Hospital are recruiting ADULT subjects with MELAS syndrome for a clinical study. Mitochondria are cell structures that provide energy for most cells of the body. MELAS syndrome is a mitochondrial disease; patients with this disease have muscle weakness and often develop brain strokes. About one third of individuals with MELAS syndrome also have diabetes. Diabetes develops when the body cannot digest sugar (glucose) appropriately. It is not known why people who have MELAS syndrome develop diabetes.

What is the purpose of this study?

The purpose of this study is to see how the body handles sugar by measuring the amount of sugar that the body produces and breaks down (glucose metabolism). The results from people who have MELAS syndrome will be compared to those from people who do not have MELAS syndrome. By doing this comparison we may find that people with MELAS syndrome handle sugar differently, which would explain why many develop diabetes. A better understanding of how diabetes occurs in people who have MELAS syndrome can give more information about diabetes and help in choosing the right treatment in people with MELAS syndrome.

What does the study involve?
Healthy controls will be admitted once to the General Clinical Research Center (GCRC) at Texas Children's Hospital and stay for two days. Glucose metabolism will be measured by a safe stable isotope infusion technique that involves placing small tubes in veins (IV catheter), blood sampling, and injecting a harmless stable isotope. Stable isotopes are forms of normal compounds that can be measured very accurately but not radioactive and there are no known risks to giving them; they are already part of your body in small amounts.  

Who can participate in the study?

Healthy adults ages 18-64 who do not have a diagnosis of Diabetes Mellitus.

 

Subjects interested in participation or getting more information can contact Dr. Lisa Emrick at email: emrick@bcm.edu, office phone: 832-822-4289.

If you made it all the way through this post, thank you. I know it's a lot of information and words may be unfamiliar. I can say from our experiences being inpatient that besides worrying about Will, the experience is not terrible. Thank you so much for considering helping out other mito kids!

Waiting for new tires at Discount Tire... at least a hospital has a comfortable chair instead of recycled tires!

 

Stephen Marriott

Interesting post by Bill Marriott about his son, Stephen, who passed away recently after battling mitochondrial disease. Did you know that the UMDF conferences are held at Marriott hotels?

http://www.huffingtonpost.com/bill-marriott/my-hero-stephen_b_3496745.html

My Hero, Stephen
By: Bill Marriott



No parent should have to see their child die, and those who do are members of a club that no one wants to belong to. Donna and I lost our dear son, Stephen, this week at the age of 54. He had been diagnosed in his teens with a rare mitochondrial disease that slowly cost him his eyesight, his hearing, his strength, and finally, his life. Yet during all those decades since his diagnosis, we remained hopeful that the doctors would find a cure.

Stephen is one of my great heroes, because he never allowed his disease to get in the way of his ambition or his passions. He went to Brigham Young University, then got his master's degree in business administration at Arizona State University in Phoenix. He married Julie, the girl of his dreams, and they had three gorgeous children and five beautiful grandchildren.

He worked his way up in our company from summer jobs in high school, starting as a cook at the Bethesda, Md., Roy Rogers Restaurant, to his last position as Executive Vice President for Culture at Marriott International. Stephen led our Marriott Worldwide Business Councils, and was responsible for perpetuating the company's core values and culture.

He was a terrific inspiration to all of us every day as he came to work to champion the values that my parents established when they opened their root beer stand in Washington in 1927. He was completely convinced that the company culture was our greatest competitive advantage with customers and associates. He was passionate about the core values of putting people first and providing opportunities for everyone in the company.

Growing up, no job was too small for Stephen, who worked on the front desk, in housekeeping, banquets, marketing, sales, accounting; and he later ran one of our hotels in Maryland. I remember how proud he was when he became the general manager of the Bethesda Marriott in 1991.
In 2004, he received the company's highest honor, the J. Willard Marriott Award of Excellence. And last month, he received the top award for the Marriott Worldwide Business Councils, renamed the Stephen G. Marriott Leadership Award.

Stephen was also active in his community, serving on the Washington Council of the Boy Scouts of America and various boards representing people with disabilities, including the American Foundation for the Blind, which named him a recipient of the Helen Keller Achievement Award in 2008. He served on the board of the American Speech, Hearing and Language Association Foundation and the National Institutes of Deafness and Communication Disorders. He also served on family foundations, including the J. Willard and Alice S. Marriott Foundation and the Marriott Foundation for People With Disabilities.

Stephen also supported his college through the BYU Marriott School of Management Alumni Board and the BYU Management Society, Washington, D.C., Chapter.

He was an active member of The Church of Jesus Christ of Latter-day Saints. When he was 19, he served a mission for two years in British Columbia, and held a number of church positions throughout his life. I know how much his faith fortified him during his illness.

He was a master teacher. He taught sales school for the company for many years and Sunday school for at least 15 years. I recall his writing the names on the blackboard of the 12 Tribes of Israel in a Sunday school lesson. He wrote them down from memory. I asked him, "How in the world can you remember all those names?" He said he'd learned them in high school at St. Albans and always remembered them.

Donna and I are so proud of him, as are his brothers, John and David, and his sister, Debbie. We are so grateful to Julie, who has given him such wonderful support for 32 years. And we're proud of their three wonderful children, Jennifer, Ashley and Blake, and five grandchildren. We know Stephen has earned a special spot in heaven, and we will miss him deeply.
This post first appeared on MarriottOnTheMove.com.

Sweet Jane

I attended the UMDF 2013 Symposium this weekend in Newport Beach, California - beautiful spot. I'll post on all the various details in the coming days, but one person left a huge impact on me and her name is Jane.

On Friday evening, they do an awards dinner for all the research grants and to honor the mito community in general. I was sitting with some new and old friends - all Leigh's families incidentally - and a woman snuck in a few minutes late and asked to join our table. We all readily agreed.

As we got to talking about mito, our kids etc. we asked the newcomer if she had an affected family member etc. She did, her daughter Jane. We asked her to tell us a little bit about her story and she said that Jane passed away about two years ago from mito, but they didn't know the diagnosis of mito till the very end. Jane's mom came to the conference to learn about the disease that killed her daughter.

I sat there dumbstruck, heartbroken and unsure about where to go from there. I think we all were. What an amazing woman to come to learn about something that doesn't necessarily affect her daily life. To put yourself through the emotional, physical, mental and social pain of talking about your daughter, learning more about mito and simply just being there.

I realized a lot in those few minutes of sitting with Jane's mom. I realized that I had no idea how to deal with death, what to say, how to act and then I realized one day that will be me - Jane's mom. Sitting at a table and explaining how your child passed away to total strangers and then dealing with the unsure faces and reactions. I also realized that people probably feel the way I did after I explain to them Will's diagnosis.

As the evening went by we learned more about Jane, saw pictures - of a sweet sweet girl with a short bob haircut and glasses. Of all the moments I've had the past few days, this was the most impactful moment and I will carry it with me for a long time. Sweet Jane, as I called her only in my head, Sweet Jane was still living on through this amazing woman - her mom.

The paradox of a woman who lost her child sitting with us at the table - all parents who will lose their child. I wanted to reach out and hug this woman for sharing her story with us, for showing us pictures and teaching me how to be graceful.

The night ended and Jane's mom retreated back to her room while we stayed behind to visit etc. I wish I would have given Jane's mom a warm hug, what an amazing woman.

Thank you Sweet Jane for teaching us all a lesson from above - the art of grace, wisdom and love.

No News is Good News

Hard to believe I've been MIA for a month now... We've just been busy!All is well, which is a good thing. Quick update, mostly for my records, and two quick stories. Will is overall doing good.

Physical: PT is going well. We're working on taking a step and then throwing a ball, same thing for kicking. That takes a lot of coordination, but he's getting every 2 out of 10 tries really well. He loves anything to do with sports and balls so he is at least enjoying himself.

Occupational therapy: This has been so rewarding for me to watch. He's darn near a master with the scissors. He cut a wavy line on a large thing piece of paper this week with NO help at all. He moved his hand so well up the paper to keep it steady and he cut on the line. His palm and finger strength is improving. Ms. Joann, our OT, has a wooden hot air balloon with holes around the top. He is able to "sew" a shoelace through the holes, going up and down all by himself too. This is not easy work for him, but he is so focused on getting it.

Speech: God bless our speech therapist, Ms. Cassie. She has the patience of a saint. There are moments when I have to space out during speech. Will has conquered "F" - fence, fair and his favorite, fart. I try to discourage that one. We've almost conquered "Ch" - chin, chair, children. "S" is proving to be the most difficult and we're going to add on "L" soon while continuing to work on "S" - we were talking about his ability to get certain letter sounds and that his real problem is fatigue. His mouth muscles are developing but it's not without a lot of work.

He has started a random stutter. He did this a few months ago, so I'm not nearly as worried. I don't think it's speech related, just some sort of weird growth "tick" he has. He also is driving us both nuts with putting his fingers in his mouth and picking his lip. I mean NUTS. I think I say "Fingers" every two minutes.

The subQ IVG continues to go well. He has stayed healthy which I am so thankful for. It's getting "tiresome" to do these infusions every week and sit still for almost two hours, but luckily he usually seems to be okay with it.

The Houston, Texas, heat and humidity is here. If anyone has suggestions for things to do inside places around Houston let me know. I can't stay inside the house the whole summer with him, but we're also not going to go to the Zoo! I also have germ problems with places such as the Children's Museum and indoor bounce places. I have a proven theory that when kids are home sick, but not sick enough to sleep that parents take them to the Children's Museum. I have actually had parents tell me they do that. So, not happening here. Not even subQ IVG will get me on that one.

One activity we did this past weekend was a fun trip to Academy. Who knew you could spend nearly two hours going up and down every aisle. We'll have to hit up Gander Mountain or Bass Pro Shops next. Of course, we had to wear "cowboy gear" - that consists of any pair of shorts with belt loops, a collard shirt and a belt with his shirt tucked in.

This one was for Neil, who is a Longhorn and has brainwashed Will into loving the horns too.

Fishing

Sword fighting, ahem, I mean fishing

Relaxing. I couldn't get my camera out quick enough. He had laid down and put his arms up under his head.

 

 

Random story...

Apparently, Will hates stuffed animals. His PT, Ms. Lauri, gave him a stuffed koala bear for his birthday. He pulled the tissue paper out of the bag, looked inside and started to freak. We had to put the bag and animal out on the front porch in order to continue with therapy.

 

We went to the mall one weekend so I could find a dress for a wedding. Neil took Will to look at build-a-bear while I zoomed through a store. Will again, shrieked and freaked at the stuffed animals. One caught him by surprise and that put him off balance and he almost fell into many things and people, luckily Neil caught him.

 

So, when in doubt, NEVER bring stuff animals over to play with Will. He might kick you and the animal out.

 

I am going to the UMDF 2013 Conference this week. I'm looking forward to connecting with many online mito friends in person and learning about the latest and greatest in mito-land... a land that's always changing. I'll probably do a long post about whatever I learn when I get back - long boring ones :-)

Happy Mother's Day

Happy belated Mother's Day, especially to my mom. She's been a rock for me.

Yesterday I was riding back from my parents house after celebrating mother's day with my mom and our family; for a minute I almost started crying because I was just so happy. It was a great day. The weather was decent and Will loved every minute of playing outside with his cousins.

We played basketball, raced cars, climbed on the swing set, played with tools and just enjoyed making each other laugh. I am just to thankful to be where we are right now. We've had some "banner moments" the past few weeks with work, Will and our lives. I am so hopeful for the future right now.

I thought I had given up a long time ago on putting expectations on Will. I still have for the most part, but the kid keeps exceeding my expectations every day. His little hands are getting stronger to cut, work and manipulate items for fine motor skills. And while he doesn't appear to be a huge fan of speech therapy he's doing pretty awesome there. Though as he said in today's session, "This is taking sooo long."

So for today and as many more days as I can muster, I will refuse to think of what will happen when he can't, but focus on all the amazing things he is accomplishing today.

I am honored to be his mom, humbled that I was given this amazing person and incredibly proud of my son, my hero and my little teddy bear Will.

My mother's day flowers and vase. One hand was orange of course - his favorite color these days. I also got a spa day from Neil - one smart husband he is!

Playing with trains over the weekend. I think he enjoyed making them crash into each other the most.

Refusing to take a photo together at the Astros game.

People Against Leigh's Syndrome

I am really excited to write this post today. A group of our friends came together to form a non-profit called People Against Leigh's Syndrome or PALS in an effort to further push research efforts for effective treatments and hopefully a cure for Leigh's Syndrome.

When they first asked us if we would be on board, I was overwhelmed with emotion - happiness, joy, humbled, nervous, but mostly just thankful. Thankful that we have people in our lives that care so much about our little guy to give their hearts, money and time to help him. I don't think I have ever experienced anything quite like it.

After a few months of really hard work, we have officially formed the entity, People Against Leigh's Syndrome, are putting together a fundraising event and worked through all the other details that come with starting a non-profit.

Debuting the logo, designed by the masterful Jimmy Egeland. Thank you Jimmy!

Debuting the website: www.PeopleAgainstLeighs.org - a huge thank you to Andy Dyer!

And most of all, a Gigantic Thank you to the following people who have made this happen:

Bridgette & Keith Bilski
Joelle & Mitch Derrick
Lauren & Andre Granello
Peyton Jones
Bridget & Andre Kostelnik
Sandra & Walker Molinare
Tahra & Craig Peterson
Emily & Mike Sperandio
Janae & Ken Tsai

And a special thanks to some other Leigh's families who have agreed to help kickoff this organization and share their story too.
Elizabeth & Ryan Baker
Sandra Birkaline & Shawn Huddleston
Laura and Paul Vanchiere

If you want to get involved, volunteer, donate or learn more please send an email to director@PeopleAgainstLeighs.org. We can always use help to secure auction items, inkind contributions such as food, giveaways or simply your time to help stuff envelopes for example.

I can't tell you how much this means to us. This journey, this hellish, unbelievable, tcrazy journey, keeps me on my toes and humbles me to the ground in ways I never thought possible.

Thank you from the bottom of our hearts to the founding members of PALS - they are our friends and our heros.

Four Year's Old!

Will hit the big 4 years old on Wednesday! It's hard to believe he is getting so old, big and independent. He cracks me up every day and I treasure each moment I have with him. Even when he is picking his nose and lip. (GROSS!)

Right now some of Will's favorite things are COWBOYS!, Barney (still...), any sort of sporting thing, the Longhorns, construction / yard stuff like gardening or mowing and anything that involves using scissors. He still is my big helper around the house, always trying to help with the dishes or chores. He has perfected folding a washcloth.

Where has the time gone? I just want to put all of us in a bubble and time warp to this place and stay here.

We celebrated his birthday with a cowboy themed party. Note, according to Will if you even put on a belt even with gym shorts you are officially a cowboy. I don't fight that notion except on PT or gymnastic days.

One of his awesome teachers at school, Ms. Maria, and her mom turned Will's cooling vest into a cowboy vest. Will typically has a major fit when he has to wear it, so hopefully now he will enjoy it more. I have my serious doubts though, he just doesn't like it.4

Every cowboy needs a horse

And a petting zoo. He opted to just ride the horse, A LOT, and stay out of the petting zoo. Not a fan based on some of the shrieking I heard.

Cowboy cake and cupcakes, thanks again to my mom and sister's for helping me make and bake all these goodies.

Singing Happy Birthday!

Did I mention he loved the pony?

 

He dove right into his gifts after the party and promptly put on his new Astro's hat.

Fast forward to his birthDAY and he brought special snack at school. I'd say he enjoyed that chocolate cake.

Hugs for the birthday boy from his cousin

One of the special things they do at school for the 4 and 5 year old birthday's is the family gets to come in and Will shows pictures of himself from age 1, 2, 3, and 4 to all his friends. Then, the gets to carry the globe around the "sun" each time to signify a year. Then at the end everyone sings Happy Birthday. You could tell he thought he was THE most awesome kid that day. He got his birthday crown, special snack, all eyes on him for showing his photos.

 

Ms. Monica pointed to the globe and asked Will what it was called. He replied, "the orange continent" - she was pointing exactly to it. Now you know what I'm up against every day :-)

 

MORE birthday cake at home that night after dinner with both sets of grandparents.

He has been growing so much and so fast lately, that all he got for his birthday from us were clothes. Literally, his pants are all high waters. Thank goodness his boots keep him warm on these random chilly days we've been having in April.

The redeeming moment of the night was getting Aunt Lisa and Tom's card in the mail. It had a sword you could blow up and play with. Whew! Finally, a toy.

 

 

For a long time, I couldn't see Will past the age of 5. Now, I just feel so blessed to have what we have every day. I no longer put a time stamp on things, but just try to enjoy him, our life together and all the crazy stuff that fills up the day. I am so incredibly proud of everything he has accomplished. He works SO hard to do just half of what other kids can and he does it with a smile and joy in his heart. I love you Will, forever and ever and always.

 

Lion Dance Gift

One of our friends who we met through Will's school has always been super supportive and just all around understanding. We have had quite a few play dates and always enjoy hanging out with Christi and her kiddos. She teaches a music class that I would encourage everyone to check out, Crescendo Family music.

To celebrate the big 4-0, Christi had the ultimate party including a Lion Dance and asked her family and friends to donate to the UT Mitochondrial Center of Excellence in honor of Will. Pretty amazing if you ask me.

Thank you Christi and all those who contributed! The party raised $205!!

"I decided to have an awesome lion dance from the Lavang Lion Dance Team to bring good luck to my 4th decade, and have realized in my old age that I don't need presents and am better off having my party goers donate $5 to support my little friend, Wiggles." said Christi.

The Other Shoe...

I have been holding my breath, delaying and ignoring writing this post for a few weeks now... We met with Dr. Koenig for our three month check in last week and I am pretty happy to report that she said, and I quote "This is the most stable I have ever seen him." She even had to do a double take to look at his leg muscle definition. And by definition, I mean his stick thin legs are thicker and slightly more muscular. Maybe it's just all the chocolate milk he loves to drink.

He is 42 pounds and 3 feet and 5 inches tall. His two biggest problem are his GI system, which we've gotten fairly under control. I haven't had to do a suppository in months. The other problem is his physical limitations. He's walking, but his ataxia sneaks up and catches us all off guard. He will always have significant ataxia, but I've noticed that sometimes he doesn't want to hold my hand anymore walking down the sidewalk to school during drop off. It makes me incredibly nervous to let go - physically and emotionally.

It's been a year since we've been admitted to the hospital. We've had ER trips, but no admissions which is huge. It's huge because if we can avoid fevers, illness and inflammation then theoretically we can help stop some of the disease progression. Mince no words, it will progress regardless, but this is likely all attributed to starting the immunoglobulin infusions for amping up his immune system in October 2012.

I'm just waiting for the other shoe to fall off. I'm paranoid if I don't have my cell phone on me constantly that something will have happened (he's hurt, he's sick, some kid at school is sick...) I've actually caught myself recently not being as obsessed as to where my cell phone is when he isn't with me or Neil because he's doing so good. When I realize that I let my guard down I kind of get freaked out; like whew! I got a pass on that one. Better not do that again.

I think what prompted me to finally write all this down is the Boston Marathon... none of those people were waiting for the other shoe to fall off. They didn't even know there was a shoe to fall off. They lived in their own worlds and then out of no where, extreme tragedy. My heart goes out to everyone who is suffering, in Boston, or wherever.

When, how, why will the other shoe fall off for us? I have no idea. I just pray that it's not as physically horrific and gruesome as what those experienced this week. I can't even begin to understand the emotions we will experience with Will. I avoid thinking about it and don't want to dwell on it. Some day's I get lost in thinking about when, how or why. Just totally lost in that pain. While I'm putting him to sleep and listen to his breathing I think about how sweet that sound is and then what would it sound like if he was struggling. Then back to the sweet hum of his breathing and occasional sleep talking. Then back to the struggle and back to the sweet breathing.

We're in an incredibly good place right now. My heart goes out to those that are struggling or regressing with this ridiculous disease. I feel guilty or bad even saying we're doing good because there are many suffering in the hospital right now.

I'll stop rambling along now, but I guess I just needed to get this all out!

In other news, our big boy now is riding in style - booster seat style. The big heavy carseat is gone and Will happily climbs up in the booster seat. He gets a big smile when he can unlock the seatbelt himself and get down before I can help get him out.

Water shoes

Will appears to have a slight obsession with his water play shoes. At school on Wed. they are having the Spring Fling party with water play type activities and a bounce house etc. The water shoes and swim shorts were his infusion party surprise on Monday night.

He put on the water shoes asap and has been talking about them ever since. He told his teacher at the lunch table and when we got home this evening, he immediately asked where they were, took his shoes and boots off and put them on.

I was packing up his bag for tomorrow and asked him to pick a shirt to wear with his swim shorts. He said, "No, how about I just wear my belly." I couldn't stop laughing. What a nut!

Easter 2013

Hippity Hoppity, Will loves the Easter bunny....

It started with an Egg hunt at school, at a friends house and then at my parents house. Our little bunny was pooped by the end of the weekend.

 

He wanted to get in a little practice at the house... Grandma came for the infusion party earlier in the week and brought candy and money filled eggs to hunt and open as a surprise. So we had plenty of eggs and candy...

Egg hunting at a friends house.... I should note that he isn't dressed in a nice Easter outfit, he's actually a cowboy. Oh yes, that's right friends, you put on a belt in our house and you are officially a cowboy.

Ok, too funny not to post with his dumb and dumber hat hairdo.

Making popcorn with Mr. Mitch

The biggest egg of all!

 

Egg hunting at Papa and DeeDee's house

These two look like they are up to something...

 

Treasure hunt surprises!

 

Dinner outing with Peyton and Murphy! Will HAD to sit next to Murphy, I felt so tossed aside haha.

 

And finally, bed!