Friday, June 28, 2013

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

Thursday, June 27, 2013

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 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, Lisa Emrick or Fernando Scaglia,

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:


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:, 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!


Wednesday, June 26, 2013

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?

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

Monday, June 17, 2013

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.

Wednesday, June 12, 2013

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.


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 :-)