Friday, September 30, 2011

Stranger Friends

What does a four year Aggie baseball team letterman and now father of three children have in common with Will?

A few weeks ago I would have said nothing. Well that's not the case. Through Neil's business interactions, he met a man named Sean Heaney. Sean was helping Neil's company set up insurance and other various important things for all the employees. As he and Neil got to talking, Neil told him about Will and the Leigh's Disease.

A few short days later, Neil comes home and tells me that this guy, a total stranger to Will, wants to run the San Antonio Half Marathon in Will's honor AND to help raise money to find a cure.

This stranger is now a friend.

I hope that all of our friends will go to Sean's website and consider cheering him on in his admirable quest to help Will and other families.

Thank you Sean from the bottom of our hearts. It means so much to us. Good luck on Nov. 13. We will be cheering you on from Houston. Will has a pretty loud voice, so you might even hear him.

Thursday, September 29, 2011


Many of you probably saw the "Positive Polly" post...We left our IVF meeting last week with a lot of questions and they were mostly answered during this mornings THREE HOUR genetics meeting (more on that later) but I'm too excited not to share... We get to have our OWN babies! Assuming I can produce some good eggs and all. That means no egg donor, no adoption just Will's own little biological brother or sister who won't suffer the way Will is.

Lot's of mixed emotions on the whole subject, but overall, just extremely happy. Something seems to be working in our favor.

I will update this post later, but just too excited not to share.

So here's the update and more lengthy detail. I'm going to pretend that I have a major in Biology and Genetics and have a clue as to how Mito happens.

We met with a Genetics Specialist today that is very familiar with Mitochondria disorders. Will's Mito dr. recommended her and we were REALLY happy with her. My mom, two younger sisters and my mother-in-law came as did Will. We spent the first hour or two gathering medical history and discussing our family tree. My 15 page medical history of Will came in handy numerous times. haha. The first dr. asked me if I was type A. I said, of course. He quickly realized everyone in the room including my mother-in-law are type A.

After the "intake" portion of the appointment, we met with another dr. who along with two other dr.s answered all our questions and helped explain the disease from a genetic aspect. After that we headed to the lab for blood work. Nearly three and a half hours later we all emerged hungry and happy.

First, biology...
-Each cell has a nucleus which contains our genetic make up the traditional X and Y chromosomes. With in the each cell, but NOT inside the nucleus, there are Mitochondria. Within each Mitochondria, there are five complexes. I've begun to think of the Mito complexes as five little stations on an assembly line. Each complex has a unique responsibility and the last complex that is supposed to make the "widget" turn into the final product doesn't work for Will.

In general, there are two manifestations of Mito diseases. One is an X and Y linked that occurs in the nucleus. Then, there is an X only manifestation that occurs in the Mitochondria OUTSIDE of the nucleus, but still housed within each cell. The latter is what Will has, he has nearly 100 percent bad mito. He received too much bad Mito in the mitochondria surrounding the nucleus of the cell.

Now, Genetics...
For generations prior to me, my mom, grandma, great-grandma and so on have all passed down this X linked mutation. Now you say, gosh, someone else should have this in your family, but NO one does! This is just that rare, I guess. I don't think we'll ever really understand that. Additionally, this can affect girls or boys equally. Just because it's X chromosome delivered doesn't mean a girl or boy are at a higher risk. Remember, this isn't the X & Y in the nucleus, it's the Mito surrounding the nucleus which isn't X & Y linked, only X. 

So, in theory, both my sisters could be a carrier of Leigh's and their children may or may not be affected. At this point, only one sister has kids and they both seem fine. My other sister doesn't have kids on the horizon. So, that's good.

So, my sisters, mom and I all got our blood work done today to test for two things (I think this is it at least):
-How much bad mito is in our blood?
-Are either Julie or Lisa carriers of Leigh's Disease.

We should get the results back in the next 3 or 4 weeks. Once we have that appointment I will do a follow up posting with my families permission on what all this really means and the results. It's still somewhat vague, but at least we got a next step started today.

Side bar for my maternal  relatives who read this blog... once we have a better understanding of what to test for and next steps after we get our results, I will send you all a private email with details. It may be prudent to have testing done on my mom's sisters to see if they were carriers and might have passed this X linked mutation to you as well. It's unlikely since all your children seem fine, but just in case. I can only guess it's a question you all have thought of.

Why we can do IVF with my eggs...
The dr. confirmed that the ONLY Mito mutation I carry or could pass on is Leigh's disease. By designing a test probe for that and eliminating it in the embryo, then our chances of having a child with any sort of disease are back to the normal population.

Meaning, once we eliminate the mutation from the embryo, we're just like the rest of America, hoping for a healthy child. We're not a big fan of stats over here, so we'll just cross that bridge when we get there.

Since Neil and I are not interested in getting pregnant anytime soon, it's nice that we have plenty of time to sort all this out, work to design the test probe for Leigh's and decide if and when we'll do this whole IVF thing.

Regardless, today was a happy day for me. There have been a lot of small and really positive wins for us in mito world, but this feels more like a normal win. I don't know how to describe it really. It's like for so long we've been "comparing" our lives to normal people and we're just not normal anymore. So then you start comparing yourself to the Mito world and you feel like we've had some positive wins - mild case, Stanford drug study, high functioning little guy right now, continues to make progress etc. The fact that we'll be able to scientifically produce a hopefully normal and healthy child is shocking and makes me feel "normal" and of course guilty.

I'm not letting myself go to the negative, slippery slope today. I'm enjoying for what it's worth and all the emotional, moral, ethical, painful choices that lie ahead of us are simply on a shelf. They can stay put for a while.

I hope my sister Julie doesn't mind me sharing this story... today Will was a perfect angel in the dr. office. He really did an awesome job. That was in part because he was playing with her breast pump for nearly 20 minutes. He sat up on the table and put on her privacy drape thing, then hooked up all the tubes and bottles and wanted to put the bottles up under the privacy drape and pretend like he was pumping. Now many of you may say, WHAT??? But believe me, when you cram five adults, 1 toddler and three doctors into a room that's no bigger than an average bathroom you just go with it.

If nothing else, they won't forget us there. Will is quite the charmer, even with the breast pump.

Thursday, September 22, 2011

Positive Polly

Positive Polly in the house!!!

First, thank you all so much for helping spread awareness of Mito! offers a stat feature so you can see if people are reading your blog and where. In the past two days our blog has received more than 500 page hits (likely, 50% of them are our parents - we love you!).

However, I know not all of them are our family because people from Thailand, Spain, Netherlands and other countries have read it. So WOW! Thank you so much. I know so many of you have posted on Facebook and send emails to friends. I know if I called you out by name, I would miss someone, so if you've helped spread awareness this week, feel free to leave a fun comment today. If you forgot to send an email or like the UMDF's facebook page, it's not too late to help spread awareness this week either!

So today something  super positive happened. About a year ago when this whole medical journey with Will began, multiple doctors told us we shouldn't have more children. That pretty much crushed me for a long time. We want to give Will and (selfishly) us a bigger family. So, we started looking at adoption. Lot's of good and bad things about this route for our particular situation.

Then, when we found out that it was my egg that dropped all this bad mito mutation stuff into Will we REALLY knew we would never have any more biological children. A really wonderful fellow Mito Mommy suggested to look at using an egg donor and using an IVF process. So I greedily did my research and Neil and I both liked the idea a lot better than adoption. Essentially, we would find a healthy woman who kind of looked like me, then mix up a little of this stranger and a little bit of Neil and then put the baby inside me through IVF. I would carry and deliver the baby. We won't discuss the creepy factor here.

Well, this morning we met with a fertility specialist and low and behold, there's a lab in Chicago (one of two in the country) who can develop tests for specific genetic mutations and then isolate it and check to make sure the embryo doesn't carry the mutation. So, that means that IN THEORY, if all goes well, we could harvest my eggs, mix it up with Neil and then do an IVF procedure which would then insert the embryo inside me WITHOUT any known mutation.

Let me address a couple of things:
-we are NOT getting pregnant tomorrow, next month or even this year. We are simply in the research and planning process and have no intent of starting this. In fact, I plan on having a few rita's on a beach trip we have planned for May 2012. So no, there is no need to every ask me if I'm pregnant. Though I may look extra fat, it's not a baby.
-we are NOT interested in anyone's religious or moral views about this subject. Harsh sounding I know. It's like your momma (should have) taught you - if you can't say something nice, don't say anything at all. And if you're momma forgot to teach you that lesson, I'll adopt you.
-we are totally ok if we end up with twins
-we are actually not crazy, we promise

Overall, Neil and I are extremely optimistic now. We are meeting with a genetic counselor next week to go over quite a few "missing answers" to a lot of questions. For example, if we isolate this specific mutation, whose to say the next child wouldn't have a mito disorder manifest in a different way. So on and so forth. You're welcome to post a question and I will answer it to the best of my ability.

This is in no way shape or form a done deal. It's just nice to feel excited and optimistic about something that could make our lives more normal. So, I hope you join us in saying "yeah!!" Happy Thursday.

In honor of Neil's favorite football team - Week Old Will (ala May 2009). This season Neil has taught Will how to say "Football" and "Touchdown" - sometimes he even manages to get his arms up in a "V"

Wednesday, September 21, 2011

Bitter Betty

Every 30 minutes, somewhere in the world a child is born who will develop a mitochondrial disease by the age of 10 (according to the United Mitochondrial Disease Foundation).

My computer just timed out as I sat here staring at the screen lost in thought, mulling over what to write, and so on. The word "bitter" just keeps floating through my head. I don't like that word. It's a sad and lonely word.

It's funny because now when people vent or complain to me they usually apologize and say something like, "well I know it's not as bad as what's going on with Will."

The "pre-Mito" Lori would have joined in the venting and agreed that the other person's situation really sucks and then we'd swap sucky stories, have a good laugh and then likely chase that laughter with a lovely sip of red wine.

The "post-Mito" Lori just wants to slap the taste out of that wine glass, hurl it through the window and laugh manically at how trivial everything feels in comparison to seeing my baby so happy and innocent and know the ugly truth of what's likely to come and then wonder when and how the ugly days will arrive.

But that's not fair to anyone, especially that delicious glass of wine!

The truth of it is so many other mommy's with special needs kids probably want to pull the "post-Mito" Lori attitude on me because they are IN the ugly days. Their babies have died or are perishing in a painful and cruel existence. And that's what helps me remember that every person has their own story and no matter how big or small, ugly or pretty that it's not fair to assess or compare someone elses problems to ours. And it's certainly not a productive use of time to dwell on it.

Bye bye bitter, you may return to me just as frequently as a child is born with mito and that's ok. I just wish that mito statistic would have worked out a little differently for us. Tomorrow I'll work on a "Positive Polly" post :-)

Will's 1st Birthday Party Celebration

Will's 2nd Birthday Party

April 24, 2012 - 3rd Birthday Party TBD!

Tuesday, September 20, 2011

Second Opinion - Sorta

Neil and I chose to NOT get a second opinion because unless the lab got his MRI and the blood mixed up, it's pretty much all there in black and white. It's been easy to forget (haha, yeah right) but easy to forget that he's so sick when he's so healthy right now. And when I say healthy, I am comparing him not to a "normal" boy, but a boy with mito.

We received some follow up paperwork from the Stanford trial, Dr. Enns formal write up. It's sure hard to read it again, all spelled out in black and white.
"...homoplasmic mutation at 9176T>C in ATP6 (mitochondrial respiratory chain complex V)...."
"...MRI showed lesions in the basal ganglia. Low density was noted within the caudate heads bilaterally and the left putamen..."
"...because Leigh syndrome is a progressive neurometabolic disorder that is characterized by necrotizing lesions, particularly in the basal ganglia, midbrain and brainstem, children are at severe risk for rapid progression..."

(I had to google a lot of his three page letter.)

Ew. Ick. Just brings you back to the first few days. I remember clinging to my mom, crying and telling her I can't and won't do all this and how on earth is it possible to handle this. Well, here we are 10 weeks into our new life. I still don't know how to do this, but as our therapists says, "Your heart will expand and you'll be amazed at what your capable of."

Hey God, the size of my heart was just fine thank you very much. You could have just given us a healthy baby boy! But who am I to judge that.

There have been a couple of distinct "phases" I remember about Will's short little life so far. Sidenote: I have the first 22 months captured in a 15 page word document with one thumbnail photo of him per month. It's come in handy with all these doctors who want to spend 2 hours gathering medical history. I just hand them the document and then enjoy a little laugh while they look at me like I'm crazy. Let's look for some efficiencies in this process huh guys? I already know I'm crazy, so let's move past that and get to business. ( I don't know why this is highlighting in white and I am too tired to try and fix it.)  

Anyways, back to the point:

-Birth to about 11 months - ignorant bliss. I look back and laugh thinking about how worried I was when he drank 2 ounces less than he did the previous day. Ha! And how I was a little squirrel trying to pump and make sure we had a certain amount of milk in the freezer.

-12 months to 15 months - worry, but not really worried. Will's a big kid and we all know late walkers.

-15 months - 2 years old - worry, wonder, fear of the unknown. (Above picture is Will wearing his SPIO suit and first pair of leg braces.)

-July 5 - The known. The second worst day of my entire life. The first has yet to come. Neil and I dropped him off at school so we could lay in bed and cry. He came home wearing some funky mismatched clothes, but we didn't much care.

-Now - coping, dealing with our new reality and trying to have some fun (and not fall in the water, at least not deep water)

Tuesday's Mito takeaway: Did you send your email yet? Look at all the fun pictures you could show someone? :-)

Monday, September 19, 2011

Simple Request

Did you know that Mitochondrial diseases are as common as childhood cancer? Wow! Neither would I ever wish on my worst enemy (hopefully I don't have any either). But, wow! I think about how much awareness exists on childhood cancer and then alternatively on mito disorders. The divide is a big gaping hole. What's even more interesting is that they have actually pinpointed where and how mitochondria work in our body and theoretically the problem. There's just no fix - yet.

And hence, the continued need for Mito Awareness Week. So many of you have offered to help and lend support. Well, here's your big chance :-) Will needs your help to raise awareness so that one day, a cure might exist.

All I'm asking you do is become a fan of the UMDF Facebook fan page AND send an email to three people who you know we don't know and ask them to do the same. If you don't like Facebook, you can just subscribe to our blog. :-)

I've even done all the hard work for you!!  Below, you will find an email that you can copy and send to three people. :-)

Hi X,
I hope this email finds you well. One of my friend's 2 ½ year old son Will was diagnosed on July 5 with a life changing disease called Leigh’s Disease. It’s a very rare neurometabolic disorder in the mitochondrial disease family. The easiest way to explain is that this particular manifestation of the disease causes lesions on the brain and eventually the brain will stop functioning so on and so forth. There is no cure or suppressant. It’s unlikely he will live to see his teenage years.

This news wass obviously more than crushing to their family as he is their only child. While Will has a mild form and is currently quite healthy and the cognitive pieces of his brain do not appear to be affected ye, we know this won’t last forever, so they enjoy every minute. You can find out more about their story if you choose on their blog,

Did you know that Mitochondrial Diseases are as prevalent as childhood cancer? Probably not. That's why the week of Sept. 19 – 23 is the annual awareness week for the disease. As a sign of support to their family, they asked me consider doing two things this week in honor of Will and the whole mitochondrial family:
-Like the United Mitochondrial Foundations Facebook page
-Send three friends an email telling them why you liked it and asking them to do the same.

So I have chosen you. I hope you will consider liking the UMDF Facebook page and sending this to three of your friends. If you don't like Facebook, you can always just visit or subscribe to their blog.


Monday's Mito takeaway: Gosh, if you need me to spell it out for you.... No one knows about Mito -SEND SOMEONE AN EMAIL! :-)

Mito is a Mess

On Sunday night Neil and I attended a fundraiser for the Memorial Hermann Mitochondrial Center of Excellence. The CEO of MH and Children's MH were in attendance as was Dr. Red Duke and Dr.Taegtmeyer. Dr. T was really one of the only pioneers in researching and understanding the relationship between metabolism and mitochondria and helped put mitochondrial disorders on the map.

Dr. Koenig was honored last year at the event and also spoke at this years event. They had a silent auction with some of the art work created by children with the disease. We bid on one item, but don't know if we won. If we did, we'll donate it back to Dr. Koenig's office for decoration. Next year, we'll be donating one from Will! Overall it was a good program and hopefully raised some money and awareness.

It's amazing to think that this center started five years ago with ZERO patients and it now treats 300 patients. Dr. Koenig showed a map of all the states where they have patients. I'd say at least half of the states were highlighted. I couldn't imagine living in Florida and coming to Texas just to see a doctor. That's how few doctors understand the diesease. It's a complicated disease because it affects so many systems - heart, lungs, brain, eyes/vision etc. There isn't just a one stop shop.

I was constantly reminded last night and during the past year that we are REALLY lucky to live near such an abundance of really smart people who practice really complicated medicine.

This event kicked off what's been nationally recognized as the Mito Awareness week. So, every day this week I'm going to try really hard to post something daily about the disease. I missed yesterday, so I'll do two posts today - I sound like I'm on a weight loss program. Oh wait, I should be since I've been hosting pity parties - party of 1 - and eating my way through them. That and I'm a bridesmaid in a wedding this spring.

Sunday's Mito takeaway: Mito is a messy disease. There is no cure and it takes a village to help "treat" the child. Send a little prayer to the big guy upstairs that those families who do not have easy access to advanced health care find it.

Our latest addiction - firetrucks. I downloaded this firetruck app on the ipad. It's four videos about 2 minutes long that show real life firefighters and where they live, their tools and how to fight fires. Every day he asks to watch it. I think it might have replaced Barney.

Tuesday, September 13, 2011

Chew on This

Well, we're back into the groove of being home from Cali. Will slept like a champ on Sunday and the jet lag didn't seem to bother him too much. He seemed happy to be back at school and the teachers and kids gave him a warm welcome on Monday. Will brought his cousin Carson a Stanford Frisbee and it was quite the hit!

So you may be wondering if we've noticed any changes since Will started the drug. Nope! We don't anticipate seeing anything. We simply hope that the brain scan on week 13 will show improvement.

His wonderful OT, Risa, did chew therapy tonight with Will and he was able to say her name Re-sa really clearly. I'm sure Aunt Lisa will be happy to hear that he can say "Le-sa" now too. :-) We'll have to make a phone call soon. Speaking of chewing. We had a big milestone tonight!!! Will ate a Ritz cracker tonight. He took a clear bites, chewed, swallowed and didn't choke!

This is a HUGE milestone for us. One of the classic symptoms of a mito disorder is hypotonia - poor muscle tone. That means even muscles in his mouth. Chewing is not just crunching food up - that's actually called munching :-) Chewing is defined as moving food laterally from left to right in your mouth and then munching on each side. He's a pro now at munching and the chewing is getting less sporadic and much more frequent.

So, while I continue to be paranoid every time he puts something more than liquid in his mouth, I'm getting a lot more confident in his ability - I never thought he would actually not choke on a cracker. We had a REALLY bad choking on a tortilla chip. I vowed off anything like that in the future, but now here we are, two years since we started solids, we chew! One day we're going to have another kid and it's going to be weird to have a child who (hopefully!) chews!

In other classic Will antics - his language and vocabulary has just shot through the roof. The other day he actually said, "Please help me mommy." Four words that made sense and were clearly spoken. He continues to imitate and mimic words and actions. My least favorite recent word acquisition is four letters and starts with "s" and ends in "t" - he picked that one up from dear ol' dad this morning :-) Luckily, there are lots of things that rhyme in case he decides to whip that out in public. Some of his new favorite words include firetruck, firehouse, suitcase and hotel. Can't imagine where those came from! :-)

Monday, September 12, 2011

If I had a Million Dollars....

Neil sent me this link and I found it a great read. Cancer, diabetes etc are "easy" diseases to try fight and raise awareness for because they are so prevalent.

Kind of like assigning a value on someones life because they have brown hair instead of red.

Mogul Using $100 Million in Race to Cure Daughter Lures Novartis

Bloomberg Markets Magazine

Dinakar Singh, founder of TPG-Axon Capital Management

Mogul Using $100 Million in Race to Cure Daughter
Paul Taggart/Bloomberg
Dinakar Singh, founder of TPG-Axon Capital Management LP, right, and his wife Loren Eng, center, sit with their daughter Arya Singh, 11, for a photograph in their home in New York, U.S., on Thursday, June 30, 2011.

Goldman Sachs Group Inc. (GS) partner Dinakar Singh discovered in 2001 that his 19-month-old daughter, Arya, had a crippling genetic disease called spinal muscular atrophy.
The malady makes the nerve cells that control muscles gradually deteriorate. There are no treatments, let alone a cure, Bloomberg Markets magazine reports in its October issue. Worse still, while the gene causing the ailment had recently been discovered, nobody in the drug industry was doing much about it, he says.
“I was fearful and anxious that treatments would be developed, but far too late to save Arya,” says Singh, 42, who founded and runs New York hedge fund TPG-Axon Capital Management LP, which has $8.1 billion in assets. “We didn’t want to find out 25 years later that the science was really there but there isn’t a drug because nobody focused on it.”
Singh, who left Goldman in 2004, has spent almost $100 million of his own money to create and fund the Spinal Muscular Atrophy Foundation. He wants to discover and develop a drug that he hopes will help his daughter, who is one of 25,000 SMA patients in the U.S. Children with severe forms often die within a few years, while those with mild cases can live a normal life span with supportive care. Arya, 11, and starting sixth grade, uses a wheelchair.

Saturday, September 10, 2011

Brain Scan - EPI-743

The super smart radiologist, Dr. Blankenberg who figured this whole brain scan thing out, works with Dr. Enns in the study and reviewed Will's brain scan. Dr. Enns was able to catch up with us on Friday between blood sampling and went over the results with us as well.

I know this is baseline, but it's still hard to hear: “William has a lack of uptake in the central gray and cerebellum, with a normal cortical uptake except in the temporal lobe.”

All that means that his picture was "dim" as it should be since Complex 5 isn't working correctly. I continue to remind myself that this is good. His brain in general is very healthy. Dr. Enns said his cognitive part works great.

The baseline spect isn’t very informative until we can compare to Week 13, but just wanted to pass on the update. 

It should and must be noted, we received results in less than 24 hours. This alone made my day. I figured as with previous tests this would be weeks....

I just love this picture from Muir Woods. Will has the most innocent heart and him hooking his finger through the knot in the wood just reminded me to stop and sniff the roses, so to speak. Would love to hear what makes you stop and sniff the roses..... I uploaded the pictures from our trip, you can see them all here.

Noooo... Ho-tel...

Saturday morning we got the ever startling wake up call about 6 a.m. and made it down to breakfast by 7 a.m. Left for the airport about 8:00 a.m. for a 10:50 a.m. flight. We knew with all the terrorist "stuff" we wanted to get an early start. Mostly because we had a cooler full of drugs on ice (hehe) to get through security.

The airport was packed. I mean, packed. The lines to check in moved quickly, but it was full throttle at the airport. Neil's parents had some problems checking their bags and had to repeat the process, (don't ask... it was ridiculous). Meanwhile, Neil, Will and I went to the special "kids and family" line in security. We were like, yeahh! All right, two families ahead of us, this will help bypass the 200 people in line at regular security. Ha, boy were we wrong. Pat and Ed beat us. There were two families in front of us. Major irritation, but oh well.

We had to dump out stuff from the toy backpack for security check, but luckily the "you open this bag, you'll kill this boy" letter from Dr. Enns at Stanford worked on our astute TSA agent (note, sarcasm here) and we made it through security without too much hassle. After that I could have cared less what happened.

I just have to say, how on Earth did Pat and Ed go through bag check twice, wait in a 200 person security line and still get through quicker than the two families in front of us. I'm not sure I see the point here, but whatever, this is why I don't work for TSA. We got to stand there and watch the girl and guy TSA agent flirt with each other and laugh while we all stood there trying to understand why it was so hard to push bins through a scanner and take your shoes off.

I digress, back to getting our cooler of drugs home. Will was a tad fussy on the beginning part of the flight, it didn't help that we had some delays on take off. You know it's not good when they page "if there is a nurse or dr. on board, please come to the center of the cabin" Back in row 39 of 40, we assumed someone was puking because the airport "hazmat" team was on board and cleaning as we landed in Houston.

We said our goodbyes to Pat and Ed as they had a connecting flight to San Antonio, headed to baggage claim and met my parents down there for our chauffeured trip home. Talk about awesome. We were able to take Will out there and he played with my parents while we got the luggage.

Sidebar, I hate the 50 pound weight limit on suitcases, why make suitcases that big if you can't use every square inch of space. This could easily turn into a TSA rant, perhaps I should change the title of the post. I am very proud of myself though, I screwed it up on the leg to Cali and had to move stuff around in the suitcases while we're standing there trying to check in. Luckily, the baggage agent likes to round down on the scales, 50.5 pounds (who doesn't?). Then on the return trip home, I was half a pound under 50 on each suitcase. If you can't tell, I'm an over packer. Neil knows this and being the loving husband he is, doesn't say too much about it and still lugs these bags all over the place. I keep trying to pack less. That's another post.

So, we're home now, we've now administered three doses of EPI-743. If we see any physical improvement, it likely won't be till 6 weeks or later. It takes some time to sink into the system and work.

Lots of laundry to do, including a few Will sized Stanford t-shirts. We had quite the welcome home package from my sister Julie and her family. We've been enjoying some really delicious peanut butter and chocolate cookies. Will didn't mind either.

EPI-743 Day 3 at Stanford

Well this post is a day late. Our super secret free Wi-Fi password stopped working on Friday and we are too cheap to purchase the real deal. Plus, we had to pack and get ready to leave Saturday morning.

So, Friday... we reported to Stanford at 9 a.m. with the following schedule:
-Blood draw 1: pre drug
-Administer drug!!!!
-Blood draw 2: 1 hour post-drug
-ECG on the heart: 2 hours post-drug
-Blood draw 3: 3 hours post-drug

Needless to say, we got to know the lab guy pretty well. The first time Will wasn't sure what was going on so he trotted on in no problem, realized what was happening and started yelling. The second time he trotted to the doorway, stopped and started yelling. The third time, the lab guy came out to the waiting room, offered Will his hand and the two of them trotted down to the chair with no yelling. It was like Will's new best friend.

We left with a cooler full of drugs and Will's t-shirt covered in stickers.

I can't tell you how much we have been anticipating this moment. We know the drug isn't a cure. But it gives us hope in what feels like a hopeless situation. There is no cure, not even a viable one that people are talking about. There's positive words and optimistic outlooks, and that helps.

We drove home from the hospital and I actually had a very heavy heart - for all those families who don't even get the opportunity to participate in a drug study. For all those families who have terrible terrible situations, mito disorders etc. At least with Will's specific problem, Leigh's Disease / Complex 5, there is a start - hope.

We ended our trip with a visit to San Jose for dinner at Maggiano's. Yes, I know we can eat that in Houston, but I'll say, food wise, this trip was kind of a bust. The Stinking Rose was good and so was Carl's Jr. Everything else was just kind of ok. So, we went with something we knew. It was in this awesome mixed use area king of like the Houston City Center or The Woodlands Town Square. They had a small grassy area and a lady on stage singing with a guitar - she sang likely the longest version of Stand By Me we have ever heard.

Will loved it! There was a fountain which his splashed around in with his hands, found the Greek food truck parked nearby (shocker, he found food!). It was a great end to the whole trip.

We were getting ready for bed and we told Will, tomorrow we're going to get on the airplane again and go home. He said, "nooooo ho-tel" - he clearly was loving life at the hotel. What's not to love? Housekeeping comes daily and I didn't wash a single dish.

We started the day at the train set in the hospital

Five stickers, four juice boxes, three blood pokes, two elbow bandages, one dose of EPI-743 and sunglasses on... you guessed it... upside down.

After dinner, with mom trying to give Will kisses :-)

Splashing in the fountain

Checking things out on stage

Thursday, September 8, 2011

EPI-743 Day 2 at Stanford

The short post: As part of the Stanford EPI-743 trial, Will had a brain scan today and was put under anesthesia. Overall he did great.

The long post:
Today Will had the brain spectrum scan done. Per my previous post, this is where they put the dye into his system and then take "pictures" of his brain to see how fast or slow his body metabolizes things. Ideally, at week 13 after being on the drug, the brain scan and the picture should show a "brighter" hue, rather than a dim baseline hue.

Food cut off at 7 a.m. and then fluids at 10 a.m. We stuffed Will to the max at breakfast with oatmeal, peanut butter and some egg.We arrived at the Children's hospital about 10:45 a.m., checked in and we were called back to OR prep about 11:30 or so.

We got started on a sedative which made Will really sleepy and even more easy going than he already is. That helped get the IV started in his hand. He must have great veins because the nurses seemed pleased. I also found it interesting that they gave him these band-aid like things. They were supposed to warm his veins to make them even more visible. They covered nearly the entire top of his hand and the nurse drew a dinosaur on it to match the one on his PJ's.

We changed him into the Stanford issued hospital gear - the cutest I have seen so far from a hospital. He did great with the IV, not too much fuss about it and then we got hooked up to all the various monitors. We had Barney going on the ipad and overall a very happy camper. Who wouldn't be happy if they were feeling a little buzzed, watching their favorite purple dinosaur show in their PJs and cuddling with mom and dad! (This is for children, if you are an adult and find the described scenario pleasant then that might be a bit weird)

About 1:15 p.m. we were wheeled back with Will to the procedure room. We really liked the anesthesiologist, Dr. Krane. He apparently works closely with Dr. Enns in the mito program and does all the mito kids. Nice guy and Will and Dr. Krane seemed to be quite taken with each other haha.

About an hour and 15/20 minutes and a sandwich later, Neil and I were paged to recovery. We spoke with Dr. Krane and he said Will did awesome! No problems and everything went as it should.

We stayed in recovery with sleepy head for about 30 minutes. Then the nurse randomly asks, does he like Popsicles? I said, well, we don't do them much at home because it's kind of easy to choke with them. She said, well, we use them to wake the kids up. Just rub it on their lips and they wake up. We agreed, so off she went to get a Popsicle, meanwhile Neil and I are muttering how that's kind of cruel, but whatever, let's get out of here!

Boy was she right. I wish I had videotaped it. He popped up with all his tubes and wires ready to kick the blankets off and ready to fight whoever had woken him up. Will seemed to react poorly to this anesthesia experience whereas in the past, he pounded two or three apple juices and was very agreeable. This time he wasn't interested in drinking and acted like Oscar the Grouch.

We got all the tubes, IV etc. out and off and were released. He cried pretty much the whole way back to the hotel in 5 p.m. rush hour traffic. Not even the DVD with Barney could distract him. Alas, we got back to the hotel and he promptly chugged a chocolate milk, ate a yogurt and seemed to be in better spirits. A quick trip to the grocery store to get some mac and cheese furthered his better attitude and he ended the night with a full belly of mac and cheese and some chocolate shake :-)

Tomorrow, Friday, we report for our final baseline day where we'll do some additional blood work, receive the first dose and then do an ECHO/EKG on his heart. We should be done about 12:30 p.m., then nap and have the remainder of the afternoon and evening for fun and packing.

Funny side story... they needed to get a urine sample. So they have this bag that you put down south, but it's got an adhesive. So essentially the urine capture bag was stuck to him during the procedure in hopes of capturing some pee. Well, we checked his bag post-procedure and there wasn't a drop. Neil and I were nervous because if we didn't capture any urine, we'd have to do this back at the hotel and then drop the urine sample off Friday. We've done this before and it was not fun.

Eventually, the chilly room got to his bare bottom and he started to pee, and pee and pee and pee. He darn near filled up the entire bag. Then the nurse says, well, I'm not sure how we're going to do this. Neil and I exchanged "the look" and we eventually had a clean urine bag removal and PLENTY of urine. Kind of gross I know, but it was hilarious.

Neil and I were reflecting at how awesome this trip has been. We have created so many memories and have enjoyed just spending time with Will and showing him so many things. Everyone we have encountered has been beyond helpful, understanding and caring. We're looking forward to our return trip at the end of November.

Post sedative, notice I am holding his head up. He was that "drunk" haha

Lounging on dad, with dad's visor.

The frog / budda man chillin on the gurney, waiting to go into the procedure room.

Long lashes sleeping, and sleeping.

Michael Jackson glove, check. Sunglasses on upside down, check. Bad attitude, double check. I don't blame him though, I'd be pretty mad if I had not eaten since 7 a.m. and then was woken up with an ice cold smack on the lips.

Mr. Martin at his desk, typing a hilarious email to all his friends. It's amazing what a full belly can accomplish!

Wednesday, September 7, 2011

Mito 101 & EPI-743

Sorry in advance as this is likely a long, confusing post without any pictures or fun-filled antics :-)  

Today (Wed.) we had our intake meeting with the dr. at Stanford who is conducting the EPI-743 trial. Dr. Enns seems to be a very knowledgeable and friendly doctor. He spent nearly two hours with us going over mito disorders, Leigh's and complex 5.

Will is patient number 21 to be admitted to the trial. He is the only one with this particular mutation so I suppose you could say this will make it all very interesting - both for the dr. and for us. We were told he is likely the healthiest patient in the program. It sounds like many of the others have g-tubes, seizures, non-verbal, non-mobile. So, I do consider ourselves extremely blessed and lucky to have a mild form of this wretched disease.

It's a 13 week trial, this week we're doing baseline testing, then we'll get the drug on Friday. During the next few weeks we'll have to go to Will's mito dr. and have "safety labs" done, which means they make sure his body is still functioning ok while on the drug. Then, on week 13 we return to Stanford we run all the same tests again to see how his body is responding. It usually takes at least 6 weeks to really see any differences, if you're going to see them at all.

Lesson #1: Mito transfers aka the waterfall
In each of our cells there is mitochondria and in each mitochondria there are five different complexes that an electron must flow through and through each complex hydrogen is created that is used to create energy.  At complex 5 the hydrogen passes through a tunnel and with the help of an enzyme creates ATP which is the fuel for our body's energy.  Will's issue is in complex 5, whereas other mito disorders can involve roadblocks upstream.  Dr. Enns noted that complex 5 is obviously working or Will wouldn't be here, it's just not working at capacity and it is our hope EPI 743 can enhance complex 5's abilities.  

Lesson #2: How EPI-743 works, in theory
The drug should hopefully help push electrons through Will's electron transport chain and give Will more energy (i.e. give his engine more horsepower).  Dr. Enn's likened it to a car's engine that is totally fine cruising down the highway at 45 mph, however, it starts to smoke, clunk and shut down when you floor it and try to get it up to 70 mph.  

Lesson #3: How will you know if it's working?
Tomorrow, we are going to have something called a brain spec done. I originally thought it was going to be an MRI, but I was wrong (gasp!). A special radioactive dye will be put into his IV and travel through the body. It's totally harmless. Then, they will do a brain scan to see how the dye travels and at what pace. Since Mito disorders are a metabolic neurological disorder, theoretically you can see how slow/quickly his mito processes the dye. Usually, at the baseline brain scan the picture is a very "dim" color. At the end of the trial, on week 13, the brain scan usually looks brighter - if the drug is working.

Ok, now time for Q&A class!
Q: Tell me about the drug.
A: It's an oral dosage and it's suspended in sesame seed oil. Tastes kind of like fish oil. It must be kept cold and can't be exposed to light (it's packaged in an amber bag). He'll start with one dose per day and then work his way up to two and then three. She's sending us home with a cooler with a 7 week supply of the meds. We'll get another one delivered to Dr. Koenig's office on week 7. I don't know the dosage yet. We will stop the CoQ10 and any Vitamin K, but the other meds he can stay on.

Q: Are there any side effects.
A: None that they have seen related to the drug. Two of the patients in the program have passed away, but they don't believe it was related to the drug, but rather the progression of the disease.

Q: Since Will's cog seems to be the problem, do you think the drug will still work?
A: We don't know, Dr. Enns seemed cautiously optimistic.

Next steps:
Thursday: Brain spec, skin biopsy and blood work. Since Will is going to be under anesthesia tomorrow, he can't eat anything past 7 a.m. and then no more fluids after 10 a.m. We report to the hospital about 10:45 a.m., get checked in and they start an IV to get him heavily hydrated. They will put him under anesthesia about 1 p.m. and then we should be in recovery, I'm guessing around 2 p.m.

The skin biopsy is a very simple process and they will examine and run various tests to help them understand Will's particular biochemistry which will hopefully assist as the interpret data and consider the drugs results. Don't ask me much more about this yet. I need more answers, but when they asked us if it was ok, the explanation made sense.

Friday: We report to the hospital at 9 a.m. and we'll be doing a different set of blood work that must be done directly before the drug is administered, then one immediately after, then again a few hours after. Additionally, we'll be doing an ECHO and EKG test on his heart. Sound familiar? We just did one a week ago. Which actually really worked in our favor. We were able to apply that test to this trial. So rather than having to spend wed. afternoon doing the ECHO /EKG, we were able to play!

Saturday: We leave. I'm sure Will is going to be excited to be home. Though, he has certainly enjoyed his big pull out couch bed and has added "hotel" to his ever expanding vocabulary.

- - - - - -

After intake we came back to the hotel and then tried out a little bakery/sandwich shop around the corner. They are so high tech here in Silicon Valley... you could order off ipads. *eyes rolling* We sat out on the patio and enjoyed the awesome temps and NOOOO humidity!

Then it was off for a quick hour nap, playtime with Grandma in her room and then over to Stanford to explore the campus and buy Will a t-shirt- or three :-) Drove around and found the fun part of campus, places to eat, drink and shop! Walked around, ate at an Italian food place then back home for bath, bed and blogging.

I'm off to bed now. We are going to wake up about 6:30 a.m. and load Will up with everything off the breakfast buffet we can find. He's been eating like a horse, but I'm sure tomorrow morning will be the only day he's not interested in eating, the one day he needs to. 

Likely tomorrow will be a low key day and night. I have no pictures to share today, but if you read this whole posting I will reward you with a cutie pie picture from a few weekends ago. I did update our web album before we left. Check out the last 20ish pictures for new stuff.

If you have any other questions etc. feel free to leave me a comment and I will answer you back. Peace & Love from Cali!

Tuesday, September 6, 2011


The weather here is awesome and the traffic, not that great. We started Tuesday off with a trip down to the breakfast buffet where Will enjoyed an omelet and some oatmeal. We had a slow start and eventually made our way to the car and we were off to Muir Woods.

One of the really weird things about San Fran is that the main highway we take everywhere, 101, dumps you off in downtown, then you have to go about 2 or 3 miles in downtown to get back on the same highway. Those 2 or 3 miles take like 30 minutes, especially now that people are back to work. So, we have been spending a good deal of time in the car.

Muir Woods was awesome! To get there we also had to go on the Golden Gate Bridge. A low fog was out, so it was kind of like driving in the clouds. Talk about winding, up and down roads. Whew, I was pretty nauseated and nervous. After our big adventure in the forest, we stopped to see what all the fuss is about at In-and-Out Burger. We all agreed it would never beat a good ol' Texas Whataburger :-)

Will took about an hour nap and is now playing in Grandpa and Grandma's room with dad. I am enjoying some peace and quiet! We're going to take off shortly for a local microbrewery called Faultline and then early to bed. We report to Stanford tomorrow morning at 8 a.m. We'll have to leave here easily by 7:15 a.m. to get through all the traffic, only about 12 miles away, but easily a 45 minute drive.

We should find out a lot more about the study and our schedule tomorrow morning which will be nice.

I'll leave you with pictures from the big California redwoods.

Driving across the Golden Gate Bridge

This tree stump was nearly 1,000 years old

Big tree!

One of the fallen trees which spanned behind us over a babbling brook

Reaching high...

This was a burned redwood and the inside was hollow, but it was a tall tree.

Hanging out in a burned out tree. The bark was so smooth and cool.

Monday, September 5, 2011

Firetrucks, Fun and San Fran

We arrived in San Fran Sunday afternoon and now here we are Monday at the end of the first full day. Whew! The nearly four hour plane trip went great. Will did a good job and only had a little mini-meltdown at the very end during landing.

Hanging out in Grandpa and Grandma's row

The hotel set up is great! We've got a bedroom and living room and there is a pull out couch in the living room / office and Will has been sleeping on that. So, it's nice to have a room for Neil and I to watch TV and hang out after Will has gone to sleep. We stayed at a hotel before and it was a one room. Neil and I basically sat in the dark for an hour or two.

We have seen firetrucks everywhere today! Literally, every location we went there was a firetruck. What made it even more funny was that we ended up getting a rental car with a DVD player and at the last minute I threw in a Barney CD "Barney Goes to the Firehouse" - THANK YOU Mrs. Edwards! It has saved us today as we've had  lots of driving.

We got up and went to Fisherman's Wharf this morning. It was fun! Will wasn't a huge fan of the cold air blowing off of the water, but I guess he eventually got used to it. We saw the sea lions and rode the merry go round. Half the time he was so excited to ride, and the other half of the time it was "off off off" - but he loved waving at everyone.

We headed back to the hotel for a nap and then went back to San Fran for dinner at the Stinking Rose. It was a recommendation by multiple people and it did not disappoint. We all have badddd garlic breath and I'm going to have to find the recipe for its "Rose Relish" which was garlic, parsley and olive oil. Delish!

We also took a stroll through China Town. We went through it right at the end of the day and it was interesting to see all the produce stands and clean up happening.

Tomorrow we're heading to Muir Woods for a look at the redwoods and then possibly off to find a real steam engine train.

It's been really easy to ignore why we are here. I was cuddling with Will tonight and he was falling asleep and he just looked up at me and leaned over and gave me a kiss on the cheek. So sweet and it made me smile. He's been in such a great mood and very happy. Which is super helpful! We report to Stanford Wed. afternoon.