EPI-743 Week 13, Day 1 at Stanford

We made it safe and sound to California. This trip has been a little more unpleasant than the first one.

I guess the Elf must have taken all of Will's magical happiness to the North Pole. He was in rare form on the plane. A combination of a poor nights sleep the night before as well as no nap. So, the plane ride was less than pleasant and all he wanted was me. Thankfully it was a light flight and we were able to space out in the back of the plane.

After wishing I had taken advantage of the in flight drinks, we landed and headed to baggage claim. The car seat never made it. Apparently it's somewhere in Denver. Not helpful. Neil and his dad went on to the car rental counter while my mother-in-law watched Will and I dealt with the missing car seat.

The nice young man at the counter who clearly did not have children told me that we could use a "loaner car seat" till they get our seat back from wherever it really is. He told me they had plenty of of car seats I said, like big ones, for 30 pound kids. Oh yes he said.

We opened up three or four of the luggage cages up and down the baggage claim area only to discover they were ALL INFANT seats. I kept trying to explain that those are for like 9 pound babies, not 30 pound  toddlers. That was a lost cause. So we hoofed it back over to his counter and as I was texting Neil to rent a car seat at the car rental counter, I saw out of the corner of my eye something big in a cage we didn't look in, which was of course three feet from his counter.

I asked him if we could open that cage and through some miracle the @*&^ was a legit car seat! We assessed the seat and it appeared to have working locks and a seat belt and off we went. Neil came around and picked us and the car seat up. We landed local time about 1:30 p.m.

Supposedly the airline is going to drop off the car seat at our hotel tonight. It's 7:45 p.m. local time. I'm hoping that it arrives soon, because we are pooped!

I don't think we were even out the airport and Will was pretty much crashed. I spent the rest of the way to Santa Clara, where we're staying, on the phone making sure we have the correct schedule and locations for tomorrow and Friday.

We arrived at the hotel about 4 p.m. and sat in the parking lot for a good while letting Will sleep off the grumpiness. He woke up, we unloaded and then went to get some dinner, diapers and ice cream :-)

Our schedule for Thursday and Friday:

Thursday:
9:00 a.m. - Cut off all food, he's allowed a light breakfast
10:30 a.m. - Check in at the hospital
11: 00 a.m. - Check in at the Heart Center for ECHO and EKG on his heart
Noon - No more fluids
1:00 p.m. - Check in at the basement for brain scan
3:00 p.m. - When he is scheduled for the actual scan

Friday:
9 a.m. - Appt. with Dr. Enns - he will hopefully be able to review the brain scan in advance and let us know what he sees - positive or
??? Lab work
Then hopefully off to explore San Jose some more.

Saturday:
Head home!

Will being goofy and laying in the suitcase while we were packing.

Trying to scare us.

Passed out cold in his loaner car seat on the way to the hotel.

Second wind after mac & cheese, broccoli and chocolate ice cream plus a warm bath and cozy PJs.



Stanford - Part 2

Our house is a disaster area right now - at least in my view.

First, we pulled all the stuff out of Will's room so that his room could get painted. We're going from a "baby yellow" to a "big boy tan" along with new furniture and bedding. He barely fits in his crib these days.

Then dragged out all the Christmas stuff.

Then packing. I am an multi-day advanced packer. I like to start my list, make sure everything is clean, start packing, double check it, then add in a few more things I really don't need, then remove those things and so on... I know, it's pathetic, but hey, it's my process.

We're packing to head to the last portion of the Stanford study. The study requires you to come on Week 1 for baseline testing, then return on Week 13 for "post-drug" testing.

So our schedule for the week is:
Monday: work and school
Tuesday: painter and some other home repair things; packing
Wednesday: travel to California
Thursday: EKG & Echo on his heart in the morning; then anesthesia and a brain scan and skin biopsy in the afternoon
Friday: meet with Dr.Enns at 9 a.m. and then lab work
Saturday: travel home

The big deal here is the brain scan. During Week 1, it showed a dim picture of his brain, as it should have. The hope is that now having been on the drug for 13 weeks, it will show a brighter picture of the brain. Meaning, the drug is helping increase mitochondrial activity, therefore an increase in energy and so on.

Anecdotally, I can say that we've noticed a few big changes:
-he no longer walks pigeon toed, rather, his feet point straight ahead
-he can climb up and down stairs on his own
-his BMs have become more consistent and we don't have to use nearly as much Miralax
-his chewing is legit now, he can chew up most anything
-his vocal and pronunciation has improved - likely this goes hand in hand with the tone in his face for chewing.

Who knows if it's because of the drug or just Will working hard - or maybe both!!?! We'll find out.

We didn't leave much room this time for "fun" but I'm sure we'll venture into San Jose for dinner and some fun on Wednesday and Friday. Thursday will likely be a low key hard day for all of us.

The most exciting part for Neil and I is that we get five whole days in a row with Will. No work, no day care, just hanging with Will. Granted, the circumstances could be a little more ideal, but we'll take it.

I'm selfish, I want every minute that I can get and I want to give Will as normal of a life as I can - that means keeping him in school, Neil and I working and giving him opportunities to be just like his friends.

I'll try to post from California with updates and photos so stay tuned!

Just a random picture from Thanksgiving weekend during a sleepover at my parents house.

"Lights No Work Mommy"

Christmas arrived at the Martin house this past weekend! We decided to get a fake tree to eliminate mold, allergies and general yuckiness, thereby eliminating an option for Will to get sick. For whatever reason, Neil and I do not do Christmas trees well. Something always seems to be just a smidge off. This year is no exception. We got the tree purchased (20% off!), up, fluffed, lights, garland, ornaments and plenty of tinsel all in one day. The lights were a small mishap with not quite the right assembly, but whatever.

I decided to nap with Will and about 20 minutes before we woke up, the tree died. Neil said all the lights just went off. We checked the breaker and it was fine (of course I started flipped switches around and the football game went off). So a few tense minutes later I started unplugging the lights, plugging things in and out and all around. The net result, the top 90 % of the tree looks great. The bottom 10% has a string of dead lights and not much else. I can live with that :-)

Additionally as Will was decorating he selected one area of the tree and there was no other option for ornament placement in his mind. So, there's a little cluster of ornaments in his spot.

Will's cluster of ornaments - a couple of handmade ones as well as his favorite - Santa!

Forever the little helper - I think every other word out of his mouth is "me help"

The tree pre-tinsel and when all the lights worked.

The tree post-tinsel, without all the lights working :-)

Merry Christmas!

PS: The Elf on the Shelf also has arrived! I'm sure there will be entertainment on this one as the season continues. We read the book and then magically, the Elf arrived on Will's bookshelf! He was freaked out for a minute, but then seemed to get into it.

Thankful

Thanksgiving has come and gone, but I can't help but remain thankful for what we have. We were watching a 60 Minutes special on the dire homeless situation in Florida and it just reinforced that we don't have it so bad. Yes, really bad stuff is likely to happen one day, but right now life is good.

We celebrated Thanksgiving at my parents house with plenty of food and then some. The highlight of the weekend was the "roller coaster" my parents decided to give the little guys for an early Christmas present. I have some video, but couldn't get it to load properly. I will work on it. It's hilarious.

Basically it's a big ramp with a go cart on top and Carson and Will took turns riding. My parents have a pretty long driveway so they were able to get A LOT of speed going. I was a nervous wreck the first few rounds, but then Will seemed to get the hang of it and you couldn't keep him off it. I really thought they needed a helmet but the center of gravity on the cart is so low that it would be shocking for it to flip over. Again, perhaps with our lucky we need to invest in a helmet. :-0

They would go all the way to the grassy part - near the tree in the background.

I laughed so hard at this picture. Carson with his Gatorade mustache trying to hold his baby brother up and Will trying to hold hands.

Papa had a helper - all day.

Someone loves whipped cream!

Feeling Thankful

Gobble gobble all you turkeys. Will celebrated Thanksgiving at school last week and made an Indian headdress as featured below.

It's not officially turkey day yet, but as I sit here and write this blog I am just overwhelmed with "thankfulness"

A few months ago, I could never EVER have imagined feeling thankful or happy (thank goodness for therapy!) And now today I can't even begin to list all the things and people I'm so eternally thankful for. I know most people list God first, but I assume that's always just a given. My top two, at least for today....

1. Neil: even when you are a little crumbly around the edges, you are and always will be my rock
2. Will: my eternal sunshine and endless joy. My life is forever changed and I'm so thankful that you are the reason why, my perfect little angel.

Will's first Thanksgiving - 2009

Discharged!

Will has been discharged from Ms. Risa's helpful chewing therapy because he is now a chewing machine. Likely, if you ask Ms. Risa, I am the one who is being discharged. She's been like a security blanket for me.

You see your child choke just one too many times and you realize you never did that *&%$# CPR class while you were pregnant and can't remember the one you did when you were 16 and you really start having a panic attack.

So, I have been cautious to say the least. She would encourage me to add texture, make the pieces bigger etc. I would slowly SLOWLY come around to that and little by little realized that Will can handle bigger stuff.

In my defense, I didn't think it was fair to his teachers to send food to school that he might choke on, so I was slowly adding the stuff in at home and once I was certain he could do it by himself, then I would start sending it to school. Whatever, I'm here now. :-)

Gone are the days of cutting up blueberries! He can eat an entire raspberry now.

I was reflecting on this with Neil the other night. For whatever reason there is a specific conversation I've always had in my head with another mom. Her daughter is right about Will's age and about a year ago we were at their house eating dinner and she said, "isn't it funny how the kids chew so exaggerated, kind of like cows." I of course agreed and laughed and secretly wondered if I'd ever really know what she was talking about - Will was no where near chewing like her daughter.

Well, now, a year and a few months later, I KNOW!! :-)

Thank you so much Ms. Risa. My only regret is that you escaped me without a picture. I'm going to work on fixing that though!

I took these pictures the other morning when he was asking for more food to eat for breakfast. Sad little face, how can you say no to that!

Disney on Ice

A few weeks ago a dear friend asked if we'd be interested in tickets to see Disney on Ice. I said, sure, sounds like fun and if Will is an animal at least no one will know us. We ended up getting four tickets - me, Will, my sister Julie and her oldest son Carson.

The show was awesome! I was really impressed with the whole thing and Will and Carson had a great time. The most awesome part were our seats - which was a huge surprise. We picked up the tickets at will call and were shocked to find out we were basically on the front row!

Big shout out and thank you to Kay Vincent and Jean! You guys rocked our whole weekend.

Will was largely obsessed with the toy that the kid in the row behind us had. So of course, me being a dragon mom, purchased one of these overpriced, but yet mesmerizing toys for Will during intermission. He was ecstatic. I don't know how much he saw of Peter Pan because he was so focused on his new toy.

THANK YOU THANK YOU Jean and Kay!!!

MIA

Well I have been missing in action this past week, with good reason :-) Last weekend the 12/13 Neil wasn't feeling all too hot and also had a friend visiting from Florida, then leading into the first part of the week I had a big presentation for work and once that wrapped Wed. I promptly got sick with some sort of stomach thing.

So, between me and Will unexpectedly staying at my parents house while Neil was sick, working till 9:30 p.m. this stomach thing was not welcome. I really don't know what it was, but it knocked me out - hard. I think I was awake only 8 hours between Thursday and Friday combined. It finally seemed to pass on Saturday around noon. The only positive was that I probably lost 10 pounds - hopefully I can keep it off during the upcoming Thanksgiving festivities.

All in all, things are fine. We dodged two bullets so far with Neil and I being sick and Will not getting either. When we found out Neil wasn't doing good, I called Will's mito specialist and she said to get Will to the pedi and started on antibiotics, just in case. We've added that to the daily mix.

On Sunday, Will helped me make some banana bread or "cake" as he called it.

The Company You Keep

So, for all of you non-technical people (I am still one of them) as the blog manager of this blog I can actually see how many times a day people look at the blog and from what country and other random things I really don't bother with.

I am proud (??) to say we have had more than 10,500 page views. I'm guessing 90 percent of those are from me, Neil and our family. But, we also have 50 committed followers who receive an email every time a post goes up. To me that is just nuts - so thank you loyal family and friends for finding the COURAGE to live this journey with us. You don't realize how your comments put a smile on our face - that you care enough to participate in a meaningful and genuine way.

I really started this blog so I didn't have to explain, re-explain and then send an email to our families and now here we are with people in Singapore reading the blog. I still laugh a little (sometimes out loud) to myself that I actually am finding time to do this.

In an effort to help new and old readers know what's going on, I started a new page "Will's (unwritten) Story" which details in broad brush strokes his story so to speak. I won't be updating it frequently, but as major things happen or as a lot of time goes by I will keep it broadly current.

My new favorite Will quote...

Me: Mommy and Daddy love Will forever and ever and always.
Me: Will, how much do mommy and daddy love you?
Will: everrrr always

Just melts my heart.

Running for Will

As I mentioned in a previous post, one of Neil's friends is running the San Antonio marathon in Will's honor to raise awareness and money for UMDF. Well blogger friends I'm asking you to post a comment and help cheer Sean on! The race is Sunday, Nov. 13 and if I was Sean I would have probably started faking a cold or stomach bug weeks ago.

So, please post a comment on the blog to cheer Sean on! And, if you're so inclined, visit his website Running 4 Will and make a donation to help find a cure for mitochondrial diseases.

Hydrate, Carbohydrate and have fun Sean!

Health update

Last week, Neil took Will to an immunologist to get his flu shot and do a baseline study on where his immune system is at today. The outcome is that we'll need to get his blood work done and schedule a sleep study to get a baseline and make sure there aren't any sleep apnea problems. We don't have any reason to think that there is something wrong, but better to check. So, something else to schedule.

Our next big health adventure is the return trip to Stanford for the EPI-743 drug study at the end of November.

Will ate a cheese burger this weekend! It's a place I never thought we'd get. We've given Will pieces of a cheeseburger before, but this time it was simply cut down the middle, peeled some of the bread off and off he went. Not even a small gag! So proud.

Physically, Will continues to excel. His balance is getting better and he is taking stairs and steps a little bit better too. We are obviously letting him get a little more adventurous based on the skinned knee and bruises. In fact, big exciting moment!!! He went up and down the front porch stairs all by himself. This is a huge win!

Knock on wood, we haven't had any green snot in a long time. Did you get your flu shot yet? I've heard it's going to be a mild winter in Houston and hopefully that means a mild flu season.

Stay healthy and happy!

Stronger than they know

This is for my mom and sister's. Be brave. I love you guys.

The Ride is Rough Right Now

This is a long, complicated and emotional post so bear with me.

The short version of this post is that me, my mom and sisters are all HETEROplasmic carriers of the mutation, while Will is a HOMOplasmic. All four of us carry the mutation which means my sisters and I all could produce children with a HOMOplasmic mutation. Additionally, we're all four at a higher risk for having health problems - since Mito affects all parts of your body it could really be anything.

Here's the long post:
Will's mito mutation was passed directly and only from my egg, which means I either was the start of the mutation OR it was passed to me from my mom and possibly her mom. There are obvious implications for how this was passed, so about a month ago, my mom, sisters and I went to get our blood work done. The genetics dr. we are meeting with works closely with Dr. Koenig and we really like everyone we've met with.

Last Thursday we had an appointment to discuss the results. They went one by one and discussed each of our situations. For ease of posting, I'm going to do the same.

Lori: Not a shocker, I tested positive for the mutation as I am obviously a carrier. I am a heteroplasmic carrier which means not all of my mito are the same, which is why I don't have any symptoms. However, I will need to take proactive steps to keep viral infections low, follow specific mito anesthesia protocols and will begin seeing Dr. Koenig as a patient as well.

Julie: My middle sister and two years younger than me tested positive for the mutation. She has two boys. Carson, age 3 and Cameron, age 6 months. There have been no obvious signs that either of them are Homoplasmic carriers. On Friday, she is going to take the boys to get their blood work started. Our prayer is that by some miracle, neither of her kids are homoplasmic carriers.

Out of respect and privacy for her family, please understand that this is a scary place to be, waiting for blood results that will change your entire being. Once we know something, it will be posted her after she and her husband have had a chance to digest the results.

Lisa: My youngest sister, four years younger than me also tested positive for the mutation. She is not married and does not have children. She was told that it was their recommendation for her NOT to have children as they would be at a high risk to be homoplasmic carriers.

Diane: My mom. She tested positive for the mutation, meaning that some piece of that was passed to me. What we don't know is how it started or with who. The only reason why that matters is for my mom's sister's, their kids and their kids.

What some of you probably don't know is that in October 2008, my mom was diagnosed with Parkinson's. In speculative conversations with the genetics doctor, my mom likely has a mitochondrial disorder and the symptom's presented themselves as Parkinson's. The only thing that stays the same with mito disorders is that they all present themselves in any way you could imagine, Parkinson's, seizure, diabetes, blindness, respiratory problems, GI issues... whatever.

My grandma: My mom's mom is going to get blood work done this week as well. This will help us understand if there should be any cause for concern for my mom's sisters and their children. There is no reason for anyone to worry about this right now.

So how did this happen? Well, as we are in our mother's womb there are special repair cells that are supposed to go through your genetics / DNA chains and fix mutations like the one Will has. Since none of my other cousins, aunts etc show any sign of a homoplasmic mutation, I'm kind of assuming it did not start with my grandma.

My mom, sisters and I have our own Mito Dr. appt on Jan. 31. We'll cover the basics as a group and determine if any of us need to do further testing on ourselves. I'm really hoping this is not the case as Neil and I would really like to have a baby brother or sister for Will sooner than later.

So where does this leave us? Sad, worried, upset, freaked out, gut punched and so on. Rightfully so, I think my sisters just kind of assumed that it was just me and Will that were affected. So, the news was shocking. We have been digesting and working through it. I just hate this for them. I hate this. hate this. HATE.

I know how they both feel. I hate seeing them grasping for air and trying to funnel their thoughts and sadness. I just hate it. I hate it for myself because I relived all of it with them and then some.

Just for grins, on Halloween my mom had a surgery to repair some internal organ dropping. This is a planned procedure that really has nothing to do with anything I wrote above. There were quite a few complications leading up to the surgery, x-ray, CAT scan and echo cardiogram. All turned out ok, but jeez. It really made for quite the past few days.

So the roller coaster ride continues, I'm ready for the rush of info to take a break. This is part of why I've been MIA on the blog last week.

There are so many implications, unknowns and scary thoughts. Pardon the french here, but it's like we are in line at the sh*t buffet and they just keep taking our plates and serving up more. The buffet seems to be never ending this past week and I'm full. Haha, full of sh*t. At least I can still laugh at myself.

Halloween

Well, my previous post asking for Halloween costumes resulted in a lot of fun ideas. For whatever lame reason, I was a bad mommy and didn't get my act together for Halloween until Sunday, Oct. 30 at 5 p.m. I bought three pumpkins and a $10 skeleton glow in the dark costume at the grocery store.

Will had to miss the Halloween parade because he was at an already scheduled doctor's appointment that would have been very difficult to reschedule.

So, I really had no reason to get him a costume till the day before Halloween.

On Monday, we went to the Bilski's neighborhood parade - hundreds of kids, a firetruck and plenty of candy. We came back to our house for dinner and then did some trick or treating. When we got home, Will wanted to eat a piece of candy so we dove in and picked a piece. All in all, I think Will liked his costume and had a lot of fun.

Happy Halloween!

Our neighbor next door dressed up and Will made sure to stop by on his way home to say goodnight... he probably was hunting for more candy.