Friday, July 27, 2012

In the Blink of an Eye

Things really can change in the blink of an eye in Mitoland. About a week ago, Will randomly started stuttering. It came out of nowhere. He hasn’t been sick, nothing.
Of course I have tried to connect about 100 things with the onset of this stuttering… I was switching up stuff with the Miralax (BTW, that didn’t work, he needs to stay on it), he had two BM accidents, he’s been sleeping later in the morning, it’s hot… you name it and I’ve tried to correlate it.
I have noticed it’s mostly around vowel sounds like “I” or “Elmo” and it’s usually at the beginning of a phrase or sentence, not necessarily in the middle. But, it has happened in the middle, just very rare.
I can’t correlate it yet to being tired, hungry or overstimulated.
I’m going to keep a diary this weekend and try to record the time, the letters and where it is in the sentence to try and make some sense of this.
From the research I started this week, it appears that there are two types of stuttering: Developmental and Neurological. (Duh). This seems to over a good overview of the differences.
I thought this was very helpful to describe symptoms between the two. Some of the patterns that set the two apart include:
  • Neurogenic stuttering may occur at any point in the production of a word, rather than primarily at the beginning, as is common with developmental stuttering.
  • Neurogenic stuttering often occurs on any type or class of word anywhere in a sentence rather than being linked to content words such as nouns, verbs, adjectives and adverbs.
  • Neurogenic stuttering may occur in any type of vocal behavior, including singing and repeating well-learned passages, such as the pledge of allegiance. The disfluencies may occur with equal frequency in any type of a speaking situation.
  • Neurogenic stuttering is often not alleviated by the same conditions that significantly lessen developmental stuttering. These include choral reading, singing, adaptation (repeated oral reading of the same passage) or speaking while under auditory masking or delayed auditory feedback.
So, this is also why I’m going to keep a diary this weekend to see if I can discern anything. Likely, we’re going to add speech therapy into the mix asap. I firmly believe in early intervention, so hopefully this will help curb it.
You know to the average eye, Will looks like a normal little guy. Maybe that has made this whole Leighs/mito “easier” because he’s not in a wheelchair or showing obvious signs of other things. Maybe that’s why this stuttering thing is hitting me hard. It’s yet another outward display and sign that he really is sick and that we’re going to lose him.
To be constantly reminded of his physical limitations is one thing and we’ve adjusted. Now, it’s a constant verbal reminder of other limitations. His teacher told me that he was trying to say the name of one of his many girlfriends, Ella, and he simply couldn’t get it out. You could tell he was frustrated.
I had just, literally in the past month, finally gotten to a really good place. Neil and I have lost about 8 pounds (each of us), and I felt like we were in a good groove. My mental outlook has changed literally overnight. Hopefully the weight loss will continue, but Will’s health is just so fragile. It’s easy to forget when things are going so well.
Maybe things will improve, maybe they won’t. At least I’ve gotten to hear his beautiful voice say I love you Mommy and see him walk and enjoy life. That’s a gift I can really focus on enjoying today.

Monday, July 23, 2012

Medical ID bracelet

I am going to get Will a medical ID bracelet so that if we are in a car wreck or something weird happens, the EMTs know he is medically fragile.

I'm looking for suggestions on what to put on the bracelet....
His name.
Mitochondrial disease

What else mito caregivers? What do you think would be helpful for a first responder to know?

A couple of thoughts I had:
"D10 asap"
"Child Memorial Hermann TMC"
his doctors phone number

He is not technically allergic to anything, but there is quite a LONG list of things they should avoid.

Some of these you can write on them and others you can get engraved. I'm thinking I will get the kind that you write on (shown below) so that we can update as needed.

Any suggestions from others who have experience with these?

I realize I could probably figure this out myself, but for some reason I'm having a hard time deciding.

I also saw these for the car seat and thought, that's pretty cool - even for those who are not medically fragile, but are perhaps in a wreck and would be good for the EMTs to know.

**UPDATE** I got this link from a fellow Mito Mom (Thanks Missy!) and I think I'm going to use this. - it's an organization that has a medic bracelet, but also has a phone number for medics to call 24/7 to get details on how to help the child. I also plan on including a few extra details on the bracelet so that the EMTs are not waiting on a phone call. They charge you an annual fee to keep all your records on file - $20 bucks is worth it to me.

I'm also going to do the seatbelt thing and just put this Medic Alert info on the paper inside it.

If anyone knows any EMTs, I'd be curious to hear their comments on something like this - does it really help? Do they even recognize it?

Thanks everyone for the input.

Friday, July 20, 2012

Good news!

During our extended hospital stay in March a lot of the blood work that was done showed Will has a low results for his immune system (shocker...). Dr. Pacheco (immunologist) and Dr. Koenig recommended we consider doing a pneumovax. Here is some more info on the vaccine

So, we let Will recover from the hospital visit, did round two of ear tubes in April (he was hospitalized in Feb. for ear infections as well), then did the vaccine in May. Six weeks after you receive the shot, you go back for blood work to test various levels of your immune system.

Today I found out all his labs came back all normal! Apparently he responded really well to the vaccine. Of course, I don't always trust what the nurse calls normal, so I have asked for his pre-vaccine labs and post lab reports.

I also asked for the first available appointment with Dr. Pachecoto discuss a road map for the future and to better understand what "normal" labs means. Immunology is a path that's so important to keeping Will healthy, but I don't feel like I have a good grip on how the system functions and what are the most important things to consider. I learned a lot about this at the UMDF conference, but now have a lot more questions.

So, we have an appointment set for Oct. 17 - yup, that's what you get for "first available" with a doctor that only sees patients one day a week. Good thing his labs were normal otherwise the nurse might not have appreciated the  weekly calls from me asking for any cancellations.

We're heading to the circus this weekend, which Will is really excited about. His favorite show continues to be the big purple dinosaur, Barney, who I love to hate. They recently had a segment where they go to the Circus, but one of the other equally annoying animals, BJ, "lost his knapsack and the tickets were in it" - so Will wants to make sure I don't lose the tickets. I just replied back. Ok. I mean what the heck do you say to that one? I had a good laugh.

Happy Friday!

If I had to guess, Will is hoping to see an elephant at the Circus. There of course is a Barney song about elephants too...

Pics from our zoo trip

The old classic "sunglasses on upside down" look

Thursday, July 5, 2012

Welcome to Holland - July 5 Marks One Year

July 5, 2011 - We started this journey in Mitoland....

By Emily Perl Kingsley:

I am often asked to describe
the experience of raising a child with a disability
to try to help people who have not shared
that unique experience to understand it,
to imagine how it would feel.

It's like this......
When you're going to have a baby,
it's like planning a fabulous vacation trip - to Italy.
You buy a bunch of guide books and make your wonderful plans.
The Coliseum. The Michelangelo David. The gondolas in Venice.
You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives.
You pack your bags and off you go.
Several hours later, the plane lands.
The stewardess comes in and says,
"Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland??
I signed up for Italy! I'm supposed to be in Italy.
All my life I've dreamed of going to Italy."

But there's been a change in the flight plan.
They've landed in Holland and there you must stay.

The important thing is that they haven't taken you
to a horrible, disgusting, filthy place,
full of pestilence, famine and disease.
It's just a different place.

So you must go out and buy new guide books.
And you must learn a whole new language.
And you will meet a whole new group of people
you would never have met.

It's just a different place.
It's slower-paced than Italy, less flashy than Italy.
But after you've been there for a while
and you catch your breath, you look around....
and you begin to notice that Holland has windmills....
and Holland has tulips.
Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy...
and they're all bragging about
what a wonderful time they had there.
And for the rest of your life, you will say
"Yes, that's where I was supposed to go.
That's what I had planned.
And the pain of that will never, ever, ever, ever go away...
because the loss of that dream is a very very significant loss.

But... if you spend your life
mourning the fact that you didn't get to Italy,
you may never be free to
enjoy the very special, the very lovely things ...
about Holland.

- - - -

Today, July 5, 2012, marks one year of diagnosis of Leigh’s disease for our family. Slowly, we have fumbled our way to Holland.
A year ago this morning, Neil and I sat listening to Dr. Koenig tell us the ugliest most gut wrenching, shocking news that no one should ever hear. We lived in a fog for many many weeks and months, slipping in and out of shock, but we kept going because of Will and in spite of ourselves. Every morning for at least a month I woke up thinking I had a bad dream and then realize it was true, cry, then live the rest of the day thinking how surreal it feels.
I suppose I could dwell on a lot of things today, and likely I will. But for now, I just want to say thank you to our family and friends who have supported us this past year – with tears and laughter. I know God has been watching over us, even though I’m so angry with him I can barely handle it.
Right now, I try to view these years as what might be the happiest time of our lives. We have a beautiful, wonderful son who is very much alive. We have real hope for giving Will the gift of a brother or sister or both. Neil and I have developed a wordless language that has made our marriage even stronger. Our families and friends have often lifted us up in our ugliest hours. Neil’s company is a thriving business. I was able to reduce my work week to do more for Will and our family. The list could go on for days.
So, thank you family and friends and most of all, thank you to Will.

And now, a walk down memory lane!

First Bath

Month 1

Month 3

Month 5

Pumpkin patch

Month 8

Month 8

First Christmas! Sick with RSV so no Santa pic.


Happy Birthday Will - 1 year old

Month 12 Trying to walk....

Month 13 - the old "w" sit that is a no-no

Month 15 - Started therapy and got some boots

Month 16: The ol' SPIO suit and still trying to learn to walk.

Month 16: Crawling around on one of my birthday gifts.

Happy Halloween  ARR matey


Christmas - Started walking Christmas day!

The "Fonz" lean back.

Christmas presents
Month 22 - Forward facing in the car seat

Month 23 - still needs some help / nervous mom while walking on the concrete

Can sit to stand quite easily now.

Mopping up.

Month 24

Happy second birthday!

Month 26

Month 27

July 5, 2011 - We all wanted to hide in a bag around this time... Diagnosed with Mito.

September 2011: Trip to Stanford for EPI-743 trial.

Pumpkin patch - yup, that's Houston for you, shorts in October.

Halloween 2011

Christmas, 2011

Helping dad out around the tree

Hay ride December 2011

Christmas Sing-a-long at school. My little Rudolph is concentrating hard.

Packing for our week 13 trip back to Stanford for the drug trial

The bag of empty EPI!

Eating chips!! And NOT choking. A miracle.

Breakfast with Santa at the Aquarium.

January 2012 - "I just climbing climbing" - with mom or dad there to catch him.

Helping dad build my new "big boy" furniture

Chillin' with my girlfriend, Caroline

Smores for everyone!

UMDF Energy For Life walk - raised more than $23,000 for research to a cure!

Trying to get a family photo pre-walk on a very rainy day.

At the zoo - first trip!

"Football player" hat, gloves and ball and riding a bike. Not sure how all that works really.

Going to his first theater performance with friends from school.

Pre-hair cut mohawk


Puppy dog walk in gymnastics

High fives with Mr. Glass

Happy Easter! Did an awesome job gather eggs this year.

April 2012 ECI Graduation

With Mr. George

Birthday boy! April 2012 / 3 years old.

Dress up

Trying on some new boots.

Working on his pinning at school

June 2012 A frozen yogurt mess!

July 4, 2012 - Driving the boat with daddy-o

Watching the water.

Cheers to the next however many months, years ahead of us with my little Mito Warrior.