Occupational Therapy

One of the biggest (most awesome) things about my new work schedule is that it offers a lot more flexibility and I can do so much more for Will - one of those being occupational therapy.

We started working with an OT specialist, Ms. JoAnn the last week of February, so about a month now. Wow! What a difference a month makes.

Part of the way Leigh's disease affects Will is with extremely low muscle tone - all over his body. Legs, mouth, hands etc. Anywhere you'd have a muscle it's affected. His hand strength is very low and that makes tracing, writing, drawing, coloring etc pretty difficult and tiring for him. Oftentimes he just stops mid-way through a project.

People use OT for all different reasons, previously we worked with an OT, Ms. Risa, through ECI on chewing and feeding problems. Now, we're focusing on improving hand and palm strength for Will. The goal is to get his hands stronger so he is more successful with fine motor skills, finger manipulation etc.

Some of the activities he has done with Ms. JoAnn includes digging beads out of putty, stencils, drawing lines, using tweezers to pick up small items, playing tug of war, etc. We've been working two days a week (Monday and Tuesday) for about 45 minutes each time.

Not only is Ms. JoAnn AWESOME, but Will is showing major progress. He can now cut with scissors and best of all is taking a much more active and engaged role in the classroom. He is asking for new work, new lessons and just seems so much more confident in himself. He's gaining more independence and we're encouraging that in all aspects right now.

Of course when he's tired and pooped at the end of the day, the independence seems to fade quickly, but I'm still really proud of him. Will continues to surprise us with his determination and ability. I love seeing the look on his face after he has cut paper (on the line) all by himself. He is so focused while working, then you can see the sense of accomplishment when he's done.

I could go on for a while about OT and how well he is doing, but I will just post some pictures.

The face "snarl" of concentration.

 

 Ms. JoAnn also uses Kinesio tape to help strengthen his arms and hands. You can see he chose pink for one arm and blue for the other arm... We call these his special spider man tape when his friends at school ask. Sometimes they are curious about the special stuff Will is working on.

Will was able to string seven beads on a pipe cleaner. A recent class art project was making a peace sign by stringing beads on a pipe cleaner. He seemed to be able to do the project even better than usual. His teachers also have reported an increase in his ability, desire and stamina to complete projects.

TED Talk and Parenting "Advice"

I'm very behind on blogging, but wanted to share two links today...

A TED talk by the director of the NIH, found this courtesy of UMDF. Interesting view and talk about drug cycles, how long it takes and the urgency and need.
http://www.ted.com/talks/francis_collins_we_need_better_drugs_now.html

"Today we know the molecular cause of 4,000 diseases, but treatments are available for only 250 of them. So what’s taking so long? Geneticist and physician Francis Collins explains why systematic drug discovery is imperative, even for rare and complex diseases, and offers a few solutions -- like teaching old drugs new tricks.
    
Francis Collins is the Director of the National Institutes of Health and was a key player in the completion of the Human Genome Project. Full bio » "

I did find it laughable when he was talking about whole genome sequencing and how it's gone from a 100,000 cost to a $10,000. So many families who are looking for answers for their child simply can't afford that, on top of medical bills and it's a battle to have insurance even consider it.

Somewhere about minute 8, the whole talk becomes clear as mud.

This other link is the exact opposite...
Parenting a Child with No Future

http://www.cnn.com/2013/03/27/living/parenting-emily-rapp/index.html?hpt=hp_c3

"What does being a mother mean when your baby is dying? How do you parent a child with no future? These questions needle the reader throughout Emily Rapp's moving and beautiful new book, "The Still Point of the Turning World."

 

Not a book I'm ready to handle reading yet, or maybe never, but it was so insightful and really grasped the way I feel. I remember I was at a dinner thing a few weeks ago around a big table of people I really like, two of my friends were talking about "THE" school, sports and other extracurricular endeavors etc for their totally awesome and cute kids. I found myself growing angry, then jealous and finally relieved that I have a kid I can just love without fear of how they will be "when they grow up." I can worry and live in the moment with Will.

 

I will deal with not whether or not Will is at THE best school, sports team or whatever, but rather enjoy every moment of where he is and whatever he is doing to the best of his ability. Don't get me wrong, I am totally going to set Will and any other kids we have up for success with THE right stuff for them, but the difference for me is I will not and cannot agonize over it. I just want to live in the moment of happiness with them. So much easier said than done, but this article really captured the essence of all those emotions.

 

Happy Easter. Sneak peak of all the blogging that I'm behind on... my little bunny at school during the Egg Hunt.

 

 

EPI-743 conference call scheduled

Conference Call with Edison for those who are interested in EPI-743 has been scheduled.
Friday, April 5
Noon eastern time/9 am Pacific

More details:
An update from Edison Pharma on the Development of the EPI-743

Join us for a very important discussion with leaders from Edison Pharma about the EPI-743
clinical trial for children with Leigh Syndrome.

Topics for this call include:

1. Status on EPI-743 clinical development
2. Status on EPI-743 US clinical trials
3. Status on EPI-743 European clinical trials

Q&A opportunity included in this important discussion. Parents, patients and families - please join us!


To join the online event-------------------------------------------------------
Go to : https://umdf.webex.com/umdf/onstage/g.php?d=667321101&t=a
Fill in your name/email
Click JOIN NOW

To hear the audio portion, do the following:
Call-in toll number (US/Canada):1-650-479-3207
Global call-in numbers:https://umdf.webex.com/umdf/globalcallin.php?serviceType=EC&ED=105951307&tollFree=0

Access code: 667 321 101
You will be given an “Attendee ID” to use and you will be placed into conference.

-------------------------------------------------------
To join the teleconference only
-------------------------------------------------------
To hear the audio portion, do the following:
Call-in toll number (US/Canada):1-650-479-3207
Global call-in numbers:https://umdf.webex.com/umdf/globalcallin.php?serviceType=EC&ED=105951307&tollFree=0
Access code: 667 321 101
You will be given an “Attendee ID” to use and you will be placed into conference.


Please send questions in advance to info@mitoaction.org or connect@umdf.org

Mighty Mito Mom's

Sometimes I am still amazed at this new network of people I have met and grown to care about - many without ever physically meeting.

One fellow mito mom and I started talking at least a year ago - comparing notes and supporting each other. Her daughter is a teenager. Recently this special person sent me the book - "Advice on Love and Life from Dear Sugar"

I was able to start reading it the other weekend during a college friends girls trip to the lake for some rest and relaxation (which I really enjoyed!) It's a collection of "dear Abby" type columns, but about some serious crazy stuff.

I realized I couldn't read it in one sitting, but rather have enjoyed reading one or two in the evening and thinking about what it means or how it could apply to our lives.

I highly recommend the book - no matter what your life challenge is, the auther Cheryl Strayed aka Sugar, has a sharp sense of humor, quick to the point and just has a great perspective.

Thank you to my east coast mito mom for your support and generosity - I will be paying it forward to another mighty mito mom just as soon as I'm done reading!

UMDF Houston Family Day at the Zoo

Anyone and everyone is welcome to join!

Join us for UMDF Houston Family Day at the Zoo!Sunday, March 24th, 2013
9:00 AM to 7:00 PM
Houston Zoo
6200 Hermann Park Drive
Houston, TX 77030

www.houstonzoo.com
Ticket Information
We are offering a limited number of free tickets to mito patients and caregivers. You may also purchase discounted tickets for other family and friends in advance by March 20. Go to http://secure.umdf.org/HoustonZooDay to RSVP and reserve/purchase tickets.

If you are member of the Houston Zoo, active military and their families, recieve WIC or in the Lone Star Access Program free tickets are available from the zoo. Tickets may be also purchased at the gate for regular price on the day of the event. For additional zoo ticket information click here.

We encourage everyone who is planning to attend to register so that we know how many people will attend. You can register as well as reserve/purchase tickets at http://secure.umdf.org/HoustonZooDay!

 We will meet at the front entrance of the zoo between 9 and 9:15 am for distribution of reserved tickets and then proceed toward the Children’s Zoo to meet at the Pavilion reserved for our use from 9:30 -11:30 AM. If you are unable to meet at the gate between 9:00 -9:15 AM, please email umdf.houston.connections@gmail.com to arrange for an alternate time. 

 Wheelchairs, scooters and wagons can be rented from guest services if needed. Families may bring a picnic lunch or purchase food at the zoo.

Hope you are able to join us for a fun day!

Documentary: Not a Statistic

http://www.wkrn.com/story/21636423/documentary-follows-brentwood-familys-health-woes

Documentary follows 3-year-old with mitochondrial disease
Posted: Mar 13, 2013 10:01 PM CDT
By Joe Avary, Video Journalist - bio | email

BRENTWOOD, Tenn. -
A Brentwood family hopes to bring awareness to a relatively unknown condition on the silver screen.
Michael and Ellen Hollis have a rambunctious 3-year-old named Hunt.

Hunt, however, isn't like most 3-year-olds. He has mitochondrial disease.

Mitochondria are responsible for creating the energy needed by the body to sustain life and support growth.

Mitochondrial disease is a genetic disorder where the mitochondria fail to produce enough energy for cell or organ function.

Commonly referred to as "mito," the disease primarily affects children and can cause several physical and developmental problems.

Hunt was diagnosed with "mito" in February 2011.

"When Hunt was diagnosed with mitochondrial disease, we had never heard of that before and we didn't know what that meant," said Ellen.

Shortly after diagnosis, the Hollis family was approached by University of Alabama film student Shelby Hadden. Hadden wanted to spotlight Hunt and his health.

"If we could do this documentary and raise awareness for mitochondrial disease and educate people about the disease, then it was definitely something we wanted to do," Ellen said.

Hadden spent weeks with the Hunt family, chronicling everything.

"She went to every therapy appointment, doctors visit. She even spent the night with us one night," Ellen recalled.

"I finished with about 37 hours of footage," Hadden said.

The footage became a 36 minute documentary film titled "Not a Statistic."

Hadden and the Hunt family hope that by exposing day-to-day living with Mitochondrial Disease, they can help others.

"This could be anybody's story that deals with anything that's difficult, but it's just what you do with that situation," said Ellen.

"Not a Statistic" premieres Thursday night at Franklin Theatre. The screening is sold out.

The trailer for the documentary can be viewed on Vimeo. http://vimeo.com/57018762

To learn more about Mitochondrial Disease, visit the United Mitochondrial Disease Foundation Web site.

__
What an amazing gift to this family. I sat here crying watching the trailer - I hope this helps spread more awareness and I hope to one day see the documentary.

Since Will was diagnosed with Leigh's I've tried to research the basic stuff - why, when, cure, when, why...

It seems like mitochondrial diseases are "all the rage" now and seem to have been for the past five years or so - the technology, science and interest in how our bodies mitochondria work or don't work have become "game changer" in the understanding of many diseases.

Sometimes I call it in my head an epidemic. It's not really by the definition of an epidemic, but it just feels that way after being thrust into this mito world. You hear and learn more and more about mito when we had never heard of it before.

I'm 32 and if you rewind to the HIV/AIDs epidemic, that happened in some of my very formative years. It was something I would hear about on the news - not the Internet, being online wasn't widespread to teenagers in the 80s and 90s. (we played outside haha)

It feels like the mitochondrial disease world is in it's infancy, just like HIV/AIDs 30+ years ago. Now, we see HIV/AIDs cured in a child - http://www.cnn.com/2013/03/03/health/hiv-toddler-cured/index.html?hpt=us_c2

After I saw that, my first thought was it's happening - a cure arrived for something that at one time, just a mere 30 years ago - was thought to be a death sentence.

I hope and pray that the mito research community is able to use the new science and technology out there to speed up this process and maybe, just maybe one day a cure will happen in the mito community.

Sorry for my rambling thoughts this Monday morning....

New Boots!

Ahh! After four pairs of leg braces, we finally have it figured out after a series of problems and issues with other orthodic companies and just in general frustrations.

Will got a new pair of "boots" last week and we haven't had any problems. I can't say enough about Hope Orthodics. They are warm, awesome people who have a background as physical therapists, so they are really trying to give Will the most stability without taking away and movement.

Playing in the "rodeo" room waiting for new boots!

The old boots.

The new boots! He picked the same pattern, just has brighter colors. They have a binder full of choices so I helped him narrow it down to two options - this one and a Longhorn pattern. Yes, I did offer the Aggie pattern as well, but since being brainwashed by his dad, we know that's not an option.

Playing on the play structure post-new boots. Seems to be going well.

I cleaned out Will's closet the other day and decided to walk down memory lane for a minute.

First pair (on the left): Started walking in these boots! A day we worked so so hard to get to and likely it was in part because Will was so determined to get around where he wanted to get to.  

Second pair: Will was doing so awesome we decided to experiment with a lower calf height and Will's first PT, Mr George who I still miss, got out his tool box and cut the back's down. Will thought it was awesome.

Third pair: Will did good with the lower boots, but got sick in Feb. 2012 and March 2012 and the back-to-back illnesses just didn't bode well for his body.

Fourth pair: So on to the fourth pair, we added a lot more stability and support for Will and that has seemed to be the best choice.

Fifth pair: So here we are now! Five pairs of boots since July 2011.

Luckily (??)  as you can see in the photo, we do not incorporate a lot of shoe options into Will's wardrobe. It seems to be easier for Will to only have to adjust to one shoe instead of a lot of different shoes. Plus, the boot only fits into certain ones with wide, big open inserts.

The day we got his current pair of shoes, we got great feedback from his teachers on how much easier it was to put them on. They are so easy, we just bought a new pair of his old shoes. So, new boots and "new" shoes.