Little's Life

Little's Life

Wednesday, March 28, 2012

Building a Bridge

So as you should all know by now, there is no cure for Duchenne Muscular Dystrophy.  There aren't even any treatments to slow down the pace or severity of the muscle degeneration.  Sure, I can pump my son full of steroids and turn him into a Moon Man in the hopes of keeping him on his feet for an extra year or so, but to me the risks outweigh the benefits (glaucoma, cataracts, diabetes, osteoporosis, mood swings - cause yeah, I want a raging preteen to mow me down in his power chair when I forget to buy Doritos), and then you still end up in the same place a few years later as those who didn't use them.  *Please don't be offended if you've chosen to put your son on Prednisone, I am not judging you.  You have to do what you feel is right for your son and family, this is a personal decision that I know you did not take lightly.  But for me, Mister, and Little - corticosteroids are off the table.*  

So that leaves us with hope and prayer.  Hope, as in "Man I hope those scientists figure out a way to fool my son's body into rebuilding muscle with some new drug one day!" and prayer, as in "Lord, I give my son to You.  I am laying him in Your arms to hold, protect, and heal, as You see fit.  If it is in Your will to give those scientists the medicinal answer to this disease, then please, let it be while my son is still young enough and healthy enough to benefit from it.  If not, please let them learn from him in whatever capacity they can, so that they have a better understanding of how to cure the next generation of DMDers and please give me the strength and grace to carry on and to give Andrew the best life I can".   I know that you all have been praying, too, and I am so grateful to all of you.  I read some news yesterday that makes me feel that we've gotten the Lord's attention.

But first, I don't know how many of you are familiar with the inner workings of our DNA, so here's a very brief, very pathetic attempt at a biology/anatomy lesson.
- Inside our DNA are protein coding regions called exons
- these exons transcribe our protiens (including dystrophyn, the protien that Andrew lacks) and send them on thier merry way through our body via messenger RNS (mRNA).
-In DMD boys, somewhere along the exon train, is a missing or broken information track
-In the spot where the track is cracked (how many of you just heard Whitney Houston's voice say "Crack is whack!" in your heads?  Too soon?) the cars carrying dystrophin wreck or disappear all together.
-The body is left with jumbled mess of dystrophen information that it cannot correct.

Confused?  Here's my explanation in picture form:

A boy without DMD:

Andrew's DNA

Guggenheim, here I come.

Well, a biopharmaceutical company called Prosensa has been working with well known drug company GlaxoSmithKliene (GSK), on a potentially life changing treatment for those with DMD.  The company is working on a therapy called exon skipping.   targeting exon 44.  For those of you who don't remember, Little's deletion is on exon 45.  What Prosensa hopes to do is redirect the dystrophin information from the last exon in the chain with correct dystrophin information directly to the exon after the broken one, skipping over the broken section completely - kind of like building a bridge over the missing or jumbled up exon.  What?  You'd like to see another illustration?  I was hoping you'd ask! Here is what it would look like if it were on Andrew's spot.

Now what would this mean for a boy with DMD?  EVERYTHING.  It is NOT a cure, it is only a treatment, but it would drastically improve the quality and expected life span of the boys who got to use it.  What it would do, is restore some of the dystrophin into these boys' bodies, causing their disease to mimic a less severe form of MD called Becker.  DMD boys would still have the same signs, symptoms, and ambulation loss as before, but at a much slower pace.  They might even get to keep some of their muscle functions their entire lives!  So Andrew wouldn't be walking, but he might be able to hug me, to squeeze my hand, to hold a pen, type on a keyboard, to feed himself.  And as far as life expectancy?  Becker boys live up to twice as long as DMD boys.  So I could possibly keep Andrew into his 40s instead of his 20s.

Prosensa has been working on this therapy by targeting exon 44 and exon 51.  They have developed a compound that will send info from exon 43 to exon 45 or 46 and one from 50 to 52 or 53.  Andrew's deletion is on exon 45.  So we have been told that there is no guarantee that the drug for Exon 44 (PRO044) would work for Andrew, but there was a chance that the "bridge" would extend over exon 45.

Well Prosensa just put out a statement outlining their plans for the rest of this year.  They've added 4 more exons they will be targeting in the coming years.  At the top of that list, with plans to begin trials later this year?   EXON 45!!!!!!!!!  ANDREW'S EXON!!!!!!!!!  Now we won't have to just cross our fingers that PRO044 will cover 45, we'll have an actual exon 45 specific drug.  Praise God!  He is answering our prayers!  Exon 45 was not on Prosensa's list (at least not publicly) when Andrew was diagnosed, but after thousands of prayers sent up over the past 6 months, here it is.  You can't tell me that's a coincidence.  I won't believe you. My faith is that strong.  I know this is God taking care of us (and all DMD boys, bc these trials are just the gateway to get every exon covered, not just the 6 or so that are in the works today).

Now I know there are some of you thinking to yourselves, "Slow down, Katherine, it's just a clinical trial - anything can go wrong.  It might not work, it might take 10 years to become a readily available drug".  And I say to you, "Yes, you are right.  All that might happen.  But I've read the research on PRO44 and PRO051 and I get to be excited.  Even if it takes 10 years for PRO045 to be available, Andrew will still be young enough and healthy enough to benefit from it - REALLY benefit from it."

So again, than you thank you thank you from the bottom of my heart for praying for Andrew.  I ask that you please keep them coming - God is listening and responding!!!!!!!!!!!!

"And all things you ask in prayer, believing, you shall receive"  Matthew 21:22

I have learned more about exon skipping and made a few corrections in another post: part 2

Saturday, March 24, 2012

I Scream, You Scream,

we all scream for....................ravioli?

Translation: "Camera.  Take picture. Ravioli"

And the other super cute thing I caught him saying this week - you may have to turn your speakers up a bit.

See Erica and Linda?  I told you I would get him ready to be MDA's spokes-kid!

Friday, March 16, 2012

Who says all teenagers are selfish?

Oh, no one says that?  Never mind then.

I met a group of talented teenagers from Montgomery Central High School last night who had gathered together to raise money for MDA on behalf of Andrew and Little's League.  How unselfish is that?!  The school's National Honor Honor Society puts together a talent show every year where the proceeds go to charity.

After reading about Andrew, one of the school's english teachers, Maggie, suggested to the group that this year's charity be the Muscular Dystrophy Association.  I am so honored that they agreed.  You have to know that I am always shocked when people step out of their way for me.  I don't think it will ever make sense to me when people give of their time/energy/hearts/whatever to me (or Andrew).  I feel like that's what I'm supposed to do for you - so when it is the other way around, it feels like the Twilight Zone.  It feels undeserved.  I don't ever feel entitled to any sort of generosity because I'm not doing anything special or out of the ordinary.  I'm just so out of my element when the giving tables are turned.  But do I ever appreciate it!  You just have no way of knowing how deeply humbled and thankful I am that you chose to donate to an organization that is trying to save Andrew's life.

Here's the piece I wrote for the program.  You can click on it to make it bigger if you'd like to read it.

Little and I arrived with just a minute or two to spare and were ushered down front so we could watch the show up close.  I brought Little 2 different snacks, a sippy, and some quiet toys - I've been involved in school talent shows before and I know that they can stretch on and get a bit tedious when you are on your 4th rendition of a Whitney Houston ballad - and settled in for whatever was about to pop up on stage.  I am happy to report though, that none of the distractions were needed and no off key versions of "I Believe the Children are our Future" were shrieked at us through a microphone.  The acts were great!  And there were only 10 of them!  Maggie should teach seminars on how to run a talent show because it was just the right length and however she ran her audition process was spot on, because everyone who performed was entertaining.  I didn't envy the judges their job of picking the winners.

First up was Rust and a guitar only version of Ozzy's "Crazy Train".  I (and probably most of the audience) had to stop myself from standing up and shouting "Aye aye aye" at the appropriate time.  Or is it "I I I"?  Curious.  Anyway, very talented pickers.  I grew up around guitars and I can assure you that those boys have talent.

Sorry about the fuzzy photos - I took them with my lo-tech cell phone.

Second up was LC who sang "You're Gonna Love Me" from the "Dream Girls" soundtrack.  I thought she looked beautiful and has a voice that might get a chair to spin around on The Voice one day.

Then was the first of 2 piano players, Jill.  She was fantastic and rightfully took 2nd place.

Then we had Vanessa, who sang "All of Me" by Evanescence.  Very Emo.

Jordon played.........I have no idea what song on the guitar, but he was great!  :)

And here is a very blurry Alex, hoofing it around the stage.  Don't worry, there's a better picture of her standing still in a minute.  Alex took 3rd place.

And then we had Chris and Matthew with my personal favorite act of the night.  You can hear how much I and the audience laughed on the video.  I had tears in my eyes from how funny it was.  I bet you can figure out what they were doing before you ever hit play.

Oh, I do love some Napolean Dynamite. I'm guessing the judges hadn't ever seen it or these 2 would have placed.

Our second piano player of the night was Cheyenne (love her name).  My dad would have liked her because she played "Beautiful Dreamer", a song my dad has played on the piano more times than I can count.

Emily, Lexi, and Ryan will no doubt grace a coffee house stage near you in the future, if they aren't doing so already.  They have some serious potential and were so comfortable on stage.  If they were nervous at all, they sure didn't show it.  

The final entry was a dancing duo who took home 1st place for the second year in a row - Bailey and Derrion Jeans..........oooh wait, that's not his last name, those are Beyonce's pants.  B&D were fantastic.  I don't know if they choreographed it themselves or not but it was very clever the way they made their bodies seem to flow with the waves of the music.

Right before the winners were announced, this little cutie named.........ummm.........phhhhh......drat.  Well, I'll call her Princess.  So Princess called me and Andrew up on stage and presented us with a present for Andrew and big fat check for MDA.  I've always wanted to get one of those huge checks, lol.  I bet this is only the 1st of many more to come over the years of fundraising we have ahead of us.  At the time the check was written out, the National Honor Society had received $674.00 in donations but by the end of the night, that number had jumped to $756.00!!!!!!!!  I will hand that money over to the Nashville MDA next Saturday at the Music City MDA Muscle Walk 2012.  So in only roughly 2 hours, these kids raised over half of what it took me weeks to get for last week's Muscle Walk in Little Rock!!  Little's League is doing some serious damage to Duchenne with all the research hours we are funding!  Oh, and Princess, it's doo-shen, but it was super cute to hear you try to pronounce it without ever hearing it.  I thought it was doo-shayne until I heard Little's neurologist pronounce it.

All of the contestants waiting for the results

Bailey and Derrion, the winners

Me and Little with 3 of the 5 winners (Jill had already taken off).  Bailey was a sweetie.  Really they all were - one kid even carried my super huge check, diaper bag, and other loot out to my car for me!

with Maggie and her family

Little Bit decided to explore the cafeteria.  He was much more into this event than Saturday's.  I think he just wanted to go home.  Note to self, 2.5 weeks is too long for a Terrible Two to be away from his dad/crib/toys/home.

Once we got home, Andrew opened his present while snacking on some nuggets.

 How much do you love  your truck, Andrew?
Thiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiis much!

So an enormous THANK YOU to Maggie and her family, the members of MCHS NHS and to all the students and faculty who lent their time and talent to this show in support of Andrew and Duchenne research.  You guys really warmed my heart and impressed me both with your talent and your desire to help find a cure for DMD.

I caught Little dragging around the check this morning.

I guess he thought there was a bank down the hall.

And this post's Little's League photo, the Sampsons!  They came to the show all decked out in their Little's League gear - don't they look fantastic?!?!  

Wednesday, March 14, 2012

Central Arkansas MDA Muscle Walk 2012

As you are all painfully aware - Saturday was the Central Arkansas MDA Muscle Walk.  My goal was to raise 500 measly little ole dollars for Duchenne but we met that goal with 4 days to spare.  So I upped it to $1000..........and ya'll just kept giving!  Our total as of this morning (yes, it keeps rising as after event donations are still being made *yaaaaay*) is $1424!!!!!!!!!!!!!!  Everyone who donated just blew me away!  I just can't thank you all enough!

Me and Andrew ready to go! (Mister had to work)

me and my sis

The 23 members of Little's League who were able to attend:  Susan and Seth Mulhearn and kids, Jan Eoff, Jack Johnson, my dad, sister, sister's fiance Blaine and his son Carson, mother in law and my nephew Palmer, my mom, Ashley Mears, the Gentry family, and me and Andrew.

Make a muscle, make a difference!

Making muscles with the Gentrys

Andrew and Palmer, his cousin who he's only met twice now.  We're so glad he came!

It was a little overwhelming for a 2 yr old.

My college roommate!

This lady has been one of my best friends for over 15 years. So glad you came, Su!

Team captains

Off we go on our victory lap!

So then, you don't want a pony for your birthday?

love connection?

Walking for pizza!

with Erica Dierich, the lady in charge at Little Rock MDA

I wish I could thank you all personally on here, but there are just too many of you, so I'll just single out the a few of you whom I want to give special recognition to (in no order):

*  KARI BECKHAM - joined our team at the end of the week and brought in more money than any other team member!


* GENTRY FAMILY - for all your support!

* JENNIFER HODGES - for Harper Jubilee (see last blog)

* PAM HARKEY - decided to donate to MDA Ft Smith on behalf of Little's League (and she's doing awesome).

* THE SWANSON FAMILY - they became Little's League Seattle and raised over $300 for MDA's Duchenne Initiative!  Thank you so much LL Seattle!

There are still plenty of cities with MDA Muscle Walks still to come - want to start a Little's League there?  I'd be honored if any of you would like to walk for Andrew and give in our team's name!  We officially registered a Little's League in Seattle, Little Rock & Nashville, and we have people participating in Ft Smith, Pensacola, & Philadelphia that haven't registered a team name yet but are more than welcome to use Little's League.  Just let me know if you decide to do that so I can spread the word and help you fundraise online!

Really from the bottom of my heart, THANK YOU to each and every person who gave to MDA via Little's League.

Now time to go get that money for Music City MDA Muscle Walk 2012 next Saturday!  Don't worry, I'm fund raising locally with bracelet sales and a talent show put on by the local high schools so I won't be all in your Facebook faces like I have been the past few weeks.  :)  But if you want to give, click here!

Did you buy a Little's League shirt?  Then let's see it!  E-mail me your photo in your tee to, get it to me on facebook (link to the right), or paste it below in the comment section.  Below are Little's League members Ashley and Chloe - don't they look great?!