Little's Life

Little's Life

Saturday, April 28, 2012

Building a Bridge (part 2)

I've learned more about exon skipping and which one will be right for Little.  Turns out skipping 45 is NOT the way to go after all.  Why it didn't occur to me that it would be pointless to skip an exon that was already deleted is beyond me.  I had the right idea with my sweet sweet drawings, by building a bridge over the missing chunk, but I need to elongate that bridge a little.  I was pointed to a website by another DMD mom, Stacy, that gave me a better understanding of how the exons communicate and how to know which ones to target with the drug therapy.  Thank you, Stacy!  I took that knowledge with me to the meeting with Mr. Mendell at NCH last week and talked with him further and he confirmed that I have the right grasp on it.

So here are some new (boring) diagrams, courtesy of (and by that, I mean plagiarized from) the Prosensa website.

This first one is a mock up of all of the exons that carry dystrophin through the body.   The exons have been given shapes as a way of illustrating which exons communicate with which other exons.  Check out the way the shapes are angled.  Like a jigsaw puzzle, only the pieces that match into each other fit together.  Get it?  Check out #s 1,2,&3 - see how 1 fits into 2 and 2 fits into 3?  Well info can flow from 1 to 2, then 2 to 3.  Check out #s 17 & 18.  See how they match end to end?  That's how the communication of dystrophin information flows all the way from 1 to 79 in you and me (people without DMD)

When one of those pieces is missing and the 2 exons on either side of the hole don't match up, you get a boy like Little.  This picture is Prosensa's version of the train falling through the hole in the track.  Mine had a little screaming stick figure in the front of the train as it plummeted into the darkness....this one is just more blocks. pbbbbbbbbbbbt

See how with exon 45 gone, 44 and 46 can't communicate?  This is called an out of frame deletion on exon 45, the clinical term for Andrew's specific mutation.

Now, check out the shapes of the exons nearby.  What needs to happen now, is for that bridge to be built from one over to the next one with matching parts.  Look at the end of  43.  It matches exactly to 46.  So if we skip exon 44, we can connect 43 to 46 with our little drug bridge.

This is actually fantastic news, bc PRO44 trials have been going on in the UK for a while now and they are already in phase 1 here through Prosensa.  So - just as exciting as when I thought PRO45 was the one we wanted!
And what else is exciting about this?  Check out Little's deletion chart again.  We already saw that 43 and 46 can match up, but look at 44 and 47.  Another match!  So skipping exon 46 and building our bridge from 44 to 47 could also be an option one day!

We're still very much in a good place with waiting on these drugs to become available and I'm still incredibly excited about the new exons that are in the Prosensa/GSK line up.  Bit by bit, God is letting these scientists chip away at Duchenne.  I believe that one day our boys will be living with, not dying from a diagnosis of Duchenne.  One day, a mother will get that phone call from her son's geneticist and he won't be giving her the news with tears streaming down his face and sobs choking his voice.  He'll be able to tell her with a reassuring tone that her son will get better.

This will be it for a week or so, I've got some stuff on my plate that will prevent me from blogging (like my borther's wedding!!!!!!!!!!!!!!!!!!!!!!!!).  But as always, thank you for keeping up with us and we'll be back before you know it.  You can still catch be at in the mean time.

And now it's time for our Little's Leaguer of the week, my 50th subscribed reader, Dannadannadanndannadannadanna ooops, sorry Lady, seem to have gotten a little Hicks stuck on my keyboard.
Danna Gentry!
You have no idea how hard it was not to use a picture of you in your sweet 6th grade side pony tail.

Monday, April 23, 2012

That big scary clown

isn't so scary anymore.  In fact, I'm beginning to like him.

Little and I headed off to Nationwide Children's Hospital in Columbus, OH last week to meet with Dr. Mendell and his team.  Our goal was to get Little into their database for upcoming clinical trials.  Mission accomplished plus he's been enrolled in their continuing research project which means yearly trips back to see them.  That is awesome for 2 reasons: 1.  The research project is covered by the MDA so no matter our insurance situation over the years, we'll have 1 clinic visit each year that includes neurology, pulminology, & cardiology totally taken care of!  2. We have family near NCH so we'll get to take turns seeing all of them!  This trip we got to see Mister's cousins, BJ & Tiffany and their 3 tots (1 of whom we'd never met since he's only 4 months old ~ and gorgeous)

We still have 2 (soon to be 3) of Mister's other cousins nearby and a whole slew of relatives on my mom's side that I've never met.  Side story - when I was about 21, my mom found her bio dad on the internet.  Turns out he's Jewish and that is why I have this crazy rat's nest on my head.  I'm the only one in my family with curly hair and since finding out it is due to Hebrew heritage, I have dubbed it my jewfro. So, some of those long lost relatives live in the Columbus area and hopefully I will be meeting them in the coming years.

We met with 6 different doctors and clinic workers and none of them had anything new to tell me.  But that's what I expected.  I dove into DMD education as soon as it was mentioned as a possible dx for Little so there's not much left for these docs to tell me about short of new treatments in the works.  Ew, Andrew is really screeching from his crib.  Guess nap time is over.  Ok, nuggets and Word World ought to hold him long enough to finish this.  So speaking of new treatments, I did get to learn a little more about exon skipping and which one will work for Little.  Another DMD mom, Stacey found this great website with illustrations that are leaps and bounds past my train scribbles from Building a Bridge and I'll be adding that here soon along with what I learned from Dr Mendell.

We were privileged to stay in the Ronald McDonald House, right across the street from the hospital.  It. Was. Awesome.  Right as we got there, the OSU hockey team arrived with about a hundred stuffed animals for the children in the house to pick from.  Little wasted no time snagging the biggest one and posing for pictures.

Seeing as how those men are Buckeyes, Mister was less than thrilled about this.  Little, however, thought it was fantastic.

R McD House is really an amazing organization.  I only stayed 2 nights and got to have my child with me, but I can see what a huge blessing it must be for parents who are in it for the long haul with critical munchkins.  There are toy rooms on every floor, a library with books the children can keep, 2 laundry rooms, 8 fully functioning kitchens, a computer lab.......and so much more.  Little's favorite room was the elevator, followed closely by the 3rd floor toy room (because it had a Thomas the Train table).  We found this gargantuan in the library:

Plus - R McD House feeds you!  All 3 meals, every day.  They have an incredible team of volunteers!  I will be adding this organization to my list of groups to fund raise for in the near future.

Oh, back up.  On the drive there, I was about 1.5 hrs in (of the nearly 7 hours) and my vision went wonky in my right eye.  Quite a few of you already know where I'm going with this, I bet.  I got a sinking feeling in my stomach and sure enough, about 10 minutes later, my left eye filled with snow and portions of my left wrist and hand went numb.  I started to panic a little.  My chest got tight and I got really hot - I could NOT drive all the way to NCH with a migraine!  I prayed.  Hard.  I straight out begged God to take the impending migraine from me and to not let anything happen that would endanger us on our drive.  And He did.  For the first time ever, my migraine ended with only the aura.  God continues to show me His grace.  I hope that you all take the time to notice what He's doing for you, too, and remember that He is listening and He is ready to take care of you, if you'll only ask.

Another super fun thing that happened last week was the arrival of the book!  Finally, my copy of Saving Our Sons & Daughters II, the book I collaborated on last fall, arrived!

I read the entire thing in one sitting and cried my eyes out.  It's crazy to hear someone else's story and know EXACTLY what they were feeling.  Most of the stories are uplifting and meant to inspire, my tears were just because the emotions related to learning my son has DMD are still very new and raw.  We've only known about this for 6 months.  But the book is for sale and the proceeds for the ones that I sell personally go directly into Little's Medical Fund - there are links here in this post, on my fb page, and on the right hand side of this page.  So go buy it!!!!

Meet today's Little's League team member, Katie!

Monday, April 9, 2012


This is my 100th post.  In less than 3 years, I have barfed my thoughts all over you via blogspot in 99 different posts.  I feel like I should give you all a break on this one, but I'm not.  It's #100, I should do something big, right? about 100 things that I've learned over these past 3 years?  I'm kidding - none of you would make it through a list that long coming from my head.  lol  So...... uh....pshhhhhhhhhh what to do , what to do......................... Oooh, I know, I'll do it in picture form.  So here are 100 people/items/ideas/products/etc that have come to mean even more to me than ever before since I started this blog in 2009.  If you are not in it, it does NOT mean I don't love you or appreciate you, ok?  It just means I only had 100 spots - and they are in random order.  RANDOM, I say!  I don't love the first one any more than I love the 84th one.  Well, wait, that wasn't the best choice of numbers since the first one is my husband and yes, I do love the 1st one the most.  I don't love the SECOND, third or fourth ones more than the rest.  teehee.  As always, you can click the pictures to make them larger.

Happy 100th blog post to me and thank you for reading these and keeping up with Little's life with Duchenne Muscular Dystrophy!