Little's Life

Little's Life

Wednesday, July 10, 2013

Hope for Little

Good things continue to move forward over in the Prosensa labs.

You may remember a little about exon skipping (and my sweet train track drawing) and how it could extend Andrew's life, but if not - or you just need a refresher, check out these two posts I wrote a while back before you continue on with this one:

Remember how I said that each different genetic mutation that results in Duchenne will require it's own specific formula/version of the drug to work it's magic on the boys?  Andrew has a deletion mutation in exon 45.  There is a chart that shows how to know what exon(s) need to be skipped for each mutation in my post above (building-bridge-part-2).  So Andrew could benefit from skipping either exon 44 or 46.  Well, this is from the Prosensa website:



IndicationCompoundDiscoveryPre-clinicalPhase I/IIPhase III
Duchenne Muscular Dystrophy (DMD) PRO044

Prosensa’s second product in development, PRO044, induces exon 44 skipping in the dystrophin gene and is intended for approximately 6% of all Duchenne Muscular Dystrophy (DMD) patients, including those with deletions of exon 43, exon 45, exons 38-43, exons 40-43, exons 42-43, and exons 45-54. The underlying chemistry and mechanism of PRO045 are similar to drisapersen. PRO044 is highly sequence specific minimizing the risk for off-target affects.
PRO044 addresses a separate sub-population of DMD patients and is currently in a Phase I/II study in Europe to assess the safety and efficacy of the medication for DMD patients with a mutation around location 44 in the DNA for the dystrophin protein. We expect to complete in the second half of 2013. PRO044 has been extensively tested in a series of cultured muscle cells from patients with different relevant mutations, and in the hDMD mouse model.
Details of the clinical trials, such as inclusion/exclusion criteria and trial sites, are posted on the website and all required approvals of authorities and ethics committees are granted. PRO044 has been granted orphan drug status in the European Union and the United States.

Yes, I've already cried about it.  You just can't know how huge this is if you don't have a loved one (or have something yourself that is as-of-yet untreatable) with a disease like this.  If you've never had to hear a version of the words "Your son isn't going to get better", then you get on your knees NOW and thank the good Lord in Heaven for blessing you with healthy children or children whose diseases are treatable, curable, or have ANY treatment/drug/therapy/surgery with a possible outcome of hope for your child.  Why?  Because Duchenne doesn't.  Duchenne is and always has been a death sentence.  But that may be about to finally change.

This drug therapy above, PRO044, is not a cure.  It will not take the DMD away nor will it prevent Little from deteriorating.  What it is, is hope.  Hope that Little and the others will not die as teenagers.  Hope that Little and the others will live to be 50+.  Hope that Little and the others will walk until they are 30+.  Hope that Little and the others will keep strong healthy hearts and breathe easily without ventilators and tracheostomies well into middle age.  Hope that Little and the others will be the first generation of Duchenne to beat the odds that are laid out before them.  A drug like this has the potential to rewrite the timeline that has always played out as the progression of this disease. 

I don't know when this drug will be available, but the fact that it is happening at all is just mind blowing.  Hopefully it will be ready before Little is in a wheelchair.  Even if it's not, he will still benefit from it and it still means everything I said above to the boys younger than Little with DMD.  Mister and I got to hold on to each other for a few minutes before he left for work today and really take in a moment of hope for our son.  There is much to be excited about this morning! 


Sunday, July 7, 2013

Just Keep Swimming

I put Little in swimming lessons!  They are held at the Y (of course) and are 4 days/week for 2 weeks.  We are halfway through.  The weather has been less than ideal - on Thursday, it was 67 degrees and raining.  Yet we've both been in the pool, shivering and learning, every time.  And yes, I said "we're both" in the pool.  All of my DMD readers don't need this explained, but some of you might not truly understand why I appear to helicopter over him in certain situations.   Andrew needs a one on one adult or instructor with him at all times in the water in case his legs give out or he gets knocked over.   He does not have the balance, coordination, or strength to get himself back upright in the water.  Everything takes just a bit more effort in the water, especially when it is chest deep!  But I refuse to make him miss out on something like swim class for the selfish reason of not being able to just be a spectator like all the other moms.  So into the water we go.  I did ask the instructor if she minded first, by the way.  I think she's secretly grateful for it since there are 8 little polliwogs and only 1 of her.  I've had to redirect a few of them from wading into water over their heads a couple of times now while Instructor was working with a different child (once the child was sputtering and floundering).  She can't be everywhere at once!  She's great with Little, as you'll see in the video.

He really likes swim class, though it didn't start off that way.  Lots of shrieking the first day.  Lots of clinging to Mommy.  Lots of my forcing his legs straight so that he could see that yes, he really can just touch the bottom and stand up.  Lots of screaming and leg curling when it was time to go down the frog slide.  I just stuck with it and made him do everything, knowing it was for his own good and that he'd be fine once he got comfortable with it.  Now he voluntarily blows bubbles with his mouth and asks to go down the slide!  I really want a picture of him going down the slide, but I have to get him up the steps and into position so that Instructor can take over from the outside and help him down the big frog tongue slide.  So I am behind him when he goes down.  Maybe one of the other parents will have to get in the pool this week and if so, I'll see if they can help out so I can get a picture.

Life jacket training.  Andrew was the only one she was able to let go of and the only one who didn't get scared being put in the back floating position.  My little fish.

Why does Instructor look like she's freezing to death?  Because it was 67 degrees and raining.  There were only 4 of us who showed up to swim class that day. 

Yesterday was a friend's 5th birthday party at the riding stables on post.  Little had a BLAST.  He was completely worn out and fell asleep on the ride home.  Here he is with his Ayla, waiting on their turn.


Such a change from the way he usually acts around ponies!

This one was taken in March.

Little has turned not only into a fish, but a songbird:

He has also taken up yoga as of late.

I turned my own arm into Little's logo.

And this is Caleb, our Little's Leaguer of the day!  He has been supporting Andrew internationally (Germany) until recently.  Now he's wishing us well stateside.