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