Clinical Trials

 I know the above photo is a little hard to see since it is taken with my cell phone but that is Austin's report card.  All A's!!!  I have one smart little guy.  Even his teacher thinks so.  But right under all the good stuff is "needs to play less in class though".  Yep, that's my boy.  I still always find it fascinating which of our personality traits pass on to our kids.  I always got in trouble for playing/talking too much in class too.  =)

 I wanted to explain a little more about Austin's diagnosis.  There are 79 exons.  Having a deletion of one is what causes muscular dystrophy.  There is not one certain deletion for kids with Duchenne.  Which is why it is so hard to find a treatment or cure.  Below is what normal looks like.  It's like a puzzle.  Some pieces are flat and some are pointy but they all fit together perfectly.



Austin has a deletion of exon 45.  As you can see below with 45 missing 44 and 46 do not match.  So his body is not producing dystrophin which is what keeps your muscle fibers in tact. 



 There are clinical trials going on for exon skipping drugs.  In Austin's case he would need to skip exon 44 and then exon 43 and 46 would fit together and make a lovely, brand new mutant gene that might allow Austin to produce some dystrophin, but not enough for a symptom-free lifestyle. The hope is that such a change would force Austin's Duchenne into behaving like Becker and possibly slowing the progression to double his life expectancy. So the progression process would be the same, only in slower motion.  They are doing a clinical trial for and exon 44 skipping drug right now.  

I want to do anything I can to help Austin and his quality of life.  I know right now he is mostly symptom free, but with Duchenne that can change in an instant.  He is quickly approaching the age that most kids with Duchenne lose the ability to walk.  Scary!!!  I want to get involved in these clinical trials.  I want to do whatever I can. 

I am not a patient person.  It's a downfall at times I know.  It's so hard to sit back and feel like I am doing nothing to help Austin right now.  I know that there really isn't a whole lot that I can do at this point, but I just feel like I should be doing something.  And right now my only option is to wait until our appointment in March and talk to the doctor then about getting involved in clinical trials.  She had mentioned it to me before, but said we would talk more about it in March.  I have also read up on medication that can help keep these boys mobile longer.  I have a very long list to talk to the doctor about in March.  It just seems so far away right now. 

I'm just going to have to pray for patience.  =)