My sons deletion

My sons is 4 yrs 9 months. His deletion is big (3 to 43).  Before knowing the deletion I was encouraged about exon skipping.  I asked Dr Wilton from Australia if his deletion could be helped, he said probably not.  It seems like so much research is going in this direction.  Do we have any reason to help in other areas.  We are losing hope and faith.  Please respond.

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Permalink Reply by Lori Ware on March 13, 2011 at 11:22pm
Look into Accelleron...ACE-031. It is non mutation specific and holds great promise.  Trial is ongoing in Canada and will begin (probably for boys not on steroids) in the US later this year.  It is a VERY promising treatment.  Don't lose hope...it is there!
Permalink Reply by Rob and Theresa Capolongo on March 14, 2011 at 7:01am
I also heard of ACE031 in trial in the US later this year.  We did just start steroid treatment.  Should we have held off?  It seems that this is the only course of treatment right now other then supplements.....
Permalink Reply by Lori Ware on March 14, 2011 at 8:49am

steroids and supplements are the only thing to do right now.  Your son is young, if he were mine, I would have begun steroids as well (we did in fact when mine was 4). You have time...My son is 9...I hope i do!

 

Hang in there, we will all be ok!....SOMEHOW!

Permalink Reply by Liisa Underwood on March 14, 2011 at 11:55am

It's hard to have hope, but it is important to try as much as possible.  The steroids are so helpful and have benefits beyond the here and now.  The side effects are not as scary as I had once thought but still important to watch.

 

My son is 5.5 years old, not much older than your son.  Connor is now grappling with the "why me?" Holding onto hope while maintaining some sense of reality has really helped us and Connor when we talk about this with him.  We let him know the doctors and parents are working hard find better treatments and a cure.  We are very encouraged by this and until we see the fruit of this labor, we have to deal with what we have now but always maintain hope that we'll never have to buy the wheelchair.  He seems to like these explanations.  He seems to hate DMD less because of it.  So your hope is important to his morale too.

 

Hang in there. Stay realistic. Stay prepared but always hope.

 

Permalink Reply by cheryl cliff on March 14, 2011 at 12:11pm

Sometimes it's impossible to stay positive.  Everytime I lose faith I must force myself to only seek happy things for a day, to change my mood since my sons are well worth the effort. 

 

Then you can also focus on upcoming approaches that appear strong.  Just received notice that utrophin upregulation is still on the menu, which I had given up on awhile ago.  Go to www.summitplc.com to read their latest announcement.  It may brighten up your day, did mine  :)

Permalink Reply by Dana Edwards on March 14, 2011 at 11:15pm
My son Tanner also has a large deletion 3-36 in-frame. Do you know if you are in-frame? Tanner is 6 and is doing very well. He stuggles with steps (needs to hold on) and he speed walks instead of runnning. He is really smart and has no issues in school. ACE-031 is what we are waiting for. I friend requested you. Where do you take him? We live in Toms River NJ. It's tough but hang in there.
Permalink Reply by Ginny Ward on March 15, 2011 at 1:53am

My son is 20 with a large deletion as well. Hard to tell exactly if it in in-frame or out of frame. Depends upon how you interpret it. And those large deletions take awa y a big part of the protein.

 

john hates having DMD but focuses on what he loves to do which is art and tarantulas (the World's easiest pets!!).

 

Like all of us, as long as he is busy, he is happier. None of us know what lies before us. With our kids we just have more information than most. So much has changed since I adopted John at 4. Hopefully things will continue to get better. If we can transform DMD into a chronic condition rather than a "seen as death sentence", that is a s good as it gets for many conditions.

 

Observe and see what your kids like to do and then invest in that. Felling like you are accomplishing something.... We all need that.

 

Ginny

Permalink Reply by Steve Dreher on March 17, 2011 at 8:23pm
Hi - You should also note the positive news that came from Summit corporation recently (SMT C-1100 - http://www.drugs.com/clinical_trials/summit-reports-progress-duchen...), it's another utrophin up-regulator. Theoretically, utrophin will help all of our sons.

I have been interested in Jeff Chamberlain's work at the U. of Washington (http://depts.washington.edu/chamblab/) - I THINK the gene therapy model is not mutation-specific.

Steve
Permalink Reply by Rob and Theresa Capolongo on March 17, 2011 at 9:10pm
thanks for the advice i will look more into this
Permalink Reply by Clare Harper on March 18, 2011 at 6:58am
Permalink Reply by Keith Van Houten on March 19, 2011 at 9:52am

Steve - I believe you are correct.  Gene therapy is not mutation specific.  It's basically trying to replace the dystrophin gene with a working copy.  The challenge has been that because of the size of the dystophin gene, they have to use a shortened version to have it "fit" on the virus that carries it to muscle.  That's how I understand it.     Keith

 

Steve Dreher said:

Hi - You should also note the positive news that came from Summit corporation recently (SMT C-1100 - http://www.drugs.com/clinical_trials/summit-reports-progress-duchen...), it's another utrophin up-regulator. Theoretically, utrophin will help all of our sons.

I have been interested in Jeff Chamberlain's work at the U. of Washington (http://depts.washington.edu/chamblab/) - I THINK the gene therapy model is not mutation-specific.

Steve
Permalink Reply by Eric thurston on March 20, 2011 at 7:06pm
Hello Rob and Theresa.  Another promising compound being developed is LAM-111.  From what I understand, trials will be starting within the next 18 months.

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