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.  =)

Guilt

There are many days I feel a lot of guilt about Austin's diagnosis.  It's passed on through the mother so in a sense it's my fault.  I know it's not really my fault.  I know I didn't cause this and there was nothing I could do to prevent it, but it came from me...it's my fault. 

Since Austin is the only male we know in our family that has this disease we can be pretty sure that it does not run in our family.  There is a 50/50 chance of passing it on so surely someone somewhere would also have it if it was in our genes. 

There are 2 other reason why Austin has this.  In 33% of cases there is a random mutation of genes that causes this.  There is no explanation as to why this happens.  The other option is that my eggs have the mutated gene.  This is rare.  The doctor said that in this case it would have happened while I was forming inside my mother. If it's in my eggs...this can happen again. 

The genetics doctors want me to get tested to find out if I have the gene.  I haven't done it yet, because I am not so worried about it.  I don't think I do.  Of course I will still get tested the next time I go to the doctor to be 100% sure.  I'm just not sure what scares me more.  Knowing I have the gene or knowing I don't. 

Some days I think about having more children in the future.  It would be great, but I'm scared.  If I knew I had the gene I could do in-vitro and and make sure no future children have this gene.  But I'm pretty sure I don't have the gene which means I would have to leave all future children to chance.  How could I do this to another child?  What if it is my eggs?  There is no way around that.  What if the random mutation happens again?  Knowing what I know about this disease and what Austin's future will most likely hold I could never do that again.  I already have enough guilt for this happening to Austin.  I can't even imagine the guilt I would have doing this to another child.  That is what it would feel like.  Knowingly sentencing another child to this life.

I hate that so many of my posts are so sad and down.  But it really is helping me cope and get things off my chest.  When dealing with a fatal genetic disease there is going to be a lot of sadness.  But there is a lot of happiness in our lives too.  I am so grateful for the joy this amazing little boy brings me.

Hot Springs

I am a little late posting about this but I just got internet at home again and just uploaded the pictures from our trip. 

A few weeks ago we went to Hot Springs for the weekend for a mini vacation.  Jonathan's parents own a condo up there so we were able to stay there for free.  We left Friday after work and got there right about dinner time.  We wanted to try a new place and a place we don't have close to home so we ate at

 

It was really good.  It's kind of like a 50's diner place that has an ice cream bar for the kids.  The food was great and the ice cream was amazing.   Austin got a special Halloween shake that had eyeballs and spiders on it. After dinner we went to Wal-Mart to stock up on some groceries and headed to the condo.  Austin was sooooo excited to go with us this trip and he loved the condo!

The Razorbacks played Saturday morning so we slept in and lounged around watching the game.  It was nice to be away from home and have nothing to do.  After the game we went to the Mountain Tower.

After the Mountain Tower we went down to walk through bathhouse row.

It was dinner time when we were done at bathhouse row so we went to a local pizza place.  After that we went to ride go carts and play mini golf.

Austin Won!!!

We went and got some dessert after golfing.  It was a great day!

Sunday Morning we got up early and went to eat at the Pancake House.  It was amazing and worth the 25 minute wait. We didn't get to go in the bathhouses on Saturday because they were already closed so after breakfast we went through and looked around. 

The boys hiked to the top of the hill

We had a great trip and can't wait to go back!

Anniversary

Today is an anniversary of sorts.  And it's not exactly a happy one.  One year ago today I learned of Austin's Muscular Dystrophy Diagnosis.


It started out like any other day.  We headed to our first visit to the neuroscience clinic at Arkansas Children's Hospital.  I knew they had found something in his latest labs, but this was just another doctor on the quest to find out what was wrong with my little guy.  I had no idea what was to come.

 I took this picture at the doctors office right before his diagnosis

We waited a very long time to see the doctor.  The nice nurse brought Austin some snacks. I was anxious like I always was at his appointments, but I didn't expect to have any answers.  We never had answers. The nice doctor came in and asked me a few questions and examined Austin and said he has Muscular Dystrophy.  My heart sank.  This was before I even knew much about it.  I tried soooooo hard not to cry.  Austin was there watching me and I had to be strong.  After some more talk the doctor said we would do a pulmonary function test (which must be repeated annually), an echo (to be repeated twice a year), and some lab work to confirm which type he had.  Devastated.  I was devastated.  I wanted so badly to believe they were wrong again.  The doctors had been wrong before. Surely this was just another misdiagnosis.  But I knew in my heart this was this answer.  The answer we had been searching for for so long. When the doctor left to schedule the tests the MDA lady (as I call her) Carolyn came in to talk to me.  She handed me a bunch of pamphlets and her card and started telling me about support groups and opportunities.  That's when I finally lost it.  I couldn't help but cry and she just hugged me.  It's what I needed at the time.  That wonderful lady would come to be a friend of mine and a huge help over the last year.

I had been texting my mom and Cheryl what the doctor was saying.  Jim, Cheryl, and Kendyl happened to be in Little Rock that day and offered to come up to the hospital to stay with me.  Of course, I said no at first.  That I was fine.  But Cheryl knows me better than that and insisted they would come.  It helped a lot.  Just to see them and hug them.

It's a day that I will never forget.  It's the day that changed our lives forever. For years I wanted to find answers to what was causing Austin's liver problems.  We searched and searched and saw doctor after doctor with no luck.  Then I got the answers I had been searching for and all I wished for was to go back.  I wished I didn't know the answer.  Some days I still wish that.  Ignorance is bliss right?  But the truth is you can't ever go back so we will just keep moving forward step by step and keep fighting for his life.

Awareness

I am so happy it's Friday!!!  We are headed to Texarkana this evening to see my mom! 

 Check out this cool dude.  =)  I think he looks so much like Andy. 

One thing I have learned dealing with MD for almost a year now is that awareness of this disease is very important.  We NEED to find a cure!!!  And in order to do that the researchers need money.  People donate to all kinds of causes.  And if I can bring awareness to this disease maybe when people choose to donate they will donate to MDA so we can save these kids lives or at least find a medicine that will help prolong their lives. 

Muscular Dystrophy Awareness is a lime green ribbon

Cheryl made me this beautiful bracelet.  I told her I wanted something I could wear every day.  People ask about it and it's a way to raise awareness.  I really didn't know anything about MD before Austin's diagnosis.  So they are many people out there that don't know much about it or know someone that it affects.  It makes it more real when you know someone with the disease.

My goal going forward is to raise awareness in a big way.  I hope to start some fundraisers so that I can donate large sums of money to MDA.  I know how amazing MDA really is and I know we NEED to find a cure for Austin.  Since we are all spread out there are some things to keep in mind.  When you see fireman in your local community trying to "fill the boot" for MDA.  Throw some change in there.  When you are out shopping and someone asks if you want to donate $1 to MDA by buying a shamrock.  Do it.  Every little bit counts.  MDA not only gives money to research but they also give back to these kids.  Austin was able to go to summer camp this past year for FREE because of donations made to MDA.  That summer camp was for kids with muscular dystrophy and they were able to do all the normal camp activities but modified for them. They give free flu shots to these kids since this disease affects their respiratory function.  And there is so much more that they do.    

And the most important thing is prayer.  Pray for Austin and pray for a cure.