Apr 18, 2011

We Have a Name!

The muscle biopsy was worth it ... we got an official diagnosis.  I'm still getting my mind around it, researching, etc.  So over the next few days I should know more and be able to explain better.  But for now, I'm actually happy to have an official diagnosis. 




Merosin Deficiency Congenital Muscular Dystrophy.  It affects the Laminin alpha chain 2. 

The basics of this condition:  It is NOT a leukodystrophy (white matter brain disease).  Instead, it's a Muscular Dystrophy.  The old diagnosis had a prognosis of about age 2.  This one is "rarely makes it to adolescence".  This is NOT typically regressive (and since his hasn't regressed since birth, the odds are very low that he would lose functions).  It spares cognitive function.  These kids typically die of respiratory complications.  (Their lung function just can't keep up with their body growth, they get sick and don't recover.)  Typically they do not ever walk.  They tend to contractures (tightness) in ankles, hips and elbows.  (Manny has the ankle).  Also tend to develop sciolosis. 

So ... overall, not the greatest thing to have.  It is a very "life shortening" condition. 

The good news?  I have a big and mighty God.  He loves Manny.  He hears prayers.  We are still in faith that this story's ending isn't written yet.  Doctors have gotten it "wrong" before.  God has the final say.

I KNOW that Manny is supposed to be on this Earth.  He has jobs to do.  They are not completed yet. 

retro manny
This diagnosis has strangely given me a peace.  Now I don't have to fight for the diagnosis, I can focus on healing.  I know the enemy by name.  Merosin is going down! You picked on the wrong family, baby and community of friends.
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6 comments:

  1. AmyApril 18, 2011 at 12:30 PM

    Beth!!! My thoughts and prayers are with you as you work through this new diagnosis and have to deal with this terrible disease. I know that you will fight it with all you have. So glad you have a direction to go towards now and know what you are dealing with. Many hugs to you!!!

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  2. Mom2SixApril 18, 2011 at 12:38 PM

    Sometimes we don't want to "label" our kids, but it is so much easier (IMO) to know WHAT we are fighting against with our kids. It gives us a direction to move in rather than "punching" aimlessly at an unknown adversary.

    Now, you can work at getting the best help available for him!

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  3. Maps of ChinaApril 18, 2011 at 4:10 PM

    Beth, I hope Manny will be the statistic that changes and challenges the medical studies in this area. No matter what, Manny has angels on earth and in heaven holding him close.

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  4. Scrappy quilterApril 18, 2011 at 4:11 PM

    Praying for a miracle. Hugs

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  5. LinneaApril 18, 2011 at 4:56 PM

    I am so glad you know. It must be in a small part a relief to finally have a name. God is bigger than the diagnosis as you know and Manny will be healed in Jesus name.

    Be blessed

    Ashlee

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  6. Monique in TXApril 18, 2011 at 5:20 PM

    So the monster under the bed has a name. Okay, now you know what you are fighting. I bet Manny walks, goes to school, and proves all the experts wrong on every front. There's too much fight in that kid for anything other than miracles.

    Keeping you in prayer.

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