Sunday, January 31, 2010

Meeting a New Doctor...

Tomorrow, we head off to Milwaukee to meet with a new doctor.  Hopefully, this is one that we won't have to keep around for very long.  He is the surgeon who is going to do the muscle biopsy on Lil Man. 

The muscle biopsy is used to test for several diseases/disorders, including Muscular Distrophy.  As I have stated before, the doctors think there is "something else" going on other than DS.  We are at a point in our search for "something else" that we are eliminating diagnosis now.  This is pretty much the last thing that they can test for. 

 My understanding is that they take the biopsy, freeze it and prep it for slides.  Then it goes to a genetics committee, where they study it to see if/which version of MD or mito disease he has/ may have.  Because of insurance, they can only do one test, for one type of MD at a time.  There are over 200 different kinds.  So, this may be a years long process.  One that we think is more of a rule out, than in. 

What we think is REALLY going on, is a cumulative effect of all of the insults to his brain over the years.  When you look at the list, it really isn't rocket science (to my way of thinking) that this is what is going on.  The kid has had a stroke, 1000's of seizures, heart defect that caused low profusion to his brain.  He had aspirated just about every time he was fed up to the age of 7 months - to the point that he basically drown and had to be put on the vent over a dozen times.  Until his first open heart surgery, his O2 levels would drop into the 30's several times a day.  That alone surely caused some damage.  Then there is the nutrition thing - does he not absorb nutrients because of brain damage or is his brain not getting enough nutrients because of malabsorption? 

He is a mystery wrapped in a riddle.  I am seriously considering getting a T-shirt for him, with "We have never seen this before" printed on it to wear to doctor's appointments.  LOL! 

So, the next big hurdle is making sure that they can get enough of a biopsy to be useful, and to not have to go back and do it again.  The poor kid has NO muscle mass.  They will probably have to biopsy multiple places instead of just one.  I just hope they don't have to cut on both arms and legs to get what they need.

When this surgery is scheduled, we also have to co-ordinate a bronchoscopy (look down his trachea into his lungs), EGD (look down his esophogus into his stomach), colonoscopy - 'nuff said, and the dentist.  There will also be a test, while he is sedated, called an EMG.  It is a test where they put probes under the skin, into the muscles, and run electrical current through the probes to see how/if the nerves in his muscles respond.  He has never had one of these before, so I am interested to see exactly what the results are.

He seems to be able to move his arms and legs, just maybe not in the same ways we do.  At this point, if it gets the job done, we are happy with it. 

So, we are ready for a very long day tomorrow.  We will have to leave the house by about 4 a.m. to make an 11 a.m. appointment.  Hope everyone has a great day.

One more thing, if you could say some prayers today for our buddy Jaxson.  He has been admitted to the hospital with something similar to RSV and pneumonia.

Hugs to all!

Steph 

2 Comments:

Blogger My name is Sarah said...

This is Joyce. We will be praying for your strength during the upcoming hours. That is a lot of testing with many hours of waiting for results. I always found that to be tough. Hopefully, they will have some answers for you.

January 31, 2010 at 5:31 PM  
Blogger The VW's said...

Praying all goes well!!!

January 31, 2010 at 6:26 PM  

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