Jan 27, 2011

Genetics update

Remember back on January 3 how Manny went to the Geneticist?  Quick summary version - they did a lot of looking at him, asking me a lot of questions and scratching their heads.  From all the paperwork, the MRI and the presumed diagnosis, he shouldn't be cognitively on level. 

But he is. 

While there, they also did several genetic blood tests. 

Today we got the initial results.  It was the Genetic Counselor and not the Geneticist so she couldn't interpret them, just relay them. 

So here is what I have. 
  • Long Chain Fatty Acid:  normal test result.  (From what I can find, this was a test primarily to test for adrenoleukodystrophy and that is negative.)
  • CK Muscle Enzyme:  Elevated levels.  The normal range is under 204 and his is 1042.  This means there is some type of muscle wasting, distress or disease.  It can point in quite a few directions.  
  • Genetics Microarray:  ??  This test is fairly new and it determines if a person has a deletion of genes or a duplication of genes.  He doesn't have either.  So that's great.  But there were notes that showed some abnormalities ... this is the part the counselor wasn't allowed to share due to interpretation. 
I don't see the geneticist again until March 3. 

In the meantime, the Neurologist ordered 2 tests.  Ironically, one is the Long Chain Fatty Acid.  I will call tomorrow and let him know that one was done.  But the second is for a type of leukodystrophy called Krabbe's.  From the symptoms he has, this doesn't fit in my opinion but who knows. 

Once that test gets back, they will likely order a muscle biopsy.  I'm not looking forward to that for him ... but it might be the only way to get a definitive answer. 

So while I wait, I research.  (I'm good at that.)  And I have come across some things that make sense.  They fit into the realm of Congenital Myopathies.  There are several versions and I have come across 2 that make the most sense.  I'm still working to see if those could cause the strange MRI readings.  If so, I'm pretty sure I have figured this out.  If not, I'm back to square one. 

Thankfully I have a brother in law who is a Doctor of Radiology so I might just ask him. 

But the real story?  The baby turned 19 months yesterday.  He is the chattiest baby I've ever met.  He flirts with everyone he sees.  He captures hearts just by sitting there, before he does anything.  He is loving life.  Learning daily.  Making lots of wonderful memories.  He loves to smile.  He deposits joy. 


  1. Amazing what some good TLC will do for a child. :O)

    Keep beating the odds, Manny!!


  2. prayin for answers! you are such a good mom! :) Can't wait for God to let me meet you :)