Mitochondrial Results

Well, I got the call today from Dr. S in Seattle.  She started out with, "I have some good news, the kids do not have mitochondrial disease affecting their marrow!"  Inside I'm cheering, squealing, relieving (I know that's not an adjective but today it is!)  I try to come across as calm, "Great, that's great!"  She continues, "but..."  There's always a BUT!  I hate BUTS. 
"They do have a surprising sequencing mutation that causes a mitochondrial disease called Lebers Hereditary Optic Neuropathy but we aren't sure what that means for your kids or what to do with this information." 
      A sinking feeling takes over, how can this be?  Eye disease on top of every other stinkin thing?  From there, the conversation was overwhelming.  When she saw these results, she met with the mito docs to see what they thought.  They too were stumped but wanted to see the kids in June when we go for bone marrow biopsies.  Dr. S also contacted one of the world's top Biochemical Geneticists, the best in the world!  She is Dr. K and incidently works out of a clinic in Seattle.  She mostly only studies large families with completely unknown and extremely rare and severe diseases.  She studies their genes and tries to discover which genes and chromosones are mutated; a huge job.  After Dr. S met with this famous Dr. K and they discussed my kids, Dr. K decided that the she wanted to take us on as a project, free of charge!  This is an amazing blessing.  Clearly, God had a hand in this.  Why else would she give us the time of day?  She is confident that her team will be able to get closer to what mutated genes are causing all these problems. She even said there is a big possibility that they will discover a new disease within the realm of SDS!   Even though this feels good, it is so overwhelming and terrifying.  I don't even think I can explain how devastating this feels tonight. 
      We also discussed what has been going on with Shelbie and that is not looking good either.  I will probably save those details for the next post, I am wiped out tonight!  The short of it is that she will no longer be getting a port as planned and we may be making a trip to Seattle in the next few weeks instead of June.  Stay tuned for more details.


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