Strength for the Journey

Relying on God in our strange trip with Mitochondrial Disease

Another trip to Riley

We traveled down to Indy again today.  Went for a checkup with the doctor who diagnosed Erin’s mitochondrial disease.  I like Dr. W.  He’s very honest about how much medicine still does not know about lots of things.

Genetics is an exploding field right now.  New things are being discovered all the time.  Children who were once diagnosed as one thing are having their diagnosis refined to something else.  New treatments are being explored.  They find connections with other syndromes.  The work they are doing is really amazing!

As a neurogeneticist working at a children’s hospital, Dr. W. has the chance to see lots of children with various rare disorders.  He was happy to see that Erin is continuing to do well, and making (very) slow but sure progress.  We discussed improvements she has made in the last year, like the huge milestone of sleeping through the night (gotta love that 😉 ).  We discussed her problem with vomiting, and he thinks it’s probably related to her recent illness.  If she doesn’t get over the vomiting by the time she gets over the sinus infection, then we should think about seeing a GI doctor is what he said.

He’s also having some thoughts about refining her diagnosis.  There are some newer tests available for some syndromes and he wants to test her for a couple of possibilities.  Since we already needed to have a blood draw done to run some routine tests, we just had them draw extra blood to run some more genetic tests.  Dr. W. says that Erin doesn’t fit neatly into any one category of mitochondrial diseases, and so he would like to look at some more possibilities.

My thoughts about the testing are that if they can find information to help her or others, then let’s go ahead and test her blood.  It’s not an invasive test like a muscle biopsy.  So we wait yet again!  Our little mystery girl still has secrets that she hasn’t shared.  🙂



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