Click 2012 ( over there -> ) and start at the bottom if you want the story from the beginning.

Monday, August 20, 2012

Choose wisely!

Waiting for the results of the test for Kennedy's disease wasn't so bad.  On February 28th, Gerrí and I left for Maui and had a very nice time.  We were there almost 3 weeks.  We didn't waste any time worrying or wondering about medical stuff.  I don't think that this new situation made much of a difference in our activities - we pretty much did what we always do, with minor adjustments.

The week of March 19th I made a call to find out if the results were back.  They should have been, but they weren't.  So Mary, the coordinating nurse (another very nice member of the team up at the neurology clinic), had to chase down the lab to find out what was up.  This went on for a week or so, but Mary told me that the results should be there on April X (can't remember the date).  Right after that day I called in and Mary was busy so I asked for my little friend, Kenya.  Kenya confirmed that the results were in and said she could share them with me.  Kenya was very happy to tell me that the DNA test came back negative.  No Kennedy's!  Great news!  Right??  Well . . . .actually no.  That means that I was back to flunking tests for conditions other than ALS - kind of a bummer.

I emailed Dr. Smith asking for clarification and confirmation of the test results.  He answered by email and explained that he was not satisfied with the test results and that he would speak with the lab and probably ask them to run the test a second time.  There are two notable things about what I just wrote.  1)  I have a very busy, nationally renowned neurologist who responds personally to email.  I don't know about you, but I've never had a doctor that responsive, and on a first name basis, too!  2)  Maybe I could have Kennedy's after all.  New hope!

Ian Blue Riley
Now, here is a dilemma to consider.  Nobody wants to get ALS, right?  But Kennedy's is genetic.  It is passed down on the X chromosome like hemophilia.  If I had Kennedy's, that meant that my daughters are carriers and that their sons would have a 50% chance of getting Kennedy's.  So here is a question for you.  Would you take ALS if it meant sparing your grandsons from getting Kennedy's?  I felt a little like Indiana Jones and the Holy Grail - choose wisely!  I was beginning to feel selfish about even hoping for Kennedy's even if it meant a new joke for my conservative neighbors.  So I felt very differently as I waited for the second test results.  First of all, if they know specifically what gene causes Kennedy's, which they do, then you either have the gene or you don't, right?  It should be a simple yes or no.  In my heart, I really believed that the first Kennedy's test result was the real deal.  And, now I was pretty sure that I didn't want to have a genetic disease which I could pass down to my posterity.  I only have one grandchild.  And his name is Ian.

But we did wait, and eventually the second test came back - again, negative for Kennedy's.  Mixed feelings?  Not really.  Dr. Smith said that he still wanted to talk this through.  He said that even though the Kennedy's test was negative, it is a very big coincidence to have a neuromuscular disease and gynecomastia.  Maybe there was still something to that.  He was going to do some more research and we would discuss it at my next appointment.

My next appointment with Dr. Smith was going to be on May 8th. 


  1. Thanks for sharing Kevin. Love you! Lucy

  2. This one made me cry Kevin. What a thing to have to think about. An exercise in love. Sending a hug! Leslie P.S. Give that angel wife of yours a hug for me too!

  3. Kevin, I'm sure sorry and you will be in my prayers. Debbie Larsen



Follow by Email