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Today I had a 90 minute conference call with the genetics counselor at NIH.  It was an enlightening conversation.  I was pretty nervous all morning in anticipation of the call.  I wasn't sure what to expect.  I wasn't sure if they were going to give me results from the Exome sequencing and on top of that, my mind was blank.  I couldn't come up with one single question to ask.  It was making me anxious.  It's not everyday you get the undivided attention of a world renown research center.

Just prior to her call, she sent me a power point presentation on genetics.  I had a minute to scan the 60 slides in the presentation.  Thankfully, this was just enough to get my brain into medical mode and my mind was flooded with questions.  Hard questions that I didn't want the answers to.

I've never been able to feel settled that they haven't been able to find the DC gene in Shelbie.  I have been told all along that maybe she has a mutated X chromosome that is driving some of the symptoms we see in her that follow the clinical picture of DC.  Today, it's clear that that theory is not likely.  The team at NIH is fairly convinced that my  kids have two rare genetic diseases.

I sent them all of the kids' records from the past year and a half.  They have read through them all and met to discuss what is happening.  In my meeting today, the brain problems that have manifested in Shelbie and Sam are similar and not part of the clinical picture of DC as they know it.  Now..there is a chance that there are genetic mutations that have not yet been identified in the DC family that involve more brain issues.  Where science is right doesn't appear to be a DC problem.  So, that means something else is going on.  It can't just be a stroke of bad luck that two of my kids have the same brain issues.  If one had it, then they would just assume that was a fluke but that isn't the case.  And...we haven't even started looking into Spencer's neurological issues and he has more than the other two put together.

There are a lot of unanswered questions in the genetic testing that was done in Seattle.  Sometimes, when researchers find a mutation that explains the clinical picture, they stop looking or things can be missed.  This is the reason that NIH is doing their own exome studies.

So much information was gained from this meeting.  I was glad that we had it.  They have not yet completed their Exome studies but she did let me know that they are working on it.  It's the interpretation that takes a long time.  Especially for us, she said that they will be looking very closely at the clinical picture as well as the scientific picture to help them piece information together.

I don't feel any better but I don't feel any worse.  It was a benign day I guess which isn't bad.



  1. This is a whole new world. I'm so grateful they are working on this


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