Here we are, my little babies ready to meet yet another doctor.  Dr. David A. Stevenson is a pediatric geneticist.  I was trying to get in touch with him at the university in Salt Lake where he was dong a clinical study on NF patients with CPT.  Turns out he had moved, and taken another position at another university.  I was super disappointed, until I found out where…


What are the odds?!?!?

Today we met him in person for the first time, despite corresponding at length over email.  He took an extensive family history, examining both Amy and Charlie.  He even gave Amy’s daddy an abbreviated exam.  Then he confirmed that all three have NF1 – not really a shock, but at least now we can develop an actual plan instead of just “count the spots”.  (Lord, I can’t believe I accepted that as truth, I’m so disappointed in me.)

The plan for now is pretty simple.  Both kids are going on a vitamin D regimen as they have low levels – a very common NF thing.  Additionally, they need to have their eyes examined every year for tumors until the age of 16.  Why?

  • If no tumors show up by then, odds are they never will.
  • If they DO show up and we see them, they are easily treated.
  • If the DO show up and they are NOT treated, then permanent blindness could result.

The last bit was a warning.  Complaints of sustained pain are to be taken seriously, particularly sustained pain that is strong though to wake them from sleep.  Pain like this should be looked at right away, especially if it’s in the head.  It could signal something very serious.

So we departed with a plan in place, and ready to get insurance squared away so Charlie can become an official patient of Dr. Stevenson, and Daddy can go be seen in an adult NF clinic. Good visit!  I’m glad we’re seeing him.

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