Tuesday, May 24, 2011

What's the Diagnosis? Part 1

Now that Sweatin' for Sammy is over, I have other things that I need to focus on again.  Everything else I was involved in was a little neglected, and so now, real life begins again.

One of those things is working with the geneticist here.  When Samantha was born, she was diagnosed with Primary Autosomal Recessive Microcephaly.  We were given information and sent on our way.  There really was no need for follow-up.  There was no genetic test that could be performed to confirm the diagnosis, but she seemed to fit the diagnosis pretty well.  Ok. 

While living in Spokane, Samantha's pediatrician (Dr. Olson) was very much involved in the special needs community.  He suggested we see a geneticist because he was pretty certain there was now a test for this rare condition.  We visited with the geneticist, and she said she thought the original diagnosis was accurate.  We discussed all the same stuff, so none of it was new to me.  As is customary, I received her notes from that appointment in the mail.  This time, however, I either didn't read the report, or didn't notice "seckel syndrome" on that paper.

Last year a family friend passed away, leaving behind his wife and young child.  He was about Marcus' age and it really got me thinking about ... life.  How fragile it is.  How we just never know.  And I got thinking about losing Samantha and it made me sick.  So many of you have lost your children, and my heart breaks for you.  I just can't imagine my life without Samantha or Callie.  I decided that I wanted to give one more shot to finding out if there was a genetic test out there that could confirm her diagnosis -- Primary Autosomal Recessive Microcephaly.  What if she didn't have that?  Are there things we should be keeping on eye on that we aren't simply because we don't really know her diagnosis?  Heart/lung/bone issues?

When we moved to California and Marcus got a job with Kaiser Permanente, I decided it was time to investigate.  I have done a majority of this on my own, as not to stress out Marcus while he endures a stressful year.  I got Samantha's DNA tested (the new microarray test), and it came back "normal."  A genetic counselor has been gathering all our files and we now have an appointment for June 3 to meet with a geneticist.  The geneticist will meet Sammy, measure her, we may get some scans done, possibly additional blood work (not all at once most likely).

I'm not sure what to expect.  At first, I thought "Ok, maybe she has Seckel Sydrome."  But Seckel Sydrome comes with a lot of complications...higher risk of leukemia is one.  Marcus is terribly stressed out thinking of what we may hear that day, and I'm just not sure how I feel.  I'm the type of person who likes to know it all...lay it out on the table and I'll go from there.  But I can also be very "Who knows?  And there's nothing we can do about it anyway." 

The geneticist we met in Spokane, looking back, seemed less thorough.  I'm not sure how many records she had of Samantha's.  She didn't measure her.  And, she states in the report that Samantha "was referred for genetic evaluation by Dr. Olson's office due to a previous diagnosis of primary microcephalic dwarfism (Seckel Syndrome)" yet that's not the original diagnosis that she had.

So, was she just careless?  Or doe Sammy really have Seckel Syndrome, and we now have to watch for life-threatening anemia and signs of leukemia?  I have always felt blessed that we knew her diagnosis early on; we've never had to search and search for what she may have.  But now, I'm starting to wonder if we are just beginning a process that I never imagined we would.

Jenny.  Welcome, again, to special needs living.  Right?

Sammy sitting on the deck, watching her sister and cousins run around.  She's amused.

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