Samantha Syndrome

Today was the big fat 'ole geneticist appointment.  Anxious?  I tried to be sneaky about it, but yes, I was a little anxious.  Here's the short version (and usually short is better with me).  Three different diagnoses were mentioned:

* Seckel Syndrome: She is not convinced, at all, that Samantha has Seckel Syndrome.  Big 3 cheers.  That was one of our biggest concerns because with Seckel Syndrome comes higher risk of cancer, life-threatening anemia, etc.  I wasn't feeling up to that today.  She didn't see enough evidence, at all. 

* Primary Autosomal Recessive Microcephaly: She's also not convinced that Samantha has what she was originally diagnosed with.  So, even though at birth she seemed to have fit it, now that she's almost 5 (holy cow!) she doesn't really fit it anymore. 

* Microcephalic Osteodysplastic Primordial Dwarfism: She only brought this up because after some research that Marcus had done, he asked questions.  Not convinced with that also.  Though Sammy does seem to fit parts of the symptoms, I guess, after some of Marcus' research, there are some big things that she doesn't fit -- like even though she is small, she is looking completely proportionate (except for her head), etc.  Classic signs of dwarfism are absent.

We are looking into having an updated MRI (our last one was in 2007) and at the same time, doing a bone scan.  At least they'll have that on file so if something comes up, they have recent information and they can use when speaking with specialists.

For now, it looks like our second concern -- any other major health issues that we need to be concerned about (kidney problems, cancers, aneurysms, etc) -- aren't really an issue either because we simply don't know.  And that feels great.  I'm ok going into the unknown.  After all, even with Callie we have no idea if she will, heaven forbid, be hit by a car or whatever.

Dr. Bergoffman said that at this point, she felt Samantha fit the "undiagnosed" category -- yes, certainly there's a strong probably that she has some kind of microcephalic syndrome, but what that could be is completely unknown.  Marcus mentioned that perhaps she just has Samantha Syndrome, and who knows?  Maybe one day other kids will have Samantha Syndrome.  But for now, I'm feeling relaxed again.

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Samantha Syndrome: A form of microcephaly, presenting in utero.  Small in stature, though no signs of true dwarfism.  Happy.  Playful.  Children with this syndrome tend to light up the room when they enter and change people's hearts and lives for the better.