Thursday, June 30, 2011


While we were in Michigan, we had some family pictures done...and this picture just melts my heart.  I think it's my favorite of the entire day.

Thursday, June 23, 2011

5 Years

Oh how quickly 5 years pass by.  Today, Samantha, you are 5 years old.  FIVE years old.  That's incredible to me.  Today you giggled and smiled as you pushed the bowling ball down the little ramp.  I hope I never forget that.  You loved it.  Today you smiled every single time one of your cousins came up and said, "Happy Birthday Sammy."  You know it's your birthday.  You must.  Because there is this light in your eyes today.  You are beautiful.  You are smart.  And every day I feel more and more blessed that you are mine...that I am your mommy.  I love you baby girl.  You have expanded my heart more than I thought possible.  I hope you have a fabulous rest of your birthday and today, as you are surrounded by all of your family (from my side), understand how much we love you.  We all love you so much.



Wednesday, June 15, 2011

My Problem

Dearest Munchkin,

I have a serious problem. I talk about you too much.  But, the thing is, you fit into every single conversation.  I have to restrain myself from interjecting "Samantha stuff" into my conversations.  Seriously.  And lately, I'm having to constrain myself more and more!  But sweetheart, when you have a face like this....

how can you not consume my every thought?  It's a fair question.  You're a babe -- you good looker you -- and I adore you completely.  You quite simply light up my life (as cliche as that sounds) and I wouldn't replace you for anyone else in this world. 

I love you to the moon and back.  For eternity.

Friday, June 3, 2011

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.

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.

Thursday, June 2, 2011

Appreciated Feedback

Thanks for the emails and phone calls with all the non-profit information.  We may have to take a different approach than what we were originally looking at, but I think we'll have one up and running that can benefit Sammy and other kids and families.  I'm excited for it.

In the meantime, check out this cutie patootie trying to take a bit of an apple!  I know her hands should be more open and relaxed, I know her left hand should actually be holding the apple instead of pressing against it, but I love the smile in her eyes -- she's so proud of herself. 


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