"taleS froM the trencheS

National Guard wife blogging about her adventures with three sons and the unexpected joys of Smith-Magenis Syndrome (SMS)
....um, yes. They are tears of joy. Really.

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Thursday, November 13, 2014

SMS Awareness Day 2014: The Selfie and The Poem

For families of people with Smith-Magenis syndrome (SMS), November is a time spent preparing for SMS Awareness Day.  We are trying to get the important 5W’s out into the public’s psyche.  

 WHAT:  SMS is caused by a deletion of a section of the 17th chromosome. It varies from several missing genes, which is my son’s case, to one single gene being mutated.  SMS was named after Ann C.M Smith, MA, DSc(Hon), a genetic counselor, and Dr. R. Ellen Magenis, a physician and chromosome expert who first described the syndrome in the 1980’s.  There are physical, behavioral and developmental symptoms that are fully described on the PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) website:  www.prisms.org 

WHO: SMS does not affect any particular group of people: race, ethnicity, etc.  It is a spontaneous mutation and can occur in either males or females.

WHEN: The 17th chromosome is broken or the single gene, called RAI1, is mutated before conception. Either the sperm or the egg can have this mutation.  If a mutated sperm or a mutated egg goes on to the fertilization stage and makes the baby, then that baby will be born with SMS. 

WHERE:  The “technical” location on the 17th chromosome is referred to as p11.2.  That is pronounced as: Pea One One Point Two.  We use the “Eleventh” MONTH and the “Seventeenth” DAY for SMS Awareness Day because this is as close as we can get on the calendar. 

WHY:  It happened because either the sperm or the egg was mutated before conception.  There is not any linked “cause”…something the father/mother did or did not do to cause the mutation.  It really just happened.  

But, there are other WHY’s: WHY did it happen to my son?  WHY did it happen to our family?  That’s a dark place that I spent way too much time in during the early days of the diagnosis.  

Now, I have different questions:  Does Garrett  realize that he has SMS?  Does it bother him that he is different? 

A few of my SMS mom friends have mentioned some heartbreaking words their children have said about their feelings before or after the SMS “prolonged tantrum” or “explosive outbursts.”  I’m not sure Garrett is that self aware.  Or, maybe I’m just too afraid to ask him.  Some parts of SMS are hard for me to watch, I can only imagine how hard they are for him to endure. 

But then…not so long ago…I found this selfie on my phone.  I call it “Glimpses of Normalcy”.  (And I really hate the world normal.)  It is truly the best picture we have of him.To me , this picture hinted at a Garrett without Smith-Magenis syndrome.    

During these past two weeks of November though, I have been reading stories from other SMS families.  I started to look at this selfie as just that…an actual SELFIE.  Maybe this is how Garrett sees himself.    He may not be able to articulate his thoughts, but a picture is worth a thousand words. 

And, just yesterday, a father shared his daughter’s poem on the PRISMS Facebook group.  It “sounded” so much like Garrett and it moved me to tears. 

Although I  was supposed to be spreading SMS Awareness, Garrett’s selfie and Mallory’s poem taught me more about Smith-Magenis syndrome than I could ever hope to tell. 

Thank you, Mallory's parents for sharing this poem.  

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