taleS froM the trencheS: SMS Awareness Day 2014: The Selfie and The Poem

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 17^th 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 17^th 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 17^th 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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Operation Order:

Although every parent dreads the day a sheriff’s deputy stands at the front door with her child; only we unique moms get to experience this event with our first grader, dressed in his favorite Dora pajamas, who tripped the home alarm system in the middle of the night. Yes, I said “his” favorite Dora pajamas. My blog, “taleS froM the trencheS”, tells the paradox of our “normal” family that just happens to be a little different.

When our first child, Garrett, was diagnosed with Smith-Magenis Syndrome (SMS) at 18 months, my husband and I were terrified to live in a world we had never even visited. Autistic-like issues, a disturbed sleep cycle and the self injurious behaviors that accompany this genetic condition can make life more difficult. But fifteen years and two brothers later, Garrett keeps us laughing despite the challenges.

Stories about our adventures are entertaining, but the bag of tricks we have acquired as Garrett’s parents are beneficial to any family living with sensory integration issues. The bus ticket he hands the driver each morning helps him make that difficult transition from home to school. (The bus ticket looks a lot like the roll of raffle tickets you can buy at Wal-mart for ten bucks.) We have a shopping bag with check lists and coupons to keep him occupied at the grocery. He has a bag at church with the directory of everyone’s picture and nativity finger puppets to act out the sermon. Sometimes we have more “bags” than “tricks” and are not able to stay this one step ahead of Garrett.

Another difficult step in the SMS Dance is trying to balance our younger typical children and their activities. My husband, Charlie, and I have to take turns staying home with Garrett or attending Little League games. It isn’t fair, but neither is life. I already know that my poor decisions today will employ a shrink twenty years from now, but I hope my awesome oatmeal cookies will keep a tether to my sons.

Although this is not the life we had planned, we are still going strong despite the extra stress of medical bills, sleep deprivation and a decade and a half of Barney videos. Did you catch that? Fifteen years. Of the purple dinosaur. We do not see an end in sight.

Laughter helps. But the cure is in the coffee.

taleS froM the trencheS