taleS froM the trencheS: Anniversary of Smith-Magenis Syndrome Diagnosis

Monday, April 2, 2012

Anniversary of Smith-Magenis Syndrome Diagnosis

Sometime in this first week of April, it will be eleven years since Garrett was diagnosed with Smith-Magenis Syndrome (SMS). I can not believe that I have forgotten the exact date, but I think that's a good thing!

Charlie and I were shocked at the news. We thought Garrett's motor delays (the only SMS symptom obvious to us at the time) were due to his chronic ear infections (also a common problem for children with SMS). Charlie was one week into the fire academy and we had just learned that our second baby, due four months later, was going to be a boy.

The dream job. Our perfect family. Everything changed in one afternoon.

Finding support for our family:

Our pediatrician could not find any information about SMS in his text books. He called Children’s Hospital Genetic Clinic and they faxed over one page about SMS.

One page. We were told that our toddler had a syndrome that was life altering from who we thought he was.

Eight paragraphs. And the only information we had about this syndrome fit on the front side of an 8 x11 sheet of paper.

At least 200 really, really big words. The majority of that information we could not understand.

Three pictures that scared us to death. Those horrible “medical pictures.” As strange as it sounds, I could not even see Garrett’s adulthood in color. Every vision I had of him was in black and white with a bar over his eyes.

And hundreds of questions unanswered. What was going to happen to us?

Finally, we located the PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) website.

It was early 2001 and we did not have “The World Wide Web” in our house. My Aunt Patty found the website, but I cannot remember how….was Google alive eleven years ago? She printed off several stories written by parents and brought them to our house.

Encouraging stories (click here)! With colored pictures! Not only were these kids smiling, but there were no black bars across their faces.

Then, we joined the non-profit organization. And they mailed us a packet full of every back issue of their newsletter, “The Spectrum.” (Past "Spectrum" issues are now posted on the website here.)

We pored over every single word of those articles. It was surreal to go from eight paragraphs to pages and pages of information.

Information for Families

Research Updates

Medical Issues

And my favorite, stories from other SMS families.

What a difference from those eight paragraphs!!

We are celebrating our 11 years with PRISMS with a fundraiser to help with the cost of this year's PRISMS conference in Denver, Colorado (go here for more info). Click on the First Giving box at the top of the page to make a donation in Garrett's honor. Thanks!

1 comment:

JuliaApril 2, 2012 at 6:56 PM
Well written! Similar to what we experienced, but I was told over the phone and the doctor gave me nothing except the Prisms website (Thank goodness for that!). I was then glued to the list serve run by Steve Thomas (Thank you Steve!). There were things I didn't want to hear on the list serve, but no one sent me an awful email like you got. I may not have been back on line either!! Thank you Tina, for your wonderful writing and story telling. You are the best!
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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