Our journey with Smith Magenis Syndrome

“Don’t wipe your hands on the good towel! Use your shirt!” I snapped at my husband, Charlie. He looked at me as if I had lost my mind. “Why do we have hand towels?” he asked me. “For our company to use, not us!” Sometimes he can be so dense. “You need to calm down. It’s not like she doesn’t know what having a son with SMS is like. I’m sure unmatching hand towels won’t offend her.”

Our friend, Yolanda, would know the look of a SMS household: jelly handprints on the TV screen, spilled milk on the kitchen floor ,a box of cereal poured out onto the counter, and new roll of toilet paper completely unrolled onto the floor. “You know what’s really funny?” he asked, while waving the now wrinkled and WET hand towel in front of me. I didn’t. “Yolanda is from Holland.” I still didn’t know what was really funny. “Welcome…to…Holland…” That was funny.

We had come full circle in the years since our son’s diagnosis of Smith-Magenis syndrome. Garrett was eighteen months old when our pediatrician ordered genetic testing. The results showed that Garrett was missing a piece from one of his 17th chromosomes; the diagnosis was Smith-Magenis syndrome, called SMS for short. 

It explained the symptoms we were aware of: low muscle tone- he was late sitting, crawling and walking, feeding issues- he was always choking, high pain tolerance- he never cried over shots and a sleep disturbance- up every night, all throughout the night. But it also predicted symptoms we were not ready to hear: intellectual disabilities, self-injury and autistic-like behaviors. In the early days of the diagnosis, we experienced a “get as much information as we can find” phase that was quickly followed by a “we don’t want to know anything else, ever” phase. And, eventually we discovered the Emily Perl Kingsley essay, “Welcome to Holland.”

Some of those lines really expressed what I felt and other parts…not so much. “‘And you will meet a whole new group of people you would never have met.’” I read that line to Charlie. “Seriously?” I asked. “Is this supposed to comfort me? I already have friends. Thanks anyway.” Although rare, “it is estimated that SMS occurs in 1 out of 25,000 births. SMS is under-diagnosed, but as awareness of it increases, the number of people identified grows each year”. Charlie and I knew all about awareness increasing the number of indentified cases of SMS.

After attending our first PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) conference, we brought pamphlets to our local Autism Support Group meeting.  We had been going for over a year because Garrett’s autistic-like behaviors had been getting more difficult. He would tantrum when transitioning from one activity to another, hit himself over certain noises and become inconsolable after even the slightest changes in routine. We found we had a lot in common with parents of autistic children and wanted to share what we had learned from PRISMS.

One particular woman at the meeting was dumbfounded at the list of SMS characteristics. “This sounds just like my grandson,” she told us. Charlie explained how much Garrett looked like other children we met at the conference: “They tend to have round, cherub-like faces with a mouth that’s downturned. A lot of the kids have thick eyebrows and a large jaw. But the strangest characteristic for us was the SMS voice. It’s hoarse and scratchy…and every kid we met sounded so much like our son.” Charlie took Garrett’s school picture out of his wallet. “That could be Zan,” she whispered.

A few weeks later, Zan’s blood work was sent in for a chromosome test. Robyn, Zan’s mother, called me the day she received the news. “Zan has SMS. Finally! We have answers! And people who understand what we go through as a family.” She was happy. Happy to know there were other children like her son. Happy to learn his behavior problems were not her fault. Happy to meet those people she “never would have met.” After “finding” Zan, Charlie was determined to raise more awareness of SMS. “We could hold a 5K and raise funds for PRISMS at the same time,” he told me. I wanted to continue the sense of community we felt at the PRISMS conference.

Our 5K became an annual weekend event that included a family picnic. When Brandi’s family from Canada mailed us their entry form, we joked that the 5K had become an International event. Brandi’s daughter, Lilli, had been born with a congenital heart defect. It’s a less common feature in SMS (25%-50% of cases), but a reason to order genetic testing which is the reason Lilli was diagnosed in infancy. 

The first time I met Lilli, she was three and rolling across the floor to get around. Today, Lilli is in elementary school and many adults have difficulty keeping up with her. Jean lives in Kentucky with her son, Nico. They have brought friends and family to our 5K, even Nico’s uncle from Mexico attended one year! Although he is only in elementary school, Nico is quite the ladies man. The SMS “self hug”, which looks exactly like it sounds, melts hearts and endears our kids to others. Nico wears hearing aids which is not uncommon with SMS kids, 50%-70% of the SMS population have hearing impairment. Carissa and her family traveled the farthest distance to our event, all the way from Vietnam. Carissa’s daughter, Scarlet, is the second child in a family of three girls and one boy.

Like most SMS families, Scarlet is the only child affected. “Although SMS is caused by a deletion of genetic material, it usually does not run in families” For more information on Smith-Magenis Syndrome visit PRISMS. “We should post photos at the registration table of other SMS families who cannot travel this far,” Charlie suggested. “Wearing our 5K shirts, of course!” So began our photo collection of SMS models across the globe. Chanty, in Alaska, wore our shirt in front of the local fishing boats. Chanty was born with renal abnormalities which affect less than 25% of people born with SMS. She and her mother, Barb, had to fly to a hospital 3 hours away when Chanty needed to have one of her kidneys removed. Despite some pretty scary health issues, Chanty is a chatty teenager with a fondness for visiting families on the PRISMS facebook group. Her uplifting comments get more likes than anything I have ever posted!

Sierra’s mom, Denise in New Mexico, photographed Sierra at the Albuquerque International Balloon Fiesta. Sierra sleeps in an enclosed bed to ensure she does not leave the house while the rest of the family is sleeping. With the SMS disturbed sleep cycle, Sierra wakes up in the middle of the night and rises early in the morning. Rachel, from South Carolina, posed for her mom, Julia, in a grove of Sabal Palmetto trees. Rachel loves to play on electronic games, the DSi being her most favorite. People with SMS have developmental disabilities, yet they retain knowledge for electronic gadgets so well that parents often rely on their SMS child for technical support. Seth, in Oklahoma, sat on a gate in front of an oil field, while wearing a black cowboy hat and holding the reins of his horse. Seth’s mom, Tara, and I joked that our boys were “twins” who were somehow born to different mothers. The common facial features of Smith-Magenis children can be eerily similar. People with SMS also tend to be short in stature and have small hands. Sam, in England, was supposed to wear his shirt at tea time. His mother, Salli, sent me a photo of Sam on the couch while holding what appears to be a coffee mug. I could not see a silver tea set or finger sandwiches being served by a butler. Obviously not tea time, but I appreciated Salli’s effort. Sam has practiced so hard stacking cups (red solo cups into a pyramid shape) that he has mastered the skill. Usually, the low muscle tone creates a frustration for the kids.

However, when a child with SMS becomes fascinated by an activity (stacking cups, riding a bike, jumping rope); they show a strong determination to achieve that goal. Ironically, the gift Yolanda brought back to Holland for her son Tijmen was a red solo cup. He collects them and appreciated that souvenir more than a toy or stuffed animal. She and I shared many of the same concerns for the siblings of our special kids. Yolanda decided to bring her typical son, Beerten, to the conference with her. 

Despite the language barrier, my sons and Beerten were able to play Minecraft and baseball for hours - bonding with a stranger who understood what it meant to have a brother like Garrett. November 17, 2014 is World Smith-Magenis Syndrome Day. And I am so very grateful for the privilege to know and love a “whole new group of people (I) would never have met.”

For more information on Smith Magenis Syndrome in the UK visit the Smith-Magenis Syndrome Foundation UK

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