Triangle moms trying to raise awareness of rare genetic syndrome called SMS
RALEIGH (WTVD) -- Coming up next week on November 17, families all over the world will be trying to raise awareness about a rare syndrome called Smith-Magenis Syndrome, or SMS. It's a developmental disorder that stems from an abnormal chromosome. Although it only affects 1 in 25,000 people, there are at least four families with SMS children living in or around the Triangle.
Eight-year-old Skylar Rukas of Hillsborough is one of them.
"She was diagnosed at 4 days old. When she was born, she was low on oxygen, and she actually looked like she had Downs Syndrome," Skylar's mom Jennifer Rukas shared.
However, full genetic testing revealed it was SMS, a developmental disorder that affects many parts of the body, including intellectual disabilities, distinctive facial features, sleep disorders, and behavioral problems.
"Hitting her head, pinching her skin, stuff like that, which has probably been the most difficult," admitted Jennifer.
In all, there are only around 600 people in the world who have been diagnosed with SMS, although that number could be much higher since often the syndrome is misdiagnosed as autism, epilepsy, or Down syndrome. But, despite the rarity of the condition, the Rukas's have found support through another local family who they met on a Facebook page for those dealing with SMS. But unlike Skylar, Jessica Lockhart's daughter Sophia wasn't diagnosed till 18 months, despite her mother's early concerns.
"When she was born, my first reaction was, I asked my mom, I asked the doctors, what's wrong with her?" Jessica Lockhart recalled.
Doctors initially dismissed her fears, but almost a year and a half later, Sophia was diagnosed with SMS, leaving her with a host of similar problems.
"She wakes up on average 4-5 times a night, so we kind of take turns getting up with her. So, we're not very well-rested, ever," Jessica explained. She says her daughter Sophia is also prone to meltdowns just like Skylar.
"If she gets upset - how you approach it - she can be fine or she can blow up and have a tantrum, so it's very, you're always walking on eggshells," Jennifer shared.
These moms say, because it's so rare, schools are often unfamiliar with the syndrome and don't know how to handle it, which is one of the reasons why they're trying to raise awareness. They also want insurance companies to help cover the necessary therapies to deal with the many side effects and symptoms of the syndrome. But for now, they'd at least settle for raising public perception of this, both to help more children be diagnosed early, and also to ease some of the judgment they've felt themselves as a result of their children's behavior.
"It's really, really hard for me being out in public and her having meltdowns - feeling like people are judging me. I just want people to understand that when things like that happen, you see a kid having a fit, it's not just black and white, there could be other things going on," Jessica stated.
For more on the syndrome and possible warning signs along with various support groups:
https://www.facebook.com/prisms.smithmagenis
https://www.facebook.com/pages/I-love-somebody-with-Smith-Magenis-Syndrome/245440396456
