SMS Awareness

What is SMS?

VOL.1

November is SMS awareness month, specifically November 17th being SMS Awareness DAY, so to start i’m going to explain what exactly SMS is. SMS is short for Smith-Magenis Syndrome, which is the deletion of chromosome 17p11.2, in other words the deletion of the 17th chromosome. This syndrome is a rare genetic disorder that occurs in 1 of every 15,000-25,000 births, though with more wide spread technology being able to diagnose this much easier than years prior, the diagnosis still remains under heavy research and very much so, under diagnosed. This syndrome is diagnosed through a clinical chromosome lab testing. Smith-Magenis Syndrome can be passed along through family members if is genetically connected to the child, though a majority of the time, as well as in our case, it was a random deletion not inherited. This deletion happens when the mother is pregnant though with no specific cause, and can be found out soon after baby is born, although a lot of parents/caregivers don’t start to question their children’s growth until around 3-4 months old when they have expected milestones to meet.

Smith-Magenis Syndrome has alot of symptoms such as

• Anxiety
• Aggression and Frequent outbursts
• Impulsiveness
• Difficulty paying attention
• Self injury such as biting, hitting, skin picking or scratching, and headbanging
• Repetitive self hugging
• Low muscle tone
• Hoarse voice
• Middle ear problems
• Short fingers and toes
• Flat feet
• Decreased sensitivity to pain
• Feeding problems
• Difficulty swallowing
• Speech delay
• Sleeping problems such as sleep apnea, insomnia, and more..
• Sensitivity to light and sound
• Arm/hand flapping
• Excellent long term memory

Facial feature symptoms can include

• A broad square shaped face
• Deep eyes
• Full cheeks
• Prominent lower jaw
• A “flattened” appearance in middle of face and bridge of nose
• A downward facing mouth with a full outward curved upper lip

Now that you are aware of what SMS consists of, I will go into a few stories of SMS warriors as well as Arielles story from my point of view being her mother.