November is Smith Magenis Syndrome Awareness Month. Actually the 17th is SMS awareness day.
For those of us living with It in one form or another, EVERYDAY is SMS awareness day.
I want to take a few minutes and try to inform others as to what it is. Not just from my view point. But, from other sources as well.
In 2014 my daughter (Leah Rose) was diagnosed with Smith Magenis Syndrome after almost 2 years of being tossed from specialist to specialist. Cancer scares, feeding issues and so much more....
Smith Magenis Syndrome is a deletion in a specific region of the 17th chromosome. Although Chromosome 17 contains many different genes, it's a specific gene called RAI1 that is missing. Either fully or partially. That one gene makes a world of difference.
To quote
rarediseases.info.nih.gov
"Most people with SMS have a deletion of genetic material in each cell from a specific region of Chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, is responsible for most of these cases...."
SMS is more than just a behavioral syndrome. Although behavior is a huge part of what this gene does.
It is classified as a "developmental Disorder" that effects many parts of the body.
ghr.nlm.nih.gov states
" Smith Magenis Syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mile to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.
Most people with Smith Magenis Syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals. "
Leah was nonverbal until the age of 3.5 yrs old. She is now 5 years old and way more fluent in sign language than she is in English. Although she is getting much better. She struggles with her memory, and with school. In fact she is in her second year of preschool instead of kindergarten. She can't write her name, still struggles with feeding herself..... As the years go by these things slowly improve, but other cognitive things are becoming harder for her. You can see most of the described facial features in her picture above.
She's clearly the sweetest, most beautiful girl I've ever seen. (I suppose I may be partial to that tho.)
Smith Magenis Syndrome doesn't just affect cognitive abilities. It affects many other parts of the body.
Causes self harm and much aggression. Her poor little mind seems to attack itself. At an early age she started head banging. Although many children go through a phase of head banging. This was far more severe and we knew that something was wrong. Most children will stop head banging when it starts to hurt. This poor girl would head bang until she was bruised, bleeding and still wouldn't even cry.
She's always been a thumb sucker and she started ripping her nails out (Completely ripping them out) at about a year old. Even that didn't seem to hurt her. She would only start crying when she saw blood dripping down her hand.
Eventually the aggression started. On her bad days she'd pick lamps up, toys up and toss them at whoever was closest, she'd randomly walk up to someone and start clobbering them.
In 2015 she held her brothers (Almost 11 months younger than herself) head under water while beating him. I had only turned around to grab a towel out of the cupboard.
Leah isn't a strange case. Situations like this are well documented in children or individuals with SMS.
"Children and adults typically have inattention, distractibility, hyperactivity, impulsivity, maladaptive behaviors including frequent outbursts/temper tantrums, attention seeking, disobedience, aggression, toileting difficulties, and self-injurious behaviors. (SIB) including self-hitting, self-biting, and/or skin picking, inserting foreign objects into body orifices (Polyembolokoilamania) and yanking fingernails and/or toenails (onychotillomania). Among the stereotypical behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. The finger lick and page flipping ("lick and flip") behavior may be less prevalent than initially reported. And underlying developmental asynchrony, specifically between intellectual functioning and emotional maturity, may also contribute to maladaptive behaviors in people with SMS."
Leah also struggles with feeding issues, weight gain, severe congenital scoliosis and sleep issues.
She has an inverted circadian rhythm. She has FTT (failure to thrive) and she's had 18 surgeries to correct scoliosis. She continues to need surgery every 5-6 months to lengthen the VEPTR that is inside her back.
"Common symptoms include, distinctive facial features, skeletal malformations,...... Sleep disturbances, and self-injurious behaviors."
As you can see, SMS is very complex. My one post can't even begin to describe what my Leah goes through on a daily basis.
I have to end this for now. But, I really hope that this has been informative.
Following are some links that you can research more about SMS if you so choose.
HELP US GET THE WORD OUT AND RAISE AWARENESS!!!!
Prisms (Parents and Researchers interested in Smith magenis Syndrome)
Smith-Magenis Syndrome Foundation
Genetic and rare diseases information center (GARD)
The Arc
Thank you for making the time to read this. Please share it with others and help us get the word out!
Bre Shafer
