My 55-year-old son Jonathan has SMS. He has many physical and developmental features that are characteristic of SMS, such as a broad forehead, arm hugging/squeezing, distinct broad-based gait, hearing impairment, and he behaves like a young boy, reading and communicating closer to a ten-year-old. When he was younger, he got frustrated to the point of rage like so many with SMS, but his curiosity and smile would light up a room.
SMS, a rare neurobehavioral disorder, is globally underdiagnosed, occurring between 1 out of every 15,000 to 25,000 births — which could mean at least 300,000 people worldwide have SMS. To my knowledge there are fewer than 2000 individuals currently diagnosed with SMS. Smith-Magenis Syndrome is caused by particular genetic changes on chromosomal region 17p11.2, which contains the gene RAI1.
We need more people in the world to know about this disorder. That means doctors, teachers, mothers, fathers, therapists, dentists, emergency departments, etc. And we need more money to support struggling families and to continue the research that is being conducted at research centers and major hospitals.
My wish is that through raising awareness campaigns like this Kilimanjaro climb to the roof of Africa, more people will be informed about the characteristics of this complex disorder and receive support from PRISMS.
Contact me Connie Bessette at cbessett4@gmail.com or info@prisms.org for more information. Join us in this challenge.
