Smith-Magenis Syndrome

November 1, 2004 by  
Filed under Edit

Family’s plight promotes awareness about Smith-Magenis Syndrome

When Fox 26’s Chief Meteorologist Cecilia Sinclair and her husband adopted their daughter, Sarah, they couldn’t imagine the wonderful changes she would bring to their lives. The joy their adorable daughter brings is unfathomable, but parenthood brought more than the normal complications for the Sinclairs.

When Sarah began missing major childhood milestones, like speaking, crawling and walking, they took her to a specialist who, through a blood test, diagnosed Sarah with Smith-Magenis Syndrome (SMS).

Taber’s Cyclopedic Medical Dictionary describes SMS as “a rare form of genetic mental retardation characterized by chronic ear infections, erratic sleep patterns, head banging, picking at skin and pulling off fingernails and toenails.”

While no cure exists for this genetic syndrome, the symptoms can be managed and treated. Children with SMS benefit most from therapy, which helps with speech delays, communication, fine motor skills and toning muscles. People with SMS respond well to consistency, structure and routines, as well as affection and praise.

After Sarah’s diagnosis, the Sinclairs’ team of doctors encouraged them to test Sarah’s heart, kidneys and other organs for problems caused by SMS. They found a renal abnormality that could have caused her to lose a kidney but was easily fixed with surgery. Sarah also experiences hearing loss; she is already learning sign language in case she loses her hearing completely.

The biggest problem in the Sinclair house is Sarah’s sleep disturbance. Though medicines do not usually help SMS-created problems, the Sinclairs have some success with melatonin, a hormone that helps regulate sleep. In addition, Sarah sleeps in a Vail Bed, an enclosed bed that encourages restful sleep and controls wandering.

The Sinclairs delight in their daughter, who is now 3. Cecilia mentions, “Sarah loves life, and she already expresses her sense of humor.”

Cecilia offers one word of advice: “Awareness. As more people learn about SMS and understand it, more people with SMS can be helped.” Because of early intervention, various therapies and spreading awareness of SMS, the Sinclairs better understand their daughter and can celebrate with her each and every accomplishment.

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