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USM BSN Student Travels to Australia to Participate in the Smith-Magenis Camp

Personal Story

Gail Kopp, an online RN to BSN student at the University of Saint Mary, has been a registered nurse for 21 years in the field of Oncology, but had to quit 7 years ago to care for her daughters. Traveling to therapies and frequent physician appointments were difficult to schedule around work. See, Gail’s eldest daughter is dyslexic, and to help fight this battle she has not only become a dyslexia reading tutor, but a parent advocate for special education. Her other daughter was diagnosed with Smith-Magenis Syndrome and Gail has been active in the research of this syndrome as well. She also had to fight to keep her daughter in public school as administrators wanted her in a special education school. Gail participates in conferences held by Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS), and her daughter is also part of two National Institutes of Health (NIH) studies involving natural history follow-up. In July of 2008 her daughter went to NIH for her second study of light therapy/melatonin. According to www.prisms.org:

Smith-Magenis syndrome (or SMS) is a chromosomal disorder characterized by a recognizable pattern of physical, behavioral, and developmental features. It is caused by a missing piece of genetic material from chromosome 17, referred to as deletion 17p11.2.

Common features include: characteristic, yet subtle, facial appearance, infant feeding problems, low muscle tone, developmental delay, variable levels of mental retardation, early speech/language delay, middle ear problems, skeletal anomalies, and decreased sensitivity to pain. The syndrome also includes a distinct pattern of neurobehavioral features characterized by chronic sleep disturbances, arm hugging/hand squeezing, hyperactivity, and attention problems, prolonged tantrums, sudden mood changes and/or explosive outbursts and self-injurious behaviors.

Ann C.M. Smith, M.A., D.Sc. (Hon) a genetic counselor, and Dr. R. Ellen Magenis, a physician and chromosome expert, described the first group of children with this deletion in the 1980’s. Most people with the diagnosis have been identified since 1995 as a result of improved laboratory techniques that allow the accurate detection of this chromosomal deletion. Although the exact incidence is not known, it is estimated that SMS occurs in 1 out of 25,000 births. SMS is under-diagnosed, but as awareness of it increases, the number of people identified grows every year.

In November of 2008 Gail joined Ann C.M. Smith, M.A., D.Sc. (Hon) in Australia to participate in the Smith-Magenis Camp Breakaway, a camp that provides respite for children and families dealing with SMS. While there, Gail gathered data on the children and brushed up on the latest research. During the camp, parents had three days of uninterrupted sleep and gourmet meals every night with entertainment. Moms and Dads also received some well needed pampering such as makeovers, golfing, and massages. SMS children and their siblings enjoyed days filled with fun activities. For these families, meeting with Ann and having the opportunity to network and bond with other parents going through the same experiences was invaluable.

Gail assisted Ann and helped wherever needed during the camp. She set up the clinic to conduct intake measurements for height, weight, abdominal and head circumference, and facial, hand, and feet photographs. She along with several other volunteers, collected sputum samples to measure melatonin. On one particular day Gail had one of the children become her special assistant, helping collect samples by making sure each package was filed away correctly.

Even with her busy schedule and all her contributions to dyslexia and SMS, Gail enrolled in the Online Bachelor of Science in Nursing Degree Program at University of Saint Mary in the Spring of 2008. She has completed one year of study so far and is anticipating graduation in Fall of 2009. Gail is taking nursing research right now and is beginning to understand the makeup of the SMS study. As she reflects on her current course work in the BSN program, she can’t help but focus on theology. “The giving nature of the parents, researchers and volunteers is incredible. I find a common bond and a spiritual hold with these incredible people who come to help. I’ve never been so exhausted having so much fun and pure joy of taking in the atmosphere.” With families that are dealing with this syndrome so widespread, Gail hopes that one day Camp Breakaway can be found all over the United States.

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