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Understanding Rett Syndrome

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Understanding Rett Syndrome Special Needs Understanding Rett Syndrome The signs of the rare, life-altering Rett syndrome are often missed by doctors. For the mostly girls affected by Rett, intense therapy is required to manage the disorder. By Amber Greviskes Rett is a neurodevelopmental on the stage the child reaches, disease that begins in infancy or treatment plans are created that early childhood and is seen almost may include regular visits with more exclusively in girls. According to the than a dozen doctors and specialists. National Institute of Neurological “Treatments geared at improving Disorders and Stroke, Rett affects quality of life and maximizing about one in every 10,000 to 15,000 levels of independence are key,” girls born each year. These children Dr. Milhaila says. “Occupational, are usually born healthy and show physical, feeding, and speech or normal development until they’re six language therapies are all integrated to 18-months old. At this point, new into a child’s medical management skills stop developing and a period of of the disorder as well.” regression begins that includes losing communication skills, hand use and, Research, Confusion, and Hope at times, walking ability. The child’s The main reason that treatment head stops growing at a normal rate. focus is on improving the quality Although each child experiences of life is because there is presently Rett differently, the child may wring no cure for the disease. However, her hands, have breathing problems, the identification of the gene muta- seize, or cry inconsolably. The con- tion that causes Rett in 1999 has led dition can mirror autism, cerebral to new research. Two years ago, Rett palsy, or non-specific developmental was reversed in animals. Scientists are delay. Rett’s wide-ranging symptoms now determining ways to reverse the can influence every aspect of the mutation in humans. child’s—and family’s—life. After the initial diagnosis, “For the parent, the most frus- Rothschild sought information trating part of the condition is the from numerous sources, including fact that there was normal develop- websites, which she now regrets. ment initially,” says Christine J. Many only reinforced the family’s Milhaila, Ph.D., a neuropsychologist fears, made the Rothschilds feel at The Brain Specialists in Nassau more alone, or confused them. It County. “Additionally, there is the wasn’t until Zoe Rothschild was occasion of misdiagnosis, which referred to the Rett Syndrome only adds to frustration.” Center at The Children’s Hospital at Montefiore in the Bronx that her Varying Symptoms family began to receive answers from Rett, which is not inherited, can an 18-specialist team that focuses on be diagnosed by the presence of children with Rett. an X-chromosome mutation, called Aleksandra Djukic, M.D., the an MECP2 mutation. The sever- director of the Rett Syndrome Rett’s symptoms can seem like those of autism, cerebral palsy, Parkinson’s, ity of the disease is determined by Center, encourages her team to epilepsy, and anxiety disorders—all at once, all in one little girl. the location and type of mutation, improve the patient’s quality of life, which causes the variation in symp- increase her communication ability, oe Rothschild of Stamford, it became apparent that Zoe had toms among children with Rett. The and discover ways to assist in learn- ZConnecticut, was a happy Rett Syndrome. disease can be diagnosed through ing. Research has shown that the child. She never crawled, but Of the genetic testing experi- a blood test or a clinical diagnosis girls have a normal brain foundation. scooted around on her bottom. ence, “there’s a list of everything based on signs and symptoms. When they are given access to special Then, her vocabulary stalled, and they’re testing the child for, and you Although there are four stages of communication tools, it’s possible daycare teachers encouraged Rachel, know there are certain ones—like Rett, children will spend most of for them to express feelings, identify her mother, to visit her pediatrician. Angelman’s and Rett syndrome— their time in Stage III, the plateau characters from books, or even make But it wasn’t until genetic tests were that are considered the ‘bad’ ones,” stage, or Stage IV, when motor television or music clips play by ordered (after a period of continuous Rachel Rothschild recalls. “Our doc- development is lost. Children who following simple instructions. therapy with physical, occupational, tor said they’d start with the worst never develop motor skills move “It’s obvious that they understand and speech therapists that did not ones and work their way backward. immediately from Stage II, the rapid you,” Dr. Djukic says. “They just positively impact her symptoms) that Rett was the worse-case scenario.” destructive stage, to Stage IV. Based can’t communicate.” 58 June2011 www.nymetroparents.com Making Connections Pioneers at Montefiore communicate in new ways with patients. One of the most devastating parts of Rett Syndrome is its ability to affect every aspect of the young patient’s life. Although Rett is a neuro- logical disorder that affects ST each child differently, it can THE 1 ANNUAL be best described as having symptoms of Parkinson’s SPECIAL NEEDS KIDZ FAIR Adi Talwar disease, cerebral palsy, Dr. Aleksandra Djukic uses eye-gaze technology autism and epilepsy in one. JUNE 5TH, 2011 FROM 11AM – 4PM with five-year-old patient Maeve Curry at the Rett Syndrome Center at the Children’s Hospital Until recently, doctors were Radisson Hotel New Rochelle at Montefiore. Using the device, children can unaware of how much chil- Admission is FREE!!! even get a song or video to begin playing dren with Rett understood. just by staring at the screen. However, it has become ENTERTAINMENT CARNIVAL GAMES RAFFLES apparent that those with Rett have brains with a normal foundation. The SILENT AUCTION & MORE neurons in their brain do not work as quickly as those in others’ brains, but they are still intact. This fun filled day will include a showcase of different products and services for special For parents of those with Rett, this means that their daughters are capa- needs children of all ages and abilities. In addition to great information for parents and ble of understanding much of the world around them. However, without caregivers, come and meet children’s author Artie Bennett (ArtieBennett.com). There voices or the ability to point at preferences, they have no way will also be entertainment, games, raffles, a silent auction and a lot more! to communicate. “These girls are imprisoned in their own bodies,” says Aleksandra A percentage of the proceeds from this event will be contributed to Djukic, M.D., director of the Rett Syndrome Center at The Children’s the Tourette’s Syndrome Association-NY Hudson Valley Chapter. Hospital at Montefiore in the Bronx. “They cannot communicate with the world in normal ways.” New eye-gaze technologies that are housed at Montefiore, however, (914)502-3295 [email protected] are making communication possible. The eye-gaze system, which costs between $10,000 and $15,000, tracks eye movements using cameras and reflected infrared light when the patient is seated in front of the eye-gaze summer musical theater workshop monitor, which is very similar to a computer screen. Monday, June 27–Friday, August 5 Children may, for example, be asked to identify a specific cartoon char- acter from among numerous others; the children who cannot gesture are Beauty and the Beast MUSIC Monday, June 27 to Friday, July 22 (4 weeks) able to point out the character by staring at it. Other times children may CONSERVATORY Musical Theatre Intensive be able to activate music or play videos by staring at certain images. OF Monday, July 25 to Friday, August 5 (2 weeks) For parents who have spent years trying to communicate with their WESTCHESTER For students ages 10-16 (maximum enrollment daughters, finally knowing that their daughter understands language can 30 students). Work with Broadway theatre be overwhelming. professionals and teaching artists. Take one In fact, when the Rett Syndrome Center opened, many research- ERR program– or both for a varied and exciting ers expected that the team’s first focus would be on feeding, which is a SSSUUUMMMMMMEER 6-week theatre experience! physical need. However, after surveying parents of children with Rett, it Please visit became apparent that communication should be a main focus. With the !! music & arts program MusicConservatory.org AAATTTMMMCCCWWW! for complete ability to communicate through eye-gaze technologies, children can make Tuesday, July 5–Friday, July 29 information on all choices (like what to have for lunch), express pain, or show that they are programs capable of learning. Four weeks of FUN in music, art and theatre for children ages 6–11. “The eye-gaze test shows that there is a cognitive process going on,” Instrument classes, arts & crafts, glee Dr. Djukic says. “To communicate through language is a very human club, children’s musical theatre. Half, full need—it’s what makes us human. The eye-gaze technology opens up the and extended-day options are available. world of communication for these little girls.” SUMMER 2011 For Zoe and Rachel Rothschild, she continues to be happy and (rela- Affordable tuition– Earlybird discounts being able to communicate would tively) healthy, and I hope for a cure. MORE available for be a huge step in their relationship. When you deal with the day-to-day, some programs! Rachel realizes that Zoe has more you have to believe that there’s a For more information please complex thoughts than those that cure. That’s what keeps me going.” visit our website PROGRAMS musicconservatory.org, express basic physical needs; but, like call 914-761-3900, many children with Rett, she can According to Rett Syndrome Research Trust, or email [email protected] only make sounds.
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