{"id":2311,"date":"2018-04-11T11:55:29","date_gmt":"2018-04-11T15:55:29","guid":{"rendered":"https:\/\/www.monmouth.edu\/magazine\/?p=2311"},"modified":"2020-10-06T11:55:25","modified_gmt":"2020-10-06T15:55:25","slug":"language-of-love","status":"publish","type":"post","link":"https:\/\/www.monmouth.edu\/magazine\/language-of-love\/","title":{"rendered":"Language of Love"},"content":{"rendered":"

For the first year after the birth of Theresa Bartolotta\u2019s daughter, Lisa, everything went along seemingly well.<\/p>\n

The infant was quick to smile, and though she took a bit longer than Bartolotta\u2019s son had to sit independently, she eventually got it. Lisa started pulling to stand up at around 10 months, well within the normal time frame. Shortly after, she started \u201ccruising,\u201d holding onto the wall for support as she made her way into her older brother\u2019s room to knock books off his shelf.<\/p>\n

Every milestone was happily recorded by Bartolotta in a new baby book.<\/p>\n

Then one day, at around 14 months, Bartolotta noticed something peculiar. Lisa kept saying one particular word, \u201cbleeka,\u201d over and over. Curious, Bartolotta recorded the phrase in her book. It ended up being the last entry she made.<\/p>\n

\u201cKids usually go \u2018ba ba ba ba\u2019 and \u2018ba, da, da, da,\u2019 and Lisa would go \u2018bleeka, bleeka, bleeka\u2019 all day,\u201d says Bartolotta, a professor in the Department of Speech and Language Pathology. \u201cAnd it took me a long time, probably a month, to talk to someone to say something\u2019s not right.\u201d<\/p>\n

Lisa\u2019s path along normal development hit a road block, and after months of doctors\u2019 visits, she was diagnosed at 18 months as being \u201cdevelopmentally delayed\u201d and exhibiting \u201csome features of autism.\u201d Bartolotta was told to get Lisa into early intervention as soon as possible, and while she did, Lisa\u2019s condition didn\u2019t much improve.<\/p>\n

It wasn\u2019t until a decade later, in 1999, when the gene mutation for Rett syndrome and its associating symptoms was identified, that Bartolotta felt she may have found an answer for her daughter\u2019s wide-ranging symptoms. Despite the fact that neurologists brushed the idea of a Rett diagnosis aside\u2014one simply said, \u201cOh, no, you don\u2019t want her to have that\u201d\u2014Bartolotta and her husband drove Lisa to Johns Hopkins University School of Medicine in Baltimore, Maryland, one of only two hospitals in the country testing for the disorder at the time. After nine months of waiting, in early 2000, she got the results: Lisa did have Rett syndrome. She was 11 years old at the time.<\/p>\n

\"Gerard
Gerard Saydah and his daughter, Michelle, who was diagnosed with Rett syndrome. Faculty, students, and licensed speech-language pathologists at Monmouth\u2019s Center for Speech and Language Disorders are working with Michelle to improve her communication abilities.<\/figcaption><\/figure>\n

An Insidious Disease<\/h2>\n

Rett syndrome is a rare, largely non-inherited, genetic neurological disorder that occurs almost exclusively in females. The mutation of the MECP2 gene on the X chromosome, which occurs spontaneously during early development prior to birth, affects one in every 10,000 to 15,000 girls born worldwide, with no regard to racial, ethnic, or socioeconomic background.<\/p>\n

The MECP2 gene encodes the protein by the same name that is found in all neurologically derived cells in the human body. It is essential for the normal function of neurological development, but too much or too little of the protein leads to severe abnormalities of cell function\u2014too little of the protein leads to Rett syndrome in girls, while too much of the protein leads to MECP2 duplication syndrome, which contrary to Rett, occurs almost exclusively in males. (See sidebar, below.)<\/p>\n

Typically, girls born with Rett develop normally up to the first 18 months of age, at which time their development slowly begins to regress, causing them to lose previously acquired skills. Those living with Rett are affected by myriad symptoms, which exist on a spectrum similar to autism, and typically includes delayed growth, microcephaly, impaired communication, and unusual eye and hand movements as well as loss of functional use of the hands. They are prone to irregular breathing habits, such as holding their breath; they often have cardiac, circulatory, and digestive impairments; and over 80 percent have seizures, which can be severe enough to cause death.<\/p>\n

The disease is often described as having symptoms of autism, cerebral palsy, Parkinson\u2019s, epilepsy, and an anxiety disorder all wrapped into one.<\/p>\n

The Communication Barrier<\/h2>\n