Reprinted from Caledonian Record
Governor Sununu has issued a proclamation recognizing October as Rett Syndrome Awareness Month. Rett Syndrome is a severe neurological disorder, caused by a sporadic mutation of the MECP2 gene on the X chromosome, which occurs almost exclusively in females. Although males can also be affected, most do not survive to childhood. It is rarely inherited, but can randomly strike any expectant family, regardless of race or ethnicity. Rett Syndrome becomes apparent after 6 to 18 months of early normal development. This is followed by a period of regression that leads to lifelong impairments. Those affected by Rett Syndrome have little purposeful hand use due to unusual repetitive hand movements. Speech is lost, seizures develop, and scoliosis occurs. Irregular breathing patterns, digestive issues, and orthopedic problems are common. More than half of affected girls and women lose their ability to walk. The most severe handicap is apraxia, the inability to carry out intended movements. Girls diagnosed with Rett Syndrome will require lifelong maximum assistance with every aspect of daily living. Although more than 50 percent will live to age 50, females with Rett Syndrome are at risk for sudden, unexplained death due to cardiorespiratory compromise or uncontrolled seizures. A girl is born every 2 hours with Rett Syndrome.
Although there is no cure at this time for Rett Syndrome, great strides have been made since the discovery of the responsible gene in 1999. The International Rett Syndrome Foundation (IRSF), a not-for-profit 501 (C) (3) corporation, has invested more than $44 million toward biomedical research projects focused on discovering treatments and clinical applications for patients with Rett Syndrome. Studies suggest Rett Syndrome and related disorders are reversible even in the late stages of the disorder. IRSF directs 91 percent of every dollar raised to research and family empowerment.
“We are pleased that Governor Sununu has joined a number of other state governors in proclaiming October 2018 Rett Syndrome Awareness Month and drawing attention to this devastating disorder,” stated Julia Whitcomb, NH Regional Representative for IRSF, which lists 20 families affected by Rett Syndrome in New Hampshire. Ms. Whitcomb is the mother of Abigail, 28, who was diagnosed with Rett Syndrome in early childhood. “Life is a difficult journey for our girls, but we are optimistic that we are closer than ever to new treatments and someday a cure. Each day with our girls is a gift as we seek opportunities to enhance their lives.”
To learn more about Rett Syndrome and IRSF, visit www.rettsyndrome.org.