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Youth with Rett Syndrome Make Symbolic Climb Up Stairs of Harvard Medical School

November 13, 2012

Last month, on Blue Sky Girls Day, about thirty youth affected by Rett syndrome gathered with their families, friends and community members for a symbolic climb up the stairs of Gordon Hall, a stately building at the center of the Harvard Medical School quadrangle in Boston.  It was an inspiring scene, demonstrating the strength that comes from working together in the face of adversity—and also one that makes it crystal clear why biomedical research matters.

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Rett syndrome is a rare neurogenetic disorder, characterized by regression during development, often in the ability to talk, walk, and make purposeful hand movements—plus a host of other serious medical problems including seizures, breathing difficulties, scoliosis, and gastrointestinal issues. Usually Rett affects girls and is caused by sporadic mutation of a gene on the X-chromosome called MeCP2.

October 13, 2012 was the second annual Blue Sky Girls Day, celebrated with stair climbing events throughout the world. The ceremony in Boston was organized by families of the Rett Syndrome Association of Massachusetts (RSAM), led by Irene Gladstone of Needham and Jennifer Endres of Yarmouth Port. It began with the reading of a special proclamation by Massachusetts Governor Deval Patrick, recognizing October as Rett Syndrome Awareness Month and calling for continued efforts to improve treatment.

Encouraged by the crowd, the girls who could (as well as one boy with Rett) made their way up the stairs holding the hands of their parents, while others were carried up in their strollers and wheelchairs by firefighters and police officers. Each affected individual—ranging in age from three to thirty-three—was matched with a cheerleader from an area school who had created a personalized poster of support, full of color and glitter.

“To see the girls that can walk struggle their way up, it kind of symbolizes the whole day,” says Jennifer Endres, who in addition to her involvement with RSAM also serves as Family Resource Manager for the International Rett Syndrome Foundation. “Rett syndrome is a challenge, but these girls are fighters and they’re rising to the top.”

The firefighters and police officers who participated in the event were from Rehoboth, MA. The cheerleading group, organized by Jill Twigg, came from Pepperell, Groton and Townsend, MA, and included varsity cheerleaders from North Middlesex High School, coached by Barbara and Amanda Guerrero, and younger cheerleaders from North Middlesex Pop Warner.

Following the climbing ceremony, a reception was held in a nearby neurobiology research building, where the families had a chance to talk with each other and some of the researchers and clinicians attending the event. Amongst them were two scientists leading basic and clinical research efforts for Rett Syndrome in Boston, Michela Fagiolini, PhD, Assistant Professor of Neurology at Boston Children’s Hospital and Harvard Medical School, and Walter Kaufmann, MD, Director of the Rett Syndrome Program at Boston Children’s and Visiting Professor of Neurology at Harvard Medical School.

A Few Words from the Families:

Maren and Ryan Layton of Hanover, NH, with daughters Leah (age 5, who has Rett) and Kate (5 months old)

Ryan Layton on what people should know about Rett syndrome:

“She has so much potential. We ask Leah questions and she can respond to us by eye gaze. For example, she learned about planets the other day and I said, Leah, ‘Are you from Jupiter?’ and she looked away, ‘Are you from Mars?’ and she looked away. ‘Earth?’ and she stared at me….. There’s so much potential there… I think my message to anybody is to understand that.”

Justin and Jennifer Endres of Yarmouth Port, MA, with daughter Jillian (age 9, who has Rett) and sons Griffin (age 4) and Colin (age 3)

Jennifer Endres’ wishes for Rett researchers:

“I just hope that they keep working, and working hard. I think any researcher who meets any one of these girls will fall in love with them. There’s just something about these girls… I wish that every researcher could meet a girl with Rett syndrome. I think that would make him or her work that much harder.”

Irene and Gary Gladstone of Needham, MA, with daughter Erika (age 33, who has Rett), and Michela Fagiolini, a professor and Rett researcher at Harvard Medical School

Irene Gladstone on why Rett awareness matters, and how much it’s changed:

When Erika was young, most people—even neurologists—didn’t know what Rett syndrome was. Her parents were traveling all over the country and consulting all sorts of specialists trying to figure out what was wrong with her development. At the time, many doctors questioned whether the type of regression her parents described was even possible.

It wasn’t until Erika was 5, and a friend referred the family to an article in the Boston Globe, that the diagnosis occurred. “People in the United States were just recognizing it as a disorder,” says Irene. “That’s why I feel so committed to getting awareness out. Because it was in the Globe that day—that’s how we learned about Rett syndrome. How long it would have taken otherwise I don’t know.”

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