BENEFITING: RETT SYNDROME ASSN OF MASSACHUSETTS
ORGANIZER: RETT SYNDROME ASSN OF MASSACHUSETTS
EVENT: 2013 Boston Marathon
I am running the 2013 Boston Marathon as part of Team Rett in support of Alexia Athanassiou, the daughter of a dear friend. I have worked with Achilles Athanassiou since 2006 and am full of the deepest respect for the unfailing love and dedication with which he and his family care for their daughter. Alexia is 12 ½ and was diagnosed with Rett syndrome as an infant, after Achilles and his wife, Christianna, became concerned that she was not meeting her appropriate milestones. Since then, they have worked tirelessly to make sure Alexia is comfortable and as well as possible. They are at the emergency room every few months when Alexia’s seizures become intractable. They have a team of doctors at Children’s Hospital who help with every aspect of her care, from nutrition to neurology. Achilles has arranged their house so that Alexia’s room is wheelchair accessible and outfitted with a lift to help her into bed, a video camera so he can check on her remotely from his iPhone, colorful posters, and even blinking Christmas lights outside the windows which she likes. Recently, when Alexia’s seizure medications were changed, she began seizing almost constantly and became febrile. Achilles was up all night checking her temperature and logging her seizures so he could give her neurologist an accurate report of how she was doing.
Christianna and Achilles have two other children, and they do an incredible job of taking care of Alexia’s special needs while trying to maintain a sense of normalcy in the house. Christianna and Achilles are from Athens and each summer, they take the family to Greece to spend time with their families. Achilles prepares for the trip every summer by shipping over boxes of diapers and Ensure in advance for Alexia, and organizing a complicated series of flights so the journey for Alexia is more tolerable. Alexia loves to bask in the Mediterranean sun and sea and Achilles returns each summer with photos of her floating in the turquoise water. He says she never seems so relaxed and peaceful as when she is in the ocean.
To paint a better picture of Alexia, I asked Christianna to describe her favorite things about her daughter: “Her big blue eyes that look at me with such love and trust, the huge smile she gives me when I hug her and tell her that she is the smartest and prettiest girl in the world and how proud I am of her. But most of all her patience and resilience in dealing with this ‘monster’ called Rett.” Alexia loves listening to music and watching musical videos. She used to go horseback riding, but she had to stop as the farm does not have a hoist to lift her up on to the horse. She does do music therapy twice a week and enjoys it tremendously - she is more alert and responsive during those sessions than at any other time of the week.
In hoping that a cure is found for Rett syndrome, Christianna writes that she wishes for “Alexia at some point walking to me calling me Mom. I often wake up after having seen such a dream.”
We know Achilles and Christianna in all sorts of different ways. They have many friends in the Greek community. Christianna coached their son's soccer team in Sudbury in the spring. Achilles and I have worked side by side at South Shore Hospital and Beth Israel Deaconess Medical Center as obstetricians. Achilles gives his patients the same attention and respect he shows his daughter, and is beloved by patients and hospital staff.
I feel privileged to be a member of Team Rett, running to raise money for research on Rett syndrome. I would like this to be an opportunity for all of us to show the Athanassiou family our support, a chance to demonstrate that we are behind them and think so much of how they handle constant challenges, and a moment for all of us to wrap their cherished little girl in the fondest embrace. And wouldn't it be incredible if endeavors like this could lead to advances in understanding, treating, and preventing Rett syndrome?
Team Rett FundRacers will be raising money for research in hopes that Rett syndrome can be reversed!
Seen almost exclusively in girls, Rett syndrome is a unique developmental disorder caused by mutations on the X chromosome on a gene called MECP2. A rare disease, the incidence of Rett syndrome is about 1 in 10,000 females. The course of Rett syndrome, including the age of onset and severity varies from child to child. As the syndrome progresses, most children lose purposeful use of their hands and the ability to speak. Other symptoms may include loss of motor skills, breathing and cardiac irregularities, seizures, digestive problems, scoliosis, and tremors.
Although Rett syndrome leaves all girls and women dependent on others for all of their basic needs, tremendous advances in research have been made since the MECP2 mutation was discovered in 1999.