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This is a Story of a Little Girl with a Rare Neurological Disease

This is a story of a little girl. She came into this world like any other happy and healthy little girl. Her parents, who already had two older sons, called her their princess. The princess soon started to smile, reach and giggle. Family bonds flourished. She played with her doll, took her first steps and spoke several words by the time she was one. But then, something strange started to happen to the princess: her hands could not hold the doll anymore, she lost her words and by the time she was three, epileptic fits started to strike. The world of giggles, toys and parental ambitions was replaced by feeding tubes, plans for special education and worries about her future. Her life of joy became a life of isolation. From the moment she was conceived she was destined to develop Rett Syndrome, but nobody knew.

Rett Syndrome is a genetic disease that affects brain development. The girls are born with the normal number of typical looking brain cells and the initial stages of brain development proceed in an undisturbed way, but by age one, when the brain cells are supposed to branch and brain activity and development literally "explode," the presence of a mutation on the X-chromosome blocks this branching process.

The Rett Center at The Children's Hospital at Montefiore was born out of the optimism brought by scientific discovery that even in the most severe stages of this disease, animals with Rett Syndrome can be completely cured. Because we believe the day will come when girls with Rett Syndrome will be cured at the Rett Center, we are focused on providing medical care that is the absolute best available. At the moment, we are enrolling patients into our first trial with the hope of improving the girls' symptoms, including motor problems, seizures, disordered breathing, poor attention and memory. We are working closely with a multidisciplinary team of specialists and scientists across the country to develop the most efficient, novel strategies for these girls.

You know, there was one thing that the princess from our story did not lose - the clarity and the warmth of her eye gaze. Our research has, for the first time, provided objective evidence that girls with Rett Syndrome see the world in the same way other children see it: they remember, they feel emotions and have thoughts. But these princesses are locked in their bodies and cannot move.  To end their isolation we have developed special communication tools and strategies, we teach them how to "talk without words" in the way deaf children and their families do through sign language.

I met this little princess when she was two years old. Her parents carried her into my office and did not believe that she even knew her name anymore. Quickly we worked together and showed them how to communicate. Before long their princess was able to tell them when her tooth was hurting, when she did not like dinner and she started to make jokes! All of this transformed the atmosphere in their home and her parents never forget to thank me for showing them that their little princess was inside.

When these girls come for their appointment and look at me I know they are asking me to please unlock them. I go to sleep every night and wake up every morning with the same conviction. The question of being able to unlock them is not a question of if, but a question when.

Aleksandra Djukic, MD, PhD is director of the Tri-State Rett Syndrome Center at The Children's Hospital at Montefiore and associate professor of Neurology and Pediatrics, The Saul R. Korey Department of Neurology, Albert Einstein College of Medicine.

Posted by blogmoderator on 10/15/2013 at 10:39 AM Add Comment