Excerpted from: Special Educational Needs Magazine
Wednesday, 06 April 2011

Author Rachael Bloom is Co-founder & Chair of Rett Syndrome Research Trust UK and the mother of a fifteen-year-old daughter with Rett syndrome:

Rachael Bloom explains the chilling reality of Rett syndrome and sees signs of hope in a major scientific breakthrough.

Ever since Rett syndrome was first identified in 1966, this has been a diagnosis associated with negative outcomes. The initial tragedy of the condition is undeniable; Rett most often occurs in previously healthy little girls, just after they have learned to walk and say a few words, and begins to drag their development backwards.

Most of these children completely lose the ability to speak. Most retain little, if any, use of their hands and are left instead incessantly wringing them. Over time, roughly half of the girls who are able to walk will lose their mobility as well.

“There is just so little that the majority of these girls and women are able to do for themselves.”

Sadly, this is only the beginning of the story. Rett is a condition which becomes increasingly complex with age. As girls move into their school years, symptoms cascade. Apraxia sets in, rendering the combination of impairments increasingly stifling. Layer upon layer of multiple, sometimes externally very subtle symptoms, descend and often go unrecognised, leading the people around the child to believe that her understanding is extremely limited.

Aside from the disabilities inherent in a Rett diagnosis, there are also a number of medical implications. The majority of these children will develop seizures. Many are plagued by autonomic disturbances which throw their physiology into disarray. Breathing dysfunctions, orthopaedic and severe digestive problems are common. Low stamina, sleep disturbances, high-levels of anxiety, spatial disturbances, reflux and constipation can often cause unexplained discomfort and distress and inhibit her ability to focus.

If you know a girl with Rett, you will know that the complexity of her condition is too elaborate to adequately describe here. If you have been caught in her gaze, you might already be familiar with that fleeting moment of undeniable coherence which calls so much into question. Why can she scratch an itch when she can’t touch a switch on demand? Why does she glance at something when you mention it but not when you ask her to?