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?
Start by forgetting everything you think you already know and you might be a little more prepared to teach her. Inconsistency is your new norm. Don’t hold her to impossible standards, insisting that she repeat communication attempts, that she validate them one more time to reach whatever quota of efficacy you have established. Believe her the first time.
Even though she is unable to execute planned movements, and commands to do so cause her even greater difficulty with a task, we are so often unable to hold on to the concept that action required from her must be spontaneously elicited, motivated by something deeper than our commands alone.
Sadly, our need to be sure (for ourselves) that we see intent in her communication so often diminishes her ability to access some of the technology and resources that could help her demonstrate a little more understanding and give her some badly needed autonomy. At the moment, there is just so little that the majority of these girls and women are able to do for themselves. Having real choices and real chances to communicate are possibly the best opportunities available to them at this time. Eye-gaze technology is of particular relevance. Most girls and women with Rett have good eye-pointing skills, yet the resources and expertise to fully explore and cultivate these abilities is not accessible for most families in the UK.
Undeniably, the day to day, moment to moment physical and physiological impact of Rett can demand an extraordinary amount of care, maintenance and adjustment. The time consuming and laborious nature of maintaining her physical health and mobility can easily overtake all other educational considerations. Indeed, it would be easier not to expect her to learn anything, and easier, perhaps, if she didn’t have that capacity.
And does she? So often, it is assumed that she does not. So often, despite advances in health care management, therapies and technology which are enabling girls with Rett to live longer, healthier and more meaningful lives, the stigma of a Rett diagnosis remains. Educational and medical services are often, at best, focused on maintaining the remaining skills and abilities left after the initial regression. At worst, they are infused with diagnosis specific apathy and low expectations which so often begin with the disclaimer: “Well, she does have Rett Syndrome, so…”
“These dramatic and unexpected findings shook the foundations of the scientific community around the world”
There is, however, one recent development in the study of Rett syndrome which brings definite cause for hope. In 2007, scientists in the laboratory of Professor Adrian Bird at the University of Edinburgh published a landmark paper in the journal Science which demonstrated reversibility of Rett Syndrome in mouse models of the disease. Rett Syndrome is caused by a fault in a gene called MECP2, which makes a protein necessary for normal neuronal functioning. The results categorically showed that once these protein levels are adequately restored, the symptoms of Rett Syndrome go away. Most surprisingly, these were mouse models of late stage disease. Only days from death, these animals recovered normal function and became indistinguishable from healthy mice in a matter of weeks.
It is no wonder that these dramatic and unexpected findings shook the foundations of the scientific community around the world. It has long been assumed that the damage caused by the faulty gene in Rett syndrome is permanent. These results suggest otherwise and, in so doing, set a whole new context for Rett, not only in terms of the potential for future treatment, but also in terms of our understanding of the experience and potential of girls and women living with Rett syndrome today. This work calls into question all the assumptions that have been made over the years about what is and what is not possible for them.
However, the translation of these research findings into treatment is infinitely more complex than meets the eye. The mouse models used to demonstrate that reversal is a hypothetical possibility were genetically engineered so that researchers could, in layman’s terms, switch the protein back on at will. As our children do not have such a switch, researchers are working to find other ways to replicate these dramatic results in girls and women.
Every conceivable avenue is being explored, but how long it will take is the million dollar question. One thing is certain, though: where once Rett was a write-off, there is now more impetus than ever to prepare these children for a future where the likelihood is that they will have access to treatment and technology which will enable them to gain skills and abilities instead of striving and struggling every day to hold on to those they have left.
The trajectories of research and technology are set. Rett is on a collision course with possibility. The impact, when it comes, could improve so many lives so significantly that, probably for the first time ever with this disease, there is just no point in being anything other than optimistic.
Further information
Rachael Bloom is Co-founder & Chair of Rett Syndrome Research Trust UK and the mother of a fifteen-year-old daughter with Rett syndrome:
www.reverserett.org.uk
