Rett Syndrome is unusual amongst autistic spectrum disorders for two reasons
- It is far more common in girls than in boys.
- We know what causes it – a mutation of the gene MECP2 on the X-chromosome.
Because it is genetic, Rett parents have not been chasing cures like some autism parents. This has made Rett syndrome a relatively quack free zone, so far. On Thursday a team of researchers led by Dr. Bird of the University of Edinburgh announced that they had successfully activated the MECP2 gene in mice using Tamoxifen and that this had led to a reversal of Rett like symptoms and an improvement in brain function. Kev and Kassiane have both blogged their concerns that the purveyors of autism quackery will try to exploit this and I share their concerns. Fortunately Dr. Bird is not only a very good scientist. He is also an able communicator. The Rett Syndrome Research Foundation have published a video of Dr. Bird talking about this research in which he says,
Tamoxifen only works in this context because the mice have been set up to respond to it by activating the MECP2 gene. But in order to get them to do that it was necessary to alter the struture of the gene in specific ways. It would have absolutely no effect in humans.
So, why all the fuss?
Firstly, this confirms the work of Dr. Huda Zoghbi who discovered the link between MECP2 and Rett Syndrome in 1999. I find this particularly satisfying because it was Dr. Bird who discovered the MECP2 gene in 1990. More importantly it suggests that if scientists can find out how to correct the mutation in the MECP2 gene in humans it may be possible to reverse the symptoms of Rett Syndrome. Girls have two copies of the X-chromosome, one from each parent. Research suggests that most of the mutations are inherited from the father. If scientists could find a way to inactivate the chromosome carrying the mutated gene and activate the normal back up would it work like the mouse experiment? That is the hope and the expectation expressed by Dr. Bird. It is still a long way off. The paper concludes that
The experiments do not suggest an immediate therapeutic approach to RTT, but they establish the principle of reversability in a mouse model and therefore raise the possibility that neurological defects seen in this and related human disorders are not irrevocable.
Autism Acceptance and Neurodiversity
Rett parents have long practised acceptance out of necessity and got on with the job of seeking those treatments and therapies that help their children. In the broader autism movement there have been similar arguments from necessity. Time spent seeking a non-existent cure is lost time. It is much better to get on with the job of relating to your autistic child and finding ways to help them. The quest for a normal child can impede that relationship and the child may feel your disappointment and be affected by it. The most terrible thing my son ever said to me was, “I wish I could have been the little boy you never had.” There is every possibility that non-verbal, apparently low functioning autistic children may harbour similar thoughts. So autism acceptance may be therapeutic, both for children and their caregivers
There are also arguments from diversity. These have arisen from within the autistic community, based on the concept of neurodiversity. Autism is seen, not as a defective way of being, but as a different way of being. There are autistic strengths as well as weaknesses. But science continues to see autism purely in terms of deficit. We should seek to celebrate diversity instead of trying to stifle it.
Some would go further and argue that autism is neither a medical nor a scientific phenomenon. Rather it is a social construct with a history that is open to deconstruction and reinterpretation. Larry Arnold discusses these ideas on his blog, most recently in his entry Autism, it’s not what you think, it’s how you do.
The ideas of neurodiversity speak to a wider audience than just parents. Though parents like myself have been persuaded by their arguments. Autistic adults are campaigning over human rights, not just for themselves but on behalf of autistics who are subject to questionable treatment in schools and institutions. Clinicians and researchers are being encouraged to move away from a disease model of autism and to start from a position of respect for the autistic condition. Autism organizations are being asked to take account of the opinions of autistic people and to include autistic people in their governing bodies. The National Autistic Society has made great strides in this respect. The page on their website entitled “Is there a cure?” begins with this quote from Joshua Muggleton, an autisic teen.
“We are not born to suffer. We are born to thrive. If you live in a dry area and your garden receives little water, you plant plants which like dry soil. But when you are given a plant that likes wet soil, you don’t kill it, you water it, you spend one of your 1440 minutes each day watering that plant. Because you know, that given the right care, that little bit of effort can produce spectacular blooms. And so it should be with children like us.”
The page ends like this.
Although this page has been written primarily for the parents of newly-diagnosed children, it may be helpful to note the viewpoints of some adults with autistic spectrum disorders. There is a growing movement amongst autism activists who don’t think in terms of ‘curing’ a ‘disorder’ but instead of celebrating difference. Please take time to read their viewpoints below.
It then links to stories about the Autistic Liberation Front, to Autistics.org, Neurodiversity.com and Don’t Mourn For Us. Whenever I get impatient with how slowly the NAS is moving I return to that page before turning to Michelle Dawson’s blog that documents the uphill battle with Canadian autism advocates who see normalization as the only option for all autistics whether they want it or not.
Is our position under threat?
Now that there is a real possibility of a cure for Rett Syndrome some time in the future, will it undermine the movement for autism acceptance and encourage those whose aim is normalization? Some will certainly see it that way. But in the short to medium term I predict that it will increase the tension between organizations like Autism Speaks that are funding research into genetic causes for autism and those like NAA and Safe Minds who think they already know the cause and the cure and are only interested in research that confirms their prejudices.
Neurodiversity has nothing to fear from sound research like Dr Bird’s. It helps to clarify our understanding of autism and adds to our understanding of neurology. Rett itself is a spectrum condition. Kerr et al have identified both strengths and weaknesses in Rett Syndrome and discuss the complexity of the symptom mix. Rett Syndrome has always seemed a very atypical pervasive developmental disorder. Whereas most PDDs are diagnosed on the basis of behaviour, Rett has distinct physical symptoms. These can be very distressing and potentially life threatening. I see no contradiction between wanting to relieve those symptoms and valuing diversity.
Part of the problem is that a lot of our thinking about neurodiversity has been shaped by our opposition to those who have sought to demonize autism and to eradicate it by any means necessary. Autism Diva has compared their position with the more positive attitude of Rett parents prior to Dr Bird’s research. And now there is hope for a possible cure they are not crying out to Cure Rett’s Now! In a video of parental responses one father expressed a hope that he might hear his daughter speak before he died, even if he had to wait until he was eighty.
Dr. Bird’s research raises important questions about getting the balance right when discussing treatments and cures in the context of respect for neurodiversity. It is a challenge, not a threat, and one that I welcome.