If we could fix Autism, would we? I recently attended a conference where a geneticist presented some very exciting advances in current autism research – leading to just that possibility.
Dr. Alexander Kolevzon, from the Seaver Autism Center at Mount Sinai School of Medicine, stated that scientists have identified the gene responsible for Fragile X Syndrome (FXS) – a rare genetic variation which accounts for about 2% of autistic cases. Fragile X is tied to a single gene mutation whereas, many other Autism Spectrum Disorder (ASD) types may be more complex and based upon a combination of genes acting together. Dr. Kolevzon proceeded to say that researchers are currently able to identify the genetic causes for up to 40% of all autism cases. (Autism, defined here, includes all ASD, including Autism Disorder, Aspergers, PDD-NOS, etc. )
Within the autism research community, autism is generally accepted to be a genetic condition with environmental risk factors. This genetic predisposition to autism, coupled in some cases with one or more environmental factors (yet to be determined…perhaps maternal factors, infections or toxins) at key points in the growth of the fetus and young child, may lead to the development of autism. So, there is a long way to go before all the causes are understood, but identifying the underlying genetic components is a huge step forward.
The Fragile X gene (FMR1) is a DNA mutation which in effect, turns off the gene. “Normally protein products of FMR1 act to dampen the synthesis of proteins at synapses… Without the brake provided by FMR protein, synaptic protein synthesis is excessive and connections [within the brain] do not develop normally.” Researchers are now developing medication to restore “normal synaptic protein syntheses and improve function.”
Based on this ground-breaking research, Fragile X medication is currently undergoing trials in humans with promising results. Medication and/or genetic therapies for other types of autism will presumably follow thereafter…
How very exciting – I was thrilled to hear about the progress!!! I choked up, thinking about some of those parents who now have hope that within the foreseeable future, they might be able to ‘reach’ into their severely autistic child’s locked-in world and perhaps communicate with him or her for the first time. And how amazing it would be for the child (by then probably an adult) to finally be able to break out of his/her shell and interact with the world at long last. I can’t imagine anything more thrilling.
But then I started to think more deeply about the implications. Upon initial hearing, one might think, “Fabulous! Let’s ‘fix’ things!” However, aside from the significant moral and ethical considerations of gene therapy (which I won’t go into here…), these autistic individuals would be dramatically changed at a very core level – they may lose or change the very essence of themselves – potentially resulting in a radically different personality, skill set and perspective on the world. Would they want that? It might be great for the parents to finally have a neurotypical child, but given the choice, would the autistic person choose this for him/herself? Would that even be a good thing – for the individual? For the family? For society?
Would I want Gregory to undergo a similar therapy to correct his Aspergers? Sure, he might become more ‘normal’ in his behaviors. And yes, life would most certainly be less confusing and difficult for him, but he wouldn’t be ‘Gregory’ any more. Now, I’m sure the NT version of Gregory would still be a great kid, but I would miss my lovable, quirky, funny, amazing Aspie son. No, I decided quickly, I would NOT want Gregory to undergo gene therapy, if and when it becomes available. (Having said that, the choice would ultimately be his to make. I would respect his decision, but I would mourn the loss of ‘my’ Gregory if he opted to try it.)
So, there is no ‘right’ or easy answer and each situation would need to be evaluated on its own merits. For parents of severely autistic children – those who are non-verbal and not able to function within society to any significant degree, perhaps genetic therapy would provide significant benefits. But for individuals on the high-functioning end of the autism spectrum, this genetic ‘fix’ may not be the best choice. It is an intensely personal decision and the trade-offs, risks and rewards of gene therapy would need to be carefully weighed.
Many Aspies don’t feel that their Aspergers is a disability at all, but more of a difference – if not an outright strength! (See Wrong Planet.com) Entire forums are dedicated to accepting and appreciating the Aspie brain – for all its unique powers and perspectives – not trying to FIX it!!!
Dr. Temple Grandin, the renowned autistic author and animal scientist, believes that we, as a society actually NEED Aspies among us. These are the people who are able to look at the world ‘differently’ and come up with new solutions to problems. They are the individuals whose analytical, detail-oriented, precise talents and single-mindedness can hyper-focus on specific problems in order to research and solve complex technical or scientific issues. In fact, it has been said that most of the technology (e.g. Bit Torrent) we enjoy (or hate, depending on your perspective!) today would not exist, were it not for AS.
“Some of our world’s finest minds, inventions, art and ideas belong to people with autistic traits.” Among those fine minds that are thought to have had AS are: Albert Einstein, Vincent Van Gogh, Gregor Mendel, Thomas Jefferson, Carl Sagan, Wolfgang Amadeus Mozart, H.G. Wells, Charles Darwin and Isaac Newton – very good company indeed!
In spite of having significant challenges with social skills, physical coordination, emotional regulation and sensory integration, Gregory is a remarkable, bright and talented person. He is potentially one of those ‘great minds’ of the future. He has many strengths and ‘uniquenesses’ that I would be loath to ‘normalize’ by fixing his Aspergers. And Gregory too, is quite happy with his AS. Yes, he acknowledges that it does make certain things more difficult, but it makes some things easier too. He has accepted his condition with grace and dignity – focusing on the strengths it provides. We love Gregory the way he is – in all his quirky glory….and so does he.
 Alexander Kolevzon, MD, “Advances in the Genetics of Autism: Implications for Treatment”, 1st Annual JCC Rockland & Parent Support Network Conference: Current Autism Research: Practical Strategies for parents and Professionals – Meeting the Needs of Children and Youth on the Spectrum, (West Nyack, NY, 2009).
 “Clinical Tests Begin on Medication to Correct Fragile X Defect,” US Department of Health and Human Services, National Institutes of Health, November 2, 2009.
 Fitzgerald & O’Brien, 2007
- The promise of genetics and autism (psychologytoday.com)