Great News for Fragile X Research
Novartis has taken a step closer to creating a drug that will alleviate some of the neural problems suffered by those with the Fragile X genetic disorder. And researchers are also hopeful that the drug may be able to treat autism too.
From the NYTimes here:
An experimental drug succeeded in a small clinical trial in bringing about what the researchers called substantial improvements in the behaviors associated with retardation and autism in people with fragile X syndrome, the most common inherited cause of these mental disabilities.
The surprising results, disclosed in an interview this week by Novartis, the Swiss pharmaceutical giant that makes the drug, grew out of three decades of painstaking genetic research, leaps in the understanding of how the brain works, the advocacy of families who refused to give up, and a chance meeting between two scientists who mistakenly showed up at the same conference.
“Just three years ago, I would have said that mental retardation is a disability needing rehab, not a disorder needing medication,” said Dr. Thomas R. Insel, director of the National Institute of Mental Health, who was told of the Novartis trial results. “Any positive results from clinical trials will be amazingly hopeful.”
The gene for fragile X was discovered in 1991. Work since then has found that fragile X patients seem to experience an overload of unchecked synaptic noise — synapses being the junctions between brain neurons. The Novartis drug and others like it are intended to lower the volume of this noise so memory formation and high-level thinking can take place, allowing children to develop normally.
Believe it or not there are lots of Aspergers and Autism advocates that do not want a cure for the disease because they feel that the disease is what makes them special or extraordinary. But most families will be relieved to get their hands on a cure.
As I am sure you are well aware I am more of the ND (the anti cure crowd). When you consider some of the traits of asperger’s and autism, you will have a problem taking away the condition without seriously changing the person who has it. For example, while being obsessed can be a bad thing, it certainly does provide a lot of room for expertise and from their invention.
But then again I can see it from both sides. If you have a totally nonverbal kid, you are going to want a cure. If you have a quite intelligent 3rd grader that is having social problems and is not maturing quite right, not so much. Basically, where you stand depends on where you sit. Personally I think if its an aspie or autie that will be able to one day make the decision, it should be theres to make when they are ready, if not the parent can make it for them. I get attacked a lot from both sides for such a position… but isn’t that the defination of compromise?
From what I have seen from the community, both parents and the people with the condition, seem to be pretty evenly split. People with the condition, particularly more mild cases of it, seem to accept it. A lot of time with more moderate cases it tends to be split, and with severe cases… well its impossible to really tell most of the time. Parents are more evenly split. There are parents that see it as being vital to their kids personality… and there are those that are the total opposite; generally I have found the former are better at handling their kids condition, but their kid could just have an easier to handle condition. So complicated.
The real problem I see is that there really isn’t much commication. GRASP/ASAN are firmly anti-cure as you can get, in any situation. Autism Speaks tries to play both somewhat, and are getting a lot better at it, but they still have a long long way to go, though I must applaud their hiring of John Elder Robinson, its certainly a step in the right direction (hey thats an aspie you would probably actually like! he created the guitars for KISS). Then there are organizations DAN, which never listen to autistic voices. Its weird… but Autism Speaks could wind up being the voice of moderation… can’t imagine myself saying that even a year or two ago.
So theres more then you ever wanted to know about curbies (generally speaking Autism Speaks) versus the Mercury Militia (DAN) versus ND (GRASP/ASAN). Hope you had fun lol.
Enders,
Thanks for a very well thought-out summary of this issue. And yes, I do know you and at least you can now see both sides of the issue. You couldn’t see that 2 years ago.
In the end any drug will act just like any other anti-depressant in that it will need to accumulate in a person’s body to become effective. Stop taking it and the disorder will revert to form. Many people that do not want the cure might try it and find it benefits them. But I don’t think anyone will be forced to take it- except for children with the disorder whose parents rightfully insist.
Again, this is just the next step and we are well away from any available drug that will treat much less cure. But the strides in understanding the disorder is in my mind, the most beneficial.
FYI, I have had about the same view for a few years now, just getting better at wording it, a lot less oppositional… meh I am ODD too what do you expect :-p. Before that I couldn’t, probably because I had just been around the milder cases before that. Where you stand depends on where you sit, even with me.
I just don’t see it as being a parents choice when it comes to people who will one day be able to make the choice themselves, yes I know I probably am the only one here that would think that. Imagine it this way… what if its found that estrogen helps with kids that have agression (ODD) and hyperactivity (ADHD) issues. Can a parent then basically make their a girl to help out with that?
I see Asperger’s as defining a person far more then their sex, both for the good and for the bad. As soon as you recognize that there is good aspects of asperger’s and HFA (if not MFA and SFA) it seems like it shouldn’t be their parents right to change it… just like their sex. I mean being a girl is proven to make you better at reading and writing, be less agressive, and less hyperactive, etc. so lets make all boys more girlish. Its a very similiar idea.
And I agree that we need to understand these conditions better, but I still do worry about pre-natal tests quite a bit. We should be putting more funding in programs that can help kids with asperger’s lead more productive lifes. We put enough research into it we can probably make it just as cheap as educating anyone, at least in bigger areas (smaller areas have the problem of not enough special needs kids, but when you consider that aspies, ADHD kids, etc. need much the same stuff, it might not be that hard after all). Course thats just me.