There it is, it is on the internet for all to see so it must be true.
My first royal duty may be to send Katie Wright to the tower for her most recent piece on the AGE of Autism website, http://www.ageofautism.com/2014/01/katie-wright-on-autism-speaks-science-department-a-year-in-review.html
Sweetheart, I don’t care who you are or who your parents are. I don’t care if you are waging a war with Autism Speaks BUT if you’re going to talk about research and fragile X you better get your facts straight. You better learn that just because you see something in print it doesn’t mean it’s true.
I understand your passion when it comes to helping your child, it’s no different than my passion for my son (he has a diagnosis of autism and fragile X) and although I don’t have the resources available that you do, I do as much as I can to not only help my son but help others with children with or without a autism spectrum diagnosis.
From Katie’s most recent piece, “These consortiums appear to be a Two MILLION DOLLAR check to geneticists towards mystery drug development. Typically these studies research “core issues” (behavioral aspects - not total body autism) of autism. We cannot afford to go down the same avenues over and over again. We already tried this. AS spent 5 MILLION DOLLARS on the Fragile X /Seaside Therapeutics drug. The drug certainly helped those with Fragile X but not that the other 95% of people with autism. These rare chromosomal disorders are such a different animal; they do not translate to typical autism. Dr. Crawley mainly does genetic and behavioral research.
Yes, Reuters published an article on STX209, the Seaside Therapeutics drug, and deemed the trial a failure but I don’t think you did your homework sweetie.
Individuals with autism on the drug did improve and they improved in more than just the primary end point “social withdrawal” and although the trial did not continue (lack of funding) when it comes to research to treat core deficits of a condition the research community as a whole learned a lot from this study. What truly “failed” the study was the PLACEBO EFFECT, although this was crushing to many families who had been on STX209 for years (we were involved from April 2009 until July 1, 2013) since the private funding had dried up and Seaside couldn’t continue the study. As bad as it was, it is, I’ll not fault the parents for looking for, and seeing, hope in something that wasn’t there. Until one has walked in our shoes (mine or yours), grasping at any therapy or treatment that may not only improve the overall quality of our children’s lives but the family as a whole, you can’t even come close to imaging what it can be like. Hope is such a powerful thing.
I’d also like to address the other 95% you have mentioned, have they done their genetic testing? Have they screened for Angelman, Rett, Klinefelter or fragile X syndrome to name just a few? Have you had these tests performed? Did they do the DNA test for fragile X syndrome (chromosome or microarray analysis cannot be used to diagnose fragile X, produces far too many false negatives, only accurate at diagnosing fragile X when it is due to the deletion of the gene which occurs about 1% of the time)?
Did you know that it is estimated that at least 80% of individuals with fragile X are mis-diagnosed or not diagnosed?
In June 2012, the first US Based population study revealed what many of us in the fragile X community already suspect, the prevalence of fragile X is much higher than what previous, smaller studies, indicated. “Using genetic samples from 6,747 WLS participants, the team led by Seltzer, an expert on developmental disability and family life, found that 1 in 151 females and 1 in 468 males carry the fragile X premutation while 1 in 35 females and 1 of every 42 males fall into the gray zone.” Full details at: http://www.news.wisc.edu/20785
If one thinks we have an epidemic now just think of how these numbers may evolve 25 to 50 years from now. Research on genetic disorders is critical.
My second royal duty might be to punish the numerous medical and educational professionals who remain ignorant and are living in the dark ages when it comes to fragile X. Their lack of basic knowledge is unacceptable as noted in “Fragile Facts”, http://sfari.org/news-and-opinion/blog/2013/fragile-facts, it is frightening knowing that only 75% in the study cited in this piece admitted they never or only occasionally try to pinpoint the origin of a child's autism. Come on folks, the gene was discovered in 1991, about 23 years ago, it’s time that professionals become educated, there is NO excuse for their ignorance.
Enough is enough, something needs to change! Knowing if there is a genetic reason behind a child’s diagnosis is critical in planning future therapies and interventions (this applies not only to fragile X but also to the other syndromes such as Angelman or Rett). Knowledge is power. And for those with fragile X it may also lead to accurate diagnoses for FXPOI and FXTAS (carrier conditions).
My last royal duty might just be to put an end to all this “tunnel vision” business Down Syndrome deserves as mush funding as autism, Angelman Syndrome deserves just as much funding as autism, Rett Syndrome deserves just as much funding as autism and yes, fragile X also deserves just as much funding. Our children, no matter the affliction often have the same needs and/or challenges. Create one organization, create one team that will collaborate to focus on simply helping our children with developmental disabilities as a whole, no matter what the cause may be, be it environmental or genetic.
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