Re: Re: Genetic causes of autism [1 Attachment]

[Guest guest]

It's very true. Many of the neonate disorders/IEM's are much less common, yet we mandate testing for 28 of them - for the very reason we should mandate this [FRAX and CMA] testing. If the genetic anomalies (those that manifest as spectrum disorders and others) are identified at birth, there ARE very specific medical approaches you take to generalized care and definite medical/biomedical/dietary/therapeutic approaches you can take from day 1 to mitigate further damage.

Had we known from day 1, our children would never have been exposed to Zithromax (prescribed multiple times through their early years for a variety of infections), never had anti-virals for flu (God, the regressions), would have had a much different/medically tailored vaccination schedule (yes, we'd still vax as the alternative is deadly for them), would have been on high dosage vitamin/mineral supplements immediately (they don't metabolize them as their IEM makes this difficult), would have had a much earlier evaluation for apnea (but oh, kids with autism just don't sleep well - give them melatonin) and cardiac issues (kids with the 15q duplication have been known to just die for no reason in the middle of the night), and would have been carefully monitored for seizure and treated for it earlier (my youngest has suffered likely since birth with nocturnal seizures, a part of the genetic disorder/autism

mix, and everyone wrote them off as night frights and anxiety - now we have seizure related regression). And fun things like chelation can potentially lead to death (not knocking it for folks who actually have a heavy metal issue and no other issue, my DH had to go through this after Tuna poisoning and at low dosages, EDTA almost killed him--this was prior to knowing about the 15q issue of course).

We know the environment sux. Its a long term deal. Work with it. Change what you can. That makes sense. But realistically, up to 30% of ASD individuals have a genetic issue (which includes IEMs) of some kind. If you don't, move on and see if you can actually identify what's going on. If you do have a genetic issue, you CAN work on treating the underlying disorders. If someone's told you otherwise, move on and find someone who actually knows something.

Byrne

1 in 110 in the general US population have a spectrum diagnosis. 1 in 271 in the US Amish population (IMFAR 03/2010) have a spectrum diagnosis. There's more to this issue than vaccines. Read our kids'stories online at Caring Bridge - http://www.caringbridge.org/visit/prestonbyrne and http://www.caringbridge.org/visit/toribyrne

To: Texas-Autism-Advocacy Sent: Sat, November 13, 2010 9:50:45 PMSubject: Re: Re: Genetic causes of autism [1 Attachment]

, you've asked a really great question about how to engage the entire community of stakeholders.

In my opinion, the first thing is for families to talk to their physicians about genetic testing. The American Academy of Pediatrics made a written recommendation in March 2010 that chromosomal microarray should be considered as part of the diagnostic evaluation of patients with ASD. http://pediatrics.aappublications.org/cgi/reprint/peds.2009-1684v1. Texas seems to be very, very far behind other states in the numbers of people with autism who are getting chromosomal microarray tests. For example, Texas has about only 1/5 of the number of identified patients with Phelan-McDermid Syndrome that it SHOULD have, based on how frequently Phelan-McDermid is diagnosed in

other states. I suspect that's because insurers and Medicaid are not consistently covering chromosomal microarray in Texas. We probably need some legislation to compel insurers and Medicaid to cover chromosomal microarray.

We should also ask groups like ARI to do genetic studies. I would think that (1) identifying the genetic bases of environmental susceptibility and (2) identifying genetic conditions that are more likely to respond to biomedical interventions would easily fall within the scope of ARI's mission. ARI has a scientific grant program through which they could generate some research interest in this.

Geraldine

* Anyone had any experiences with> > > Klinefelter's?> > >> > >> > >> > > Hi I was told by a friend, who has a son with Asperger's, OCD, and Bipolar,> > > that her son was later diagnosised with Klinefelter's. We go to a> > >

geneologist next week to have testing done. She said her doctor told her in> > > severe cases it can cause Austism, Biopolar, and other disorders. Our ped.> > > was very receptive to having my 2 years old tested but I wasn't sure if> > > anyone else has dealt with this. I'm trying to get prepared for dr visit and> > > know what questions to ask. Thanks> > >> > >> > >> > > > > >> >>