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Real members of MyAutismTeam have posted questions and answers that support our community guidelines, and should not be taken as medical advice. Looking for the latest medically reviewed content by doctors and experts? Visit our resource section.
A MyAutismTeam Member asked a question 💭
Gallatin Gateway, MT

Our daughter was diagnosed with PDD/NOS/autistic twice but diagnosed with fxs at age 12 following a tip that was given to me by a stranger I met on the D.C. metro train! Visit www.fragilex.org and www.fraxa.org for more information and exciting research underway!

December 4, 2011
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Answer Summary

Members shared their experiences with fragile X syndrome testing for their children, with results ranging from negative tests to positive... Read more

Members shared their experiences with fragile X syndrome testing for their children, with results ranging from negative tests to positive diagnoses of fragile X as well as other genetic conditions like Klinefelter Syndrome, 22Q deletion disorder, and Marfan Syndrome. Several members emphasized the practical value of genetic testing, explaining that a fragile X diagnosis can guide more effective therapies and medications, help identify at-risk family members who may be carriers, and offer hope through promising research that may one day lead to a cure. A recurring theme was the importance of pursuing genetic testing even when autism is already diagnosed, as syndrome-specific treatments can make a meaningful difference in managing symptoms and planning for the future.

A MyAutismTeam Member

I think that every child who has an autism diagnosis should go through genetic testing. There are syndrome-specific treatments that your child may need. For instance, my son has very low testosterone levels and has been taking testosterone, which has helped with mood swings, energy level, and focus issues.

May 7, 2012
A MyAutismTeam Member

I understand. My thought is that sometimes the treatment is inappropriate, because we are treating the wrong thing.

May 8, 2012
A MyAutismTeam Member

It is a blood test typically done by a geneticist Insurance will cover it. If your daughter had it there are approaches / therapies that are better than others. Medications that work better than others AND there is a biological reason why these kids respond the way they do. Knowing that helps you help them deal with life.

The other thing is if there are others in the family that are carriers it can affect them and/or their future generations AND since it is one chromosome that is the issue ... research is making progress! They have cured it in fruit flies and are eliminating symptoms in mice! Our hope is someday there will be a cure!

The good news is that Fragile X research is also helpful to the autism community at large so both populations benefit.

January 23, 2012
A MyAutismTeam Member

Yes, it matters, because if my Son has the gene/chromosone, then he'd want to know for his future, having his own kids someday.

May 2, 2012
A MyAutismTeam Member

I just personally can't jump on every band wagon out there. ABA is tried and true and works all the way through the spectrum from the high end to the low...Just my thoughts. At the end of the day my son is still my son with autism.

May 7, 2012

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