Should I test for fragile X?

This is a question that often appears in my inbox, through different forums or alerts, it happened once again today, and I think it is important enough to address here.  As always, please feel free to share. 

My honest opinion is “YES”, here are my reasons why:

1. Fragile X is a genetic condition that may not just impact your child, carriers may have FXTAS (typically occurs after the age of 50) or females may have FXPOI (often results in early menopause which could have a huge impact on family planning).
2. Fragile X may not just impact your immediate family, it is genetic, it could impact your parents, your siblings, your children and/or your children’s children, your cousins, your nieces and your nephews, etc.
3. Having the correct diagnosis will ensure you follow the advances in treatment and research for targeted treatments specifically to treat core deficits of fragile X, treatments are quickly evolving.
4. Having the correct diagnosis will create awareness for other medical conditions that may arise you would be more likely to be familiar with “Health Supervision for Children With Fragile X Syndrome”, http://pediatrics.aappublications.org/content/127/5/994.longand  “Advances of the Treatment of Fragile X Syndrome” - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2888470/.
5. Having the correct diagnosis would enable you to participate in research studies clinical drug trials and/or non-clinical drug trials (could be related to speech, anxiety, social skills, etc.)
6. Having the correct diagnosis would enable you to seek out the experts, bi-yearly there is an International Conference where families can network with other parents and experts in the field.  2014 is a conference year and it will be in CA, more details at fragileX.org.
7. Knowledge is power, understanding fragile X, knowing it is fragile X will enable you to better determine which therapies might provide the most benefit. Knowing it is fragile X will help you understand your child better and possibly help you build his/her strengths and address his/her weaknesses.  The worst thing I’ve seen happen with my son is when in the educational environment they tried to plug him into their “autism” curriculum, which did not meet his unique needs, which only created more problems.
8. I don’t care if a doctor is or is not a neurologist, fragile X cannot be determined by just a look see. I want to choke every doctor who has ever told a parent "He/She doesn't have fragile X they don't look like they have fragile X"  or "They don't act like they have fragile X". Often doctors have little experience with genetics or as time passes what they thought they knew is now obsolete. Fragile X is a spectrum disorder a child could be not affected at all, mildly affected or severely affected.  Only the FMR1 DNA test (fragile X DNA test) can provide you with an accurate diagnosis (a chromosome or microarray analysis should not be used, it produces too many false negatives, and is only accurate at diagnosing fragile X when it is due to the deletion of the gene, which occurs in about 1% of the cases). DNA testing is evolving as well, it's very important that parents understand that a chromosome or microarray analysis should not be done "alone" to test for fragile X.  If in your results there is no mention of CGG repeats on one allele for males and two alleles for females, odds are HIGH they didn't run the right test. 
9. Local and virtual support networks are just a few finger taps away.
10. Test to rule it in or rule it out, why have something like this lurking in the background. If you rule it in move forward with connecting with others and building an expert support network.  If you rule it out, it’s one less worry that you really don’t need to worry about.

Where to learn more about Fragile X, there are numerous resources at this site - http://fxam.org/Resources.html

In the end, one very important question one must ask is what are the benefits of knowing, weighing  that against what are the risks of not knowing.

The one reason I hope many would test would be to think of their future generations, think of your daughters, your sons, your nieces, your nephews.  Far too often I’ve seen on a forum a young lady in desperation looking for information because she's pregnant and she just learned she was possibly a fragile X carrier. It could be that her family didn’t know the association between fragile X and other conditions like autism. It could be that her family suffered from Ostrich Syndrome, just buried their heads in the sand not wanting to have a diagnosis OR share a diagnosis of fragile X.  

Way to go to prepare this young lady, what a way to turn a pregnancy into a train wreck.  Think of the big picture, take a walk in this young lady's shoes, how would you feel?  It doesn’t have to be this way.  Having a genetic condition is not the end of the world, having a genetic condition is at times like being in a car accident in which you were hit from behind – There was nothing you could do to change it, what is important is how you move forward.

Fragile X Syndrome - Data and Statistics "The exact number of people who have a fragile X premutation is unknown. A recent study estimated that 1 in 151 females and 1 in 468 makes in the United States may be affected by a fragile X premutation."  http://www.cdc.gov/ncbddd/fxs/data.html