Testing for Fragile X Syndrome

Jennifer - posted on 09/26/2011

Thank you all we got the test results back today he DOES not have fragile x... however they did find a chromosomal abnormality of 2 number 8 deletions and 3 number 10 chromosomes

Alice - posted on 09/14/2011

@Sally--that is so interesting. I just took the negative result at face value. We have Asperger Syndrome on both sides of the family, so it didn't seem that surprising that my sons have autism.

Sally - posted on 09/14/2011

Happy to see that Holly responded to this post, like Holly I am a carrier and I have children with fragile X. One thing I'd like to add, for those of you who think your children have been tested, make SURE they ran the correct test. A chromosome or microarray analysis is not accurate in diagnosing fragile X, they provide too many false negatives. If the ran the correct test FMR1 DNA test (aka Southern Blot with PCR analysis) they should have provided you with a CGG repeat number. If you don't have CGG repeat numbers they might have run the wrong test. I agree with Holly, rule it in or rule it out, knowledge is power and with the numerous advances being made on the fragile X research front having the right diagnosis is so very important .

Jennifer - posted on 09/12/2011

Thank you that was very helpful and I cannot wait to get the results back I want to know yes or know so like u said we can move on its been a year of tests and like the genetescist said this is the last straw the last test Im going to call tommorrow and see if results are in ... they did several tests on diffrent things so maybe this one particular test is back and maybe the others arnt they told us to expect 6 weeks for test results maybe that was so all the tests would be back and they could tell us yes or no all at one time (not really for sure) I have done several online studies and I can see my son fitting the criteria for both fragile x and autism and myself as well as some of the other family members etc... little signs that are adding up... like i said its been a year its just we want answers and statistics so we can help him out as much as possible he is our world

Holly - posted on 09/12/2011

Hi Jennifer - I'm going to try to hopefully cover everything in one reply :-)
I have 2 children with Fragile X Syndrome. A son who is 12 and a daughter who is 8.
I am the founder of the Central IL Fragile X Resource Group, I am a keynote speaker at conferences throughout the US and I am the LINKS project assistant for the National Fragile X Foundation. (LINKS are our parent support groups).
I'm not sure where you live, here in the US the average wait time for the result of a blood test is 3 weeks if done just for the purpose of a diagnosis. Testing that is part of any type of research typically takes longer.
I am a carrier of the FX gene and we can trace it back in our family for 6 generations now. We also had no idea that this gene mutation was in our family until my son was diagnosed 8 years ago - right before his 4th birthday.
I have 2 sisters who are also carriers and we got the gene from our father (who got it from his mom, she from her dad, he from his mom).
Fragile X is a spectrum disorder, you can have mild learning difficulties and basically no signs of a disability or you can be profoundly impaired.
Boys are typically more affected than girls - which is why they are more likely to be diagnosed. However, girls can be just as profoundly affected.
My son is moderately affected, my daughter is very midly affected.
For both the carriers and those with the full mutation (or mosiac pattern) you can have one or two charachteristics or you can have several.
Because Fragile X and autism look so similiar - FX is commonly misdiagnosed as autism.
So - why test? A few reasons - 1) As a carrier of the gene (male or female) you are at risk of passing the gene to your children. As a male carrier - you automatically pass the gene to all of your daughters (but ONLY in the pre-mutation/carrier status) and none of your sons (because it is on the X chromosome and girls have 2 X's and a boy has an XY). As a female carrier (or full muation) of the gene - you have a 50/50 chance of passing the gene to each of your children. (One X is not more dominate than the other - it is literally a 50/50 chance, you will either pass the X with the mutation or the X without) - if you pass the X with the mutation the CGG repeat sequence will always expand - which is where the full mutation is seen. Ex - I am a carrier with 91 repeats - so when I passed the gene to my children the repeat sequence expanded to over 200 which means they have the full mutation or they "have Fragile X".
2) as a female carrier of the gene you are at risk for FXPOI (fragile x associated primary ovarian insufficency) - this can mean early menopause (as early as late teens but typically in your 30's), fertility difficulties, and other associated problems.
3) Both male and female carriers of the gene are at risk for developing FXTAS (fragile X associated tremor ataxia syndrome) This disorder, which is more common in males, affects carriers over age 50 and looks like a combination of Parkinson's and Alzheimers. Symptoms include tremor, loss of balance, memory problems and dementia. (www.fxtas.org). 4) A correct diagnosis is an answer. This is a DNA test, there is no arguing or guessing about the results - either yes you have it or no you don't. In addition to the reasons above having a correct diagnosis give you direction in how to best help your child.
Children with FX are different than children with autism. Despite the similarities - there are differences as well, especially in how you educate them.
Children with FX are very social and learn best from peer modeling. They do extremely well in a full inclusion/mainstreamed learning enviornment. Although some educational and behavioral strategies are the same - some are very different.
It has been recommended that everyone with an autism diagnosis be tested for Fragile X. Unfortunately this is not being done and many children are still mis-diagnosed.
You can have a duel diagnosis of FX and Autism. When you do - you have autism because of the FX so it is important that you understand and work with the FX first and primarily and the autism 2nd.
It is very important to know.
I will say this - for 99% of the families that I know who have fragile x (and I know hundreds) - they will all tell you that it is a relief to have this diagnosis because it stops the guessing. It's your DNA. It's not a checklist of differing opinions depending on the tester, it's black and white. It's a clear answer to help you move forward. We are a very supportive and tight knit community that spans the globe.
Getting this diagnosis - for me personally- was the best thing that happened for my family, and my children. It is nice to have that clear understanding of how and why and what to do next. Most of us have very close ties to the autism community because, we are so similiar and we are all in this together.
FX is not rare. It is the leading cause of inherited mental impairment and the leading known genetic cause of autism.
1 in every 129 women - like myself - are carriers of this gene. Often times, like in my case, completely unknowingly. 1 in every 350 males are carriers of this gene. There are over 1 million Americans living with a Fragile X related Disorder (Fragile X, FXPOI, FXTAS).

For the more information go to the National Fragile X Foundation's website at www.fragilex.org

I feel like I jumped around a lot - I'm sorry! There is so much to tell. Most of all there is HOPE! We have some very wonderful drug trials going on right now that are showing great promise (my son is proof of how life changing these medications can be!). The research going on for FX is amazing.
If you are in the US there are many ways you can get involved and find other parents near you!

I hope this has helped! If you have any questions, please feel free to email me at centralilfx@yahoo.com

Good Luck!
Holly

Jennifer - posted on 09/07/2011

they didnt explain just said more interventions early on is better we are doing occupational therapy privatly once a week, occupational therapy in school once a week and 2 speech therapies weekly

Irene - posted on 09/07/2011

What is the benefit of being tested for Fragile X syndrome? Is there a different therapy or treatment that can be used to help an autistic child who also has
Fragile X syndrome?

Alice - posted on 09/07/2011

The Fragile X Society website says between 2 and 5 percent. I think thirty percent is too high, but they are finding genetic markers for more and more types of autism. Our autism clinic tests every kid assessed for autism for Fragile X.

Jennifer - posted on 09/07/2011

Yes we were shocked to hear the 30 % rate as well but she went on to say that every child who has autism needs to be tested for fragile x because more and more kids with autism are showing up with fragile x... alot of my sons sensory issues run parallel to the fragile x as well its all confusing because so many signs and symptoms run parallel to so many diffrent diagnosis...she went on to say that many many people are a carrier of fragile x they may only have one symptom or more or all and never even realize they are a carrier? its all new to us cause we never even knew it existed up until a few weeks ago.. its odd in our case both my husbands and my family there is no record of anyone having any issues that our son has so its all a mystery to us but we are learning daily

Alice - posted on 09/06/2011

I had never heard the statistic thirty percent! My twins (with moderate autism) tested negative for it. I do know of one family who has a son with both diagnoses, but he has fairly severe autism. Good luck!

Suzanne - posted on 09/06/2011

Hope this is a little ray of hope- there is a family history of early menopause in our family too; and no fragile X. Good luck!

Jennifer - posted on 09/06/2011

thank you guys he had other tests done to one was over 2000 dollars and had to be pre approved through insurance before hand it has been on the market for four years and tests like 300 diffrent things so i guess thats why it is taking so long? she told us that they know are telling us that 30 % of autism kids seem to share the fragile x syndrome... maybe a link to some much needed answers?... for future testing..i read online that some signs in women are early menopause ovarian problems which would fit the criteria in some women in my family along with me... the genetescist said that some people some to pocess all of the symptoms some only a few, guess we just weight now... thank you for all your responses it means alot to know im not in this alone... i know all the testing in the world does not change who my son is he is who he is and i am so thankful for that... i hate that he has to go through so much but it could be much worse so im thankful we are where we are and taking it one day at a time... it wont change who he is just give us some much needed answers on how to help him with daily struggles

Suzanne - posted on 09/06/2011

We had testing done several years ago, and luckily ours came back negative. I am surprised that it is taking so long. They checked my blood and it was done in about a week or so. My blood was tested because the Mother is the carrier for this particular syndrome. I do know that there is a higher rate among autism, but I thought it wasn't typically seen in high functioning autism-though I could be wrong.

Debbie - posted on 09/06/2011

we recently went had this testing done also and currently awaiting results. My son is 9.

Katherine - posted on 09/06/2011

Hi Jennifer,

I just wanted to respond since no one else has. I have not dealt with this, but I'm sure moms have. As soon as I respond I'm certain other moms will too.