Fragile X Syndrome... Anyone familiar?

[DznyLvr2005]

I carry a mutated gene for Fragile X Syndrome. This means that I don't have Fragile X, but there's a chance my kids and their kids will.
I found all this out because I had 2 miscarriages last year and I had some genetic testing done. The good news is that the fragile X gene didn't cause my miscarriages. The bad news is NOW I KNOW I CARRY IT! I wish I didn't know.
But my "repeat #" is 57. It's just out of the stable zone. This means It's unstable and will definatly carry on to my kids in gene form if they inherit my bad X. (Girls have 2 X's, so there's a 50/50 chance I will pass down the gene) If I have a boy, then that's a problem. Boys only get one X, so If I pass the bad one then the boy may have problems.
I don't know what to do. If I get preg. again, should I have an amnio to test to see if the child is carrying it? Then if it does, I have to think about his/her future.
But apparently it's a common thing, this Fragile X and I'm wondering if anyone's heard of it, or know anyone who has it and how they are with normal everyday life.
I'll just have to pray that my future kids will inherit my good X gene.
Thanks for listening!

 

[mckryan]

I work at a therapeutic riding center, and we have a couple of kids with fragile X. What I see in them is usually autistic tendencies. One is profoundly autistic and will not be able to live on his own. Great kid - fantastic kid - but very low functioning, mentally. It's a tough spot to be in, knowing that you could pass it on. I wish you the best of luck!

 

[mickeyboat]

That is a tough one. I don't envy you one little bit. Sometimes it is better just not knowing, huh?

I did not realize how common it is for someone to be a carrier.

Are you still trying now? Would you be open to some gender selection techniques to increase the chances you have a girl?

I am not sure what is the right thing to do. Lots and lots of luck to you!

Denae

 

[DznyLvr2005]

I work at a therapeutic riding center, and we have a couple of kids with fragile X. What I see in them is usually autistic tendencies. One is profoundly autistic and will not be able to live on his own. Great kid - fantastic kid - but very low functioning, mentally. It's a tough spot to be in, knowing that you could pass it on. I wish you the best of luck!

Can I ask... Are they boys? I hear it's worse for boys because they only have that one X.
My genetecist said that I have almost a 0% chance of having a kid with fragile X because of my low repeat #. But I'm mostly worried that if I pass down the gene (not the fragile X) their kids will have a problem.

 

[Disney4Drew]

I work at a therapeutic riding center, and we have a couple of kids with fragile X. What I see in them is usually autistic tendencies. One is profoundly autistic and will not be able to live on his own. Great kid - fantastic kid - but very low functioning, mentally. It's a tough spot to be in, knowing that you could pass it on. I wish you the best of luck!

I know a boy who has it. And yes, it seems like it's more prevalent in boys. His older brother has Fragile X as well. The poster I quoted is right on with the autistic tendencies. There can also be a host of other problems associated with it such as cognitive, motor and speech delays.

It seems that females with the disorder have milder characteristics than males as they have two X chromosomes. The reason males are affected more severely is because they only have one X. I encourage you to check out the National Fragile X Foundation for more information or talk to a genetic counselor.

 

[mckryan]

Can I ask... Are they boys? I hear it's worse for boys because they only have that one X.
My genetecist said that I have almost a 0% chance of having a kid with fragile X because of my low repeat #. But I'm mostly worried that if I pass down the gene (not the fragile X) their kids will have a problem.

The one I am thinking of right off hand is a boy, yes. I will have to look through my records tomorrow to see if we have any girls. I vaguely remember a girl with it, so I'll have to look at the name and then remember the signs that I see. I honestly had never heard of it before I started working there.

 

[WDWAurora]

I'm sorry. I can't imagine what a tough spot you must be in right now. I can't tell you anything that hasn't already been said, but I really feel for you because there are a lot of tough decisions for you in general with this, not to mention the not knowing, etc. that comes along with knowing you are a carrier.

 

[KirstenB]

Our youngest has autism spectrum disorder, and one of the recommendations from Children's Hospital was that she be tested for Fragile X. In talking with other parents of autistic children, they have all received the same recommendation, so maybe it's standard operating procedure.

I'm not having any more children, or I would go be tested too. We are planning on having her tested when she's a teenager, but I saw no upside in doing it now when she's a toddler. Based on her test results, we may have them test our older dd too.

My heart goes out to you.

 

[Jpgirl]

My ds was tested for Fragile X-he didn't have the gene-but I became very familiar with it. You have a great burden to carry. In looking for an answer to my ds's learning disabilities and behavorial problems some experts suggested the genetic test because ds fit the markers. Like I said he didn't have the gene and he was eventually diagnosed with Bipolar 1 along with his learning disabilities. What I can tell you and he would too-that there are many times that his life and our family's life is a living hell. I can't tell you how many times he has asked me, in the last 10 years, why we had him? He doesn't say that because he doubts our love for him but it's a statement of how he is sooo tortured in his life-he struggles every single day. I will say that things are better with medication,but he does still struggle. The best advice I can give you is get involved with a local support group for Fragile X and if there is none try one for Autism. You need to find out what you'll be in for should you have a baby and it has Fragile X. My ds's problems have almost destroyed our family. We know it's through no fault of his but you need to do some research about divorce rates among families with special needs kids-I know more single moms with special needs kids than I do intact families. You also need to think about the financial comittment-yes money's not everything but can you provide for this child's needs? A Fragile X child would probably qualify for state aid, I know my ds didn't qualify and we just couldn't afford 20-40,000.00 a year for the assisted living/education center that we wanted to send him to. He 20 and I would estimate we've spent 80,000.00 in medical bills. It's really cut into savings and we have very little to retire on. We are all working very hard here so that he can be independent-there's a good hope for that IF he continues his medication. I wouldn't trade him for anything, but sometimes I do feel guilty for wanting a child so badly and having to watch him suffer so much. Good luck and God Bless you.

 

[KirstenB]

Jpgirl You're very brave to share your family's experience so candidly. It's hard to describe what it's like to have a special needs child, and you've really nailed the challenges that face the entire family.

 

[DznyLvr2005]

Thanks for all the information...
As I've said before, the genetecist said that in all the studies that have ever been done on fragile X, there's practically a 0% chance that I will have a baby with the actual syndrome fragile X because my number is so low. I have a repeat of 57. NOrmal repeats are 30. "Gray Zone" is 45-55 which is stable, so I'm literally 2 numbers out of being stable. She is not too concerned about me, but she wanted to make me aware that if I have a kid and I give them my fragile X gene and it repeats to say 100, then MY child has a definate chance of having a fragile X baby. I mean, I could have a kid next year and it could get my good X and then, that's the end of my bad fragile X "curse" because then when she has kids she has no chance of passing it on. It's all very complicated, and I've done alot of research on it.
There are only 3 cases on record in all of fragile x history where 3 seperate people had a number of 59 and their kids had the syndrome. See, that's why she's not concerned. Noone under 59 repeats EVER had a child with fragile X syndrome.
She wants to do a study on my family and test my sister and my parents to see where this gene came from. No one in my family, and I mean aunts uncles cousins, etc.. ever ever had a problem with this. It's so wierd!

 

[kellyg403]

I have a good friend whose son was diagnosed with Fragile X syndrome around 3. She was tested as well and was a carrier. She has 4 other boys, and they are all being tested but appear to have no problems at this point. The ds diagnosed was her youngest. Her sister is going to get tested also as well as her 3 children, though they show no signs. I think they are going into this with an idea of what the future may hold since she has 2 daughters.

He is a great kid, has very little verbal skills and obvious facial signs of the syndrome. His parents are having a hard time because they are pretty sure that he may not ever be on his own. They are doing the best they can to get him to a point where maybe he can try someday. They too have alot of financial difficulties. But, there is much much love there and whatever comes in the end I know they will all be o.k.

Kelly

 

[lovetoscrap]

There is a chance that my Mentally Challenged half brother could have it. We don't know because my parents never had him tested for it. But he fits a lot of the profile. My half sister did a research project on this in college when she was getting her Pharmacy degree and passed the information on to me.

Based on it we decided to have genitic testing, specifically for Fragile X, but some other things also before we began our family. Fortunately it was not found in me. My sister is not the "family" type so she is not planning to have children and has not been tested.

I guess that doesn't add much but I know that I sure wish my mom knew if that is what my brother has just so we would know. I do have 2 healthy girls and am not having any more. But my mother was very paraniod about their development in the beginning since she had no idea if something else could have been passed on.

to you. You have some tough decisions ahead of you. We weren't sure what we would do if our tests had indicated it.

 

[chris1gill]

Believe me, I didn't know what I carried, and I've given the gene to both my kids, my daughter can have a child with it (it's only passed on by the mother), and if she does have a baby with an active case, the baby would most likely not live past age 2.... It's a horrible thing to know as their mother that I passed this down unknowingly. Right now they are healthy, as adults they may not be, but it would be manageable until it wasn't. I'm so extraordinarily lucky that I had TWO healthy children (the odds were so stacked against us and we didn't even know)....

I pray every day they will find the specific pattern that would identify the gene pattern. I would encourage my daughter to have invitro done with cells not found to carry the disease, should they be able to isolate the pattern in our family. Otherwise, my daughter faces an extraordinarily difficult choice, and the odds aren't good in her favor....

My recommendation to you would be that if you have a child and their numbers are higher than yours, then have your child follow this advice...

 

[tngramma]

I have a very good friend with twin DSs who are now 15. One of the twins at age 2 or 3 was suspected of having Fragile X Syndrome but later it was determined he was autistic. The uncertainties this family went through for many years was very hard on them. Sometime the technology we have today is a not an asset when it comes to something like this. We will be praying for you.

 

[ZPT1022]

When I was going through infertility testing and treatments I was made to see a genetic counselor. I had a false positive on one of the markers, forget which now, but there are ways to work around it. They talked to us a lot about pre-implantation genetic determination. Basically it is like having an invitro but they test the embryos to make sure that they don't have whatever it is that you are trying to not pass on. That might be something to look into. For what it's worth, I went to UCONN Health Center in Farmington, CT so that may not be too far for you. I think it's a hard thing to go through but better than the alternative. I have a friend whose baby was born with a genetic condition- both she and the father are carriers. Their OBGYN suggested an amnio if they get pregnant again and she can choose to go through losing another child shortly after birth,or having an abortion. I told her about the PIGD, hopefully that is an option for her because as hard as it is I think it's still easier than either making the choice to abort or losing another baby.

I wish you all the best

 

[iggbees]

i just looked up what i thought might happen in some journal articles and i was correct. in a premutation, like the one you have (between 55 and 200 repeats of the cgg codon), there will be some mRNA made and some not made. the mRNA that is made will translate to protein, which will translate the neuronal RNAs allowing for healthy brain function. a lack of neuronal RNA translation is what causes the fragile x symptoms. the article that i'm including says that the premutations don't show autism in early life, but can cause a problem in later life in males associated with the fragile x premutations, because they get inclusions from binding of multiple mRNAs that are made.

http://www.nature.com/ncpneuro/journal/v3/n2/full/ncpneuro0373.html

i hope this helps a little. it's always hard to decide things based around our genetic backgrounds, because genetics is not always so cut and dry, you could get a good chromosome and you could get a bad one.