Fragile X - any info - updated in last post.

Has anyone ever tested positive for this test?

Just hung up with my doctor's office and i did.

Message edited 12/8/2008 12:04:22 AM.

Re: Fragile X - any info?

YOU tested positive or the baby did?

Re: Fragile X - any info?

Re: Fragile X - any info?

Re: Fragile X - any info?

I can't be sure, but I think if YOU tested positive, they will just do more testing on the baby. It doesn't automatically mean he/she will test positive also.

Re: Fragile X - any info?

If I test positive as a carrier, what does that mean for me?
A man or a woman who carries a fragile X pre-mutation will generally have normal intellectual abilities and a normal appearance, but a carrier of an FMR1 repeat is at risk of having some symptoms of fragile X syndrome. For example, among pre-mutation carriers:

21% of females experience premature ovarian failure (which can lead to infertility and a lack of normal female hormones).
Some older men develop tremors and an unsteady gait. This is known as fragile X Tremor-Ataxia Syndrome. Some people develop a mild learning disability. This would be someone with normal intelligence who has problems in a certain area, such as math or reading. They may need extra help in school.
How does being a fragile X carrier affect my family?
A woman who is a fragile X pre-mutation carrier has a 50% chance of passing the gene on to her children. When the gene is passed on, the number of repeats in the gene could stay the same or could increase.

A man who is a pre-mutation carrier has a 100% chance of passing the gene on to his daughters (because they always get his X chromosome) and no chance of passing the gene on to his sons (because they always get his Y chromosome, never his X). It is rare for the number of repeats to increase significantly when passed down from the father.

If the number of repeats stays the same, the child will be a pre-mutation carrier. If the number of repeats increases to more than 200, the child will have a full mutation. A boy who inherits a full mutation will have fragile X. A girl who inherits a full mutation will have fragile X about half of the time, but her symptoms will typically be milder.

Family members of a carrier are also at risk of having fragile X syndrome or passing it on to their future children.

For men:

If your father was a pre-mutation carrier, you cannot inherit the gene from him because the father only gives his X chromosome to his daughters.
If your mother was a pre-mutation carrier, you have a 50% chance of being a pre-mutation carrier (if you are not already affected).
If your daughter had a child with fragile X syndrome, you are almost certainly a pre-mutation carrier and at risk for developing fragile X Tremor-Ataxia Syndrome, the symptoms of which are tremors and an unsteady gait.
For women:

If your father was a pre-mutation carrier, you have inherited his affected gene. It is rare for the number of repeats to increase when passed down from the father, so you will most likely be a pre-mutation carrier also.
If your mother was a pre-mutation carrier, you have a 50% chance of being a pre-mutation carrier (if you are not already affected).
If your sister was a pre-mutation carrier, you have a 50% chance of being a pre-mutation carrier.
Could I get a positive test result, but not carry the disease gene (a false positive)?
The test for fragile X is highly accurate for the full mutation. False positives for a full mutation are unlikely. If the number of repeats ranges between intermediate and pre-mutation, it may be difficult to determine whether someone is a carrier. Each case must be interpreted individually.

Could I get a negative test result, but have a change in the gene that I could pass on to my children (a false negative)?


False-negative test results can occur if:

Only one DNA testing method (polymerase chain reaction [PCR] or Southern Blot) is used. On rare occasions, a person may appear to have a normal number of repeats according to the PCR test when they actually have an abnormal gene. The Southern blot test, however, will find the abnormal gene.
The number of repeats lies in the intermediate range. A lab cannot always provide a guaranteed interpretation for results that fall in the "gray zone" between normal and pre-mutation.
Personal Questions

If I have the fragile X gene, can I have children who don't have it?
If you are a woman carrying a fragile X pre-mutation, you have a 50% chance of passing on the affected gene to each child you have. If you are a man with a pre-mutation, you will pass it on to your daughters, but not your sons. In the unlikely event that both parents carry a pre-mutation, the chances of getting a changed gene are 100% for their daughters and 50% for their sons.

While I'm pregnant, can I determine the risk my baby has of developing fragile X?
To discover whether your unborn child has inherited changes in the fragile X gene, you and your partner can get prenatal testing. Prenatal DNA testing is available if you have a family history of fragile X or of unexplained mental retardation. There are two common ways of obtaining DNA from fetal cells:


Chorionic villus sampling is performed early in the pregnancy — between 10 and 13 weeks. A physician takes a sample of chorionic villus cells from part of the placenta that contains fetal cells.
Amniocentesis is performed after 15 weeks. The physician obtains fetal cells from the amniotic fluid that surrounds the fetus.
Talk with your obstetrician or a genetic counselor about your options.

If I am a fragile X carrier, could I give birth to a girl with the disease?
There is a 100% chance a male pre-mutation carrier would pass on the gene, but his daughter would only be a carrier and not have the disease. There is a 50% chance that a female pre-mutation carrier will pass the expanded gene on to her daughter. If the number of repeats stays the same, the daughter also will be a pre-mutation carrier. If the number of repeats increases to the more than 200, then the daughter might be affected. Also, a girl with a full mutation might have symptoms of fragile X, including mental retardation, but symptoms are less severe in girls because they have an extra X chromosome to fall back on.

Source

Message edited 12/3/2008 7:49:09 PM.

Re: Fragile X - any info?

Posted by JennyPenny

I can't be sure, but I think if YOU tested positive, they will just do more testing on the baby. It doesn't automatically mean he/she will test positive also.

Re: Fragile X - any info?

I think if the mother is a carrier, it affects boys. Father is carrier, affects girls.

Re: Fragile X - any info?

Re: Fragile X - any info?

Re: Fragile X - any info?

Posted by JennyPenny

Posted by davenjess

Posted by JennyPenny

I think if the mother is a carrier, it affects boys. Father is carrier, affects girls.

interesting.... my mom's brother has an ADHD son...which is why i was tested for it in the first place...

thank you so much for the info jenny - i'm trying to stay calm - but i can't stop the tears.

Don't quote me on this stuff- i'm just going by what I'm reading. I'm not 100% sure on any of it.

Good luck- I hope everything works out.

Re: Fragile X - any info?

Try to relax and wait until you see the genetic counselor to really understand what it means. I also was a little elevated and had to see a genetic counselor, . Based on my number, which was a 52 (higher than you) and considered in the intermediate category (it goes: negative, intermediate, premutation, and full mutation), I opted out of the amnio. The GC told me that there are no documented cases where an intermediate turned into a full mutation in one generation. It takes MANY generations and may never even happen. Ultimately, for me, it meant that my DD has a 50% chance that she got my X that is at a 52. If she got it, it could have increased but would have had to go to over 200 to be Fragile X. Getting an amnio would have given no information that would have affected me. I will inform my daughter when she decides to have children to have it tested to see if she got that X and what the number is. It was really scary to be discussing it, but once I got over the fear and looked at the facts, it really wasn't that big of an issue. They would have given me an amnio if I wanted but the GC did not feel it was necessary and DH and I agreed. And, my DD is perfectly fine!!!
Don't do too much research on the internet, you'll make yourself crazy and it is complicated so let the GC explain it
Hang in there!

Re: Fragile X - any info?

Re: Fragile X - any info?

I have no answers. I just wanted to offer some hugs.

Re: Fragile X - any info?

Re: Fragile X - any info?

Posted by maybeamommy

Posted by pandaworm

i'd be interested to know why a family member having ADHD would warrant testing for this. i've never heard that being a reason before.

ITA. I've never heard of a link between ADHD and Fragile X. If someone in your family had autism, that would seem to make more sense.

Take it easy. I can imagine that this news is really hard to hear - Fragile X is serious and can manifest itself in many different ways.

From what I read, the real problem would be if the levels were 55-200.

I read this also: There is a subgroup of individuals who have what is now called an "intermediate" or "grey area" sized allele. These are alleles with 45-55 CGG repeats. These alleles are not considered to be mutations and do not appear to be associated with any clinical features, medical issues, developmental disabilities or social/emotional difficulties. These alleles are identified as such because there is some unknown chance that they are unstable and may expand to a premutation in generations to come. There is no known risk for an individual with an "intermediate" sized allele to have a child with a full mutation.

Hope that brings a little comfort. I am very sorry that you are going through this

Re: Fragile X - any info?

Posted by davenjess

Posted by maybeamommy

Posted by pandaworm

i'd be interested to know why a family member having ADHD would warrant testing for this. i've never heard that being a reason before.

ITA. I've never heard of a link between ADHD and Fragile X. If someone in your family had autism, that would seem to make more sense.

Take it easy. I can imagine that this news is really hard to hear - Fragile X is serious and can manifest itself in many different ways.

From what I read, the real problem would be if the levels were 55-200.

I read this also: There is a subgroup of individuals who have what is now called an "intermediate" or "grey area" sized allele. These are alleles with 45-55 CGG repeats. These alleles are not considered to be mutations and do not appear to be associated with any clinical features, medical issues, developmental disabilities or social/emotional difficulties. These alleles are identified as such because there is some unknown chance that they are unstable and may expand to a premutation in generations to come. There is no known risk for an individual with an "intermediate" sized allele to have a child with a full mutation.

Hope that brings a little comfort. I am very sorry that you are going through this

when we FIRST saw the OB - i didn't know what was 'wrong' with my cousin. I knew he was mentally handicapped, but didn't know in what way.

I asked my mom and was told ADHD (this was after they already made the decision to test for the gene) - in speaking to my OTHER cousin (his brother) - i was also told he has Aspergers Syndrome and a few other things as well. I'm waiting on word from my uncle as to the remainder of his 'issues'.

I also know my mom's OTHER brother has a problem, and my uncle would know that too...so i'll see what else is there.

thank you for the info - i truly appreciate it.

i haven't cried in an hour - so i take that as a positive step.

Re: Fragile X - any info?

Posted by sjm71505

Try to relax and wait until you see the genetic counselor to really understand what it means. I also was a little elevated and had to see a genetic counselor, . Based on my number, which was a 52 (higher than you) and considered in the intermediate category (it goes: negative, intermediate, premutation, and full mutation), I opted out of the amnio. The GC told me that there are no documented cases where an intermediate turned into a full mutation in one generation. It takes MANY generations and may never even happen. Ultimately, for me, it meant that my DD has a 50% chance that she got my X that is at a 52. If she got it, it could have increased but would have had to go to over 200 to be Fragile X. Getting an amnio would have given no information that would have affected me. I will inform my daughter when she decides to have children to have it tested to see if she got that X and what the number is. It was really scary to be discussing it, but once I got over the fear and looked at the facts, it really wasn't that big of an issue. They would have given me an amnio if I wanted but the GC did not feel it was necessary and DH and I agreed. And, my DD is perfectly fine!!!
Don't do too much research on the internet, you'll make yourself crazy and it is complicated so let the GC explain it
Hang in there!

Re: Fragile X - any info?

direct info from my cousins' email:

I know that one thing he has is Asperger’s Syndrome. One of the symptoms that I remember is that he doesn’t handle social situations properly, and I think he tends to bond to one person in particular. This leads to problems before you can attribute it to a specific disease. Once you can it is just troublesome, but you get more used to it.
__________________________________________

me personally - i have seen/hung out with my cousin only 3 times and all the times it struck me how 'innocent' he seemed. I remember when they came out here and i was younger (maybe 13) - we went into the city and he had terrible nightmares because of the lights in the subway...(not that this means anything - but it's just a memory that sticks out).

I know he does live in 'special housing'....will get more info from my uncle soon.....as asking my mom i guess doesn't quite get me 100% of the info all the time. (although it's possible that she didn't know).

Re: Fragile X - any info?

Re: Fragile X - any info?

Posted by MrsPowers

Posted by davenjess

direct info from my cousins' email:

I know that one thing he has is Asperger’s Syndrome. One of the symptoms that I remember is that he doesn’t handle social situations properly, and I think he tends to bond to one person in particular. This leads to problems before you can attribute it to a specific disease. Once you can it is just troublesome, but you get more used to it.
__________________________________________

me personally - i have seen/hung out with my cousin only 3 times and all the times it struck me how 'innocent' he seemed. I remember when they came out here and i was younger (maybe 13) - we went into the city and he had terrible nightmares because of the lights in the subway...(not that this means anything - but it's just a memory that sticks out).

I know he does live in 'special housing'....will get more info from my uncle soon.....as asking my mom i guess doesn't quite get me 100% of the info all the time. (although it's possible that she didn't know).

Jess- I am so sorry you have received this news but I agree with the others, please try not to stress. Wait and see what the GC says.

Also, it does sound like your cousin has Asperger's Syndrome which does involve a lack of awareness of certain social situations. It also can span a large range of intelligences and etc.. I have worked with kids that are brilliant and lack social cues in certain situations that have Aspergers.

I agree with others that I am unsure what the correlation between Fragile X and Asperger's is but I will definitely look into it.

Hang in there!

Re: Fragile X - any info?

I am praying for you and your baby.

Re: Fragile X - any info?

Oh Jess! I'm so sorry you are going through this and I really hope that because your number is so low, that you won't be a high risk factor.

You are a strong, strong woman and I know you will learn everything you can and be as prepared as you can, just in case. That's what I love about you

All my prayers and support

Re: Fragile X - any info?

just to update - our appointment is on December 24th with the Genetic Counselor...

Re: Fragile X - any info - updated in last post.

I'm so glad you have an appt soon....let's get these questions answered!!! Dec 24th will be here in a flash!!