Sorry, no. But good luck

we've been ttc and started seeing a RE recently, after further testing found out i have this premutation, i am "super borderline", my number is 55 (range 55 - 200), if the test was done next week, i could be 54 (my doctor's words), found lots of info online (with different number ranges) that suggest my # is in the intermediate/grey area, not a premutation.....so who knows anymore, was totally shocked and now somewhat ok but not many ppl know

hope your ivf was successful!! did your RE recommend ivf right away or was iui attempted first? best wishes

Hello! Thanks for your reply! Well, my first IVF was technically successful, but I miscarried after only a couple days. We had 8 embryos, 4 of which lived long enough to be tested. Of those 4, one was affected with fragile x, one didn't have any DNA markers, and 2 were healthy. By the time we got to the transfer, one of the healthies had stopped growing. My RE said that the PGD does make the embryos a little less viable.

The preimplantation testing is done on 3-day-old embryos, so IVF is the only way they can do that. My RE started me on IVF first. I had trouble with my insurance company because they wanted me to do IUI's first. Luckily I appealed and they reversed their decision at the last minute.

Supposedly Fragile X carriers do ovulate regularly, but ironically, we don't always respond to the stims for IVF. They were really, really happy with my 9 eggs.

I'm gearing up for a second round of IVF, which will start in a couple weeks. My RE changed my drug protocol, so I'm excited to see how it all plays out!

Have you met with a genetic counselor? We found it helpful when we met with someone from Brigham & Women's because she was able to give us more detailed statistics. Good luck with all this and please keep in touch.

good luck to you too on your next ivf cycle!! -- i have some experience with fragile x b/c my sis-in-law is a carrier and 2 of her 4 children (1 boy & 1 girl) have the full mutation, it's tough especially with my nephew....we have not met with any genetic counselor but it was mentioned as an option once we get pregnant, but i thought you're supposed to meet before getting pregnant??....at times i wish i just didn't know since this just adds a whole other layer of stress to an already stressful situation.....did your parents get tested? are you the first known carrier?

Thank you! I'm really hopeful for this IVF round. They've changed up my medication protocol and I'm excited about it.

Definitely make an appointment to see a genetic counselor! More information is definitely better than less! I had the same reaction as you... shouldn't we have the genetic counseling appointment BEFORE we get pregnant? But I didn't know about my carrier status until I became pregnant in Jan 2011. They tested me for a whole bunch of things at my 8 week ultrasound visit, and 2-3 weeks later the nurse called to say that my blood test had come back positive for Fragile X. I quote, "We advise you to stay off the internet. We have made an appointment for you to see a genetic counselor." Well, of course, when I her THAT, what's the first thing I'm gonna do???

A few days before we were supposed to see the genetic counselor, I miscarried naturally. The baby had died at 9 weeks, but no one knew about it until 12+ weeks when I finally started spotting. I was a few days away from announcing my pregnancy to the world. Anyway, as soon as they knew I was miscarrying, they canceled my appointment with the genetic counselor!!! In retrospect I cannot believe how my OB's office totally dropped the ball. I didn't think about it again until my good friend, who happens to be a doctor at Brigham & Women's, got wind of my Fragile X situation and practically forced me to make an appointment. I'm so grateful to her.

I chose the PGD route because I really want biological children, and there is no way to know how severe the mutation would be in the next generation. I had such a hard time with my first natural miscarriage that I knew I would be really messed up emotionally if I chose to terminate for medical reasons after an amnio at 14-16 weeks. The idea of implanting only healthy embryos just seems right to me.

My parents had different ideas, though... and I had to convince them to give me their DNA for the PGD testing, which was no easy feat. For some reason the lab needed my DNA and my husband's DNA as well as both of my parents' DNA for the PGD. They explained it to me but I don't understand it enough to explain it to anyone else. When the tests came back, they showed that it was actually my dad who was the carrier in the previous generation, which is rare because it's usually the mother. It was a big excitement in my RE's office, so I'm told.

There is no one else in my family who has any hint of Fragile X, which probably means that my dad was either the first mutation or the only one of his siblings to get the gene. We figured out that my female cousins could be carriers, but their kids don't show any signs either, so they'll get tested someday before they have their own kids. It is still a HUGE mystery why I was even tested for Fragile X in the first place. It is not a standard test by any means, and I have no family history of mental retardation or autism or anything!

Overall, once I found out the statistics and my options, I was less stressed because I had something concrete to think about. Now I'm just really hoping that the IVF works!

THe genetic counselor told us that under 45 repeats is considered normal, 45-55 is considered the "gray area," 55-200 is considered to be a carrier, and over 200 is a full mutation. I guess you're in the gray area! Doesn't make things any easier, I'm sure...

what was your dad's repeat #?

I actually don't know! I can't believe I didn't think to ask. If I find out, I'll let you know!

please let me know, very curious to see how much the number increased from him to you, i haven't told my parents yet

Hello! this is a few months after everyone's original posts, but hopefully you're still checking them. I found out I was a carrier for Fragile X about three years. I have a half sister and we both got it from our dad. It's very rare for males to be carriers, however he is now older and has dementia and we believe it is as a result of the Fragile X gene. He refuses to be tested. However, neither or our mothers have it and we have a cousin on our father's side with the full mutation so we know it came from him. When a male is a carrier, all his daughters will get it, but none of his sons.

My husband I tried three times to get pregnant naturally as my sister and female cousin both were able to have healthy daughters this way. My first pregnancy in July 2010 ended in miscarriage. When they did the testing, it would have been a girl and she would not have had the gene at all. Irony at its best. My next two pregnancies were boys and they both had the full Fragile X mutation. My husband and I made the extremely difficult decision to end the pregnancies. Having watched my family go through what they did to raise my cousin who has the full mutation, I refuse to do that to a child. I know others may disagree, but this was the best decision for us.

Last year, we decided to do PGD and IVF. We were very hopeful. Because I had gotten pregnant three times on my own, I never thought getting pregnant through IVF would be a problem. I was more concerned about producing enough eggs and having unaffected embryos. They retrieved 12 eggs from me, 9 made it to testing and we wound up with four unaffected embryos and we were delighted.

We did our first frozen embryo transfer this past September with two embryos, but we did not achieve pregnancy. We then tried again two weeks ago. One of the embryos did not make it past thawing so we only had one left to transfer. We transferred it, but found out two days ago it also did not work.

I am currently devastated over this and have been in search of a support group such as this. Since I got pregnant three times on my own, it never occurred to me the frozen embryo transfers would be an issue or that they wouldn't work. I keep second guessing myself, wondering if I did anything wrong, but the doctors have no answers as to why it didn't work.

I'm curious to find stories and experiences of others who have gone through this as I currently feel very alone in this. I am surrounded by friends who get pregnant and have babies like there's no tomorrow. While I want to be happy for them, it also makes me incredibly sad.

Any and all replies, stories, etc. are extremely welcome. i would really love to hear from others dealing with this.

i have the full mutation of fragile x and i am a carrier my son has fragile x and autism. i have not had the ivf. my repeats are high and so are my sons. i was born with fragile x but they didnt know anything back then. i went to a fragile x clinic in miami florida i live in florida and they were so wonderful and and specialize in fragile x my family on my moms side has fragile x so we wil going down there from time to time. but they where the answers to my prayers

Hello,

I'm a Fragile X carrier with 106 repeats. We're going to start IVF with PGD later this month and I'm getting very nervous. Any success stories anyone can share with me? Or not. I just seem to see a lot of not-so-successful stories, so something positive would be very helpful!

Hi there
This is the first time I am on a board and its very strange. I have been stalking the boards for a long time but finally decided it was time to put myself out there. I also have the prermutation (64 repeats) and did IVF and pgd to have my daughter who will be 2 in August. We actually did not know at the time we transferred the embryo if she was affected ,a carrier or did not have the abnormal x . We had done batched embryos and were on our 5th cycle of ivf and she was a hatching blast female, but that was all the information that Genesis got from the day three biopsy. The other embryos were affected or also did not give a conclusive answer.
We had batched 2 cycles that time and had previously implanted after batching 3 cycles which resulted in a chemical pregnancy.
Transferring an embryo that we only knew was female was hard and felt like we had opened pandoras box(I cried during the transfer)But it paid off and she is normal and unaffected. It was a huge gamble-I had to wait for an amnio and only got results at 20 weeks because I found out I had a clotting issue early on in the pregnancy and CVS was considered unsafe.
So that's the back story
Currently we are back in it with the plan to do PGD again-this time at D5 with less risk to the embryos and more information from more cells. Its so exhausting and scary. I never admitted that before-I am so extremely private about this that only my family know what we are doing. I have a hard time opening up and letting people in -just sort of soldier through, which is probably not that healthy but its how I have coped in the past. Right now I would love to have people who are going through the same thing in my corner. The pgd does add a different dimension to things and makes them harder, but there are success stories out there and when it works it is a wonderful feeling knowing you have done everything to protect your family from what you have gone through and from expansion down the line
Hope to hear from you mcaf

Hi... about to begin IVF and have >200 repeats but no symptoms. Very worried about the number of viable embryos we will have after PGD. Will keep you posted on what happens!

Hi
So I thought I would add an update and hopefully give people doing pgd for fragile x some hope
I am pregnant! With twins!!
finally after almost a year and a half of ivf had two unaffected embryos that were ok quality (not great and the odds of twins with my age and these embryos was about 3%)
Anyway it's a hard road but I am glad I was able to do it and the relief of knowing my children will be unaffected is huge
Pls message me if you are considering this route- I'm happy to give any input I can x

I can see that people haven't posted in this discussion for a while. I want to say that JLoofboro and mcaf I really hope it all worked out well? An update? It was reassuring to hear magnolia123's story and hear that she had a successful daughter using PGD. Although it sounds like a very stressful process. magnolia123 I hope that it was successful again with your second child.

I just recently found I am carrier with 63 repeats and am wondering if PGD is the best route. I don't want to pass this genetic condition on in any form. Strangely my doctors office seems to push me towards not doing PGD- which I don't understand.

Any advice, support or comfort would be great.