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PGD for Fragile X

jeanie6292000jeanie6292000
in Secondary IF

I'm almost 37 years old and I have 121 repeats of Fragile X ( Pre-mutation). I've been unsuccessfully trying to deal with this for 1 year & 1/2 ( every time I talk about it I feel like I just found out) . I found out a month before I got married and I'm very lucky to have a partner that loved me enough to decide to spend his life with a partner that may not be able to give him the family he so desperately wants. So not only do I feel my dreams are crushed but I know he will be as well. 

I had my test created through Genesis Genetic lab which cause a whole bunch of family drama ( the messenger was definitely shot ) and I did my first round of IVF in Dec 2012 ( 20 eggs 13 fertilized and 6 blasts) unfortunately only 2 were not affected. I got my period in Dec after the retrieval and I got it in early Jan then I didn't get it in Feb, so I began to think the Premature Ovarian Failure was starting so I freaked out and decided I would do another cycle. 

I just finished my cycle with only 16 eggs this time, they lowered my meds cause my estrogen level was 5,107 at the end of my last cycle.

I'm dishearten by the lack of scientific data regarding PGD working for Fragile X. When I read NYU's (where I'm going) write up of their study on Fragile X they only had 18 couples in 2010, 3 couples that had success ( they didn't disclose what conditions they were testing for). I was so emotional about it when I spoke to the Dr. I just listened to what they can do but when I read what they have  done, its not as promising. I know the study was 3 years old but I just wish I had more to go on.

We are paying for this out of pocket, our insurance doesn't cover it so it's been very stressful. 

I was hoping someone could let me know what their personal experience is relating to PGD/Fragile X and give me hope.

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Re: PGD for Fragile X

  • whirliwhirli

    So sorry you're dealing with this! I found out last week (as I was getting ready to start my first IVF cycle) that I am a carrier (53 grey area/pre-mutation). I don't know if I have passed it to my current DD. This has quite likely caused my POF. Since we were planning to do CCS with IVF my RE made it sound like they could use PGD to test for fragile x. You've read information that it's not accurate or effective?

    I'm meeting with a genetic counselor next week and hopefully she'll be able to give me some concrete information. Given the fact I probably won't get many eggs through IVF and now will probably have to lose 50% or more due to fragile x, we're not sure we'll go forward with it. We do have some insurance coverage but it will still be costing us a lot of money.

    From what my doctor told me it did sound like they can successfully screen the embryos so you will be able to select ones that aren't carriers. Would you mind linking the study? I'm curious to what they define success as. I'm wondering if the lack of success is related to POF that a lot of women have as carriers. Luckily it sounds like you haven't been affected by the POF that this can cause so as long as the PGD can successfully screen for this it sounds like you've got a great shot.  

    Best of luck with everything!! I'm sorry telling your family didn't go well.. that really sucks. My sisters took it really well.. probably because they aren't planning to have kids (at least not for a long time). 

    Me 38, DH 34 Missed M/C 10/08 at 10 weeks DD born 8/09, TTC#2 since Jan 2011 Baby Birthday Ticker Ticker
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  • Magnolia girlMagnolia girl member

    Don't give up guys- it can and does happen. I have a daughter who is almost two and we did pgd for fragile x. We are currently going through the process again to try for number two and although it is really really hard sometimes, knowing what the reward is if it works, makes it so worthwhile it may take many tries(we are also out of pocket and starting our seventh cycle for number two) BUT as my husband says- there is no amount of money that could replace our incredible child and it will be the same when it happens again. I say when because although I often feel exhausted and stressed about this, I truly believe it will happen again 

    Sending love and hugs feel free to message me with questions.I am a veteran and I am so happy help in any way I can

    M 

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