No, but now is the time to get the panic out of your system and sit down with a genetic counselor. That should be your next step. If they don't offer you a consult, ask for one.
I don't think there will be many people here who have any idea what those #s mean, which is why seeing a genetic counselor is so important. They are trained to go over all the statistics with you and give you a realistic picture of what you're looking at.
IMO genetic testing (esp pre-pregnancy) is a great idea. Instead of going into TTC blind, or worrying about something while you're pg, you can have the information/knowledge you need so you can make your family-building decisions appropriately.
ETA: I did a quick search about the #s and the diagnosis (I used to do this for a living ). Here's how it works: there's a repeat of DNA "letters" that are important in brain and other development. Under 44 repeats is normal, and 30-ish repeats is optimal. 44-54 repeats is a "gray zone": those repeats may remain stable, or in the next generation they may expand to more repeats, causing problems. Over 200 repeats doesn't mean full-blown carrier, it means someone with full-blown Fragile X, with all the symptoms involved. Since your test showed 56 repeats, you're more or less in the gray zone and they'll need to talk to you in depth about where to go from here.
If I were you, I'd hold off the TTC, SHG, and HSG until you talk to the genetic counselor about the Fragile X prognosis. They will have recommendations on whether TTC is a good idea, or if other options (IVF with genetic testing, donor eggs, adoption) would be more advisable. If you happen to be pregnant, they can do testing and give you an idea of how your child is doing.
But one step at a time. See the counselor, go from there. GL
Thank you for your reply and advice. It is appreciated. I?m not really sure if I?m feeling better or worse today. I took a test last night and found out that I am indeed pregnant. Normal happy thoughts of pregnancy are not filling me right now. Instead I am filled with a complete sense of worry and dread because of finding these genetic results on the same day. If things for me thus far would have gone normally, I definitely would have held off on TTC until I received these results. But they have not.
To give some background ? I am 35 as of earlier this year. I went off BC in Oct of last year after having been on for 17 years. I had a planned annual exam in April, a few months later. I figured we?d sort of casually try and see what happened. When I went for my exam and told my GYN we were trying, she asked my permission to order a full work up of tests to make sure everything was fine b/c of my age. I said sure. We did a day 3 blood test with normal results and a day 21 glucose tolerance test. In a consultation with the office?s fertility specialist, I was diagnosed with a mild case of PCOS + insulin resistance. He prescribed me a Type 2 diabetes medicine to help with insulin resistance and to regulate my periods and ordered additional tests (HSG and Sonohyst) which I have not had at this point. He told me that he expected it would take me at least a few months to become pregnant and our next appt would be later this month. That consultation was one month ago yesterday.
I was able to set up an appt with a counselor on Tuesday, so I will learn more then. Obviously this is not how I would have chosen to do things, but I just had no idea that this would happen. It?s a complete shock that it did too b/c I?ve been feeling so sick from the glumetza (diabetes drug) the past month, hubby and I have not exactly had lots of intimate time.
This is just the worst feeling in the world b/c I found out such scary news and such happy news on the same day. I?m absolutely terrified and not sure how I am going to make it until Tuesday. The nurse I spoke to yesterday who gave me the results kept saying it was nothing to worry about, so I?m going to try and channel that and hope she?s right until I learn more.
Thanks for listening.
PS - if there is a more appropriate place for me to post this, please let me know. Apologies as I am new.
No worries, and congratulations on your pregnancy. Hopefully your appointment on Tuesday will bring you some peace of mind and you can move forward.
If you want to PM me to discuss things further, I'd be happy to talk to you.
GL!
Try not to worry too much. I did genetic testing and found out that my fragile x numbers were a little elevated (I don't have to worry, but if we have a daughter, she might). Even if you are at risk for having a fragile x baby, that doesn't mean it will happen (you have 2 Xs and only 1 is problematic). I think gender effects the odds too (I believe even if the baby gets your fragile x gene, if it's a girl, it will be ok because of the x it gets from the dad. Don't quote me though,). So take a deep breath and talk to your doctor. Right now there is nothing you can do but try to relax and eat ice cream.
Fricky
member
Re: (Untitled)
No, but now is the time to get the panic out of your system and sit down with a genetic counselor. That should be your next step. If they don't offer you a consult, ask for one.
I don't think there will be many people here who have any idea what those #s mean, which is why seeing a genetic counselor is so important. They are trained to go over all the statistics with you and give you a realistic picture of what you're looking at.
IMO genetic testing (esp pre-pregnancy) is a great idea. Instead of going into TTC blind, or worrying about something while you're pg, you can have the information/knowledge you need so you can make your family-building decisions appropriately.
ETA: I did a quick search about the #s and the diagnosis (I used to do this for a living
). Here's how it works: there's a repeat of DNA "letters" that are important in brain and other development. Under 44 repeats is normal, and 30-ish repeats is optimal. 44-54 repeats is a "gray zone": those repeats may remain stable, or in the next generation they may expand to more repeats, causing problems. Over 200 repeats doesn't mean full-blown carrier, it means someone with full-blown Fragile X, with all the symptoms involved. Since your test showed 56 repeats, you're more or less in the gray zone and they'll need to talk to you in depth about where to go from here.
If I were you, I'd hold off the TTC, SHG, and HSG until you talk to the genetic counselor about the Fragile X prognosis. They will have recommendations on whether TTC is a good idea, or if other options (IVF with genetic testing, donor eggs, adoption) would be more advisable. If you happen to be pregnant, they can do testing and give you an idea of how your child is doing.
But one step at a time. See the counselor, go from there. GL
Thank you for your reply and advice. It is appreciated. I?m not really sure if I?m feeling better or worse today. I took a test last night and found out that I am indeed pregnant. Normal happy thoughts of pregnancy are not filling me right now. Instead I am filled with a complete sense of worry and dread because of finding these genetic results on the same day. If things for me thus far would have gone normally, I definitely would have held off on TTC until I received these results. But they have not.
To give some background ? I am 35 as of earlier this year. I went off BC in Oct of last year after having been on for 17 years. I had a planned annual exam in April, a few months later. I figured we?d sort of casually try and see what happened. When I went for my exam and told my GYN we were trying, she asked my permission to order a full work up of tests to make sure everything was fine b/c of my age. I said sure. We did a day 3 blood test with normal results and a day 21 glucose tolerance test. In a consultation with the office?s fertility specialist, I was diagnosed with a mild case of PCOS + insulin resistance. He prescribed me a Type 2 diabetes medicine to help with insulin resistance and to regulate my periods and ordered additional tests (HSG and Sonohyst) which I have not had at this point. He told me that he expected it would take me at least a few months to become pregnant and our next appt would be later this month. That consultation was one month ago yesterday.
I was able to set up an appt with a counselor on Tuesday, so I will learn more then. Obviously this is not how I would have chosen to do things, but I just had no idea that this would happen. It?s a complete shock that it did too b/c I?ve been feeling so sick from the glumetza (diabetes drug) the past month, hubby and I have not exactly had lots of intimate time.
This is just the worst feeling in the world b/c I found out such scary news and such happy news on the same day. I?m absolutely terrified and not sure how I am going to make it until Tuesday. The nurse I spoke to yesterday who gave me the results kept saying it was nothing to worry about, so I?m going to try and channel that and hope she?s right until I learn more.
Thanks for listening.
PS - if there is a more appropriate place for me to post this, please let me know. Apologies as I am new.