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Old 06-28-2005, 11:57 PM   #1 (permalink)
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Default X-post Anyone had abnormal karyotyping results?

Just want to talk to anyone in a similar situation.

Thanks,
Karen
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Old 06-29-2005, 12:38 PM   #2 (permalink)
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Karen, I don't know of any active cysters with this known problem... I just want to send you some big hugs! I'll be thinking of you!
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Old 06-29-2005, 12:43 PM   #3 (permalink)
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Wombat Woman - I am sorry to hear of your results. I have not had karyotyping done (I think it's the one thing my RE didn't do.) Hopefully someone here will respond. Please let us know how your meeting with the geneticist goes.

Thinking of you,
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Old 06-29-2005, 09:36 PM   #4 (permalink)
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Thanks for responding girls,

I knew it would be a long shot but I had to try. You two are amongst my faves here on the boards and yes Saluki, I will keep you updated. If anyone comes along in the future with a similar prob to mine, (unlikely but you never know) please feel free to refer them to me if they need to talk.

You girls rock,
Karen
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Old 06-29-2005, 11:19 PM   #5 (permalink)
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Karen,
I will do that. Thanks for your kind words.

Can you surf around and see if there are any Yahoo support groups for things like this? I've found a couple for antiphospholipid antibody syndrome and reproductive immunology in general (both on Yahoo) that have been very helpful to me.
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Old 06-29-2005, 11:51 PM   #6 (permalink)
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Yahoo groups is a great idea! Thanks for the suggestion Saluki. I just feel so alone, sorta how I felt when I got the PCOS diagnosis, before I found this place. Maybe I can find a place like this which relates to chromosomal probs too.

Hugs to you,
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Old 06-30-2005, 12:21 AM   #7 (permalink)
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I love when cysters can help each other! Good luck finding friends on other sites, and I'll keep my eyes peeled too. We would definitely like an update on this, and I could include a link when I get all of my resources together for stickies.
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Old 07-21-2005, 01:11 AM   #8 (permalink)
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We saw the geneticist and I am going to try to keep it simple as we all know when it comes to genes, chromosomes etc. it can get fairly confusing.

Basically we normally have 23 pairs of chromosomes in the nucleus of each cell within our bodies. These chromosomes look like slinkys and hold gene and other stuff including just "padding" like stuff.

In my case, instead of two #13 chromosomes and two #14 chromosomes, I have one #13 chromosome, one #14 chromosome and one chromosome that is a 13 and a 14 joined toghether. So I have all the correct information but just arranged a little differently. It is called a balanced (because I am a carrier and not physically or mentally affected by this) Robertsonian Translocation.

Now the problem comes when we try to conceive because one chromosome is taken from the mother and one from the father to make a new baby. Remember we have pairs of chromosomes and it could be either of these that are thrown into the mix. Because two of mine are joined, if this chromosome is passed on, the embryo may contain in essence, 3 chromosomes instead of two when it comes to #s 13 & 14. This is know as a trisomy and always results in m/c if trisomy 14 and usually results in m/c for trisomy 13. There is a chance that the pregnancy goes to term, but the baby will be severely deformed or have severe learning difficulties.

OK..so this means that there is also a chance that nature may not choose this wonky chromosome and everything will be ok or that the our children may also become carriers just like me.

Of course its all a bit more complicated than that and I have simplified it but in essence that is it in a nutshell. This condition is hereditary but can just happen spontaneously in approx. every 1000 conceptions. Because I come from a HUGE family and no one else seems affected, we are guessing it just happened to me, like the PCOS (sigh) but I still should inform my brothers & sisters (who all have healthy children) because they may be carriers and their children and/or theirs may be affected. My father has passed away so there is no testing him, we could test Mum, but really would it help any? I didn't want to tell everyone about all this and what it means for many reasons including fear of being judged for our decisions ..I know...I know... and also I don't want pity. It is also our private business but I guess you gotta do what you gotta do, it's only fair that they know.

Now what can we do about it?

1. Keep up the Ovulation Induction injections (I do not ovulate thanks to PCOS) and just wait for a good one to result. How many heartaches can we endure until it turns out right? add to that I'm 36 years old.

2. Have IVF with ICSI, then test any embryos to see if they have inherited the wonky chromosome. Transfer only the good ones back in me and destroy the bad ones. This is called Pre-implantation Genetic Diagnosis (PGD). This is very expensive and is only offered in two places in my state, thankfully both in Sydney, my home town. There are also ethical considerations with this one for us.

3. Adoption.

4. Remain childless. I can't even fathom this one.

So..needless to say we have some very tough decisions ahead of us and we do see some hope but boy it's gonna be hard, but hopefully worth it all in the end. I thought hormones were fascinating, chromosomes are way interesting too even if mine suck lol..

If anyone is interested I have some websites bookmarked and can post if needed. I think thats about it for now, will add more if I remember something else.

Thanks if you made it this far.

Karen.
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Old 07-21-2005, 01:20 AM   #9 (permalink)
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Karen,
Wow... I'm really sorry your chromosomes suck, as you say, just like all of our hormones around here. You do indeed have some tough decisions ahead, and I wish you tons of luck with that! Sometimes I feel lucky that I figured out how to get my ol' bod to ovulate, and in times like this, I feel especially lucky that the raw materials were in good shape! I really appreciate your update and again will be thinking of you in the months ahead as you go forward. Parenthood is a very humbling experience, whether the baby survives or not, and even in the pre-conception phase!
Very Best Wishes,
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Old 07-21-2005, 04:46 PM   #10 (permalink)
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Karen,
I have full faith that you will become a parent very soon, whether thru the miracles of "natural conception", "assisted conception", or adoption - and you will be a wonderful mom.

Keep us posted on your decisions,
Meghan
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Old 07-21-2005, 08:46 PM   #11 (permalink)
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Thanks guys, love to you both,

Karen

oh and thank you for the gift Saluki.
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Old 07-22-2005, 03:11 PM   #12 (permalink)
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Hi Karen-

One of my dearest friends has BT. Her problems are with her 1st and 4th chromosones. She currently started her first IVF cycle with PGD. Here are some links she shared with me:

- http://www.conceivingconcepts.com/learning/articles/balanced.html
- http://health.groups.yahoo.com/group/balanced-translocations/
- http://www.rarechromo.org/
- http://www.ivfconnections.net/board/forumdisplay.php?f=36

I hope some of these help!
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Old 07-22-2005, 08:42 PM   #13 (permalink)
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Oh WOW H,

That info is unreal, thanks so very much for taking the time and effort to post. I will say a prayer for your friend. Would you mind letting me know how she goes? PM or post, I don't mind.

Hugs,
Karen
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Old 07-23-2005, 12:17 AM   #14 (permalink)
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Hey Karen-

I'm happy to help- I hope some of these links are of use to you.

My friend has her egg retrival Aug 9th, I think, so I'll know more then. I'll be sure to keep you posted! :-)

Here is a blog of a woman with BT trying to have her second child with IVF & PGD. She became pregnant with her first child on their own, and thankfully he was problem free. After multiple miscarriages, she's hoping IVF with PGD will be the key to having another child. Here is the link: http://julia.typepad.com/ She is just starting her second IVF attempt.
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Old 07-24-2005, 08:25 PM   #15 (permalink)
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Thanks again
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