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Old 11-03-2006, 09:57 AM   #1 (permalink)
raz
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Gemma

How are you? I just wanted to let you know I got some real weird unexpected news the other day. Maybe this can give you hope, I don't know. After my sixth miscarriage I asked maternal fetal specialist to run the full gamit of miscarriage testing on me. It only revealed what we knew already, that I was homozygous for MTHFR. After the seventh miscarriage my regular OB decided to run another Karyotyping on me. Which I had one in 1993 that was normal.
Well 2006 karyotyping on me came back abnormal. It seems I have a mosiac (meaning a mixture) of Turner's syndrome cells. Some of my cells contain the X chromosome for female sexing, and some do not. Since I have such a small amount of effected cells, I have no physical characteristics, but they believe the major concentration of them are in my reproductive organs. I am suppose to meet with a geneticist, but from what I can understand, If i pass an ovum without the x sexing chromosome, its 100% fatal to the fetus. Since Turner's is a sexed linked chromosomal defeciency, they think my odds of passing a normal ovum is very very small, Making the fact that Hunter was a natural conception and an x containing ovum very very very rare, and a true miracle.
What makes this situation doubly painful is I can carry a child to term, just not my own, as most of them are genetically incapable of living. I could carry any other genetically perfect life. Either way its all so expensive. How do you get an embryo donor? and if I did want to carry for someone else, I would be excluded just because of the miscarriage history. It's so weird.

Just because I have had the IF pain so long I would love to carry again, I hated being sick but I loved being pregnant. So I guess i am doomed to stop trying, and now to figure out what I have to do with the rest of my life. I am so lost now, my dream is over. Yes I do appreciate Hunter, but where do you go from here? I feel so worthless, like an empty shell. I am greatful that I haven't intentionally caused the death of my angels, but it seems like a stab in the back that I can have a baby, just not genetically my own, and I am getting older. Sigh, im just so mixed up now.

~hugs to you. I hope you have success soon~~

__________________
Your star shone brilliantly, if but a fleeting moment, etched forever in my heart. My heart ached so sadly when your light ceased to be, for me losing you, and for you, losing me.
16+ y ttc, 8 prg, 7 M/c
4 blighted O:90,92 x2,95
11/05 in c-s scar. 2/10/06, (9w4d-hb) 10/10/06 (9w1d -hb)
& 1 miracle 9/25/04 Hunter Isaac Lee

Diagnosis: Turner's mosiac syndrome
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Old 11-04-2006, 03:22 AM   #2 (permalink)
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Hi Raz

What a bombshell hon. I often wish that I could be told to stop ttc by a doctor but reading your news makes me rethink that totally. Wow, Hunter truly is a total miracle eh? How precious he is.

I am so sorry to hear your news and for you to lose the last bit of your dream to give birth again. Some of us long-termers here are a real rare bunch with our dx aren't we? If someone were to write a book about the really rare reasons why people m/c they need look no further than this board.

I guess your feelings are very very mixed. Like you say, it's a relief to know that it wasn't stress or any of the other things that we blame ourselves for in all this. However I can only think I would be devasted to have my dream snatched away from me. There is no way that insurance would cover any specialised ivf tx? Does it mean that Hunter will carry the gene as well? Hopefully you will be offered some specialist genetic counselling to help you come to terms with it. In the meantime you know where I am if you want to talk. I will be away from here from the 11th Nov to 25th Nov though as I'm on holiday.

My love and thoughts go to you Raz. I don't know how to say how sorry I am to hear your news. An enormous hug comes over the ether to you.

Gem
xxxxx
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History: TTC 15 years. We have loved and lost 10 beautiful babies and sadly have no LC. We have chosen now to build our family though adoption. 3rd Dec 09 we have been approved to adopt 1-2 children aged 0-4 years!! 29 Dec 09 matched with a 2 year old girl and her newborn brother! We meet our daughter on 5th March!!!
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Old 11-04-2006, 01:41 PM   #3 (permalink)
raz
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Location: South Carolina
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HI again!
Believe it or not, its the x sexing chromosome I am missing in some of my cells. It's not hereditary, I lost the x chromosome as my cells divided when I was an embryo. Neither parent passed it to me, If they had, I would have been miscarried. Missing the x chromosome is 100% fatal. The fact that Hunter got here, means he does have the X sexing chromosome and he is 100% normal. I am so blessed. I can only wish that wonderful blessing on you!
~hugs~ Know I am always here for you too.
__________________
Your star shone brilliantly, if but a fleeting moment, etched forever in my heart. My heart ached so sadly when your light ceased to be, for me losing you, and for you, losing me.
16+ y ttc, 8 prg, 7 M/c
4 blighted O:90,92 x2,95
11/05 in c-s scar. 2/10/06, (9w4d-hb) 10/10/06 (9w1d -hb)
& 1 miracle 9/25/04 Hunter Isaac Lee

Diagnosis: Turner's mosiac syndrome
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Old 11-08-2006, 11:22 AM   #4 (permalink)
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Hi Raz

Biology and nature is just so incredible. The way the whole pg business works biologically is amazing. The fact that Hunter defied all the odds and made it is just awesome when you think about it. Kinda makes you ask those bigger questions about life and things that happen.

I started my clomid today. I'm a bit nervous about it to be honest. A bit worried about hyperstimulation (especially as I'm flying out of the country on Sunday on holiday) although I'm on a low dose which shouldn't get my body too excited. I am definitely concerned about a multiple pg when I've managed to conceive twins naturally before. As I ov myself anyway a friend of mine reminded me of a story where a woman (Mandy Atwood I think) had fertility drugs who was ov naturally as well and got pg with 10 babies. Sadly she lost them all but what a scary scenario eh? Whatever happens is whatever happens but you know what I mean about being nervous. Enough can go wrong for me with a singleton, let alone add the multiple complications as well.

I'll check in before I head off but if I don't "speak" to you before I go I'll be back online towards the end of November.

Take care

Gemma
x
__________________
History: TTC 15 years. We have loved and lost 10 beautiful babies and sadly have no LC. We have chosen now to build our family though adoption. 3rd Dec 09 we have been approved to adopt 1-2 children aged 0-4 years!! 29 Dec 09 matched with a 2 year old girl and her newborn brother! We meet our daughter on 5th March!!!
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