turners syndrome

[raytw]

scanning the boards to see if anyone else has turners syndrome

[Shetlander]

YES! I do!

I was diagnosed last week
I have Mosaic Turner's 30%, I found out after 2 miscarriages a hunch I had that something wasn't right with my hormones, and being VERY pushy with my OBGYN, which lead me to getting an RE who did Karyotyping.

I'm 27, so it's been a bit of a shock and the info I'm getting ...I'm just not getting any, other than "don't try to get pregnant again, you'll need selective IVF"

God, I really hope you're still on the site here.

[linden]

I don't have Turner's, but I know someone who does and she had 3 miscarriages in a row (under 30 years of age) before trying IVF 2/ PGD, which finally worked for her. Hang in there and good luck!

[raytw]

i'm bumping this up because i haven't been here in a while. sorry. i promise to be around more often.

linden, so good to hear that your friend was finally able to have a child.

i also had a miscarriage, turns out i have a blood clotting problem that when i trying a cycle with frozen embryos, i had to take blood thinners for. that one didn't take, but i really feel my first pregnancy would have been successful with the right treatment and meds.

shetlander? how are you? where are you? i don't know that i would not "try" to get pregnant again if i where you. i think it is good if you can get pregnant.

the reason for ivf probably is that you could use donor eggs and have a better chance at a successful pregnancy. i beliebe with your eggs you may pass the turner's to the baby that is probably why they advise against it.

[Shetlander]

Hi, I'm in New England, just had my first wedding anniversary yesterday.
It's certainly not been an easy year of things.

Ive seen 3 Drs

Repro.Edno, he said not to try again until the genetics Dr gave me the odds and that OB will order work up.

Obstetritian, she said not to try until the RE does a full work up on my other possible health issues as she didn't know what they'd be.

Genetics, well the Dr did meet with us, instead we got a socialworker and a medical student. They didn't order any testing, and told us it was up to the RE to tell us the odds of miscarriage or passing Turner's on.
They said very little if any thing of substance.

Thank God I'm going to Yale then! I'd hate to pay less and get a Dr that didn't know anything or do anything...
URGH!!

so I'm going again on the 30th to the RE, who's supposed to be going over the results of ordered tests (I had an echocardiogram and ultrasound on my kidneys) I was told I'd get a cardio MRI, but none of the people order it, they pass the buck.
So I'm thinking it'll be another couple of months until I find out if it's safe for me to be pregnant at all.

The reason they suggested IVF was to do PGD on the embryos to make sure I don't pass turner's on, not just because they don't want me to pass it on, but morover the likelyhood of continual miscarriage and possible still births and those kind of complications.
I've already come to the conclusion that there's no such thing as normal as far as people, and that no matter how much they do with PGD, they can't guarantee anything.
So it's a lot to think about.

They have so far said I won't need a donor egg, but I don't know, maybe all of my eggs are effected...
...we'll have to do IVF to find out.

[triciaism]

Hi!
I don't have it but . . .
Look up raz. She has it, does have a son after many m/c's and happens to be a nurse too! Always an inspiration when I read her posts.
Tricia

[raytw]

hey shet, if you can go with genetic testing of the embryos, that sounds really great!!!

haven't talked to raz in a long time, tricia, thanks for reminding me, have to look her up again

[raz]

Thanks triciaism,
raytw and Shetlander,
I pm'd shetlander.
I did not know I had a mosiac for turners syndrome until my last miscarriage. But in a nut shell this is what I know.
Turner's syndrome is the absence of one of the X sexing chromosomes. If the baby is female it should be XX if male it should be XY, a turner's female is 0X and a turners male is OY. The OX has a very very small chance of survival but will produce a pregnancy with a baby the resembles a fetus and can even survive to birth but will show almost neutral gender tendencies. A male turners is a OY and is 100% fatal when passed is always leads to a blighted ovum. The fact that you are a mosiac means that the missing chromosome is only present in a percentage of your cells, meaning the other percentage is normal. In my case I am 10% turners cells (OX) and 90% female (XX)
The reason IVF is recommended is so that PGD can be done to rule out all the embryos that do not contain the X chromosome. It is genetic and unfortunately there is nothing you can do to even predict your chances of a successful pregnancy other than the IVF with PGD if using your own eggs, or egg or embryo donor if you wish to go that route.
I was very blessed with my son. He was the fifth out of 8 pregnancies. I also have a mutatation in the MTHFR gene and had to take progesterone suppositories and ASA and mega doses of folic acid with him. He will be 5 in September.
Most symptoms of Turners or a mosiac for turners is related to being neutral gendered but with a mosiac you can view it like a mosiac picture. If you look at the whole picture, you see a normal human being, but if you take it to the individual cell level, some of them are abnormal.
I feel very blessed to be where I am today and have what I have today, and I can only give God the glory. May he bless you too, and know that it can happen at anytime. It has been a long journey for me and as much as I would love another, it is not meant to be. I was 35 when Hunter was born and I wouldnt trade him for the world.
~~~hugs~~~
Jess/Raz

[raytw]

very informative raz, thanks for explaining so well!!!

nice to hear from you and glad you and your boy are doing well.