[Francesca13]

Hi Everyone,

This is my first time on this particular board....I've been hanging out on the injectibles one since that was my recent treatment.

I have spent the last 30 years of my life under the diagnosis of Kallmann Syndrome. This is very rare in females, but I've heard nothing but wonderful things about my fertility odds, and was ready to tackle this head-on when I started injections on August 5th.

However, today my world was shattered and I am just so, so sad. The doctor's office called today and told me that my karotype test came back negative for Kallmanns, but positive for Turner Syndrome. For those of you who aren't familiar with TS, the odds are practically nil for getting pregnant. IVF can sometimes be used with a donor egg, but basically nobody gets pregnant on their own, and the risk for miscarriage is really high.

I was in the car when I got the news, driving 3 hours to visit my parents. I cried the entire trip. So much to learn, so much to deal with. And here I am, in the middle of my 2ww, excited about the possibility of getting pregnant.

The only thing I'm clinging to is that MOST of my cells were good and that generally people with TS have ovaries will no eggs or eggs that "dry up" by the time they are 20. There was no evidence of this with me...I responded great to the Menopur and had a nice big follie on the very first cycle.

I have no idea what to think. My husband was trying to be supportive, but thinks I'm overreacting. My parents are just as devestated as I am. The RE is referring me to a specialist to talk to about this, but I think I'm going to call my RE tomorrow and ask for more information. I'm going to see what he says about continuing my treatment (assuming I'm not prego, which at this point I'm thinking the worst), just to have some information before I can get in to see this doctor.

Sorry this is so long, I'm just in absolute shock. I needed a place to vent and cry with people who understand what that word...infertility...really feels like.

Love to you all, thanks for listening to a newbie

[littleblue]

i'm so sad to hear your news. i don't think i can respond with any info on the diagnosis, but i can give you a virtual hug. infertility is so hard!

[Francesca13]

Thanks, LittleBlue. The hugs are felt and appreciated

I am sooooo down today, it's unbelievable. I dont' want to do anything except sleep and feel sorry for myself. I can't wait until Monday when I can call the doctor's office and get more information....everything I read is just "infertile, infertile, infertile". I don't fit the profile at all, and I refuse to believe it until I have tried everything!!!

[wannabigbabybelly]

Aren't there varying degrees of turners syndrome?

If your ovaries look really good and seemed to have responded well on ultrasound than I'd say you have a pretty good chance of getting pregnant or even being pregnant right now .

We used to foster a little baby boy with Turners Syndrome for several months. His signs were pretty visual on the outside. Kind of a mix between girl/boy parts. Nothing truly definative...but the Dr's said he had internal testes so they said he was a boy.

I was curious about the syndrome at the time and did some research but it's been years now. But from what I read it sounded like it was still possible to concieve depending on what organs you had.

You obviously have healthy ovaries or they would not have responded so well to the medication right?

Don't give up hope. I think you may find yourself with a special little suprise in the oven very shortly. !!!

[Francesca13]

Thanks for the supportive words!!

I have an appointment with a geneticist in two weeks...which will probably be the two longest weeks of MY LIFE!! I'm reading all kinds of things about miscarriages and birth defects if I AM able to conceive, but I guess I need the expert to tell me for sure.

My RE didn't seem to concerned. According to the nurse, he's fine with me doing my next cycle of injectibles, assuming this past one didn't work. Can't test for at least another 5 days....GRR!!!!

Thanks again for being there. So, so few people understand!!!

[Sams79]

I know nothing about turners, but I understand the heartache that goes along with anything infertility related. Hang in there & HUGS sent your way...

[bunniswife]

Originally Posted by wannabigbabybelly

Aren't there varying degrees of turners syndrome?

If your ovaries look really good and seemed to have responded well on ultrasound than I'd say you have a pretty good chance of getting pregnant or even being pregnant right now .

We used to foster a little baby boy with Turners Syndrome for several months. His signs were pretty visual on the outside. Kind of a mix between girl/boy parts. Nothing truly definative...but the Dr's said he had internal testes so they said he was a boy.

I was curious about the syndrome at the time and did some research but it's been years now. But from what I read it sounded like it was still possible to concieve depending on what organs you had.

You obviously have healthy ovaries or they would not have responded so well to the medication right?

Don't give up hope. I think you may find yourself with a special little suprise in the oven very shortly. !!!

Not possible. Turner Syndrome only occurs in females as it is the omission of the second X chromosome. It is a sex chromosome disorder where instead of having to XX chromosomes, the child has what is referred to as XO or monosomy X. Turner Syndrome women are usually short in stature, have webbing of their fingers and toes and neck, sometimes have only one functioning u shaped kidney and are infertile. We know this because I was pregnant with a girl who had Turner Syndrome. Although there are varying degrees of TS, usually all are infertile. I'm so sorry you got such a devastating diagnoses, although I must say you are fortunate to be here as most TS babies miscarry at a rate of 98%. I'm not sure what the odds of doing IVF is with your condition, if you are referred to a geneticist I'm sure you will get all the facts. Best wishes.

[Lilbodybigheart]

Hey Frecesca!

I know this post is a few months old but i'm new to the site and just read it. I also have Turner's Syndrome! I was diagnosed at birth and can tell you anything you want to know about it. I am so happy to find someone else with the condition that I can talk to that will understand what I'm going through and vise versa. I'm on here because I am infertile and needed support! Please contact me back