These were originally all sent as emails, so please excuse any repeat of information.
I had trouble with missed periods back in high school so my ob/gyn put me on birth control to regulate them. Recently I decided to stop taking birth control (that was in Sept. 07) and haven't had a period naturally since. So my ob/gyn had some blood taken and a prolactic test was done. It was a little bit high, which indicates problems, so she sent me to a reproductive endrocronologist/fertility specialist.
They decided to do another prolactin test and also an FSH test. From what I understand, if my Prolactin is high but my FSH is normal, then probably the cause is my body just doesn't know how to release an egg on it's own, so it always thinks I'm pregnant, thus no period. But if my FSH is also high it could possibly mean that I don't have any eggs left to release, which means no kids. If my FSH is high then I'll go back to the doctor again to see what happens next. If is is just the prolatin then I'll just go about my life until I'm ready to have kids, at which point I'll go back to the fertility specialist for "help" having kids.
Here is my most recent update from my appointment with my reproductive endrocronologist): Dr. Williams was very positive, though surprised at the results of my last FSH test, it was 45, where 6-9 is normal. He told us about a friend of his who had an FSH level of 125 the first time and 145 the second time. The other doctor in his practice told her that she would not be able to have children and should consider egg donation, then she got pregnant naturally 2 months later. He also told me that the chance to still get pregnant (even with Premature Ovarian Failure) is 10-20% (I read online that it is 5-10%), not great, but still possible.
He said that my pituitary is working fine because that is what causes the FSH to adjust. FSH is what tells the ovaries to ovulate. With my FSH level so high he said that my pituitary is basically screaming at my ovaries to ovulate.On a good note my prolactin was normal (which is what inspired the FSH test in the first place). In 2 weeks I'll go get another blood test to check the FSH level again. If it comes back normal, then I'll see Dr. Williams again in 4 months, if it comes back high again, then I'll have another blood test done to check for a variety of Auto-immune diseases, and to check my chromosomes. If anything comes back abnormal then I'll schedule another appointment to see Dr. Williams. In the meantime, I'm going to be taking estrogen pills everyday, then at the beginning of May I'll start taking another kind of pill called prometrium (I think). These are supposed to help me ovulate "naturally". They will also cause a "little" period.
I went to see a genetic counselor (Shannon) who specializes in maternal and fetal medicine. She had my chromosomes tested and we found out that I have a piece missing on one of my X chromosomes and the same X is doubled. My other X is completely normal. So I almost have 3 Xs, but not quite because of that missing piece. Pretty much the piece that is missing is what is causing me to have Premature Ovarian Failure (aka infertility). It is also why I am short. My genetic counsleor said that I would probably be more like 5'6 or so if I had that piece there. The reason for this is the bone growth gene is located on my missing section. There are some other things on this gene, but the two main ones are what causes bone growth and fertility.
The effect this missing part of my X could have on potential biological babies is very significant 25 percent of the time. If I could have children (which they are 99.9 percent sure that I can't) I could potentially have a normal girl, a girl who is like me (short with infertility, etc), a boy who is normal or a boy who has the doubled/piece missing X. This is where that 25 percent comes in. This boy (since he would be missing a piece that he is not getting from his father - like a girl would) would have a lot more problems. I won't go into all the details of this, but the worst case senario is that it is fatal.
This past Monday I went to another genetist who deals more with individuals rather than effects on pregnancy & babies - she did a physical exam, talked to me a little bit about what I should expect for the future (hormone thearpy to keep me healthy being one), and also gave me my official diagnosis. I have what is called Turner's Syndrome. After my appointment I went to get an ultrasound on my kidney's and bladder. Those test results came back today as normal (I guess I'm born either with or without problems there-so that's a blessing to not have to worry about!). I'll have to get an ultrasound or a cardiogram (?) on my heart sometime soon & will have to do that yearly. Those are two of the things that were/are possible problems I could have. If I decide to have an egg donor and get pregnant I'll need a cardiololgist on my pregnancy team.... I'll have a whole slew of people taking care of me. I really lucked out because from what she was saying I could be a lot shorter (most girls are around 4'7), have webbed fingers, toes, neck; oddly shaped ears & bones, joint dsyfunction, curved back bones, learning disabilities, among other things. That's about it for now... when I get the test done on my heart I'll let you all know the results (my genetist is expecting it to come back normal... of course that's what my reproductive endrocrinologist said when my FSH test was initially high too... sigh). Please continue to keep me (& Jeri) in your prayers... I'm sure things will be fine, but we are now having to make decisions for babies in the future already.
I just realized that last time I wrote about all the medical stuffgoing on with me I left you with "I'm getting an ultrasound on myheart and I'll let you know how it goes" then I didn't write anymore!So here is the much belated update!My cardiogram went fine! :) I'll have to have another one done in October to make sure my heart is still healthy, and one every yearafter.I went to see a new ob/gyn who specializes in women with Turner'sSyndrome (what the geneticist told me I have if you recall from the previous email) but the second I walked into her office she exclaimed"you don't have Turner's Syndrome! You have Turner's Mosaic! "The difference? Chromosomally it means that rather than missing anentire X, I'm missing a piece. Physically it means that I lucked out with the missing piece of my X, some women have even more of their X missing which causes a lot more problems.
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