(If you've been): Luteal phase defect and premature ovarian failure
associated with fragile x premutation
are you doing this cycle? (Testing? Treatment?) This has been our testing cycle. Originally we would have been going to letrozole + TI in March, but now I'm not sure. My genetic testing done by the RE came back showing that I have what is called a premutation of fragile X. For me, this explains my low AMH and poor egg quality, which are both symptoms of premutation. (There are also other health risks later in life which are terrifying but I suppose nothing is to be done about them at this point.) The TTC problem is that I have a high chance of passing on the full mutation to a child, which causes serious problems including severe mental retardation, severe autism, and before that a generally higher risk of miscarriage. There were a couple days after finding out last week where DH and I were totally crushed, like curl up and cry crushed. Now it's a little more distant, less fresh a hurt I suppose, but we aren't sure yet what we are going to do. We're going to the RE's tomorrow to get some advice and request they refer me for another, special genetic test for fragile x that can predict my personal risk for passing on the premutation versus the mutation. We haven't decided yet if we want to keep TTC or move to IVF + PGS in which case we could select only embryos with my good x chromosome. Which by the way we cannot afford. Anyway it's been confusing and exhausting and I feel horrible all the time.
are things going? Horrible. See above.
GTKY: Yes, our exciting Valentine's plan is to go to the RE! But if we aren't too distraught afterward, then we will go out to a late lunch in that part of Long Island at a place we don't normally get to eat.
@antoto I'm curious about shopping around because I have no idea how one does it. We're you able to just call other doctor's offices, or did you have to set up appointments for each? Were you able to figure out why such a big price discrepancy? It's a brilliant idea since we'd be OOP if we had to do IVF. I'm interested so I can start planning.