New RE: Back to Square One?

So yesterday was my consult at the Sher Institue in NYC with Dr. T.

I must say Dr. T’s reputation of being a really nice guy was proven true.  Sitting on Dr. T’s desk was my encyclopedia of a chart from my two other RE’s, I felt bad for him having to read all of this.  The first thing he said to me was “so you are a Fragile X carrier”.

Let’s rewind.  Before E and I started TTC, we had the standard genetic testing done.  It turns out I am a carrier for the Fragile X gene mutation.  Now, fragile X is confusing.  It is not a recessive disease, meaning that both E and do not have to be a matched pair.  Fragile X is an x-chromosome linked disease that can be passed from either parent and is the leading cause of inherited mental retardation.   I am considered to be a carrier, meaning I do not have expressed Fragile X but I do carry a mutation for the gene.  To make matters even more confusing, my mutation level is low and I fall into what they call the ‘grey area’, we can consider it a slight/ small mutation (but still not normal).  The good news is that this means I will not have a child with expressed fragile X, but I am at risk for passing this carrier status on to my children and it also means that not a lot is known about the impact of the mutation on me.  It is noteworthy that people who are considered to be pre-mutation carriers (the subgroup above my mutation level) are at risk for many potential issues among those are infertility, poor ovarian reserve, and early onset of menopausal symptoms (prior to age 40).  What you should also know is that no RE has ever taken me seriously when I posed questions about my Fragile X status and my infertility.

Back to the present.  Dr. T told me that there is virtually no real research on carriers at my mutation levels (I can find almost nothing on line as well).  But, indicated that in his experience, every woman he has treated with my level of mutation has had a history like mine- meaning multiple IVF failures.  While he does not think I am in early menopause and added that my ovarian reserve seems adequate, he suspects that fragile x could also impact egg quality and that this may explain the culprit in my IF.  Now, one would think this would be devastating, but in fact it felt so validating.  It has been historically really hard to accept that my carrier status was meaningless considering the problems that pre-mutation carriers face.  It is so bizarre to have this come up again given that my diagnosis occurred around Jan. 2007!!  Back to square one we go.

Anyway, Dr. T was not very optimistic.  He told me that he thinks getting pregnant would be difficult in a case like mine- meaning after repeated ivf failures and in a woman who makes not so stellar embryos.  He suggested more testing (auto-immune panel for E and I and a endometrial function test which checks for possible implantation issues).  He discussed 2 protocol options:  (1) estrogen priming IVF (2) or some kind of micro IVF which the cycle is thought would be best for me. 

His plan would be to do a series of 3 stimm cycles, all done with minimal stimm meds and freeze all embryos.  

He would do PGD testing on day 3 embryos, apparently at a lab where they can determine in the case of an abnormal embryo if the issue is with the sperm or the egg (cool, huh?).  it is unclear if we will culture the embryos to day 3 or day 5.  He told me he would transfer any embryo we had (if we have 6 we transfer 6) indicating that with my history the odds of 2 or 3 implanting are very slim.  Yep, this I already know.   Pre-transfer, he would do a endometrial biopsy to aide implantation and treat any auto-immune issues if those arise (also lovenox for my blood clotting issue as I have already been doing).  Theoretically, this plan stems from my pregnancy with H which was naturally conceived and low stimm meds are as close to natural as possible.   Dr. T postulates that perhaps high doses of stimm meds are impacting embryo quality for me (this is not so far off from Dr. S’s theory of stimm meds impacting implantation, hence my FET that just failed)

I asked him about DE IVF and he said that after auto-immune testing/ treatment he would give me a success rate around 70%, his clinic average, so perhaps this issue is on the table again (maybe).

I have many thoughts/ doubts about this plan and clinic.  Overall, I liked Dr. T and felt good meeting with him.  I also know that this center is not ranked as highly as my last center so it feels like a step down.  I am not so worried about Dr. T but have concerns about the embryologists and the embryo lab.  I also thought I would get some out of left field protocol with steroids and other things I have not really done in the past.  While this approach is different, it is not so different and certainly not out of left field, not sure if that is good or bad.

We have an appt with NYU in 2 weeks.  I still have frozen, shitty embryos.   I have been asked several times how this consult went, I have no answer to that question.  I have a possible plan which will probably not work given everything else.  What am I supposed to be make of that??