I feel confused...sharing my thoughts. Input appreciated. (very long)

IBackBevo

So I recently got my "undetectable" AMH test back and have been trying to decide what to do.  Part of what gives me pause in running back to an RE is that none of them seem to know anything about my specific issue and I feel like they are just going to give me the old "house is on fire" speech AGAIN.  The diagnosis I was given was "DOR"  but technically I have "Fragile X Associated Primary Ovarian Insuficiency" ("FXPOI").  I know this from my own research. My last RE, even though he is a very well-respected RE, sent me to a geneticist because he didn't know anything about the FMR1 mutation. The nurse even let it slip that he had not seen this before.

The thing is, my own research indicates that "FX-POI" does not behave exactly like true DOR or POF does...even the National Fragile X website states that women with FX-POI can go into menopausal type states but then resume menses again.  While they do sometimes experience POF, it is usually in the early 40's.  Basically, what I have read is more that this is sort of a life-long subfertility issue as opposed to a true "dimminishing ovarian reserve."  But, none of the doctors I have seen seem to know a DARN THING about any of this.   

I have only found one clinic that seems to do any research in this and it is out of New York. I contacted them, but they basically told me I need to come to New York (from Houston), have a $600 consultation appointment AND they want us to have ALL of our testing redone (another several thousands dollars since we are 100% OOP).  I think this is a big money grab. (DH agrees.)  I'm fine with restesting things that can change like hormones but there is no way I need to have some of the other testing redone. By way of example, I do not need to have my DNA tested again (a $575 test) for Fragile X. DNA stays the same.  And DH doesn't need his re-testing done either.  His last sperm count was 880 million with everything great. There clearly isn't a problem there.

So this morning, I emailed the National Fragile X organization to see if they can help me find a doctor or give me more info.  I don't know if I will hear back or not...

However, in reading, I found something very interesting things that seem to exactly not only describe me, but also sound alot like my Mother.

"FXPOI is a condition in which the ovaries are not functioning at full capacity in an FMR1 premutation carrier. Common symptoms of FXPOI include absent or irregular periods, symptoms of menopause such as hot flashes, etc,...and infertility."

I've been having many of these symptoms since I was in my teens and early 20's.

"Among the first effects reported in premutation carriers were an increased rate of twin births ...decreased ovarian function...irregular cycles."

My Mother had twins. Her grandmother had 2 sets of twins.

"Even though women with FXPOI may develop symptoms similar to those of menopause, such as hot flashes and vaginal dryness, FXPOI differs from menopause in some important ways:

• Women with FXPOI can still get pregnant in some cases because their ovaries may occasionally function to release viable eggs. Women who have completed menopause cannot get pregnant because their ovaries no longer release eggs.
• Women with FXPOI can experience a return of menstrual periods. Women who have completed menopause will not have menstrual periods again.
• FMR1 premutation carriers can have normal ovarian function, but can still go through early menopause, which is menopause occurring between 40 and 45 years of age (menopause normally occurs between 45-55)"

All of this sounds like not only like me, but exactly like my Mother.  She went through menopause in her early 40's. She had irregular periods. She had twins.  There was 12 years between my brothers (the twins) and I, but yet she still had me at the age of 34 without any ART.

So all of this has me thinking...can I really depend what the typical logic about "DOR" and "POF" is when it appears that my specific condition somehow functions differently?  Do I really need to get all in a tizzy that my biological clock is at 11:59 and menopause is knocking at my door or could I just have this sort of "subfertility" that is described above?

I feel confused...Any thoughts?

God bless you if you got through this novel!

LnR70707

Goodness, I am confused just reading what you've shared here.  It sounds like natural pregnancy is possible, but pretty slim?  Would waiting a few months and having your AMH re-tested produce a different result if things really do fluctuate?

Unluckily I know basically nothing about this area of IF, so I'm not much help.

IBackBevo

L&R70707:

Goodness, I am confused just reading what you've shared here.  It sounds like natural pregnancy is possible, but pretty slim?  Would waiting a few months and having your AMH re-tested produce a different result if things really do fluctuate?

Unluckily I know basically nothing about this area of IF, so I'm not much help.

Well, basically, my "plan" (if it can be called that) is that I want to be super healthy for the next couple of months: clean up my eating, take vitamins and supps, lose some of the baby weight, get my blood pressure down (I had pre-e with LO) and then re-test...and try to come to some sort of a decision then.  I'm up in the air on whether I want to go see a local RE in the meantime or not.  I was interested in doing a telephone or email consult with the NY RE group, but they just frusterated me because I definately got the "money grab" feeling...and that is exactly what I did not like about my last RE's office.  They had great stats, but I felt like a number.

lovebug33

I don't have any advice, just wanted to say I'll be thinking of you!

RoseHQ12

I am thinking that when all of this is said & done, we should all come together & open a fertility clinic, I think between us all we could do a better job at diagnosing than the RE's I think given that with very low AMH & high FSH (when your LO was conceived with relatively minimal intervention) it backs up all the research that you are coming across & also the path that your mom was on.  I too think it might be a good idea to wait a month or two & retest AMH.

When I went to CCR.M they wanted me to repeat all of my bloodwork & DH's too.  I told them that I was pretty sure that our blood type & genetic info was not going to change, so I insisted that they talk to my Doc & of course he couldn't argue with that logic & I didn't have to redo genetic specific tests.

I think without going to a specialist that is well versed in FXPOI you are going to know more about this than any of the RE's that you have seen up to now.

I wish that finances & work etc. didn't have to get in the way of finding the best treatment.

 

 

CallMeAl

Oh Bevo, I'm sorry you are feeling stuck. I think emailing the Fragile X foundation is a really good idea and I hope they can point you in the right direction. 

It really does kind of sound like the NY clinic is being a bit unreasonable. At least from my research (which I know is sort of on a different slant from yours) it just doesn't seem like they (being the research community in general) know much about infertility (either male or female) related to Fragile X yet.  

Man, that was a lot of parentheses. If you don't get an email back, I would call the Fragile X foundation. Sometimes an old school phone call can do wonders where an email gets lost in the mix.

What about some of the other big name clinics, like CCRM? Think they would have any more experience with FXPOI? 

IBackBevo

CallMeAl:

Oh Bevo, I'm sorry you are feeling stuck. I think emailing the Fragile X foundation is a really good idea and I hope they can point you in the right direction. 

It really does kind of sound like the NY clinic is being a bit unreasonable. At least from my research (which I know is sort of on a different slant from yours) it just doesn't seem like they (being the research community in general) know much about infertility (either male or female) related to Fragile X yet.  

Man, that was a lot of parentheses. If you don't get an email back, I would call the Fragile X foundation. Sometimes an old school phone call can do wonders where an email gets lost in the mix.

What about some of the other big name clinics, like CCRM? Think they would have any more experience with FXPOI? 

The original clinic I went to is affiliated with CCRM and my doctor actually talked to the main doc there (I think it is Schoolcraft?) about my case.  My original RE's oncentration was just on my bad numbers and recommended going straight to IVF.  He did send me to see a geneticist because he didn't know much about it, but the geneticist did not seem to know much more than to say that my repeats were low enough that the odds were low that my LO would not have a full mutation.  She did not seem to know much about "FX-POI." 

My RE acted I could go into menopause at any time and my odds of having a child even with IVF were not great--and this was when my AMH 0.54.  He thought IUI was a waste of time. Then I got pregnant my first round and he called it a miracle. 

So far, I have known more about it then anyone I have encountered in the medical field just based on my own research. 

I just go back and forth between feeling like I would be stupid to ignore the numbers and need to do something asap (if I want # 2) and feeling like that I may be one of those rare cases where (for whatever reason) the numbers alone don't tell the entire story.

IBackBevo

Rose- I definately agree that between all of us around here, we probably could open up an RE practice, lol!

And I think you are probably right that unless I go to someone who specializes in this, I probably will know more then them...:(

DrRx

I'm sorry you have to go through this.  Such a tough situation.  It is so frustrating because you can't get all the information to make such an important decision. ((((hugs))))

ELF4321

I wish I had anything useful to say.  I'm sorry you're having so much trouble finding a doc who knows anything about this.  Are there internet support group boards for women with the fragile X mutation?  Is it possible someone in a group like that might have done the leg work and found other doctors who could help you? 

itsmevkb

Although I do not think your biological clock is at 11:59 I think the issue is that you have no idea when it will hit 11:59 and chances are that it will get there sooner (by age 40) rather than later (at the normal 45ish).

It's good to know that you may experience some periods of not being as fertile and then have your cycles return and be more fertile again but I'm just guessing that in the midst of ttc again, if things aren't working,  you will not find much comfort in thinking that MAYBE your fertility will return.  In the same way that if I begin the early stages of menopause at 45 I may still have some cycles where I'm releasing an egg but that isn't going to make me think I will get pregnant on my own.

I totally understand why you're confused.  For me, I always need a plan, like what is my next step, and then once I have that I feel calmer about my situation.  It's the unknown that is hardest to deal with.  For you, right now, your plan may just be to continue researching and trying to find an expert who can better lay things out for you.  Or, you might want to just create a timeline that you're comfortable with, say we'll wait another year and then start trying again by doing xy and z. 

I hope you get something figured out soon.  It must be really hard.

IBackBevo

Thanks for the support!  And great suggestion on trying to find a message board. Unfortunately, everything I have found thus far is just about full-blown Fragile X Syndrome.  But I'm going to keep looking.

I did, however, find out yet another "symptoms" I have even as a carrier - I have hyperextensible finger joints. That is such a strange thing to be caused by a genetic mutation.

Mrs.AmyDylan

Sorry I'm late to the post. It took me a couple of tries to read your post and understand what you were saying. 

It almost sounds like you (and your mom and grandmother) have "seasons" of fertility. The trouble is that you may not know when they happen, how often, or if you can do something to trigger one.

I think there is still a lot they don't know about all the different levels (FSH, AMH, etc). It would be interesting to see if your levels come back up after a few months of concentrated health improvements (vitamins, exercise, diet,etc). It seems like if you were to try IVF in a season of infertility, the results could be a bit more unpredictable, whereas another time it might be as easy as sex (gasp!) or an IUI. 

I think you are going the right direction with research and changing the things you can control. I would hold off on the RE until you retest your AMH in a few months. Hugs to you!!