Oops. Need answers before tomorrow! Questions to ask your geneticist for IS?

[Doreen]

Going for a LOOONG overdue (and way too long wait time) for genetics testing to see what's wrong chromsomally causing my issues.  Basically testing for disorders of sexual development along the lines of androgen insensitivity and swyers syndrome / gonadal dysgenesis variants.

QUESTIONS?? if you were there in my place, what would you ask? Pretty please lol.  Here's what I've come up with:

1) Will insurance cover the testing (a no brainer, just double checking)
2) What is the likelihood of a diagnosis from this alone (% of people that don't get a positive result)
3) What will actually be done in the screening/testing, what are they looking for.
4) If there is no diagnosis/answers, what are my next options/steps?
5) How long until I get the results back or followup?
6) (specific one for me) Are you aware of relationships between disorders of sex development (DSD/Intersexed) and mega cisterna magna/arachnoid cysts
7) All I get are no answer, docs shrugging, multiple diagnosis and no help.  Suggestions on what to do next? Already seeing a specialized reproductive endo @ Duke.


What do you guys think? More questions please / advice definitely welcome.  Like an idiot I put this off till the last moment  

[Dena]

What are we testing for and what additional tests should we consider. Want to get this right the first time.

[Doreen]

What are we testing for and what additional tests should we consider. Want to get this right the first time.

That's a good one, I'll add that one on to Question#3.

[josie76]

Doreen, from what you have said in the past I would ask the doc what they think needs to be looked at.

If you were born with testes, ovatestes,
I'd ask about AMH (AntiMullerian Hormone) encoding gene and receptor gene mutations. These would also effect you partial uterus development.

If you were born with streak gonads then I would ask about the SRY gene and TDF (testes determining factor) receptor gene mutations.

I'm sure other genes could be involved but I don't know what else I would specifically ask about if I were in your shoes.

Good luck, I hope you find some answers.

[Doreen]

Doreen, from what you have said in the past I would ask the doc what they think needs to be looked at.

If you were born with testes, ovatestes,
I'd ask about AMH (AntiMullerian Hormone) encoding gene and receptor gene mutations. These would also effect you partial uterus development.

If you were born with streak gonads then I would ask about the SRY gene and TDF (testes determining factor) receptor gene mutations.

I'm sure other genes could be involved but I don't know what else I would specifically ask about if I were in your shoes.

Good luck, I hope you find some answers.

I do appreciate this.. though I've noticed over decades working both for & with doctors.. is there is a fine line to walk with their egos.  I'll certainly ask him about specific genome testing, but trust me.. ego stepping is an issue here.  If they even think you 'know too much' they tend to get quickly dismissive.

I wish this weren't the case, but I've seen this happen all too often.  (I'm a RN btw).  But yes, those are definitely good questions / tests to ask about. 

[josie76]

I do appreciate this.. though I've noticed over decades working both for & with doctors.. is there is a fine line to walk with their egos.  I'll certainly ask him about specific genome testing, but trust me.. ego stepping is an issue here.  If they even think you 'know too much' they tend to get quickly dismissive.

I wish this weren't the case, but I've seen this happen all too often.  (I'm a RN btw).  But yes, those are definitely good questions / tests to ask about.

I can see that being an issue. I tried asking my endo about me. His response was "Does it make a difference?" So yeh, doctors don't get why finding out why we are who we are matters much. And its just extra work they don't want to do. Good luck today.

[zirconia]

Perhaps what other tests are available, and might or could also be useful or informative?

[Doreen]

1) Will insurance cover the testing (a no brainer, just double checking)
   --Basically yes, but if there are questions via the individual lab testing they'll call me.
2) What is the likelihood of a diagnosis from this alone (% of people that don't get a positive result)
    --We covered the 40+% likelihood of potential diagnosis for swyers & variants, but by the sheer plethora of tests he ordered he's pretty convinced they'll find something. Of course there is still the possibility of finding nothing
3) What will actually be done in the screening/testing, what are they looking for.
    --Labs drawn with a BUNCH of genetics variants testing including mosacism, AMH, etc.  I'll have the whole list later.  Also direct physical exam in which he said I looked great lol.  Kudos to Dr. Kunaporn in Phuket Thailand..
4) If there is no diagnosis/answers, what are my next options/steps?
    --Basically he said wait till the lab work comes back & followup.
5) How long until I get the results back or followup?
   --2 to 3 months, maybe less.
6) (specific one for me) Are you aware of relationships between disorders of sex development (DSD/Intersexed) and mega cisterna magna/arachnoid cysts
   --Not to his knowledge at the time.
7) All I get are no answer, docs shrugging, multiple diagnosis and no help.  Suggestions on what to do next? Already seeing a specialized reproductive endo @ Duke.
   --I think he was a bit confused why I was getting more labs drawn, but he just kind of shrugged it off for now.

OVERALL my impression of him: (Dr. Hagianpour fyi, if you need a good geneticist) Very thorough.  Answered almost all of my questions even before I asked him.  Went over history in good detail.

I think he was pretty disgusted overall too at the medical treatment (or lack there of) I received over the years.  Especially skeptical of the pelvic cystoscopy in with the ob/gyn didn't see hardly anything internally.  His conclusions is some doctors are idiots.   Not his exact words, but since my memory sucks that was the gist of it.  I couldn't agree more, sadly.  Fortunately he was a fantastic doc, in my opinion.  He can't fathom why they didn't send me to a geneticist 20 years ago when they first found out I had an altered hormonal load in the first place.  Of course back then I was clueless, so... now I am 

He seemed very convinced that I'm intersexed.. to me there has always been that whisper of a ghost of doubt nagging me, despite all the ambiguity over the years.  And also very convinced they'll find a genetic cause, he suspects mosacism (XX /  XY genes).  We'll see.  I just hope something conclusive is found.  My formal diagnosis he told me is : XY mixed gonadal dysgenesis, unknown still about mullerian structures intact.  Of course this can change, but at least its something to sink my teeth into.  He's not the only one that came up with this diagnosis.  (Its a variant of Swyers syndrome).

Thanks for letting me bore you   To me its a voyage of discovery, best shared even if its somewhat anonymously. 

[josie76]

Certainly not boring Doreen. I truly hope you get answers. I'm glad you found a doctor who really seems to want to help.

[Doreen]

Certainly not boring Doreen. I truly hope you get answers. I'm glad you found a doctor who really seems to want to help.

Thank you. Best thing I can do at this point is... forget completely about it for 2-3 months.  Not easy doing because now I'm like a dog chasing a bone with meat on it.  I just hope the endo wants me to restart HRT soon.  Not that I necessarily HAVE to have it, but ... its a bit of a psychological help for me at this point.  Plus progesterone helps me sleep really well, something I am lacking overall. 

Life is a voyage of discovery for everyone.  Its just some folks have more bumps in the road