Hi there - I was recently diagnosed with POF (premature ovarian failure) and after going through a few doctors one was able to narrow the whole cause to my eyes…I have BPES. Seeing that 20 some years ago little was known about it or that my parents never bothered to pay that much attention to the “clinical name” of the disorder. I am sitting here at 28, scared, worried, and confused. Does anyone have any information on any case studies or further research that is going on for POF with regards to BPES?
My chat probably won’t answer your questions directly but I wanted to share with you and with parents of girls with BPES what I discussed with a reproductive endocrinologist.
I have three children: girl, girl, boy. Number two, Hannah, has been clinically diagnosed with BPES; we will pursue genetic diagnosis soon - it was not covered by our public health body here in Qld, Oz, until recently. Hannah’s case is a sporadic one, ie we have no other relatives with BPES. I assume the genetic test will tell us which type Hannah has, though I’m not sure, and I know that test results are not 100% accurate anyway.
Hannah is two and a half years old.
The endocrinologist I saw listed options:
- harvest and freeze for future use Hannah’s own eggs before ovarian failure sets in (harvest about age 10-12 probably)
- harvest my eggs and freeze for Hannah to use if she wants to (my thinking: that way she could choose even if she has type 2 whether she takes the chance of passing BPES on to her kids - not assuming either choice is good or bad, just wanting to give her choices)
- anonymous egg donor if/when Hannah chooses to have children
- Hannah’s older sister donates eggs if/when that works for both Hannah and her sister
- my husband and I make embryos to freeze for Hannah to use in the future (ie, in this scenario Hannah would give birth to her own genetic sibling)
- ovarian strip harvesting and freezing for future use (or whole ovary)
- may have been a seventh option? can’t remember
Of course, there is also the adoption option, but not relevant to the consultation with the endocrinologist. There are ethical considerations to the above options, too, especially freezing embryos that may not get used.
At this stage, frozen eggs are not highly successful at producing live births. Apparently it takes about 100 eggs to produce one live baby, and each fertility treatment cycle produces on average 10 eggs, so that’s about 10 cycles - not a great option - I wouldn’t want to go through it, nor put my (then) 10-12 year old daughter through it.
Ovarian strip preservation is experimental at this stage, but we could do it in 8-10 years in case it proves useful to Hannah at the age that she might want children. There are two possible options with this, I think: transplant the tissue back in to Hannah to be stimulated to mature eggs, stimulate the tissue in a lab to mature eggs - I think the former has been done, the latter is a maybe-one-day.
Options 3 and 4 are for consideration in 20-30 years time.
Embryo freezing is the most viable option, purely from a scientific perspective. I can’t imagine how Hannah would feel about birthing and raising a genetic sibling, nor how her partner would feel about having no input into their child’s parentage. My baby number 3 is only 3 months old so is still breastfeeding and the drugs for fertility treatment don’t work so well on breastfeeding mums so I haven’t decided for sure yet what we’ll do on this front. Also I’ll be 34 in September so I’m becoming less of a great donor with age.
Maybe this info is useful to someone?
With regards to research, I think the group in Belgium who wrote the BPES article for the Gene Clinics site are mostly focussed on POF. You could try contacting them with queries and/or to see if there is research happening closer to you; or you could ask your doctor to contact them for you.
I hope you find some answers that work for you.
not much advice for you - i had the same diagnosis at the age of 27…we were told to use donor egg, but we instead opted for adoption!
good luck to you!!!
I have not officially been diagnosed with POF but I think I am on my way there. I too have BPES. My father has it and I am sure some members of our family have less severe cases. Both my father and I required multiple surgeries when we were younger. I found a lot of information out on the web that connected the two conditions and took the information to my OB/GYN. She was very receptive of the information until my FSH levels came back a bit elevated and she responded that birth control was the only option out there. I have found a lot of info that states hormon replacement is the better option. I had my doc recommend a reproductive endocronologist (sp) and I will go see her in November. There is a lot information out there on the web so keep looking. Also check with your doctor about going to a specialist.