Guest guest Posted June 8, 2007 Report Share Posted June 8, 2007 Hi My daughter, Kirsten (4yrs), is the first in our family to have BPES and her genetics test done last year also showed a complete gene deletion. Our genetisist in Leeds told me that we can assume that she will get POF. I wasn't told that she will have absolutely no egg production! I was advised to take Kirsten to an endocrinologist when she is about 14 to check her hormone levels and basically assess her ovarian function. I told the genetisist that I would probably be the only mother who would smile if her daughter fell pregnant when she was 17! I don't think I will tell Kirsten that. Kirsten also has problems with her palate and I was curious to know if it may be related to the complete deletion and perhaps genes adjacent to FoxL2 have been affected in Kirsten's case. But I have never been told that Kirsten stands no chance of ever ovulating. Regards Parsons Harrogate (UK) --- In blepharophimosis , lisa obrien <hplisaobr@...> wrote: > > Hi Everyone, > > here from Ireland, 's mum. We got 's results back from the genetics centre and it says that the FoxL2 gene is totally deleted. I was wondering has anyone else had this same result?? I have only heard of partial deletion up until now, which could cause POF, but with the gene being completely deleted we are trying to understand the impact. Our geneticist has said that in his opinion that if the gene is fully deleted that means there will be complete infertility - no egg production etc.. But I am finding that hard to digest. So I was just wondering if anyone else was told they had full gene deletion so we could hopefully find out more about the impact? > > Sorry to have missed you all at the UK meet up, we are over in the UK in August to see Mr Collin for the day to see what the options are on future surgeries, and we are hoping to make it to the next one with , as it sounded fantastic, and Shireen did a fab job!! > > I'd appreciate any info anyone can provide on the gene deletion, if you'd prefer to send me a mail directly or call just let me know. > > Thanks & hope everyone is keeping well! > > x > Kildare, Ireland > > Send instant messages to your online friends http://uk.messenger. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 15, 2007 Report Share Posted July 15, 2007 Hi Just thought I'd catch up on BPES messages and saw you had posted a note for me. So apologies for the delay in responding. Kirsten has been seeing Mr Collin for over 3 yrs now. He has done all her ops, all 2 that is. She is scheduled for another lid lift using fascia lata in Sept/Oct. Her photos are under 'Kirsten Parsons'. Mr Collin is fantastic, you'll really like him. I have always wanted to visit Ireland. My grandparents were from Dublin and they were also O'Brien! Take care. Parsons Harrogate (UK) > > > > Hi Everyone, > > > > here from Ireland, 's mum. We got 's results > back from the genetics centre and it says that the FoxL2 gene is > totally deleted. I was wondering has anyone else had this same > result?? I have only heard of partial deletion up until now, which > could cause POF, but with the gene being completely deleted we are > trying to understand the impact. Our geneticist has said that in > his opinion that if the gene is fully deleted that means there will > be complete infertility - no egg production etc.. But I am finding > that hard to digest. So I was just wondering if anyone else was > told they had full gene deletion so we could hopefully find out more > about the impact? > > > > Sorry to have missed you all at the UK meet up, we are over in the > UK in August to see Mr Collin for the day to see what the options > are on future surgeries, and we are hoping to make it to the next > one with , as it sounded fantastic, and Shireen did a fab > job!! > > > > I'd appreciate any info anyone can provide on the gene deletion, > if you'd prefer to send me a mail directly or call just let me know. > > > > Thanks & hope everyone is keeping well! > > > > x > > Kildare, Ireland > > > > Send instant messages to your online friends > http://uk.messenger . > > > > > > > Send instant messages to your online friends http://uk.messenger. > Quote Link to comment Share on other sites More sharing options...
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