Guest guest Posted May 18, 2010 Report Share Posted May 18, 2010 Hi Imy, Welcome!!!My name is Pam and only joined this group last month. I don't know what the test is called, I'm currently waiting to meet a genetic consultant myself!However, there are loads of other members who have helped me so far and they are Type 1. I hope you will get your answers Pam, Ireland --- In blepharophimosis , " imogenheffernan " <imogenheffernan@...> wrote: > > Hi, > > I have BPES and just joined the site. I was wondering if anyone has BPES type 1 (primary ovarian failure) and how you found out? Is there a genetic test you can have to find out which type you have? > Thank you! > > Imy > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 19, 2010 Report Share Posted May 19, 2010 Hi Imy Welcome to the group. I think there are more than 800 members … many of whom have several family members with BPES. As I am sure you can see from the posts there are lots of people with Type 1. However, because it is a sensitive issue, you’ll find that some people prefer to discuss this topic privately rather than on the bulletin board. I have been a member of this group for many years, and previous to that, part of a network (which started in the mid 1990s). I’ve met probably about 50 other members throughout the years, and I have spoken and corresponded to quite a few. So perhaps I can try to answer some of your questions. For many people “finding out the type” has been accidental or in passing. Some only found out by internet search, or joining this group, then subsequently following up on a hunch by contacting their doctor or genetics doctor. Other’s have been told the information by a genetic counsellor, from the outset, perhaps because the counsellor collected information about other family members. Some have had tests on their hormones (in much the same way that a person who is seeking assisted fertility goes about investigating their health). And a few have had a genetics test. So, it is hard to say. Please will one of the medics who are a member of this group answer your question about the tests? This is not an area that I have a lot of knowledge. Having said that … I think … but I am not sure …that the following is approximately right: If you are a woman of child bearing age, it is possible to determine your type doing an easy blood test. This test looks for things in your blood (you can see I’m not a medic, because I said “things”). Any woman can have a genetics test done. There are very few places that offer the test (you have to send away samples), and they carry out tests. I am not sure if they can be absolutely certain to give you an answer. Lastly – I have read that rather than there be two types, it is more a case of “some have normal fertility”, and “some have either less fertility or are fertile for few years”. AGAIN – please can people who are medics correct me? I think it would be a really good idea if you try to see a genetic doctor. Where do you live? Perhaps people could put you in touch with the person who they saw. Also – you make like to look at this link: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=bpes it is written by possibly the leading authority on BPES, and it is regularly updated. The doctor who wrote the article works at a lab in Belgium who offer the genetics tests. Also – it does refer to the tests. I am sure that if you sent this to your GP or a medic friend, they could go thru it with you, and explain the relevant parts. Failing that – use the internet to look up the medical terms. I can let you have a list of places in the USA who carry out the tests. Take care Shireen Mohandes London, England From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of imogenheffernan Sent: 17 May 2010 20:09 blepharophimosis Subject: blepharophimosis Types of BPES Hi, I have BPES and just joined the site. I was wondering if anyone has BPES type 1 (primary ovarian failure) and how you found out? Is there a genetic test you can have to find out which type you have? Thank you! Imy Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 19, 2010 Report Share Posted May 19, 2010 Hi Amy, I had genetic testing done for my daughter about a year ago (she is now 3) to detemine whether she is type 1 or 2. The doctor did not say anything about false positives, but her results were inconclusive, with the type of mutation that she has they could not determine whether she was type 1 or 2. Hope this helps. Micheline Montreal, Canada From: Amy Barr <abarr6@...>Subject: blepharophimosis Types of BPESblepharophimosis Received: Tuesday, May 18, 2010, 4:35 PM Im from California and my genetic doctor at Kaiser suggested that the test has a high rate of false-postives and doesnt recommend the test. Does anyone have any knowledge of whether or not that is true?Amy Barr Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 19, 2010 Report Share Posted May 19, 2010 Thank you, that's a massive help! I've had a look at the website you gave and it's really helpful. I'm going to go and see my GP to get a referral. Is that how you go about it? Imy, Lancashire > > Hi Imy > > Welcome to the group. I think there are more than 800 members . many of > whom have several family members with BPES. > > As I am sure you can see from the posts there are lots of people with Type > 1. However, because it is a sensitive issue, you'll find that some people > prefer to discuss this topic privately rather than on the bulletin board. > > I have been a member of this group for many years, and previous to that, > part of a network (which started in the mid 1990s). I've met probably about > 50 other members throughout the years, and I have spoken and corresponded to > quite a few. So perhaps I can try to answer some of your questions. > > For many people " finding out the type " has been accidental or in passing. > Some only found out by internet search, or joining this group, then > subsequently following up on a hunch by contacting their doctor or genetics > doctor. Other's have been told the information by a genetic counsellor, > from the outset, perhaps because the counsellor collected information about > other family members. Some have had tests on their hormones (in much the > same way that a person who is seeking assisted fertility goes about > investigating their health). And a few have had a genetics test. So, it is > hard to say. > > > > Please will one of the medics who are a member of this group answer your > question about the tests? This is not an area that I have a lot of > knowledge. > > > > Having said that . I think . but I am not sure .that the following is > approximately right: > > > > If you are a woman of child bearing age, it is possible to determine your > type doing an easy blood test. This test looks for things in your blood (you > can see I'm not a medic, because I said " things " ). > > > > Any woman can have a genetics test done. There are very few places that > offer the test (you have to send away samples), and they carry out tests. I > am not sure if they can be absolutely certain to give you an answer. > > > > Lastly - I have read that rather than there be two types, it is more a case > of " some have normal fertility " , and " some have either less fertility or are > fertile for few years " . > > AGAIN - please can people who are medics correct me? > > > > I think it would be a really good idea if you try to see a genetic doctor. > Where do you live? Perhaps people could put you in touch with the person who > they saw. > > Also - you make like to look at this link: > > http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene > <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=bpes> > & part=bpes > > it is written by possibly the leading authority on BPES, and it is regularly > updated. The doctor who wrote the article works at a lab in Belgium who > offer the genetics tests. > > Also - it does refer to the tests. I am sure that if you sent this to your > GP or a medic friend, they could go thru it with you, and explain the > relevant parts. Failing that - use the internet to look up the medical > terms. > > > > I can let you have a list of places in the USA who carry out the tests. > > Take care > > Shireen Mohandes > > London, England > > > > From: blepharophimosis > [mailto:blepharophimosis ] On Behalf Of imogenheffernan > Sent: 17 May 2010 20:09 > blepharophimosis > Subject: blepharophimosis Types of BPES > > > > > > Hi, > > I have BPES and just joined the site. I was wondering if anyone has BPES > type 1 (primary ovarian failure) and how you found out? Is there a genetic > test you can have to find out which type you have? > Thank you! > > Imy > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 19, 2010 Report Share Posted May 19, 2010 Oh thankyou, I think I'm going to have a look at some later posts and see what I can find! Good luck, hope your tests go well. Imy, Lancashire --- In blepharophimosis , " hurleypamela11 " <hurleypamela11@...> wrote: > > Hi Imy, > > Welcome!!!My name is Pam and only joined this group last month. I don't know what the test is called, I'm currently waiting to meet a genetic consultant myself!However, there are loads of other members who have helped me so far and they are Type 1. I hope you will get your answers > > Pam, Ireland > > --- In blepharophimosis , " imogenheffernan " <imogenheffernan@> wrote: > > > > Hi, > > > > I have BPES and just joined the site. I was wondering if anyone has BPES type 1 (primary ovarian failure) and how you found out? Is there a genetic test you can have to find out which type you have? > > Thank you! > > > > Imy > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 20, 2010 Report Share Posted May 20, 2010 Hi Imy Ask your GP to refer you to Dr Oley. I think she works out of two places in central / north England. She is one of the experts, and a really lovely person. I met her 21 years ago, when she worked at Great Ormond Street. I went there as an adult to the genetics clinic. Hope that helps Take care Shireen London, England From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of imogenheffernan Sent: 19 May 2010 22:44 blepharophimosis Subject: blepharophimosis Re: Types of BPES Thank you, that's a massive help! I've had a look at the website you gave and it's really helpful. I'm going to go and see my GP to get a referral. Is that how you go about it? Imy, Lancashire > > Hi Imy > > Welcome to the group. I think there are more than 800 members . many of > whom have several family members with BPES. > > As I am sure you can see from the posts there are lots of people with Type > 1. However, because it is a sensitive issue, you'll find that some people > prefer to discuss this topic privately rather than on the bulletin board. > > I have been a member of this group for many years, and previous to that, > part of a network (which started in the mid 1990s). I've met probably about > 50 other members throughout the years, and I have spoken and corresponded to > quite a few. So perhaps I can try to answer some of your questions. > > For many people " finding out the type " has been accidental or in passing. > Some only found out by internet search, or joining this group, then > subsequently following up on a hunch by contacting their doctor or genetics > doctor. Other's have been told the information by a genetic counsellor, > from the outset, perhaps because the counsellor collected information about > other family members. Some have had tests on their hormones (in much the > same way that a person who is seeking assisted fertility goes about > investigating their health). And a few have had a genetics test. So, it is > hard to say. > > > > Please will one of the medics who are a member of this group answer your > question about the tests? This is not an area that I have a lot of > knowledge. > > > > Having said that . I think . but I am not sure .that the following is > approximately right: > > > > If you are a woman of child bearing age, it is possible to determine your > type doing an easy blood test. This test looks for things in your blood (you > can see I'm not a medic, because I said " things " ). > > > > Any woman can have a genetics test done. There are very few places that > offer the test (you have to send away samples), and they carry out tests. I > am not sure if they can be absolutely certain to give you an answer. > > > > Lastly - I have read that rather than there be two types, it is more a case > of " some have normal fertility " , and " some have either less fertility or are > fertile for few years " . > > AGAIN - please can people who are medics correct me? > > > > I think it would be a really good idea if you try to see a genetic doctor. > Where do you live? Perhaps people could put you in touch with the person who > they saw. > > Also - you make like to look at this link: > > http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene > <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=bpes> > & part=bpes > > it is written by possibly the leading authority on BPES, and it is regularly > updated. The doctor who wrote the article works at a lab in Belgium who > offer the genetics tests. > > Also - it does refer to the tests. I am sure that if you sent this to your > GP or a medic friend, they could go thru it with you, and explain the > relevant parts. Failing that - use the internet to look up the medical > terms. > > I can let you have a list of places in the USA who carry out the tests. > > Take care > > Shireen Mohandes > > London, England > > > > From: blepharophimosis > [mailto:blepharophimosis ] On Behalf Of imogenheffernan > Sent: 17 May 2010 20:09 > blepharophimosis > Subject: blepharophimosis Types of BPES > Hi, > > I have BPES and just joined the site. I was wondering if anyone has BPES > type 1 (primary ovarian failure) and how you found out? Is there a genetic > test you can have to find out which type you have? > Thank you! > > Imy > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 22, 2010 Report Share Posted May 22, 2010 Hi Imy Dr Oley is a geneticist with an interest in BPES. She works in the West Midlands and Shropshire. Birmingham Womans Hospital will definitely be able to inform you where she is based, in fact she may be there. She is very approachable and will see you with a GP referral. Best of luck Regards Colchester (UK) > > > > Hi Imy > > > > Welcome to the group. I think there are more than 800 members . many of > > whom have several family members with BPES. > > > > As I am sure you can see from the posts there are lots of people with Type > > 1. However, because it is a sensitive issue, you'll find that some people > > prefer to discuss this topic privately rather than on the bulletin board. > > > > I have been a member of this group for many years, and previous to that, > > part of a network (which started in the mid 1990s). I've met probably > about > > 50 other members throughout the years, and I have spoken and corresponded > to > > quite a few. So perhaps I can try to answer some of your questions. > > > > For many people " finding out the type " has been accidental or in passing. > > Some only found out by internet search, or joining this group, then > > subsequently following up on a hunch by contacting their doctor or > genetics > > doctor. Other's have been told the information by a genetic counsellor, > > from the outset, perhaps because the counsellor collected information > about > > other family members. Some have had tests on their hormones (in much the > > same way that a person who is seeking assisted fertility goes about > > investigating their health). And a few have had a genetics test. So, it is > > hard to say. > > > > > > > > Please will one of the medics who are a member of this group answer your > > question about the tests? This is not an area that I have a lot of > > knowledge. > > > > > > > > Having said that . I think . but I am not sure .that the following is > > approximately right: > > > > > > > > If you are a woman of child bearing age, it is possible to determine your > > type doing an easy blood test. This test looks for things in your blood > (you > > can see I'm not a medic, because I said " things " ). > > > > > > > > Any woman can have a genetics test done. There are very few places that > > offer the test (you have to send away samples), and they carry out tests. > I > > am not sure if they can be absolutely certain to give you an answer. > > > > > > > > Lastly - I have read that rather than there be two types, it is more a > case > > of " some have normal fertility " , and " some have either less fertility or > are > > fertile for few years " . > > > > AGAIN - please can people who are medics correct me? > > > > > > > > I think it would be a really good idea if you try to see a genetic doctor. > > Where do you live? Perhaps people could put you in touch with the person > who > > they saw. > > > > Also - you make like to look at this link: > > > > http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene > > <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene > <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=bpes> > & part=bpes> > > & part=bpes > > > > it is written by possibly the leading authority on BPES, and it is > regularly > > updated. The doctor who wrote the article works at a lab in Belgium who > > offer the genetics tests. > > > > Also - it does refer to the tests. I am sure that if you sent this to your > > GP or a medic friend, they could go thru it with you, and explain the > > relevant parts. Failing that - use the internet to look up the medical > > terms. > > > > I can let you have a list of places in the USA who carry out the tests. > > > > Take care > > > > Shireen Mohandes > > > > London, England > > > > > > > > From: blepharophimosis > <mailto:blepharophimosis%40> > > [mailto:blepharophimosis > <mailto:blepharophimosis%40> ] On Behalf Of imogenheffernan > > Sent: 17 May 2010 20:09 > > blepharophimosis > <mailto:blepharophimosis%40> > > Subject: blepharophimosis Types of BPES > > Hi, > > > > I have BPES and just joined the site. I was wondering if anyone has BPES > > type 1 (primary ovarian failure) and how you found out? Is there a genetic > > test you can have to find out which type you have? > > Thank you! > > > > Imy > > > Quote Link to comment Share on other sites More sharing options...
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