Guest guest Posted March 8, 2007 Report Share Posted March 8, 2007 tailynn 4yrs and i have no idea what she either.....? wondering from other does it matter... or not? heather061784 <hbarga@...> wrote: Hello,I have a daughter that is 6 months old and i want to find out if she has type 1 or type 2 BLEPH but i am uncertain of what the test is called that she needs and when i talked to her dr today he was unsure of what test to order to find out because she is his only patient with this condition so if anyone out there knows the name of the test she needs to find out what type she has please let me know. Thank you in advance Ohio Never miss an email again! Toolbar alerts you the instant new Mail arrives. Check it out. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2007 Report Share Posted March 8, 2007 Hi There, My name is and I live in Ontario, Canada. As far as I know the ONLY place in the world that does the testing is Belgium. I went to a genetic counselor here in Ontario who ordered the test for me. They took my blood and it was sent to Belgium. It took about a year for the results. Here in Canada we are covered medically by our provincial government's health insurance plan and they covered the costs. I am not sure in the USA who would pay...whether it is you or if you have insurance and they would cover? The address and names of the doctors in Belgium have been posted here before, I would have to dig through my papers to find the names, but I am sure when Shireen reads this she will resend the info. I personally feel it is good to know in advance for your girls...so you can be prepared for the future. Restoule, Ontario, CanadaDAWN-MARIE ANDERSON <tailynn03@...> wrote: tailynn 4yrs and i have no idea what she either.....? wondering from other does it matter... or not? heather061784 <hbargajuno> wrote: Hello,I have a daughter that is 6 months old and i want to find out if she has type 1 or type 2 BLEPH but i am uncertain of what the test is called that she needs and when i talked to her dr today he was unsure of what test to order to find out because she is his only patient with this condition so if anyone out there knows the name of the test she needs to find out what type she has please let me know. Thank you in advance Ohio Never miss an email again! Toolbar alerts you the instant new Mail arrives. Check it out. Now that's room service! Choose from over 150,000 hotels in 45,000 destinations on Travel to find your fit. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2007 Report Share Posted March 8, 2007 Its does matter for little girls if a girl has Type 1 then she will get POF which from my understanding like they hit mentopaus early and have fertility problems and in some cases they are unable to have children ________________________________________________________________________ FREE Reminder Service - NEW from AmericanGreetings.com Click HERE and never forget a Birthday or Anniversary again! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2007 Report Share Posted March 8, 2007 Hi, My daughter is 13 and was just diagnosed with Bleph. Her blood was sent to Begium. The test results didn't state what type she has. We are in the process of seeing an endocrinologist to check her hormone levels. New Hampshire --- In blepharophimosis , " hbarga@... " <hbarga@...> wrote: > > Its does matter for little girls if a girl has Type 1 then she will get POF which from my understanding like they hit mentopaus early and have fertility problems and in some cases they are unable to have children > > > > > ________________________________________________________________________ > FREE Reminder Service - NEW from AmericanGreetings.com > Click HERE and never forget a Birthday or Anniversary again! > http://track.juno.com/s/lc? s=197335 & u=http://www.americangreetings.com/products/online_calendar.pd? c=uol5752 > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2007 Report Share Posted March 8, 2007 , Has your 13 year old daughter started her period? I know this is a weird question. I have type 1 BPES, I only know this because I'm 30 and have POF. The reason I ask is because I personally didn't get my period until I was almost 17 years old. It was very heavy for a year or so then it started to only come every few months and it was lighter and lighter to where I was just spotting for a day or two every few months. It is a very, very, very good thing to know about. Even if you don't know for sure now you can somewhat be prepared for what may come. I had no clue that it was linked to BPES until about 2 years ago when Dr Sutula out of Boston told me that it was. Anyways what happened to me was my husband and I dated for 3 years. Got married in 2000, and deceided that children should come soon. From the day we got married we never used birth control. About 6 months into our marriage not only was I not pregnant but I also was having all the symptoms of menopause. I had trouble sleeping, night sweats, hot flashes and my mood and emotions were all messed up. I would go from wanting to rip someone's head off to crying the next and didn't know why. There are other female symptoms that aren't very pleasent to deal with too (just look up info on menopause if you want to know what I'm talking about). So all of this on top of not getting pregnant. I went to many different doctors who told me that I was crazy. No one could believe that I was going through Menopause so early. At this point I was only 23 years old. This is why I say that you guys are at least lucky that you know about POF being linked to BPES. So that if your daughters start to experience anything like this than you will know and can tell the doctors that it is linked. My doctors didn't know and neither did I. I got so sick of being told that I was making it up for attention that I pretty much stopped going to the doctor. Finally after dealing with this for many years and still no pregnancy I went to a obgyn who too couldn't figure it out. He sent me to and infertility and endroconologist specialist. They did a bunch of tests including blood work. One month later they had the results. I had antibodies against my ovaries. In short I had POF. So I don't know if these antibodies are present in your little girls yet or if they have to wait until they are already having the POF. Also I've said it before and I'll say it again. It is very, very important that all of you with daughters who have BPES be sure tha tthey are getting plenty of calcium and vitamin D now to help build storng bones and teeth. And as soon as you think that they might be showing symptom's of POF get them in to get checked don't wait. Because it took so long for me to be treated for the POF I now too have Osteoporosis!!! I'm only 30!!! I am on hormone replacement now to help fend off further bone loss. You should talk to their doctor in early teen years to see about getting a DEXA scan (bone scan) to establish their bone density. This is suppose to be done every 2 years. Then in 2 years there is bone loss then you know that they most likely have POF too and will want to get on some HRT (hormone replacement therapy). So as someone who has BPES and POF send me your questions if you have any others that I might be able to help you with. chrissyj30 <c.jameson@...> wrote: Hi,My daughter is 13 and was just diagnosed with Bleph. Her blood was sent to Begium. The test results didn't state what type she has. We are in the process of seeing an endocrinologist to check her hormone levels. New Hampshire>> Its does matter for little girls if a girl has Type 1 then she will get POF which from my understanding like they hit mentopaus early and have fertility problems and in some cases they are unable to have children > > > > > __________________________________________________________> FREE Reminder Service - NEW from AmericanGreetings.com> Click HERE and never forget a Birthday or Anniversary again!> http://track.juno.com/s/lc?s=197335 & u=http://www.americangreetings.com/products/online_calendar.pd?c=uol5752> Don't get soaked. Take a quick peek at the forecast with the Search weather shortcut. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2007 Report Share Posted March 8, 2007 Hi Everyone, I wanted to mention that I have POF, and have just failed a climid challenge test, and on Monday we were told that our only hope is egg donation. I am so devastated, and am finding it difficult to come to terms with. I feel so cheated that I didn't know the link with BPES and POF until it was too late. My infertility clinic know nothing about BPES and I'm now considering egg donaiton, but am not sure if it will work for us. Does anyone know if those of us with POF can still carry a child, or does this syndrome prevent us from doing that as well? If anyone knows of anyone who had a successful pregnancy following egg donation, then I would love to hear about it. I really need some hope, but please if anyone knows that we can't carry a child, then please don't put off telling me as I need facts too, before we fork out thousands of pounds on further treatment, thanks, Abbie Re: blepharophimosis Re: Type 1 or Type2 ? , Has your 13 year old daughter started her period? I know this is a weird question. I have type 1 BPES, I only know this because I'm 30 and have POF. The reason I ask is because I personally didn't get my period until I was almost 17 years old. It was very heavy for a year or so then it started to only come every few months and it was lighter and lighter to where I was just spotting for a day or two every few months. It is a very, very, very good thing to know about. Even if you don't know for sure now you can somewhat be prepared for what may come. I had no clue that it was linked to BPES until about 2 years ago when Dr Sutula out of Boston told me that it was. Anyways what happened to me was my husband and I dated for 3 years. Got married in 2000, and deceided that children should come soon. From the day we got married we never used birth control. About 6 months into our marriage not only was I not pregnant but I also was having all the symptoms of menopause. I had trouble sleeping, night sweats, hot flashes and my mood and emotions were all messed up. I would go from wanting to rip someone's head off to crying the next and didn't know why. There are other female symptoms that aren't very pleasent to deal with too (just look up info on menopause if you want to know what I'm talking about). So all of this on top of not getting pregnant. I went to many different doctors who told me that I was crazy. No one could believe that I was going through Menopause so early. At this point I was only 23 years old. This is why I say that you guys are at least lucky that you know about POF being linked to BPES. So that if your daughters start to experience anything like this than you will know and can tell the doctors that it is linked. My doctors didn't know and neither did I. I got so sick of being told that I was making it up for attention that I pretty much stopped going to the doctor. Finally after dealing with this for many years and still no pregnancy I went to a obgyn who too couldn't figure it out. He sent me to and infertility and endroconologist specialist. They did a bunch of tests including blood work. One month later they had the results. I had antibodies against my ovaries. In short I had POF. So I don't know if these antibodies are present in your little girls yet or if they have to wait until they are already having the POF. Also I've said it before and I'll say it again. It is very, very important that all of you with daughters who have BPES be sure tha tthey are getting plenty of calcium and vitamin D now to help build storng bones and teeth. And as soon as you think that they might be showing symptom's of POF get them in to get checked don't wait. Because it took so long for me to be treated for the POF I now too have Osteoporosis! !! I'm only 30!!! I am on hormone replacement now to help fend off further bone loss. You should talk to their doctor in early teen years to see about getting a DEXA scan (bone scan) to establish their bone density. This is suppose to be done every 2 years. Then in 2 years there is bone loss then you know that they most likely have POF too and will want to get on some HRT (hormone replacement therapy). So as someone who has BPES and POF send me your questions if you have any others that I might be able to help you with. chrissyj30 <c.jamesonverizon (DOT) net> wrote: Hi,My daughter is 13 and was just diagnosed with Bleph. Her blood was sent to Begium. The test results didn't state what type she has. We are in the process of seeing an endocrinologist to check her hormone levels. New Hampshire>> Its does matter for little girls if a girl has Type 1 then she will get POF which from my understanding like they hit mentopaus early and have fertility problems and in some cases they are unable to have children > > > > > ____________ _________ _________ _________ _________ _________ _> FREE Reminder Service - NEW from AmericanGreetings. com> Click HERE and never forget a Birthday or Anniversary again!> http://track. juno.com/ s/lc?s=197335 & u=http://www.american greetings. com/products/ online_calendar. pd?c=uol5752> Don't get soaked. Take a quick peek at the forecast with the Search weather shortcut. New is the ultimate force in competitive emailing. Find out more at the Championships. Plus: play games and win prizes. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 8, 2007 Report Share Posted March 8, 2007 Hi Abbie The best person to direct this question to is your doctor. However, I can tell you that when I asked this same question to my doctor I was told that all the indications suggested that I would be able to carry a child to full term. I hope that you are able to be referred to a good geneticist who would be able to help you out with these types of questions. My I recommend that you try to get referred to Dr Oley in Birmingham. Take care Shireen London, England From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of abbie gogartySent: 08 March 2007 12:20blepharophimosis Subject: Re: blepharophimosis Re: Type 1 or Type2 ? Hi Everyone, I wanted to mention that I have POF, and have just failed a climid challenge test, and on Monday we were told that our only hope is egg donation. I am so devastated, and am finding it difficult to come to terms with. I feel so cheated that I didn't know the link with BPES and POF until it was too late. My infertility clinic know nothing about BPES and I'm now considering egg donaiton, but am not sure if it will work for us. Does anyone know if those of us with POF can still carry a child, or does this syndrome prevent us from doing that as well? If anyone knows of anyone who had a successful pregnancy following egg donation, then I would love to hear about it. I really need some hope, but please if anyone knows that we can't carry a child, then please don't put off telling me as I need facts too, before we fork out thousands of pounds on further treatment, thanks, Abbie .. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 18, 2007 Report Share Posted March 18, 2007 Hi, i'm a 17 year old Germany. My English is not the best, but i hope you will understand what i say. A few month ago the specialists in Belgium found out that i have BPES, but they couldn't say what type i have. They said that i should talk to the genetic specialists in Heidelberg to find out more about that disease. Unfortunately they couldn't give me new information. So i decided to search on my own for information and i came across this group. I started to read some posts. When i read a post of Gunter i noticed that a lot of what she said is the same like me. So, now i'm quite sure that i have POF. About that i have some questions: Can i have a baby later? Do i already have the menopause? Are there more effects? I would be very happy if you can help me Nici Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 18, 2007 Report Share Posted March 18, 2007 Hi Nici Welcome to the group. May I recommend that you take a look here: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html However, I think that you will need some help in understanding it. Perhaps one approach would be to send this article to your geneticist and then make an appointment with them, and say that you want them to explain it to you. Also, you may find it useful to read post from Jeroen, I will forward it to the group. It is pretty easy to understand. Jeroen is in the medical profession, so it is nice to have the benefit of his advice and explanation. One thing is pretty important to understand, we are all different in our own way, and there is no substitute for good professional medical advice. Hopefully reading the information here will help you to work out what questions to ask your doctor. I am not medically trained, so I don't want to give any advice. However, it is pretty commonly known that a simple blood test will reveal if you are likely to have POF. This can be arranged by your doctor. Please keep in touch, and once again, welcome Take care Shireen Mohandes London, England (I am female, 26 years old, and the only person in my family with BPES) From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of Nicola FujaraSent: 18 March 2007 16:14blepharophimosis Subject: blepharophimosis Re: Type 1 or Type2 ? Hi,i'm a 17 year old Germany. My English is not the best, but i hope youwill understand what i say.A few month ago the specialists in Belgium found out that i have BPES,but they couldn't say what type i have.They said that i should talk to the genetic specialists in Heidelbergto find out more about that disease. Unfortunately they couldn't giveme new information. So i decided to search on my own for informationand i came across this group. I started to read some posts. When iread a post of Gunter i noticed that a lot of what she said isthe same like me. So, now i'm quite sure that i have POF.About that i have some questions:Can i have a baby later?Do i already have the menopause?Are there more effects?I would be very happy if you can help me :)Nici Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 18, 2007 Report Share Posted March 18, 2007 Hi Nici Welcome to the group. May I recommend that you take a look here: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html However, I think that you will need some help in understanding it. Perhaps one approach would be to send this article to your geneticist and then make an appointment with them, and say that you want them to explain it to you. Also, you may find it useful to read post from Jeroen, I will forward it to the group. It is pretty easy to understand. Jeroen is in the medical profession, so it is nice to have the benefit of his advice and explanation. One thing is pretty important to understand, we are all different in our own way, and there is no substitute for good professional medical advice. Hopefully reading the information here will help you to work out what questions to ask your doctor. I am not medically trained, so I don't want to give any advice. However, it is pretty commonly known that a simple blood test will reveal if you are likely to have POF. This can be arranged by your doctor. Please keep in touch, and once again, welcome Take care Shireen Mohandes London, England (I am female, 26 years old, and the only person in my family with BPES) From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of Nicola FujaraSent: 18 March 2007 16:14blepharophimosis Subject: blepharophimosis Re: Type 1 or Type2 ? Hi,i'm a 17 year old Germany. My English is not the best, but i hope youwill understand what i say.A few month ago the specialists in Belgium found out that i have BPES,but they couldn't say what type i have.They said that i should talk to the genetic specialists in Heidelbergto find out more about that disease. Unfortunately they couldn't giveme new information. So i decided to search on my own for informationand i came across this group. I started to read some posts. When iread a post of Gunter i noticed that a lot of what she said isthe same like me. So, now i'm quite sure that i have POF.About that i have some questions:Can i have a baby later?Do i already have the menopause?Are there more effects?I would be very happy if you can help me :)Nici Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 20, 2007 Report Share Posted March 20, 2007 Hi Shireen, thank you very much for your help Today i have a appointment with the gynaecologist, and now i think i have enough information to tell him what's going on with me. Nici > > Hi Nici > Welcome to the group. > May I recommend that you take a look here: > http://www.geneclinics.org/servlet/access?db=geneclinics > <http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 > & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html> > & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/ > bpes/index.html > However, I think that you will need some help in understanding it. Perhaps > one approach would be to send this article to your geneticist and then make > an appointment with them, and say that you want them to explain it to you. > > Also, you may find it useful to read post from Jeroen, I will forward it to > the group. It is pretty easy to understand. > Jeroen is in the medical profession, so it is nice to have the benefit of > his advice and explanation. > One thing is pretty important to understand, we are all different in our own > way, and there is no substitute for good professional medical advice. > Hopefully reading the information here will help you to work out what > questions to ask your doctor. > > I am not medically trained, so I don't want to give any advice. However, it > is pretty commonly known that a simple blood test will reveal if you are > likely to have POF. This can be arranged by your doctor. > > Please keep in touch, and once again, welcome > Take care > Shireen Mohandes > London, England > > (I am female, 26 years old, and the only person in my family with BPES) > > > _____ > > From: blepharophimosis > [mailto:blepharophimosis ] On Behalf Of Nicola Fujara > Sent: 18 March 2007 16:14 > blepharophimosis > Subject: blepharophimosis Re: Type 1 or Type2 ? > > > > Hi, > > i'm a 17 year old Germany. My English is not the best, but i hope you > will understand what i say. > A few month ago the specialists in Belgium found out that i have BPES, > but they couldn't say what type i have. > They said that i should talk to the genetic specialists in Heidelberg > to find out more about that disease. Unfortunately they couldn't give > me new information. So i decided to search on my own for information > and i came across this group. I started to read some posts. When i > read a post of Gunter i noticed that a lot of what she said is > the same like me. So, now i'm quite sure that i have POF. > About that i have some questions: > Can i have a baby later? > Do i already have the menopause? > Are there more effects? > I would be very happy if you can help me > > Nici > Quote Link to comment Share on other sites More sharing options...
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