Guest guest Posted March 12, 2009 Report Share Posted March 12, 2009 Welcome Kasia, I'm glad you've found a spot that will help you get answers. I'm sorry it took so long to find it. We have a son with BPES so I can't help you as well with the fertility issues as others who have actually dealt with that issue. I'm sure you will get plenty of help from the group! Best wishes! From: kasiab1981 <kasiab1981@...>Subject: blepharophimosis Hallo Everybody blepharophimosis Date: Wednesday, March 11, 2009, 6:18 PM Hello Everybody, I'm new here. Let me introduce myself and my short story. I'm Kasia, I'm 28 and I'm from Poland, but living in Ireland. Since I can remember, I knew my eyes were different from all other children at school and so on... I've noticed it quite early, as polish people weren't very tolerant of any otherness' (it changed a little bit nowadays), they gave me quite a hard time... My parents told me, that I had two surgeries when I was small (3 & 4), because my eyes were so small... However they never mentioned to me, how this disorder is called. I even think, they don't really know, as this is a really rare disorder. When I was a teen, I started to look for more information about it, but on this stage of my life my English was too poor to search on te internet and in Poland there was no information about this disorder and I only found some information about Ptosis and assumed that's it, even if I told this doesn't exactly match my symptoms. And I left it for quite a while... But because I'm getting married soon and we're thinking about having children I started to search again for information about it and what I finally found - just devastated me - I have the full symptoms of BPES, I'm not sure as yet of which type, but judging from my rare periods - probably type 1. This is absolutely shocking for me - to discover all this things just by accident... There was not enough information about this disease in Poland, so I don't blame doctors, they just didn't know and didn't look for answers... I have a brother and a sister. She has the same problems... And we've got it from our daddy... However nobody knows where he has it from...I would like to ask you for advice, where to start? To what kind of doctor should I go first, to confirm the diagnosis and to check which type of BPES I have. I would like to know, how many of you (I'm referring here to girls as I already found out this doesn't affect men) have BPES and became parents? And was it difficult to get there? Are your children affected?It's a great feeling - after all those years – to finally find out, that there are more people like me... Yours Kasia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 12, 2009 Report Share Posted March 12, 2009 Hi Kasia Welcome to the group. My name is Joyce unaffected mother of Mayowa and Tina. The advice given by is excellent. Do see your GP. Arm yourself with questions. Find these questions on the BPES Family network page. In addition take as much photos and info you find on the web to your doctor. I had to do this to get the ball rolling for my 2 daughters both affected by this condition. (passed on by their dad.) The condition is relatively rare therefore my GP did not have a clue but was able to look things up once I showed him some factual info I downloaded. Hope this helps as well. Joyce (London) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 12, 2009 Report Share Posted March 12, 2009 Hello Kasia, People who have BPES and have children have a 50% chance of their children also getting BPES. I am 44 yrs old and I am the first in my family to get it. I have one child, a son, who will be 20 next month and he also has BPES. To find out which type you are I suggest you go to your family doctor and get him to refer you to a genetic counsellor. That is what I did here in Canada. The genetic counsellor then took a blood sample and had it sent to Belgium. As far as I know the only place in the world doing the testing is Belgium. Hope this helps, Ontario, Canada From: kasiab1981 <kasiab1981@...>blepharophimosis Sent: Wednesday, March 11, 2009 6:18:49 PMSubject: blepharophimosis Hallo Everybody Hello Everybody, I'm new here. Let me introduce myself and my short story. I'm Kasia, I'm 28 and I'm from Poland, but living in Ireland. Since I can remember, I knew my eyes were different from all other children at school and so on... I've noticed it quite early, as polish people weren't very tolerant of any otherness' (it changed a little bit nowadays), they gave me quite a hard time... My parents told me, that I had two surgeries when I was small (3 & 4), because my eyes were so small... However they never mentioned to me, how this disorder is called. I even think, they don't really know, as this is a really rare disorder. When I was a teen, I started to look for more information about it, but on this stage of my life my English was too poor to search on te internet and in Poland there was no information about this disorder and I only found some information about Ptosis and assumed that's it, even if I told this doesn't exactly match my symptoms. And I left it for quite a while... But because I'm getting married soon and we're thinking about having children I started to search again for information about it and what I finally found - just devastated me - I have the full symptoms of BPES, I'm not sure as yet of which type, but judging from my rare periods - probably type 1. This is absolutely shocking for me - to discover all this things just by accident... There was not enough information about this disease in Poland, so I don't blame doctors, they just didn't know and didn't look for answers... I have a brother and a sister. She has the same problems... And we've got it from our daddy... However nobody knows where he has it from...I would like to ask you for advice, where to start? To what kind of doctor should I go first, to confirm the diagnosis and to check which type of BPES I have. I would like to know, how many of you (I'm referring here to girls as I already found out this doesn't affect men) have BPES and became parents? And was it difficult to get there? Are your children affected?It's a great feeling - after all those years – to finally find out, that there are more people like me... Yours Kasia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 27, 2009 Report Share Posted March 27, 2009 - Hello Kasia, Congrats on your wedding! BPES does effect men and women. My son who is 7 has BPES. We started our journey off visiting an eye specialist who diagnosed BPES. Then we saw a Genetesist. He was able to decide which type my son had and what areas of his development that may be effected. He also told us that he would need to have genetic councelling before having children. His children have a 50% chance of having BPES. I do not have BPES. My sons father does not have BPES. They say that it is a mutated gene! Maybe the same happened with your father. I hope you are able to concieve, however you should see a Genetic doctor before trying. This doctor may be able to help! -- In blepharophimosis , " kasiab1981 " <kasiab1981@...> wrote: > > Hello Everybody, > > I'm new here. Let me introduce myself and my short story. I'm Kasia, I'm 28 and I'm from Poland, but living in Ireland. > > Since I can remember, I knew my eyes were different from all other children at school and so on... I've noticed it quite early, as polish people weren't very tolerant of any otherness' (it changed a little bit nowadays), they gave me quite a hard time... My parents told me, that I had two surgeries when I was small (3 & 4), because my eyes were so small... However they never mentioned to me, how this disorder is called. I even think, they don't really know, as this is a really rare disorder. When I was a teen, I started to look for more information about it, but on this stage of my life my English was too poor to search on te internet and in Poland there was no information about this disorder and I only found some information about Ptosis and assumed that's it, even if I told this doesn't exactly match my symptoms. And I left it for quite a while... But because I'm getting married soon and we're thinking about having children I started to search again for information about it and what I finally found - just devastated me - I have the full symptoms of BPES, I'm not sure as yet of which type, but judging from my rare periods - probably type 1. This is absolutely shocking for me - to discover all this things just by accident... There was not enough information about this disease in Poland, so I don't blame doctors, they just didn't know and didn't look for answers... > > I have a brother and a sister. She has the same problems... And we've got it from our daddy... However nobody knows where he has it from... > > I would like to ask you for advice, where to start? To what kind of doctor should I go first, to confirm the diagnosis and to check which type of BPES I have. > > I would like to know, how many of you (I'm referring here to girls as I already found out this doesn't affect men) have BPES and became parents? And was it difficult to get there? Are your children affected? > > It's a great feeling - after all those years – to finally find out, that there are more people like me... > > Yours Kasia > Quote Link to comment Share on other sites More sharing options...
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