Guest guest Posted February 21, 2005 Report Share Posted February 21, 2005 Hi Leanne I have BPES, my mother and father and older sister dont. I have passed it to my daughter but not my son. When I was diagnosed many years ago, and with all the advice I have been given since, I understand that there is a 50/50 chance of passing the gene to a boy or a girl. My daughter has that chance of passing it to her own children, but by son cannot pass it genetically, as he does not carry the gene. My own case (which sounds similar to your situation) is that it was a sparadic case, a one off and as it cannot skip generations and not be passed on unless you have the gene, my mother and father would not have passed it to me, it was just one of those things. My research has come from Genetic councelling at Great Ormand Street childrens hospital in London and Mr Collin at Moorfields Eye Hospital (who operated on me 24 yrs ago and then my daughter 5 years ago). I hope this helps a little. Regards Clare Tonikka and <lyndenhunter@...> wrote: hi there leanne, i know this post was meant for liz and she will probably reply with the same answers, but...i was wondering though who told you that your first son will have a 50 50 chance of passing bpes........seeing you said he does not have bpes?? the reason i ask is that bpes is an autosomal dominant gene and the only way to pass it on to offspring is to actually have it (bpes). for example if your second son (with bpes) has children and they do not have it(bpes)( since he actually has it he does have a 50 50 chance of passing it) then the bpes stops there, because it is a dominant gene you cannot be a carrier and not have the features you either have bpes or you don't (it is not recessive) sorry to intrude on your questions to liz but i saw your post and was curious, and wanted to find out some things, Tonikka blepharophimosis Re: Will my next baby have BPES? > > Donna, Before answering your question, I will quickly explain my history with BPES. My husband was diagnosed 32 years ago, after many referrals, with congenital pstosis. When we decided to have a baby we were assured that this was not a heriditary condition. Upon the birth of my beautiful, bright and wonderful son it became apparent that he had inherited his father's "condition". Four weeks after my son's birth he was diagnosed with BPES. We are so thankful that our son has been correctly diagnosed as the genetic clinic have been so helpful and have done so much for us. Basically, we have a 50/50 chance of having a baby with BPES. However, as my husband's brother does not have the condition it will not be carried (as has not been) to his children. I would advise to take the time to talk to geneticist. I am not getting any younger myself, but believe that their expertise, experience and intelligence is worth the wait even though appointments may not be frequent. Our geneticist and his cousellor are amazing. My husband undertook the testing to see whether or not they could identify the "mutated" gene. There was only a 50/50 chance of finding the gene, but they did find the "mutated" gene. With this knowledge we are enabled with more of an ability to make decisions in the future. On a further point to other persons who may read this message, please respect your doctors and specialists as they have many years of experience and study. The condition is vary rare, and even though they may appear uncaring it is because they have no experience and are interested in the condition. For example, I took my son to emergency as he was very ill with vomiting. The doctor, for a moment, was fascinated with my son's eye condition as he had never seen it - as had no-one in ever my town of 40,000 people. Good luck in the future. Liz Hi all, > I haven't posted much here but when I have, I just get overwhelmed > with the response - it has helped so much since Halle's diagnosis of > bleph in November. Halle is now 10mos old and doing wonderfully! > > My question is not directly related to Halle this time. I've always > wanted to have 4 children...just something I've told people even when > I was a little girl. My son is now 9, my daughter is 6 and Halle is > 10mos. Halle was the first to have bleph - in our family, and in > this province! > > So my question is this....does this mean that either myself or my > husband now carry this gene permanently? Or was it a one time thing? > I know that Halle has this and will have 50-50 chance of passing it > on to her children. But what about another child that I would have? > In all honesty, it would not affect my decision one way or another > but I know it would my husbands. The geneticist we saw in November > mentioned testing on me and my husband...what are they testing for? > To see if we carry this gene? Is that something they can find out? > > I had emailed all these questions to the geneticist hoping for > answers but she merely told me that we would discuss it all at our > next appointment in April. Well, I'm not getting any younger and am > anxious to start trying. > > Any words of wisdom here? I hate not knowing the answers to these > questions !@#%$@ If any of you can help me, I would really > appreciate it!!! > > Hugs to you all! > Donna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 25, 2005 Report Share Posted February 25, 2005 Hi Tonikka, We were told this by our opthalmologist, he said because neither myself or husband have bleph but we still had a baby with bleph that he could have that 50/50 chance also (our 1st son without bpes) ? Is this not correct? We just took his word on it.....perhaps some more questions to him at my sons next visit which is in 2 weeks....please if you have any more info on this let us know....it is greatly appreciated:) Thanks...leanne and family -- blepharophimosis Re: Will my next baby have BPES? > > Donna, Before answering your question, I will quickly explain my history with BPES. My husband was diagnosed 32 years ago, after many referrals, with congenital pstosis. When we decided to have a baby we were assured that this was not a heriditary condition. Upon the birth of my beautiful, bright and wonderful son it became apparent that he had inherited his father's "condition". Four weeks after my son's birth he was diagnosed with BPES. We are so thankful that our son has been correctly diagnosed as the genetic clinic have been so helpful and have done so much for us. Basically, we have a 50/50 chance of having a baby with BPES. However, as my husband's brother does not have the condition it will not be carried (as has not been) to his children. I would advise to take the time to talk to geneticist. I am not getting any younger myself, but believe that their expertise, experience and intelligence is worth the wait even though appointments may not be frequent. Our geneticist and his cousellor are amazing. My husband undertook the testing to see whether or not they could identify the "mutated" gene. There was only a 50/50 chance of finding the gene, but they did find the "mutated" gene. With this knowledge we are enabled with more of an ability to make decisions in the future. On a further point to other persons who may read this message, please respect your doctors and specialists as they have many years of experience and study. The condition is vary rare, and even though they may appear uncaring it is because they have no experience and are interested in the condition. For example, I took my son to emergency as he was very ill with vomiting. The doctor, for a moment, was fascinated with my son's eye condition as he had never seen it - as had no-one in ever my town of 40,000 people. Good luck in the future. Liz Hi all, > I haven't posted much here but when I have, I just get overwhelmed > with the response - it has helped so much since Halle's diagnosis of > bleph in November. Halle is now 10mos old and doing wonderfully! > > My question is not directly related to Halle this time. I've always > wanted to have 4 children...just something I've told people even when > I was a little girl. My son is now 9, my daughter is 6 and Halle is > 10mos. Halle was the first to have bleph - in our family, and in > this province! > > So my question is this....does this mean that either myself or my > husband now carry this gene permanently? Or was it a one time thing? > I know that Halle has this and will have 50-50 chance of passing it > on to her children. But what about another child that I would have? > In all honesty, it would not affect my decision one way or another > but I know it would my husbands. The geneticist we saw in November > mentioned testing on me and my husband...what are they testing for? > To see if we carry this gene? Is that something they can find out? > > I had emailed all these questions to the geneticist hoping for > answers but she merely told me that we would discuss it all at our > next appointment in April. Well, I'm not getting any younger and am > anxious to start trying. > > Any words of wisdom here? I hate not knowing the answers to these > questions !@#%$@ If any of you can help me, I would really > appreciate it!!! > > Hugs to you all! > Donna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 25, 2005 Report Share Posted February 25, 2005 hey there... your child with BPES is the only one to be able to pass it on because he actually carries the gene, like I said before it is a dominant gene not a recessive so you cannot be a carrier, if you actually have BPES you can pass it on 50/50, my son was like your child and they call it a "freak glitch" sorry about the wording but that is what the geneticist called it. anyway no one in my family has it but of course if Lynden has children with it then it can start being passed down into the generations.... of course if he does not have children or have any with it then it stops at him and it is really really really unlikely to ever be seen again in the family. if that does happen then it is a first in history. anyway maybe just ask your doctor again to clarify for you the way a dominant trait works......... I too at first was confused but like I have said in earlier posts my geneticist and surgeon has seen BPES many many times and is very familiar with it.. actually when my son was diagnosed the surgeon was teaching his class about BPES at the university...he was sooooo excited it was funny..(sure eased my worries) see a recessive gene, works like this... you carry a gene but do not necessarily have a trait for what the gene is and your husband has the same gene and when you 2 have a child and the dna mixes there is a 1 in 4 chance a child could have whatever the gene is...for example if you and your husband both have brown eyes but carry a recessive gene for blue eyes then you have a 1 in 4 chance of having a blue eyed baby.. but that is getting into screwy details of genes. now with a dominant gene you either have it or you don't (the actual trait and gene) and if you don't have it you cannot carry it, that is what BPES is... and that is why people with BPES can pass it on 50 % chance because they actually have the trait.....now I am sure I totally confused you as I have myself .....ha ha anyway I hope this helps a bit. again I know the question arises always as it does to me is how did our children get the gene in the first place... when I did my genetic studies( we did this in nursing school and I made BPES my subject ) it was credited to miss reading in the DNA a glitch a transcribing error..and that is why "they" call it a freak accident (not saying our kids are freaks by any means)just the wording they use. but I will say this if I had another child with BPES I sure hope they would be as great as my son, he really is a sensitive boy and loves to tell people about his "new eyebrows" (that's what he says) I am sure having more than one child with BPES does not make you more of an expert but I think that it sure makes you appreciate life just a bit more, I know I am lucky to have a child with BPES and I would not have it any other way............... now see what I did I rambled on and I wrote a book.... talk to you soon.. Tonikka blepharophimosis Re: Will my next baby have BPES? > > Donna, Before answering your question, I will quickly explain my history with BPES. My husband was diagnosed 32 years ago, after many referrals, with congenital pstosis. When we decided to have a baby we were assured that this was not a heriditary condition. Upon the birth of my beautiful, bright and wonderful son it became apparent that he had inherited his father's "condition". Four weeks after my son's birth he was diagnosed with BPES. We are so thankful that our son has been correctly diagnosed as the genetic clinic have been so helpful and have done so much for us. Basically, we have a 50/50 chance of having a baby with BPES. However, as my husband's brother does not have the condition it will not be carried (as has not been) to his children. I would advise to take the time to talk to geneticist. I am not getting any younger myself, but believe that their expertise, experience and intelligence is worth the wait even though appointments may not be frequent. Our geneticist and his cousellor are amazing. My husband undertook the testing to see whether or not they could identify the "mutated" gene. There was only a 50/50 chance of finding the gene, but they did find the "mutated" gene. With this knowledge we are enabled with more of an ability to make decisions in the future. On a further point to other persons who may read this message, please respect your doctors and specialists as they have many years of experience and study. The condition is vary rare, and even though they may appear uncaring it is because they have no experience and are interested in the condition. For example, I took my son to emergency as he was very ill with vomiting. The doctor, for a moment, was fascinated with my son's eye condition as he had never seen it - as had no-one in ever my town of 40,000 people. Good luck in the future. Liz Hi all, > I haven't posted much here but when I have, I just get overwhelmed > with the response - it has helped so much since Halle's diagnosis of > bleph in November. Halle is now 10mos old and doing wonderfully! > > My question is not directly related to Halle this time. I've always > wanted to have 4 children...just something I've told people even when > I was a little girl. My son is now 9, my daughter is 6 and Halle is > 10mos. Halle was the first to have bleph - in our family, and in > this province! > > So my question is this....does this mean that either myself or my > husband now carry this gene permanently? Or was it a one time thing? > I know that Halle has this and will have 50-50 chance of passing it > on to her children. But what about another child that I would have? > In all honesty, it would not affect my decision one way or another > but I know it would my husbands. The geneticist we saw in November > mentioned testing on me and my husband...what are they testing for? > To see if we carry this gene? Is that something they can find out? > > I had emailed all these questions to the geneticist hoping for > answers but she merely told me that we would discuss it all at our > next appointment in April. Well, I'm not getting any younger and am > anxious to start trying. > > Any words of wisdom here? I hate not knowing the answers to these > questions !@#%$@ If any of you can help me, I would really > appreciate it!!! > > Hugs to you all! > Donna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 25, 2005 Report Share Posted February 25, 2005 Hi everyone, just wanted to add that we were told it would be very unusual to have the gene without physical signs of bpes. However we were both tested for the gene just to confirm that Alyssa was the first and it didn't come from us. We understood that there was a slim possibility one of us could have the gene and therefore pass it on again in further pregancies. As it turned out we don't therefore any further children would NOT have bpes. Let us know what your Dr says Leanne after your visit in a couple of weeks. Cheers, Rob and blepharophimosis Re: Will my next baby have BPES? > > Donna, Before answering your question, I will quickly explain my history with BPES. My husband was diagnosed 32 years ago, after many referrals, with congenital pstosis. When we decided to have a baby we were assured that this was not a heriditary condition. Upon the birth of my beautiful, bright and wonderful son it became apparent that he had inherited his father's "condition". Four weeks after my son's birth he was diagnosed with BPES. We are so thankful that our son has been correctly diagnosed as the genetic clinic have been so helpful and have done so much for us. Basically, we have a 50/50 chance of having a baby with BPES. However, as my husband's brother does not have the condition it will not be carried (as has not been) to his children. I would advise to take the time to talk to geneticist. I am not getting any younger myself, but believe that their expertise, experience and intelligence is worth the wait even though appointments may not be frequent. Our geneticist and his cousellor are amazing. My husband undertook the testing to see whether or not they could identify the "mutated" gene. There was only a 50/50 chance of finding the gene, but they did find the "mutated" gene. With this knowledge we are enabled with more of an ability to make decisions in the future. On a further point to other persons who may read this message, please respect your doctors and specialists as they have many years of experience and study. The condition is vary rare, and even though they may appear uncaring it is because they have no experience and are interested in the condition. For example, I took my son to emergency as he was very ill with vomiting. The doctor, for a moment, was fascinated with my son's eye condition as he had never seen it - as had no-one in ever my town of 40,000 people. Good luck in the future. Liz Hi all, > I haven't posted much here but when I have, I just get overwhelmed > with the response - it has helped so much since Halle's diagnosis of > bleph in November. Halle is now 10mos old and doing wonderfully! > > My question is not directly related to Halle this time. I've always > wanted to have 4 children...just something I've told people even when > I was a little girl. My son is now 9, my daughter is 6 and Halle is > 10mos. Halle was the first to have bleph - in our family, and in > this province! > > So my question is this....does this mean that either myself or my > husband now carry this gene permanently? Or was it a one time thing? > I know that Halle has this and will have 50-50 chance of passing it > on to her children. But what about another child that I would have? > In all honesty, it would not affect my decision one way or another > but I know it would my husbands. The geneticist we saw in November > mentioned testing on me and my husband...what are they testing for? > To see if we carry this gene? Is that something they can find out? > > I had emailed all these questions to the geneticist hoping for > answers but she merely told me that we would discuss it all at our > next appointment in April. Well, I'm not getting any younger and am > anxious to start trying. > > Any words of wisdom here? I hate not knowing the answers to these > questions !@#%$@ If any of you can help me, I would really > appreciate it!!! > > Hugs to you all! > Donna Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 26, 2005 Report Share Posted February 26, 2005 Hi guys....I sure will:) Who did your testing for the gene? What did it involve? How is wee alyssa doing anyway? Havn't seen pix of her since she was a newborn, would LOVE to see some if you have to share.....take care, and will catch up after Ethans appt. Leanne and -- Re: blepharophimosis Hi Leanne and Liz Hi everyone, just wanted to add that we were told it would be very unusual to have the gene without physical signs of bpes. However we were both tested for the gene just to confirm that Alyssa was the first and it didn't come from us. We understood that there was a slim possibility one of us could have the gene and therefore pass it on again in further pregancies. As it turned out we don't therefore any further children would NOT have bpes. Let us know what your Dr says Leanne after your visit in a couple of weeks. Cheers, Rob and blepharophimosis Re: Will my next baby have BPES? > > Donna, Before answering your question, I will quickly explain my history with BPES. My husband was diagnosed 32 years ago, after many referrals, with congenital pstosis. When we decided to have a baby we were assured that this was not a heriditary condition. Upon the birth of my beautiful, bright and wonderful son it became apparent that he had inherited his father's "condition". Four weeks after my son's birth he was diagnosed with BPES. We are so thankful that our son has been correctly diagnosed as the genetic clinic have been so helpful and have done so much for us. Basically, we have a 50/50 chance of having a baby with BPES. However, as my husband's brother does not have the condition it will not be carried (as has not been) to his children. I would advise to take the time to talk to geneticist. I am not getting any younger myself, but believe that their expertise, experience and intelligence is worth the wait even though appointments may not be frequent. Our geneticist and his cousellor are amazing. My husband undertook the testing to see whether or not they could identify the "mutated" gene. There was only a 50/50 chance of finding the gene, but they did find the "mutated" gene. With this knowledge we are enabled with more of an ability to make decisions in the future. On a further point to other persons who may read this message, please respect your doctors and specialists as they have many years of experience and study. The condition is vary rare, and even though they may appear uncaring it is because they have no experience and are interested in the condition. For example, I took my son to emergency as he was very ill with vomiting. The doctor, for a moment, was fascinated with my son's eye condition as he had never seen it - as had no-one in ever my town of 40,000 people. Good luck in the future. Liz Hi all, > I haven't posted much here but when I have, I just get overwhelmed > with the response - it has helped so much since Halle's diagnosis of > bleph in November. Halle is now 10mos old and doing wonderfully! > > My question is not directly related to Halle this time. I've always > wanted to have 4 children...just something I've told people even when > I was a little girl. My son is now 9, my daughter is 6 and Halle is > 10mos. Halle was the first to have bleph - in our family, and in > this province! > > So my question is this....does this mean that either myself or my > husband now carry this gene permanently? Or was it a one time thing? > I know that Halle has this and will have 50-50 chance of passing it > on to her children. But what about another child that I would have? > In all honesty, it would not affect my decision one way or another > but I know it would my husbands. The geneticist we saw in November > mentioned testing on me and my husband...what are they testing for? > To see if we carry this gene? Is that something they can find out? > > I had emailed all these questions to the geneticist hoping for > answers but she merely told me that we would discuss it all at our > next appointment in April. Well, I'm not getting any younger and am > anxious to start trying. > > Any words of wisdom here? I hate not knowing the answers to these > questions !@#%$@ If any of you can help me, I would really > appreciate it!!! > > Hugs to you all! > Donna Quote Link to comment Share on other sites More sharing options...
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