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  1. #1
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    Default Totally freaked out now - I think I need genetic counselling

    http://onlinelibrary.wiley.com/doi/1...00.00259.x/pdf

    Backstory: I have binders syndrome. It's a rare syndrome where I was born with a flat nose, operated on at 6 months, 4 years, 17 years and 22 years. I endured a decade of children asking their parents what was wrong with my face, endured taunts of flat nose, ugly, low self confidence etc...

    At 17 I became normal. not hot but normal. I mean it. That surgeon BUILT me my own nasal passages, and gave me a nose. Suddenly guys were asking me out and I was getting wolf whistles not jeering from guys my age.

    So where am I getting to...

    When I was diagnosed at 14, (FINALLY...) the initial plastic surgeon my doctor referred me had a diagnosis before we'd even sat down in his chair. He said to my mum "She's clearly got binders syndrome... and so have you"

    I dunno why I thought to do some more research on this today, I was bored... and we've been TTC since august so i thought maybe it was a contributing factor or something.

    Some of my searching has turned up that ultrasonographers can now diagnose this in the womb. Which is great because it means that chances are I won't be told "Don't worry, the nose takes a while to come back after birth" like my mother was told about me... It also means if I have a baby and it screams for two weeks straight or just holds its breath for no reason; I know there's a real possibility they don't have proper nasal passages (like me)

    The downside is I'm disturbed by some of the opinions I've found on the net. Whilst I know that every doctor is different, every country is different, I've read a lot of advice today that SOME doctors are encouraging mothers pregnant with babies with binders syndrome to terminate.

    Apparently my syndrome can "cause mild mental retardation"
    In my family that's a load of bull!!! My mother was due of her school and I got a high OP and Uni degree... plus a research paper to my name.

    What should I do? It's INCREDIBLY likely I'm going to pass this syndrome down (Mum has it, I have it...)

    we're not pregnant yet, but apparently the 2D ultrasound can diagnose (3D is then prescribed to confirm)

    the research I've done today says apparently familial cases of this disease are rare but the fact that I can remember the surgeon telling my mother she had it too tells me that in my case it's familial and I'll probably hand it down...

    Has anyone done genetic counselling before? Should I just wait until I get pregnant or do something about it now... Should I do anything about this at all???

    Am I freaking over nothing??

    Help ladies...

  2. #2
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    You're not freaking out over nothing, but I think you've overestimated the risk of passing it on.

    Table 1 of the paper you linked says that Binder syndrome can be autosomal recessive or autosomal dominant. If there's a PCR (DNA) test available you can find out if you have 2 copies of the Binder DNA (the recessive version) or 1 copy of the syndrome (the dominant version). n.b. I have assumed that your father doesn't have it so therefore you can't have 2 copies of the dominant version.

    If you have the recessive version, then assuming that your partner isn't a silent carrier of it (he could also be tested for the Binder DNA sequence to confirm this) then your child definitely won't have the syndrome (but they may be a silent carrier of the gene).

    If you have the dominant version (most likely scenario based on limited information provided), then there's a 50:50 chance of passing it on. i.e. There's a 50% chance that your child and their descendants will be completely free of the syndrome.

    From your own experiences it sounds like you're in the perfect position to recognise, educate and deal with the syndrome if your child should have it.

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    lightsaber  (09-12-2011)

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    Try not to freak out too much. I am a symptomatic carrier of Haemophillia B and had to do genetic counselling and was also offered a termination.

    Being a family condition, you may have more insight into it than the medical staff you will encounter, unless they are studying it specifically. It's not something you need to be freaking out about now, so try to relax And step away from google!

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    Ive been in similar shoes.

    I have a cleft lip & palate. We were about to see a geneticists when we found out I was UTD with the triplets. Choice was taken out of our hands.

    At 18 weeks a scan showed NO ONE had a cleft lip, if any had & it's was at the extreme end of the scale, I would have seriously considered termination.

    Just goes to show you can have a genetic issue & not pass it on.
    Last edited by TripleTime; 09-12-2011 at 18:58.

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    It is usually best if you have genetic counselling prior to getting pregnant, so there is time to do any investigations, or genetic testing that you want done, if they are available.

    I was born with clubfeet (talipes) and my kids have an increased chance of inheriting it. Genetic testing is not available, but they can be diagnosed prenatally via ultrasound. While i would not terminate a pregnancy based on a diagnosis of clubfeet, if it was diagnosed i would have specialists organised before bub is born so that i can get treatment starter sooner.

    It sounds like having prior knowledge of a baby having Binder syndrome would also allow you to investigate current treatments and potential drs during your pregnancy. Genetic counsellors can also help organise contact with specialists who are familiar with specific conditions.

    Your GP can help put you in touch with a genetic service or you can ring them yourselves, most women's or chldren's hospitals have genetic services or can let you know where the closest one is.

    best of luck

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    Quote Originally Posted by lightsaber View Post
    http://onlinelibrary.wiley.com/doi/1...00.00259.x/pdf

    Backstory: I have binders syndrome. It's a rare syndrome where I was born with a flat nose, operated on at 6 months, 4 years, 17 years and 22 years. I endured a decade of children asking their parents what was wrong with my face, endured taunts of flat nose, ugly, low self confidence etc...

    At 17 I became normal. not hot but normal. I mean it. That surgeon BUILT me my own nasal passages, and gave me a nose. Suddenly guys were asking me out and I was getting wolf whistles not jeering from guys my age.

    So where am I getting to...

    When I was diagnosed at 14, (FINALLY...) the initial plastic surgeon my doctor referred me had a diagnosis before we'd even sat down in his chair. He said to my mum "She's clearly got binders syndrome... and so have you"

    I dunno why I thought to do some more research on this today, I was bored... and we've been TTC since august so i thought maybe it was a contributing factor or something.

    Some of my searching has turned up that ultrasonographers can now diagnose this in the womb. Which is great because it means that chances are I won't be told "Don't worry, the nose takes a while to come back after birth" like my mother was told about me... It also means if I have a baby and it screams for two weeks straight or just holds its breath for no reason; I know there's a real possibility they don't have proper nasal passages (like me)

    The downside is I'm disturbed by some of the opinions I've found on the net. Whilst I know that every doctor is different, every country is different, I've read a lot of advice today that SOME doctors are encouraging mothers pregnant with babies with binders syndrome to terminate.

    Apparently my syndrome can "cause mild mental retardation"
    In my family that's a load of bull!!! My mother was due of her school and I got a high OP and Uni degree... plus a research paper to my name.

    What should I do? It's INCREDIBLY likely I'm going to pass this syndrome down (Mum has it, I have it...)

    we're not pregnant yet, but apparently the 2D ultrasound can diagnose (3D is then prescribed to confirm)

    the research I've done today says apparently familial cases of this disease are rare but the fact that I can remember the surgeon telling my mother she had it too tells me that in my case it's familial and I'll probably hand it down...

    Has anyone done genetic counselling before? Should I just wait until I get pregnant or do something about it now... Should I do anything about this at all???

    Am I freaking over nothing??

    Help ladies...

    Hi,

    I have studied genetics, but are by no means a specialist in Binders Syndrome! Firstly, Binders syndrome genetics is not as simple as just dominant and recessive. It is a combination of genes that are needed, and thus it is hard to define if you have the gene, if it is familial etc. So you cant really go by that alone.


    Secondly, the article that you are reading is 10 yrs old as far as I can see. 10 Years in genetics is about 100 years in anything else! I would definitely not make any decisions based on that!

    Thirdly, if you read about the retardation, it says that out of 108 patients (I think), 7 of them showed slight retardation. Four out of this seven had another "problem" too such as down syndrome - so really you cant rely on those having anything to do with Binders. The other three showed lower school results than average. When I hear the words mental retardation - lower school result are not what comes to mind. And I am sure that if you did a survey of non-binders people, 3% of them would also be lower than average! So I would really look into how valid this is.

    Anyway, I am rambling. My advice to you is this: You need to make a decision based on the most current medical/genetic knowledge. I would definitely see a genetic councellor just so that I was well informed of the condition. Even just in terms of knowing everything about it so that if your baby does have it, you will be completely up to speed on the latest tests, knowledge, treatment etc. Its not going to do you any harm to see them, and as they say knowledge is power

    Good luck, I really hope this helps!!

  9. #8
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    Hello, My daughter is 17 years old and she has Binders Syndrome. She is about to have her 4th surgery this summer in Dallas, Texas. I tried to send you a private message but couldn't figure it out. My daughter is having such a difficult time and I figured if anyone understands it'd be you. Thank you.


 

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