RE: Hi Clare

[Guest guest]

Hi Clare,

I am new to this site and see that both you and your daughter had your surgery done by Mr Collin. Can you tell me what surgery he performed - were the surgeries the same for both of you? We live in Calgary, Alberta, Canada and I have read lots of positive results on surgeries performed by Mr Collin. I am interested in taking our son who is 2 1/2 to Mr Collin - can you give me any advice on how to contact him?

Have subsequent surgeries been required as you grow? Do your lids function? Do you find your eyes drying out? I have been told that a result of the sling surgery is that your eyes are dry and some individuals eventually require cornea transplants. My husband and I have been told by the geneticist we've seen that this is a new genetic mutation.

Appreciate your info.

Thanks and take care,

JodieClare Teale <clareteale@...> wrote:

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

[Guest guest]

Hi Jodie,

Just to jump in and tell you a little about my situation ...My husband and both my sons have BF ....Yes dry eye condition is a problem ....Mostly because when they lift the lids a lot of patients never fully close their eye during sleep. All my guys have to put in a gel at night, which keeps their eyes moist. They will have to do this forever probably. As for the cornea transplant, I personnaly, threw much research, have never heard of this. If you do the gel and get monitored correctly ever 6 mo or yr so...You should never get to the point of a transplant. Please if anyone knows differently correct me if i am wrong...but that is my expierence. They also say you can tape your eyes shut at night and that corrects that problem totally....But I don't know anyone who can sllep with their eyes taped shut ! lol

Regards, Sharon jodie filewych <jodiefilewych@...> wrote:

Hi Clare,

I am new to this site and see that both you and your daughter had your surgery done by Mr Collin. Can you tell me what surgery he performed - were the surgeries the same for both of you? We live in Calgary, Alberta, Canada and I have read lots of positive results on surgeries performed by Mr Collin. I am interested in taking our son who is 2 1/2 to Mr Collin - can you give me any advice on how to contact him?

Have subsequent surgeries been required as you grow? Do your lids function? Do you find your eyes drying out? I have been told that a result of the sling surgery is that your eyes are dry and some individuals eventually require cornea transplants. My husband and I have been told by the geneticist we've seen that this is a new genetic mutation.

Appreciate your info.

Thanks and take care,

JodieClare Teale <clareteale@...> wrote:

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

[Guest guest]

Hi Clare and Emy

Missed you a the last UK meeting. Hope you and Emy and the family are keeping well.

Speak to you soon

Joyce, Mayowa & Tina