new member

Report post · October 8, 2006

Hi Everyone in the New England Area. My name is a. I have part of this group for about 1 year now. I have 5 children., 3 boys and two girls. When my oldest that is now 8 years old was born with BPES. The nurses did not understand why he was not opening his eyes. They all thought he was going to be blind and his eyes were going to be fused shut. A doctor come to days later at the Hospital and knew what he had. She was learning about this in a course. We were lucky she knew what she was talking about. She said he had BPES. He didn't open his eyes for 2 days. He then went to a specialist at Mass Eye and Ear in Boston, MA. He looks great. He had a total of 3 operations before 5 yrs. of age.

I then had 3 more kids after his that do not have BPES. My husband and I do not have BPES either.

I then had my 5 child 15 months ago. She was born with BPES too. She did not open her eyes for 2 wks. The doctor that show my 1st child has not seen a case since my 5th child 8 years later.

This is for everyone that is nervous about the operations. They are the best thing you can do for them.

Good Luck!!

--a J Crowley

-------------- Original message -------------- From: "bethgordon03" <bethgordon03@...>

JuneI was 33 yrs. old when my daughter was born and I knew that my condition was dominant and could be passed on, since my grandfather and father both have it, but no one had ever told me "blepharophimosis" until my daughter was born, even then doctors were hesitant to call it that, but as soon as I found this site I understood. I felt very silly to not know the name of this condition. NOw of course at her age it is obvious that she has BPES, in a newborn it is harder to tell. She didn't open her eyes at all, she couldn't.My daughter is now 26 months and has had slings, and will have canthioplasty in 07. She is a healthy and active toddler. We live in Virginia, USA. Congratulations on your grandson.>> > Hi Everyone, My name is June and you might not belive this but I have a> son Marc who is 33yrs old and I have only just found out the name of his> condition.We were just told it was one of those things,and left to get> on with it(no net to look on then) and I have never met anyone else with> the condition it would have been so good to have been able to talk to> someone who understood! but now I have Just been blessed with a new> grandson Alfie (9th August)who also has bleph so I was able to find you,> and I have got to say it as helped so much to find what can be done now> and to read all the messages and to see the lovely Pictures thanks to> all.> > June x>

Report post · October 8, 2006

My husband and I are both very interested in your last post. Based on what we have been told, is not statistically possible to have 2 children in the same family without an affected parent? Don't get me wrong, I believe that you now have 2 children with BPES, but I hope they can study genetically how that is possible because it says to me that they are missing something in the genetic studies? My understanding is that it is a dominant gene, so how can 2 parents that do not have BPES, therefore not carry the gene, have 2 children with BPES? If neither you nor your husband have BPES, then it has to be a new mutation for you children, and what are the odds of that?

I hope I have not offended you, I would be really interested if you have any answers, or if they can start taking a further look into how this gene mutation occurs.

Sincerely,

Trish

-----Original Message-----From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of PJC930@...Sent: Sunday, October 08, 2006 12:14 AMblepharophimosis Subject: Re: blepharophimosis Re: new member

Hi Everyone in the New England Area. My name is a. I have part of this group for about 1 year now. I have 5 children., 3 boys and two girls. When my oldest that is now 8 years old was born with BPES. The nurses did not understand why he was not opening his eyes. They all thought he was going to be blind and his eyes were going to be fused shut. A doctor come to days later at the Hospital and knew what he had. She was learning about this in a course. We were lucky she knew what she was talking about. She said he had BPES. He didn't open his eyes for 2 days. He then went to a specialist at Mass Eye and Ear in Boston, MA. He looks great. He had a total of 3 operations before 5 yrs. of age.

I then had 3 more kids after his that do not have BPES. My husband and I do not have BPES either.

I then had my 5 child 15 months ago. She was born with BPES too. She did not open her eyes for 2 wks. The doctor that show my 1st child has not seen a case since my 5th child 8 years later.

This is for everyone that is nervous about the operations. They are the best thing you can do for them.

Good Luck!!

--a J Crowley

-------------- Original message -------------- From: "bethgordon03" <bethgordon03 >

JuneI was 33 yrs. old when my daughter was born and I knew that my condition was dominant and could be passed on, since my grandfather and father both have it, but no one had ever told me "blepharophimosis" until my daughter was born, even then doctors were hesitant to call it that, but as soon as I found this site I understood. I felt very silly to not know the name of this condition. NOw of course at her age it is obvious that she has BPES, in a newborn it is harder to tell. She didn't open her eyes at all, she couldn't.My daughter is now 26 months and has had slings, and will have canthioplasty in 07. She is a healthy and active toddler. We live in Virginia, USA. Congratulations on your grandson.>> > Hi Everyone, My name is June and you might not belive this but I have a> son Marc who is 33yrs old and I have only just found out the name of his> condition.We were just told it was one of those things,and left to get> on with it(no net to look on then) and I have never met anyone else with> the condition it would have been so good to have been able to talk to> someone who understood! but now I have Just been blessed with a new> grandson Alfie (9th August)who also has bleph so I was able to find you,> and I have got to say it as helped so much to find what can be done now> and to read all the messages and to see the lovely Pictures thanks to> all.> > June x>

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Checked by AVG Free Edition.

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Report post · November 13, 2006

>

> My husband and I are both very interested in your last post. Based

on

> what we have been told, is not statistically possible to have 2

> children in the same family without an affected parent? Don't get

me

> wrong, I believe that you now have 2 children with BPES, but I hope

they

> can study genetically how that is possible because it says to me

that

> they are missing something in the genetic studies? My

understanding is

> that it is a dominant gene, so how can 2 parents that do not have

BPES,

> therefore not carry the gene, have 2 children with BPES? If

neither you

> nor your husband have BPES, then it has to be a new mutation for you

> children, and what are the odds of that?

> I hope I have not offended you, I would be really interested if you

have

> any answers, or if they can start taking a further look into how

this

> gene mutation occurs.

> Sincerely,

> Trish

>

> Hi Trish

With reference to you message,I do not have blephs and Marc's

Late father didn't have bleph, but now I think about it he didn't

have wide eyes could he have a very mild case hardly noticeable ?

as I said we have only just found out what it is.

June x

> P.S. I live in Warrington, Cheshire UK.

>

> --

> No virus found in this incoming message.

> Checked by AVG Free Edition.

> Version: 7.1.407 / Virus Database: 268.13.1/466 - Release Date:

> 10/7/2006

>

> --

> No virus found in this outgoing message.

> Checked by AVG Free Edition.

> Version: 7.1.407 / Virus Database: 268.13.1/466 - Release Date:

> 10/7/2006

>

Report post · November 23, 2006

Hiya Trish,

Don't know if this helps answer your questions. You are correct,

BPES is caused by a dominant gene meaning you only need one copy

from one parent to be affected yourself. In genetics there are a

couple of ways that two apparently unaffected parents could have

more than one child with the same dominant condition (e.g. BPES).

Sorry, it's a bit complicated.

1) " reduced penetrance " is where the mutation has variable effect so

two people with the same genetic change have different features

ranging from very mild (and potentially not noticeable) to severe.

In this case one of the parents also has the genetic change, but the

penetrance (or effect) is different between the parent and

children. This happens in many conditions but I don't know if this

can happen for BPES because BPES is rare and there isn't a report of

it that I have found. Genetic tests cannot always pick up the

genetic change in BPES to confirm if this is what has happened (ie.

the parent is confirmed to have the mutation but on examination they

look unaffected). From June's post this is what she wonders

happened in her family.

2) " germ line mosaicism " is some of the parents eggs or sperm have

the mutation and some don't - like a mosaic. This happens when one

of the cells in the group that will divide to form the sex cells

(ie. eggs or sperm) undergoes a mutation when it is forming in the

parent, before it divides into sex cells. The parent therefore is

unaffected themselves but this results in some unaffected and some

affected sex cells forming. This parent may therefore have more

than one affected child. The risk of this being the case is very

small. For example, my daughter Abbie has BPES because of a new

mutation which can be seen on her genetics tests but not on mine or

her Dad's. The genetics doctor told me that my risk of having

another child with BPES because of the risk my ovaries

have " mosaicism " is about 2%.

So in answer to your post, yes it is statistically unlikely that

unaffected parents would have more than one child with BPES, but not

impossible.

Sorry thats a bit complicated - hope it helps.

best wishes,

Leah

> >

> > My husband and I are both very interested in your last post.

Based

> on

> > what we have been told, is not statistically possible to have 2

> > children in the same family without an affected parent? Don't

get

> me

> > wrong, I believe that you now have 2 children with BPES, but I

hope

> they

> > can study genetically how that is possible because it says to me

> that

> > they are missing something in the genetic studies? My

> understanding is

> > that it is a dominant gene, so how can 2 parents that do not

have

> BPES,

> > therefore not carry the gene, have 2 children with BPES? If

> neither you

> > nor your husband have BPES, then it has to be a new mutation for

you

> > children, and what are the odds of that?

> > I hope I have not offended you, I would be really interested if

you

> have

> > any answers, or if they can start taking a further look into how

> this

> > gene mutation occurs.

> > Sincerely,

> > Trish

> >

> > Hi Trish

> With reference to you message,I do not have blephs and Marc's

> Late father didn't have bleph, but now I think about it he didn't

> have wide eyes could he have a very mild case hardly noticeable ?

> as I said we have only just found out what it is.

> June x

> > P.S. I live in Warrington, Cheshire UK.

> >

> > --

> > No virus found in this incoming message.

> > Checked by AVG Free Edition.

> > Version: 7.1.407 / Virus Database: 268.13.1/466 - Release Date:

> > 10/7/2006

> >

> > --

> > No virus found in this outgoing message.

> > Checked by AVG Free Edition.

> > Version: 7.1.407 / Virus Database: 268.13.1/466 - Release Date:

> > 10/7/2006

> >

>

Report post · March 9, 2007

Welcome! Sorry you had to join us - but we are

stonger with you!

Keep us posted of your progress!

Chris

CML Diagnosis: 7/14/03

CCR: 11/03

Last PCR at OHSU 00.000 (7/06)

--- iknoey <letitbe@...> wrote:

> Hello, my name is and am new here. I was just

> diagnosed with CML

> last week. I went into the ER with rapid and

> irregular heart rate due

> to my white count (540) and lack of red. I must say

> I was shocked to

> hear CML. Never heard of it, but now very aware of

> it. In a week we

> have my WBC to 67 and falling. Started Gleevec two

> days ago, getting

> ready for night 3. Things seem to be going in the

> right direction.

> Waiting for all the biopsy reports to come in.

>

> I never saw this coming. Went to the ER for a heart

> attack and got the

> shock of my life. I am 41, married with a 13 year

> old. Been scary for

> them, but I put on the brave smiley face. Keeps me

> happy and myself

> and I hope is keeping them from over concern. My

> wife said yesterday

> that I was acting like I had a common cold! I guess

> my way of handling

> this.

>

> Chris

>

________________________________________________________________________________\

____

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Report post · March 9, 2007

Hi Chris

Like you , I was diagnosed in the ER after I went in for something

completely different.

I am sorry that you had to receive this diagnosis, but glad that your

count has come down considerably and that you have started Gleevec.

It can be a very scary time, and often we tend to take care of

everyone around us and leave ourselves for last(emotionally too),

which is probably happening seeing from your wifes reaction. I think

this is pretty normal and typical. In time you will deal with it in

your own way.

There is lots of good information out there for you. Please check

out the CML Society website, it has lots of information for newly

diagnosed patients. If you have any questions, there are lots of

people who can help.

All the best

ne

www.cmlsociety.org

>

> Hello, my name is and am new here. I was just diagnosed with

CML

> last week. I went into the ER with rapid and irregular heart rate

due

> to my white count (540) and lack of red. I must say I was shocked

to

> hear CML. Never heard of it, but now very aware of it. In a week

we

> have my WBC to 67 and falling. Started Gleevec two days ago,

getting

> ready for night 3. Things seem to be going in the right

direction.

> Waiting for all the biopsy reports to come in.

>

> I never saw this coming. Went to the ER for a heart attack and got

the

> shock of my life. I am 41, married with a 13 year old. Been scary

for

> them, but I put on the brave smiley face. Keeps me happy and

myself

> and I hope is keeping them from over concern. My wife said

yesterday

> that I was acting like I had a common cold! I guess my way of

handling

> this.

>

> Chris

>

Report post · March 9, 2007

Hi

Welcome to the club that nobody really wants to be a member of. Glad

you found us.

The good news is that with a simple pill, once a day, CML is turned

into a chronic illness. This is true for more than 85% of the CML

patients.

I'm sure that you will have many questions. Just ask.

Zavie

>

> Hello, my name is and am new here. I was just diagnosed

with CML

> last week. I went into the ER with rapid and irregular heart rate

due

> to my white count (540) and lack of red. I must say I was shocked

to

> hear CML. Never heard of it, but now very aware of it. In a week

we

> have my WBC to 67 and falling. Started Gleevec two days ago,

getting

> ready for night 3. Things seem to be going in the right

direction.

> Waiting for all the biopsy reports to come in.

>

> I never saw this coming. Went to the ER for a heart attack and

got the

> shock of my life. I am 41, married with a 13 year old. Been

scary for

> them, but I put on the brave smiley face. Keeps me happy and

myself

> and I hope is keeping them from over concern. My wife said

yesterday

> that I was acting like I had a common cold! I guess my way of

handling

> this.

>

> Chris

>

Report post · March 9, 2007

Hi Chris

I so remember 17 years ago at the age of 52, " what " I have CML not only do I

have CML but a rare kind that you get in a blood transfusion,Blood transfusion

was in 1957 after my daughter was born,then in 1990 I got a Cortisone shot in

shoulder blade and that woke up the antibody [walla]The medications before

Gleevec were horrible Gleevec was a miracle for all of us,you will have a pretty

good life on it.Something I learned right away , don't drink Coffee with it or

you will be real sick and thro up and don't take it on a empty stomach or the

same will happen.If you need any more help I'm here for you[my cml is called

Mylacetic,children are born with it,adults don't get it on their own.You'll do

good.I went to study in Portland OR.DR.DRUKER who made Gleevec was my dr.

Peggy Irwin

[ ] new member

Hello, my name is and am new here. I was just diagnosed with CML

last week. I went into the ER with rapid and irregular heart rate due

to my white count (540) and lack of red. I must say I was shocked to

hear CML. Never heard of it, but now very aware of it. In a week we

have my WBC to 67 and falling. Started Gleevec two days ago, getting

ready for night 3. Things seem to be going in the right direction.

Waiting for all the biopsy reports to come in.

I never saw this coming. Went to the ER for a heart attack and got the

shock of my life. I am 41, married with a 13 year old. Been scary for

them, but I put on the brave smiley face. Keeps me happy and myself

and I hope is keeping them from over concern. My wife said yesterday

that I was acting like I had a common cold! I guess my way of handling

this.

Chris

Report post · March 9, 2007

Hi I went in for gallbladder operation,still have my gallbladder,my

white count was 87 thousand when i went into Las Vegas hospital,blood so thick

they thought my heart would brake before i got there from Kingman AZ.100 miles

away.

When i tell you this don't let it scare you,Gleevec has stopped working on

me,I'm waiting for a call from my DR. that i'm oked for srycel [new drug you go

on when and if Gleevec stops working,I lasted 6 years on it,you only get this if

Gleevec stops working,So see your covered for a long long time.

Peggy

[ ] new member

Hello, my name is and am new here. I was just diagnosed with CML

last week. I went into the ER with rapid and irregular heart rate due

to my white count (540) and lack of red. I must say I was shocked to

hear CML. Never heard of it, but now very aware of it. In a week we

have my WBC to 67 and falling. Started Gleevec two days ago, getting

ready for night 3. Things seem to be going in the right direction.

Waiting for all the biopsy reports to come in.

I never saw this coming. Went to the ER for a heart attack and got the

shock of my life. I am 41, married with a 13 year old. Been scary for

them, but I put on the brave smiley face. Keeps me happy and myself

and I hope is keeping them from over concern. My wife said yesterday

that I was acting like I had a common cold! I guess my way of handling

this.

Chris

Report post · March 9, 2007

correction-SPRYCEL IS THE NEW MEDICATION FOR CML

Peggy

[ ] new member

Hello, my name is and am new here. I was just diagnosed with CML

last week. I went into the ER with rapid and irregular heart rate due

to my white count (540) and lack of red. I must say I was shocked to

hear CML. Never heard of it, but now very aware of it. In a week we

have my WBC to 67 and falling. Started Gleevec two days ago, getting

ready for night 3. Things seem to be going in the right direction.

Waiting for all the biopsy reports to come in.

I never saw this coming. Went to the ER for a heart attack and got the

shock of my life. I am 41, married with a 13 year old. Been scary for

them, but I put on the brave smiley face. Keeps me happy and myself

and I hope is keeping them from over concern. My wife said yesterday

that I was acting like I had a common cold! I guess my way of handling

this.

Chris

Report post · March 9, 2007

Hello Peggy, thanks for you words. This is all so new to me. Be afflicted

with a disease I never had heard of! I seem to be responding well and have

done everything the Dr's tell me. The first three days in the hospital were a

living you know what. Just scared as I did not understand what I have.

My outlook after just over a week is great. Cannot wait to get back to work

and having fun, again. This has been a real eye opener and reminder of what

is important in life. I am a traveling sales rep. I am cutting my

territory by a third. Just want more down time with the family. I have been a

work-a-holic for far too many years.

Chris

************************************** AOL now offers free

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Report post · March 9, 2007

Hi Peggy,

Welcome to the group and congratulations on your long survival.

Hearing stories of survival is very inspiring for the newly diagnosed.

I'd just like to clarify a few things that you said. I'm assuming

that you have CML (Chronic Myelogenous Leukemia which is sometimes

also called Chronic Myeloid Leukemia or Chronic Myelocytic

Leukemia). You referred to your illness as Chronic " Mylacetic "

Leukemia but I'm assuming that this was a spelling mistake because

I've never heard of such a disease.

If you do indeed have Chronic Myelogenous Leukemia, it cannot be

caught from a blood transfusion like a virus and there are no

antibodies to wake it up. CML is an acquired disease that forms

when there is damage to the DNA, essentially, two chromosomes swap

DNA material to form the Philadelphia chromosome.

It is not something that anyone is born with but it develops on its

own and no one knows exactly what causes it to develop but rest

assured that it was not something you caused to happen. It is very

rare in children and is considered " an old person's leukemia "

although we have many members here who are not that old at all (20's

and 30's and even some parents of teenagers who have it post here).

You can read more about it here:

http://cml.leukemia-lymphoma.org/CMLApp/Controller?

action=loadContent & itemid=191240 & ln=2

You'll have to copy the URL in two pieces though since it is broken

up on the post. Alternately, you can search the Leukemia & Lymphoma

website here http://www.leukemia-lymphoma.org/hm_lls

Take care,

Tracey

dx Jan 2002

>

> Hi Chris

> I so remember 17 years ago at the age of 52, " what " I have CML not

only do I have CML but a rare kind that you get in a blood

transfusion,Blood transfusion was in 1957 after my daughter was

born,then in 1990 I got a Cortisone shot in shoulder blade and that

woke up the antibody [walla]The medications before Gleevec were

horrible Gleevec was a miracle for all of us,you will have a pretty

good life on it.Something I learned right away , don't drink Coffee

with it or you will be real sick and thro up and don't take it on a

empty stomach or the same will happen.If you need any more help I'm

here for you[my cml is called Mylacetic,children are born with

it,adults don't get it on their own.You'll do good.I went to study in

Portland OR.DR.DRUKER who made Gleevec was my dr.

> Peggy Irwin

Report post · March 9, 2007

Hi Peggy,

Although Sprycel is a new medication for CML, Gleevec is still the

front line treatment for newly diagnosed patients. Some centres are

doing clinical trials for newly diagnosed patients who are randomized

to take either Gleevec or Sprycel in an effort to find out which one is

more effective but this is only being done in a trial setting. The

standard front line treatment is still Gleevec.

Take care,

Tracey

>

> correction-SPRYCEL IS THE NEW MEDICATION FOR CML

> Peggy

>

Report post · March 9, 2007

Hi

You have the right attitude,you'll do well,when chips are down family is all you

have,having stuff doesn't even matter.

Peggy

Re: [ ] new member