Re: Re: Drug Causes for blepharophimosis

[Guest guest]

I just wanted to say to everyone who has posted

recently about hoping to find a cause for bleph - that

I do understand why you are wanting answers. But in

everything I have read and in every doctor I have

spoken to - I understand BPES to be caused by a RANDOM

gene mutation. One doctor told me to think about it

like down syndrome -

Down syndrome is due to a random event that occurred

during formation of the reproductive cells, the ovum

or sperm. As far as it is known, Down syndrome is not

attributable to any behavioral activity of the parents

or environmental factors. I know BPES and Downs are

NOT the same thing - but the random event that occurs

is the same.

I know there are doctors on this board - perhaps

someone can provide a more technical perspective.

Shireen sent some very helpful links on research. I

just wanted to encourage everyone not to blame their

child's BPES on something they took or something they

did. Instead, just focus on the wonderful person your

child is and how best to help them.

Just my opinion of course.

April

--- fxue2000 <fxue2000@...> wrote:

> Hi, All

> I might be so crazy to think about the possibility

> for

> causing the congential ptosis. I want to talk about

> the medications or activities which may cause the

> problem. I am wondering how many mom took

> progestrone type of medication and having baby with

> this problem. I took " Prometrium " in the fist two

> months of pregnancy

> to prevent miscarriage, 100mg/day for first 60 days.

> Currently, I think

> doctor like to give medication to prevent the

> miscarriage.

>

> Thanks.

>

>

>

>

>

>

>

>

__________________________________________________

[Guest guest]

I am a physician and a parent of a child with BPES and I fully concur. I have also researched this issue and could not find literature to clearly support a particular cause or exposure. It is important to remember several things. First, given the complexity of development of an embryo, it is a miracle that more things do not go wrong. Spontaneous genetic mutations are the rule, not the exception.

In regard to causation, it is important to remember that although some or even many people with children with BPES may have been exposed to a particluar drug, there is a large number of people who took that same drug who do NOT have children with BPES. This is the"denominator" and it is very importatnt to keep in mind. To make the point through an admittedly absurd example, all women who have children with BPES drank water during pregnancy-but noone would argue that water therefore is the cause of BPES. Again, an absurd example, but you get the point.

Whenever you try to research a particular drug or exposure to look for causation, you need to not only ask parents in the BPES group about exposures, you also need a control group of parents of children without BPES. For example you could survey the parents of incoming freshman to Harvard, or the parents of children entering a school for gifted children ( both groups I hope would be over-represented by children with BPES!). Whatever "control" group you chose, the profile of the parents should be generally similar to the parents in your BPES group. Rememebr also that your BPES parents are already a skewed population of people who not only have computers in their home but are a subset of people showing greater than average motivation to learn and share information.

Mark C, MD (Internal medicine)

-------------- Original message -------------- From: april Eisele <aprileisele@...> I just wanted to say to everyone who has postedrecently about hoping to find a cause for bleph - thatI do understand why you are wanting answers. But ineverything I have read and in every doctor I havespoken to - I understand BPES to be caused by a RANDOMgene mutation. One doctor told me to think about itlike down syndrome - Down syndrome is due to a random event that occurredduring formation of the reproductive cells, the ovumor sperm. As far as it is known, Down syndrome is notattributable to any behavioral activity of the parentsor environmental factors. I know BPES and Downs areNOT the same thing - but the random event that occursis the same. I know there are doctors on this board - perhapssomeone

can provide a more technical perspective. Shireen sent some very helpful links on research. Ijust wanted to encourage everyone not to blame theirchild's BPES on something they took or something theydid. Instead, just focus on the wonderful person yourchild is and how best to help them.Just my opinion of course. April--- fxue2000 <fxue2000@...> wrote:> Hi, All > I might be so crazy to think about the possibility> for> causing the congential ptosis. I want to talk about> the medications or activities which may cause the> problem. I am wondering how many mom took> progestrone type of medication and having baby with> this problem. I took " Prometrium " in the fist two> months of pregnancy > to prevent miscarriage, 100mg/day for first 60 days.> Currently, I think > doctor like to give medication to prevent the> miscarriage.

> > Thanks.> > > > > > > > __________________________________________________