RE: please help (and family tree idea)

[Guest guest]

Regarding your comment, Rob: females with BPES are generally infertile due to ovarian failure at an early age,

The word "generally" is a bit misleading. It is possible for some females with BPES to have children. I have to say I would not use the word "generally" in the same way that you have done.

It might be that those with fertility problems could have had children at early ages (I mean late teens and early 20s).

Some of the members of our group have children with BPES and additional complications. So it is pretty difficult to work out if those additional complications have any impact on fertility.

We could do some fact finding here, by showing mini family trees: ( I have tried to work out Shell's family from her email below, and I have done mine)

M = affected Male

m = unaffected male

F= affected female

f = unaffected female

x = child, gender not specified, not affected

X = child, gender not specified, affected

?? = we don't know if they had kids.

blank means we know that they have not yet had kids.

By the way, I have represented 's tree because it is so interesting. ( provided me with some more information, and was happy for me to do this).

?

|

------------------

| | | (Shellly's great-grandfather and his twin brothers)

M M M

|

|

M ('s grandfather)

|

--------------------------------

| |

M ('s dad) m

| |

----------------------- ---------

| | | | |

F(shelly) m f m f

| | |

--------- -------- -----

| | | | | | | |

M M m m m f m f

says she thinks the twin brothers had kids.

Shireen's family tree

m+f m+f

| |

----------- --------

| | | |

f m + f f

| | |

----- ----------- ------------

| | | | | | | |

f f m F(shireen) m m m m

No children of my cousins have BPES

Neither of my brothers are parents. I don't have any children.

I suppose many of us are interested in hearing about unaffected people too. By the way, I recognise that by sharing this information on such an open way, people are being very helpful. Yet, I can understand it if some people don't feel comfortable sharing info.

Shireen

-----Original Message-----From: Rob [mailto:rawatson@...]Sent: 08 July 2004 15:01blepharophimosis Subject: Re: blepharophimosis please help,> I was told that if you have BPES then there is a 50/50 chance that you will> pass it on.I was also told that, by genetic counsellors. There appears to be two distinct camps in the BPEI genetics world: the "50/50" camp, and the "(100 or 96.5)/(0 or 3.5)" camp. I don't know which one to believe. I just don't have any references, in my puny collection, to scholarly articles supporting the 50/50 camp that I can point folks to. I'm sure they exist, but I don' got none o' dem.> In my family that rings true. BPES has been passed down for> generations in my family. I have passed it on to 2 of my children.Which also gives me pause to question some of the "experts" who claim that (a) females with BPES are generally infertile due to ovarian failure at an early age, and ( males with Type I have sons, while males with type II have daughters.> I'm not> exactly sure how far back it goes in my family, but i do know that my> grandfather's father had it and so did his twin brothers. That's as far> back as i know. My grandfather has it, passed it on to my father, who> passed it on to me, and i passed it on to 2 of my 3 sons. My brother> doesn't have it and neither do any of his 3 children, and my half sister> doesn't have it and neither do her 2 kids.(I assume she shares the "father" half with you?)Very interesting indeed. I'm sure "doesn't have it" really means that, rather than "doesn't appear to have it", since its absence in certain arms of the family seems quite thorough.It's all too hard, this genetics thing. I'll run away and hide for a while.Rob