Genetics Appointment - P.O.F

[Guest guest]

G'day everyone,

My daughter and I both have Bleph and together with my husband we

went for an appointment with a Geneticist at the Royal Children's

Hospital (Melb, Aust) and I just thought I'd share our experience

with you all and let you know what we learnt.

Basically my main concern was to find out if I would be effected by

P.O.F. They told me the only way they could find out if I have Type

1 or Type 2 would be to send some blood off to find the gene.

Unfortunately this can't be done here in Australia and is quite

expensive but they suggested that I go and have some tests done on my

hormones as that may indicate if I'm heading towards early

menopause. They also told me that those who know they will be

effected by P.O.F could have children as they could freeze some of

their eggs when they are younger. I also think they said something

about hormone treatment to prolong menopause but I'm not sure how

that works.

As I'm 31 they seemed to think that I probably wouldn't be effected

by P.O.F but couldn't be sure. Can anyone who has been effected by

it tell me what age it occurred?

An interesting fact that I learnt was that if two people who have

Bleph have a child together there is a 1 in 4 chance that the child

will NOT be effected. Weird huh!!

I also asked if I could pass on a more severe degree of Bleph than I

have and they said it is possible. Has this happened to anyone?

Cheers

[Guest guest]

wrote:

> G'day everyone,

Maaaaaate.

>

[snip]

> I also asked if I could pass on a more severe degree of Bleph than I

> have and they said it is possible. Has this happened to anyone?

Expressivity (the fancy-shmancy geneticists' word for severity) can

certainly vary from person to person. I haven't seen any literature that

suggests a correlation between the severity of a parent's BPES and that

of their child.

My own experience supports this: My son's is barely noticeable, mine was

severe, my father's was barely noticeable, his father and sister got a

full dose like me.

The same variability applies to POF in Type I females. In the de Baere

article that Shireen regularly posts enormous links to, it says

" ...intra- and interfamilial variable expressivity of the development of

POF has been observed. " (They use big words, don't they?)

> Cheers

No wuckers.

>

Rob W

[Guest guest]

--- In blepharophimosis , " " <claire.haun@...>

wrote:

>

> > An interesting fact that I learnt was that if two people who have

> Bleph have a child together there is a 1 in 4 chance that the child

> will NOT be effected. Weird huh!!

>

something interesting that we found out at our genetics appointment for

Todd was if you have one child affected (as a first spontaneous case in

a family) then your chances of having another affected child is higher

than the general population as it can't be ruled out that when the

genetic fault occurred originally it may have affected more than one

egg/sperm

Caroline

UK