Re: To; Shireen Re; Dom/Genetic Testing

[Guest guest]

Leonie, i was curious to see what you were talking about "width wise his eyes were normal" so i looked at your son's pictures again and you are right width wise his eyes are beautifully huge!! lol he is sooooo cute by the way, i see now why you are wondering if the diagnosis is 100% correct,  Tonikka & (lynden BPES)edmonton alberta CANADAneed a photographer?tmareephotography.comtmareephotography.blogspot.comspecial occasion? wedding?updotoyou.com On 5-Jan-09, at 12:55 PM, cretemum wrote:Hi Shireen,Thanks for your reply. Sorry if I confused you; I sometimes do that to folk!Dominic (Dom) is my two year old. My husband, my two older children and myself do not have BPES and no one in our families do. Dom is the first.When Dom was dx with BPES they noted he had ptosis of the upper lids and epicanthal folds but that his eye openings, width ways, were normal although the eyes are widely spaced and he has a flat nasal bridge.They dx BPES despite the absence of one of the symptoms. Dominic then had genetic testing, searching for the genes involved in BPES but the results came back 'normal' i.e. none of his chromosomes have anything deleted/mutated etc. They specifically tested for BPES and a few other syndromes to possibly link the BPES with the Hydrocephalus. Nothing was found.I did ask the medics whether or not the dx of BPES was therefore accurate and was told that it was. This obviously left us in some limbo as we do not now know which type he has or whether it can be passed on to our sons children in the future.Whilst I know that all the above changes nothing; i.e. Dom is as he is whether he has BPES or not, I am obviously interested to know; I will be asking these questions amongst others in May at the conference.But I thought I would see if anyone else on this site has had this situation occur.Thanks for your continuing support; you do a wonderful job.Best WishesLeonie

[Guest guest]

>

> > Hi Shireen,

> >

> > Thanks for your reply. Sorry if I confused you; I sometimes do

that to

> > folk!

> >

> > Dominic (Dom) is my two year old. My husband, my two older

children

> > and

> > myself do not have BPES and no one in our families do. Dom is

the

> > first.

> >

> > When Dom was dx with BPES they noted he had ptosis of the upper

lids

> > and epicanthal folds but that his eye openings, width ways, were

> > normal

> > although the eyes are widely spaced and he has a flat nasal

bridge.

> >

> > They dx BPES despite the absence of one of the symptoms. Dominic

then

> > had genetic testing, searching for the genes involved in BPES but

the

> > results came back 'normal' i.e. none of his chromosomes have

anything

> > deleted/mutated etc.

> > They specifically tested for BPES and a few other syndromes to

> > possibly

> > link the BPES with the Hydrocephalus. Nothing was found.

> >

> > I did ask the medics whether or not the dx of BPES was therefore

> > accurate and was told that it was. This obviously left us in

some

> > limbo

> > as we do not now know which type he has or whether it can be

passed on

> > to our sons children in the future.

> >

> > Whilst I know that all the above changes nothing; i.e. Dom is as

he is

> > whether he has BPES or not, I am obviously interested to know; I

will

> > be asking these questions amongst others in May at the conference.

> >

> > But I thought I would see if anyone else on this site has had this

> > situation occur.

> >

> > Thanks for your continuing support; you do a wonderful job.

> >

> > Best Wishes

> >

> > Leonie

> >

> >

> >

>

[Guest guest]

have you talked to them about congenital ptosis? bilateral ptosis? or your son could just have nice big openings, if you look thru the pictures there are a few other little ones with wide openings etc... like miles and tehrahAlso the severity of BPES varies to a degree where some people don't even know they have it because the visual characteristics are so slight, then you have others like my lynden where the BPES is so severe... ... hopefully you will find the answers you are looking for... Tonikka & Chrisneed a photographer?tmareephotography.comtmareephotography.blogspot.comspecial occasion? wedding?updotoyou.com On 5-Jan-09, at 1:33 PM, cretemum wrote:> > > Hi Shireen,> >> > Thanks for your reply. Sorry if I confused you; I sometimes do that to> > folk!> >> > Dominic (Dom) is my two year old. My husband, my two older children > > and> > myself do not have BPES and no one in our families do. Dom is the > > first.> >> > When Dom was dx with BPES they noted he had ptosis of the upper lids> > and epicanthal folds but that his eye openings, width ways, were > > normal> > although the eyes are widely spaced and he has a flat nasal bridge.> >> > They dx BPES despite the absence of one of the symptoms. Dominic then> > had genetic testing, searching for the genes involved in BPES but the> > results came back 'normal' i.e. none of his chromosomes have anything> > deleted/mutated etc.> > They specifically tested for BPES and a few other syndromes to > > possibly> > link the BPES with the Hydrocephalus. Nothing was found.> >> > I did ask the medics whether or not the dx of BPES was therefore> > accurate and was told that it was. This obviously left us in some > > limbo> > as we do not now know which type he has or whether it can be passed on> > to our sons children in the future.> >> > Whilst I know that all the above changes nothing; i.e. Dom is as he is> > whether he has BPES or not, I am obviously interested to know; I will> > be asking these questions amongst others in May at the conference.> >> > But I thought I would see if anyone else on this site has had this> > situation occur.> >> > Thanks for your continuing support; you do a wonderful job.> >> > Best Wishes> >> > Leonie> >> >> >>

[Guest guest]

Hi Leoni

Thanks for explaining… Are you able to let us know where the

genetic testing was carried out?

Am only asking because I am in infrequent communication with

some geneticists, and I try to collect the rarer questions and ask a whole

bunch in one go.

Thanks

Shireen

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of cretemum

Sent: 05 January 2009 19:55

blepharophimosis

Subject: blepharophimosis To; Shireen Re; Dom/Genetic Testing

Hi Shireen,

Thanks for your reply. Sorry if I confused you; I sometimes do that to

folk!

Dominic (Dom) is my two year old. My husband, my two older children and

myself do not have BPES and no one in our families do. Dom is the first.

When Dom was dx with BPES they noted he had ptosis of the upper lids

and epicanthal folds but that his eye openings, width ways, were normal

although the eyes are widely spaced and he has a flat nasal bridge.

They dx BPES despite the absence of one of the symptoms. Dominic then

had genetic testing, searching for the genes involved in BPES but the

results came back 'normal' i.e. none of his chromosomes have anything

deleted/mutated etc.

They specifically tested for BPES and a few other syndromes to possibly

link the BPES with the Hydrocephalus. Nothing was found.

I did ask the medics whether or not the dx of BPES was therefore

accurate and was told that it was. This obviously left us in some limbo

as we do not now know which type he has or whether it can be passed on

to our sons children in the future.

Whilst I know that all the above changes nothing; i.e. Dom is as he is

whether he has BPES or not, I am obviously interested to know; I will

be asking these questions amongst others in May at the conference.

But I thought I would see if anyone else on this site has had this

situation occur.

Thanks for your continuing support; you do a wonderful job.

Best Wishes

Leonie