Re: To Shireen and Leoni Re; Dom/Genetic Testing

[Guest guest]

Oops, Correction, I will be seeing the UK group on the 18th Jan

> >

> > 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

> >

>

[Guest guest]

Hello All,

When my daughter and I met with a genetic counselor in Madison, Wisconsin, USA, in the fall of 2008; we were told that genetic testing was a possibility for her but that the tests were only done in Belgium. At that time, we already knew what was important for us to know and opted not to have the testing but will be working with other specialists regarding potential fertility issues and further surgeries if needed.

From: <parsonsfamily108@...>Subject: blepharophimosis To Shireen and Leoni Re; Dom/Genetic Testingblepharophimosis Date: Tuesday, January 6, 2009, 3:09 AM

Hi Leoni and ShireenMy daughter, Kirsten (6yrs) has BPES. All her initial chromosome tests came back normal. By initial tests, I mean karyotype. She has 46 chromosomes which all look normal. These chromosome tests were done in South Africa and also in England.The diagnosis of BPES was only confirmed genetically when her blood was sent to the lab in Belgium and a deletion at FOXL2 was confirmed.It took 3 months to get the results, but I understand it has been known to take longer.Looking forward to seeing everyone on the 13th!Regards ParsonsColchester, UK >> 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>