To; Shireen Re; Dom/Genetic Testing

[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