Re: BPES - Support in Australia

[Guest guest]

>

> Hi there

>

> My 3 week old daughter has just been diagnosed with BPES. I

discovered

> your website when researching the condition on the internet. Are

there

> any other members living in Australia that can offer some advice

on

> doctors , specialists , cosmetic surgeons etc ?

>

> Most people I talk to have never heard of BPES , so I feel like my

> husband and I need to get as much information that will help us

ask

> better questions of the specialists and what we can expect in our

> newborn baby, and in the years to come...

>

> Any advice would be most appreciated.

> Regards

> Catharine

>

Hi Catharine,

congratutations with your little daugther. I understand completely

how you feel. I have a son in 4 month with BPES. I still get sad

when I look at him, but he is my beatifull little baby-boy and I

love him so much. I live on the other side of the world but I hope

you will find the best treatment and the best doctors. I wish all

the best for your family and your daugther. I guess we have to learn

them to be strong and tell them how speciel they are to us. Give

your daughter lots of kisses and let us know how things turn out.

Best wishes from Denmark, Sylvesters mom.

[Guest guest]

Hi ,

Welcome.

> My 3 week old daughter has just been diagnosed with BPES. I

> discovered

> your website when researching the condition on the internet. Are

> there

> any other members living in Australia that can offer some advice on

> doctors , specialists , cosmetic surgeons etc ?

Yes. I'm in Syd-er-ney. Where are y'all? There is a database/survey

within the forum of who lives where. Every now & then Shireen posts a

summary of each major geography. Here is the Oz/NZ posting from January

22 this year:

blepharophimosis/message/3777

Of course, this is just showing those in the forum who have entered

their details. There may be any number of watchers/lurkers who live

nearby but we don't know about.

I know of some BPES-experienced surgeons in Sydney and Melbourne. There

may be others elsewhere.

> Most people I talk to have never heard of BPES , so I feel like my

> husband and I need to get as much information that will help us ask

> better questions of the specialists and what we can expect in our

> newborn baby, and in the years to come...

BPES is sufficiently rare that most 'normal' doctors, paediatricians

(don't get me started on THEM), and geneticists have never heard of it.

Even most ophthalmic and plastic surgeons never see a real case in their

lives.

Being informed is absolutely the right approach. One thing we did was to

look up journal articles (at the time, about 10 years ago, Medline was

the only Internet resource) and pester our local (Westmead) children's

hospital library to get them for us. These days, it's easier to find

information online, but journal publishers are still generally quite

parsimonious when it comes to making their material freely available.

This post has links to good general info for starters:

blepharophimosis/message/3790

We shopped around for appropriately experienced medicos. Probably

interviewed half a dozen or so (including interstate) before settling on

one that we knew had done it before. BPES is sufficiently rare and

" interesting " that surgeons seem keen to get their hands on a case,

perhaps for their CVs; we give such shysters a wide berth. We always

grill doctors thoroughly and without mercy.

Rob W

[Guest guest]

Hi Rob and thanks so much for getting back to me.

this is the first chance Ive had to sit here ( glass of wine in hand ) and write

an email. Bridget is a good baby but feeds every 3 hours so im a bit exhausted.

Anyway , we are based in Canberra , so travelling to Sydney / Melbourne for

surgery etc seems inevitable for Bridget. We had an eye exam to confirm

diagnosis by Professor at Westmead - have you any dealings with him

in the past?

We have also a peadiatrician in Canberra - Dr Ian Hufton , and we also have the

referring opthamologist Dr Pluschke.

At present Im waiting to confirm if Bridget will have an " eyebrow suspension "

done by in the next 2-3 weeks. Have you had / heard of such a

procedure? We have some appointments next week and im going to ask for more

info.

Also - I noted that you have BPES in your family - do you know a geneticist we

can contact ? As we have yet no idea if Bridget is Type 1 or 2 as yet. I feel

like ive got a thousand questions to ask , but I will hold off for now , if its

ok I will contact you again ?

Regards

Catharine

> Rob <r.watson@...> wrote:

>

> Hi ,

>

> Welcome.

>

> > My 3 week old daughter has just been diagnosed with BPES. I

> > discovered

> > your website when researching the condition on the internet. Are

> > there

> > any other members living in Australia that can offer some advice on

> > doctors , specialists , cosmetic surgeons etc ?

>

> Yes. I'm in Syd-er-ney. Where are y'all? There is a database/survey

> within the forum of who lives where. Every now & then Shireen posts a

> summary of each major geography. Here is the Oz/NZ posting from January

> 22 this year:

> blepharophimosis/message/3777

> Of course, this is just showing those in the forum who have entered

> their details. There may be any number of watchers/lurkers who live

> nearby but we don't know about.

>

> I know of some BPES-experienced surgeons in Sydney and Melbourne. There

> may be others elsewhere.

>

> > Most people I talk to have never heard of BPES , so I feel like my

> > husband and I need to get as much information that will help us ask

> > better questions of the specialists and what we can expect in our

> > newborn baby, and in the years to come...

>

> BPES is sufficiently rare that most 'normal' doctors, paediatricians

> (don't get me started on THEM), and geneticists have never heard of it.

> Even most ophthalmic and plastic surgeons never see a real case in their

> lives.

>

> Being informed is absolutely the right approach. One thing we did was to

> look up journal articles (at the time, about 10 years ago, Medline was

> the only Internet resource) and pester our local (Westmead) children's

> hospital library to get them for us. These days, it's easier to find

> information online, but journal publishers are still generally quite

> parsimonious when it comes to making their material freely available.

>

> This post has links to good general info for starters:

> blepharophimosis/message/3790

>

> We shopped around for appropriately experienced medicos. Probably

> interviewed half a dozen or so (including interstate) before settling on

> one that we knew had done it before. BPES is sufficiently rare and

> " interesting " that surgeons seem keen to get their hands on a case,

> perhaps for their CVs; we give such shysters a wide berth. We always

> grill doctors thoroughly and without mercy.

>

> Rob W

[Guest guest]

Hello Catharine,

Welcome to the group. I`m Maree & live across the ditch (NZ) & my

daughter 19yrs, lives in Nth Qld - we both have BPES & the

only ones in the family. I love the name Bridget - it is s

second name!

I`m sure you are going to get all the help & info you need thanks to

Rob in Sydney ( & also this site of course)

We are just in the process of making contact with the genetics people

in Brisbane - we had the blood tests done here in NZ to show Type 1

or 2 so this info will be sent to Brissy & then we`ll take it from

there. This is to do with the POF issues rather than surgery issues.

Anyway, bye for now Catharine,

regards Maree

> >

> > Hi ,

> >

> > Welcome.

> >

> > > My 3 week old daughter has just been diagnosed with BPES. I

> > > discovered

> > > your website when researching the condition on the internet. Are

> > > there

> > > any other members living in Australia that can offer some

advice on

> > > doctors , specialists , cosmetic surgeons etc ?

> >

> > Yes. I'm in Syd-er-ney. Where are y'all? There is a

database/survey

> > within the forum of who lives where. Every now & then Shireen

posts a

> > summary of each major geography. Here is the Oz/NZ posting from

January

> > 22 this year:

> > blepharophimosis/message/3777

> > Of course, this is just showing those in the forum who have

entered

> > their details. There may be any number of watchers/lurkers who

live

> > nearby but we don't know about.

> >

> > I know of some BPES-experienced surgeons in Sydney and Melbourne.

There

> > may be others elsewhere.

> >

> > > Most people I talk to have never heard of BPES , so I feel like

my

> > > husband and I need to get as much information that will help us

ask

> > > better questions of the specialists and what we can expect in

our

> > > newborn baby, and in the years to come...

> >

> > BPES is sufficiently rare that most 'normal' doctors,

paediatricians

> > (don't get me started on THEM), and geneticists have never heard

of it.

> > Even most ophthalmic and plastic surgeons never see a real case

in their

> > lives.

> >

> > Being informed is absolutely the right approach. One thing we did

was to

> > look up journal articles (at the time, about 10 years ago,

Medline was

> > the only Internet resource) and pester our local (Westmead)

children's

> > hospital library to get them for us. These days, it's easier to

find

> > information online, but journal publishers are still generally

quite

> > parsimonious when it comes to making their material freely

available.

> >

> > This post has links to good general info for starters:

> > blepharophimosis/message/3790

> >

> > We shopped around for appropriately experienced medicos. Probably

> > interviewed half a dozen or so (including interstate) before

settling on

> > one that we knew had done it before. BPES is sufficiently rare and

> > " interesting " that surgeons seem keen to get their hands on a

case,

> > perhaps for their CVs; we give such shysters a wide berth. We

always

> > grill doctors thoroughly and without mercy.

> >

> > Rob W

>

[Guest guest]

Hello all,

We are another Sydney based family with a daugther who has BPES.

Antonia who is 19m was our first born and as it would have been for

you, it was a great shock to realise she had this condition, as

there is no history of it in our families.

Antonia sees at Cremorne (as we are in Mosman) and Anne

is her Geneticist at Sydney Childrens Hospital, Randwick.

Through Anne she has had her blood sent to Dr Paepe's Lab in Belgium

to confirm type I or II. Anne and her colleague Clement are great

and as we are very happy with them, would highly recommend her. (02

9382 1708)

, if you do find that Bridget is Type I, Anne will

recommend Dr. Neville also at SCHR, though that is a whole

other story, not needed to think about just yet.

On anther note, has suggested bringing Antonias surgery

forward to within the next 6 months and refered us to his brother in

law, at Chatswood Eye Institute.

We have meet with and it appears he has done operated on a

dozen or so, which is great. Though in saying that we have been

told to get other opinions and wondered if anyone can help out by

recommending surgeons?

Finally if there are a few of us about - lets get togther some time

soon!

If you would feel more comfortable chatting via email or phone,

please do so at collinhome@....

, Simon, Antonia & Bridget.

> > >

> > > Hi ,

> > >

> > > Welcome.

> > >

> > > > My 3 week old daughter has just been diagnosed with BPES. I

> > > > discovered

> > > > your website when researching the condition on the internet.

Are

> > > > there

> > > > any other members living in Australia that can offer some

> advice on

> > > > doctors , specialists , cosmetic surgeons etc ?

> > >

> > > Yes. I'm in Syd-er-ney. Where are y'all? There is a

> database/survey

> > > within the forum of who lives where. Every now & then Shireen

> posts a

> > > summary of each major geography. Here is the Oz/NZ posting

from

> January

> > > 22 this year:

> > >

blepharophimosis/message/3777

> > > Of course, this is just showing those in the forum who have

> entered

> > > their details. There may be any number of watchers/lurkers who

> live

> > > nearby but we don't know about.

> > >

> > > I know of some BPES-experienced surgeons in Sydney and

Melbourne.

> There

> > > may be others elsewhere.

> > >

> > > > Most people I talk to have never heard of BPES , so I feel

like

> my

> > > > husband and I need to get as much information that will help

us

> ask

> > > > better questions of the specialists and what we can expect

in

> our

> > > > newborn baby, and in the years to come...

> > >

> > > BPES is sufficiently rare that most 'normal' doctors,

> paediatricians

> > > (don't get me started on THEM), and geneticists have never

heard

> of it.

> > > Even most ophthalmic and plastic surgeons never see a real

case

> in their

> > > lives.

> > >

> > > Being informed is absolutely the right approach. One thing we

did

> was to

> > > look up journal articles (at the time, about 10 years ago,

> Medline was

> > > the only Internet resource) and pester our local (Westmead)

> children's

> > > hospital library to get them for us. These days, it's easier

to

> find

> > > information online, but journal publishers are still generally

> quite

> > > parsimonious when it comes to making their material freely

> available.

> > >

> > > This post has links to good general info for starters:

> > >

blepharophimosis/message/3790

> > >

> > > We shopped around for appropriately experienced medicos.

Probably

> > > interviewed half a dozen or so (including interstate) before

> settling on

> > > one that we knew had done it before. BPES is sufficiently rare

and

> > > " interesting " that surgeons seem keen to get their hands on a

> case,

> > > perhaps for their CVs; we give such shysters a wide berth. We

> always

> > > grill doctors thoroughly and without mercy.

> > >

> > > Rob W

> >

>

[Guest guest]

On Tue, 2006-08-29 at 03:15 +0000, nicoleacollin wrote:

> Hello all,

>

> We are another Sydney based family with a daugther who has BPES.

Ooh. Hello there. Welcome.

> On anther note, has suggested bringing Antonias surgery

> forward to within the next 6 months and refered us to his brother in

> law, at Chatswood Eye Institute.

Interesting. Won't do it himself? Perhaps his waiting list is much

longer than 's?

> We have meet with and it appears he has done operated on a

> dozen or so, which is great. Though in saying that we have been

> told to get other opinions and wondered if anyone can help out by

> recommending surgeons?

When looking for a surgeon for my son's second entropion correction

( M had already done some work on it), I interviewed ,

but ended up choosing Brett O'Donnell, who had had more paediatric

experience and proposed sounder techniques (i.e. no grafting). He has

worked with Mr Collin at Moorfields. Brett has chambers in St Leonards

opposite RNSH and somewhere in the Eastern suburbs. I'd definitely add

him to my list of folks to grill without mercy. Having said that,

M is still my, and my son's, main ophtho dude; he was trained by the guy

who did my surgeries ( ).

> Finally if there are a few of us about - lets get togther some time

> soon!

Indeed. My work number is 9911 2126.

Rob W