Re: update on the database - 29 people participated

[Guest guest]

Shireen,

Thank you all for the wonderful work you are doing.

Yes, a good idea to list the names of surgeons. We are in the queue for our daughter's operation which will be after 2 years maybe? Have no experienced doctors where we live, so may have to travel anywhere for our baby girl (Anushka).

Maybe a good idea to find out also by a questionnaire some more details (of child/parents) to know if there is a particular group, age, medication during pregnacy, history to find out how this could have been caused? Our own story (and some we know) have no known history but still our kids got it!!

Kind regards & greetings to all

Lata & Deepakshireenimohandes <andy.bowles@...> wrote:

Hi AllThank you to all the people who have participated. There are lots of new people who have joined the group, so I am repeating the instructions. (see end of this email).Do you think it would be worthwhile to have a database of surgeons? If you think it is a good idea, let me know and I will sort something out.ShireenInstructions for entering info on the database:-------------------------------------------------1. click here: blepharophimosis/2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on

blepharophimosis4. Now click on "Database", this is in the left of the screen, just a little below "Photos"5. Click on "BPES List"6. Now click on "Add Record"FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.If you are a parent of a child with BPES, then add one entry for your child, as if they were entering the information for themselves.Shireen

[Guest guest]

Shireenimohandes,

Excellant idea to put into action! My surgeon retired many years ago and may perhaps be deceased.

I have a question folks? What is the "specific name" of the test utilized in testing for BPES during prenancy?shireenimohandes <andy.bowles@...> wrote:

Hi AllThank you to all the people who have participated. There are lots of new people who have joined the group, so I am repeating the instructions. (see end of this email).Do you think it would be worthwhile to have a database of surgeons? If you think it is a good idea, let me know and I will sort something out.ShireenInstructions for entering info on the database:-------------------------------------------------1. click here: blepharophimosis/2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on

blepharophimosis4. Now click on "Database", this is in the left of the screen, just a little below "Photos"5. Click on "BPES List"6. Now click on "Add Record"FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.If you are a parent of a child with BPES, then add one entry for your child, as if they were entering the information for themselves.Shireen

[Guest guest]

Hi All

I have revised the table so that there is a column for surgery information.

I have filled in the data for myself.

Also, you should all be able to update your own records, so please try to do this and let me know if you experience any problems.

Lata and Deepak - I believe that based on what I have read and researched by talking to doctors, nobody has done anything to cause a child to have "BPES Syndrome". However, I know that some good research is being done, and we may find out a lot more in the next few months.

I am happy to arrange a questionnaire, but I wonder if this may cause some anguish amongst parents. They may begin to wonder if they are responsible. So far, in all of what I have read, there has been no indication - not even a hint - that something was done to make a child have BPES. What is well known is that people who have BPES can pass it on to their children (50% chance of this happening).

I have got an idea. If people would like me to, I can gather a whole bunch of questions from subscribers to this group, related to genetics and write to or consult a genetics specialist in this area. I could then publish the response in our group.

If this turns out to be a good way of getting info and sharing it with people, then maybe we can extend the method to research information about surgery. (that's a bit harder though, because the appearance and severity of the symptoms is so varied amongst us all, as is evident from the many wonderful photos that people have posted).

What do people think?

Shireen

-----Original Message-----From: Deepak Kamath [mailto:deepak953@...]Sent: 11 March 2004 09:59blepharophimosis Subject: Re: blepharophimosis update on the database - 29 people participated

Shireen,

Thank you all for the wonderful work you are doing.

Yes, a good idea to list the names of surgeons. We are in the queue for our daughter's operation which will be after 2 years maybe? Have no experienced doctors where we live, so may have to travel anywhere for our baby girl (Anushka).

Maybe a good idea to find out also by a questionnaire some more details (of child/parents) to know if there is a particular group, age, medication during pregnacy, history to find out how this could have been caused? Our own story (and some we know) have no known history but still our kids got it!!

Kind regards & greetings to all

Lata & Deepakshireenimohandes <andy.bowles@...> wrote:

Hi AllThank you to all the people who have participated. There are lots of new people who have joined the group, so I am repeating the instructions. (see end of this email).Do you think it would be worthwhile to have a database of surgeons? If you think it is a good idea, let me know and I will sort something out.ShireenInstructions for entering info on the database:-------------------------------------------------1. click here: blepharophimosis/2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on blepharophimosis4. Now click on "Database", this is in the left of the screen, just a little below "Photos"5. Click on "BPES List"6. Now click on "Add Record"FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.If you are a parent of a child with BPES, then add one entry for your child, as if they were entering the information for themselves.Shireen

[Guest guest]

Shireen,

I think a database of surgeons (of course the ones people like!) would be wonderful!!! It seems that everyone keeps asking about who did each others surgeries. I haven't added to the database but I will do so soon for our daughter . Thank you so much for all you do!!!

-----Original Message-----From: shireenimohandes [mailto:andy.bowles@...] Sent: Thursday, March 11, 2004 4:25 AMblepharophimosis Subject: blepharophimosis update on the database - 29 people participatedHi AllThank you to all the people who have participated. There are lots of new people who have joined the group, so I am repeating the instructions. (see end of this email).Do you think it would be worthwhile to have a database of surgeons? If you think it is a good idea, let me know and I will sort something out.ShireenInstructions for entering info on the database:-------------------------------------------------1. click here: blepharophimosis/2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on blepharophimosis4. Now click on "Database", this is in the left of the screen, just a little below "Photos"5. Click on "BPES List"6. Now click on "Add Record"FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.If you are a parent of a child with BPES, then add one entry for your child, as if they were entering the information for themselves.Shireen

[Guest guest]

I think a database of surgeons would be GREAT! It would be an

excellent starting point for people researching such specific surgery.

Sari

> Do you think it would be worthwhile to have a database of surgeons?

> If you think it is a good idea, let me know and I will sort something

> out.

>

> Shireen

>

>

[Guest guest]

> I have got an idea. If people would like me to, I can gather a whole bunch

> of questions from subscribers to this group, related to genetics and write

> to or consult a genetics specialist in this area. I could then publish the

> response in our group.

A most spiffing and capital suggestion. Here a question to start the

ball rolling.

" Some genetic counsellors say there's a 50% chance of passing on BPEI,

yet some of the published genetic research claims BPEI has 100% (Type I)

or 96.5% (Type II) " penetrance " . Are these claims referring to the same

thing and if so aren't they contradictory? "

Rob

[Guest guest]

Hi Rob,

Care to share your source material from which these statements are made?

Thank You

son?Rob <rawatson@...> wrote:

> I have got an idea. If people would like me to, I can gather a whole bunch> of questions from subscribers to this group, related to genetics and write> to or consult a genetics specialist in this area. I could then publish the> response in our group.A most spiffing and capital suggestion. Here a question to start the ball rolling."Some genetic counsellors say there's a 50% chance of passing on BPEI, yet some of the published genetic research claims BPEI has 100% (Type I) or 96.5% (Type II) "penetrance". Are these claims referring to the same thing and if so aren't they contradictory?"Rob

[Guest guest]

Shireen,

Heres 2 pictures for you to reduce and enter in our photo section.

They are of me...... son and taken this February.

I want to thank you Shireen for all your efforts and contributions.Andy Bowles & Shireen Mohandes <andy.bowles@...> wrote:

Hi All

I have revised the table so that there is a column for surgery information.

I have filled in the data for myself.

Also, you should all be able to update your own records, so please try to do this and let me know if you experience any problems.

Lata and Deepak - I believe that based on what I have read and researched by talking to doctors, nobody has done anything to cause a child to have "BPES Syndrome". However, I know that some good research is being done, and we may find out a lot more in the next few months.

I am happy to arrange a questionnaire, but I wonder if this may cause some anguish amongst parents. They may begin to wonder if they are responsible. So far, in all of what I have read, there has been no indication - not even a hint - that something was done to make a child have BPES. What is well known is that people who have BPES can pass it on to their children (50% chance of this happening).

I have got an idea. If people would like me to, I can gather a whole bunch of questions from subscribers to this group, related to genetics and write to or consult a genetics specialist in this area. I could then publish the response in our group.

If this turns out to be a good way of getting info and sharing it with people, then maybe we can extend the method to research information about surgery. (that's a bit harder though, because the appearance and severity of the symptoms is so varied amongst us all, as is evident from the many wonderful photos that people have posted).

What do people think?

Shireen

-----Original Message-----From: Deepak Kamath [mailto:deepak953@...]Sent: 11 March 2004 09:59blepharophimosis Subject: Re: blepharophimosis update on the database - 29 people participated

Shireen,

Thank you all for the wonderful work you are doing.

Yes, a good idea to list the names of surgeons. We are in the queue for our daughter's operation which will be after 2 years maybe? Have no experienced doctors where we live, so may have to travel anywhere for our baby girl (Anushka).

Maybe a good idea to find out also by a questionnaire some more details (of child/parents) to know if there is a particular group, age, medication during pregnacy, history to find out how this could have been caused? Our own story (and some we know) have no known history but still our kids got it!!

Kind regards & greetings to all

Lata & Deepakshireenimohandes <andy.bowles@...> wrote:

Hi AllThank you to all the people who have participated. There are lots of new people who have joined the group, so I am repeating the instructions. (see end of this email).Do you think it would be worthwhile to have a database of surgeons? If you think it is a good idea, let me know and I will sort something out.ShireenInstructions for entering info on the database:-------------------------------------------------1. click here: blepharophimosis/2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on

blepharophimosis4. Now click on "Database", this is in the left of the screen, just a little below "Photos"5. Click on "BPES List"6. Now click on "Add Record"FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.If you are a parent of a child with BPES, then add one entry for your child, as if they were entering the information for themselves.Shireen

[Guest guest]

HI Rob,

My name is erin roberts and have a daughter julie who is 6

months with blep. Today i met with mark and fiona from parkes in nsw,

who meet with you yesterday. their son joshua had his operation last

week! it was great to meet someone who is going through the same

thing. They have told us to meet with you so find out more.

We live in northmead, and would be great to get to meet you. Please

reply soon

thanks

--- In blepharophimosis , anna <annaloretta17692@y...>

wrote:

[Guest guest]

anna wrote:

> Hi Rob,

> Care to share your source material from which these statements are made?

My source material for the 50% chance is (1) Professor Silense (sp.?) of

the genetic counselling service at the Royal andra Hospital for

Children (in Camperdown in those days, now in Westmead), (2) my own

surgeon, , now retired, and (3) Shireen's post to the forum

the other day.

My source material for the 100/96.5% chance is mainly (1) Oley &

Baraitser [J Med Genet 1988;25;47-51], whose paper I've mentioned often

in my posts. They in turn refer to a paper by Zlotogera, et al [Am J Hum

Genet 1983;35;1020-7] that I don't have, and also (2) Finley, Callahan &

[Am J Med Genet 1990;36;414-417] who claim " with high

penetrance " , and (3) Elliot & Wallace [brit J Plas Surg 1986;39;244-248]

who I've also mentioned often, who claim " with a very high penetrance " .

No doubt there are other papers too.

Maybe it depends on whether one considers 50% to be 'high' or 'very

high' penetrance?

> Thank You

You're welcome.

> son?

Why ask me? I hope it's you! :-)

Rob

>

> Rob <rawatson@...> wrote:

>> A most spiffing and capital suggestion. Here a question to start the

>> ball rolling.

>>

>> " Some genetic counsellors say there's a 50% chance of passing on BPEI,

>> yet some of the published genetic research claims BPEI has 100% (Type I)

>> or 96.5% (Type II) " penetrance " . Are these claims referring to the same

>> thing and if so aren't they contradictory? "

>>

>> Rob

[Guest guest]

WOOHOOOOOOO ROB!

Thank you for sharing. Now I ask can you please post the web sites available on thoes documents available so I can read them? Also others NEW into the room may find them very interesting.

On Finley, Callahan .and document. I wonder if thats not my surgon "Alston Callahan's son Micheal"?

Has been told Alston Callahan documented me in books and papers (1960's) he wrote long ago. Am not certain tho.

Good question Rob..........I have been wondering the same thing!

son of Washington State

Rob <rawatson@...> wrote:

anna wrote:> Hi Rob,> Care to share your source material from which these statements are made? My source material for the 50% chance is (1) Professor Silense (sp.?) of the genetic counselling service at the Royal andra Hospital for Children (in Camperdown in those days, now in Westmead), (2) my own surgeon, , now retired, and (3) Shireen's post to the forum the other day.My source material for the 100/96.5% chance is mainly (1) Oley & Baraitser [J Med Genet 1988;25;47-51], whose paper I've mentioned often in my posts. They in turn refer to a paper by Zlotogera, et al [Am J Hum Genet 1983;35;1020-7] that I don't have, and also (2) Finley, Callahan & [Am J Med Genet 1990;36;414-417] who claim "with high penetrance", and (3) Elliot & Wallace [brit J Plas Surg 1986;39;244-248]

who I've also mentioned often, who claim "with a very high penetrance". No doubt there are other papers too.Maybe it depends on whether one considers 50% to be 'high' or 'very high' penetrance?> Thank YouYou're welcome.> son?Why ask me? I hope it's you! :-)Rob> > Rob <rawatson@...> wrote:>> A most spiffing and capital suggestion. Here a question to start the >> ball rolling.>> >> "Some genetic counsellors say there's a 50% chance of passing on BPEI, >> yet some of the published genetic research claims BPEI has 100% (Type I) >> or 96.5% (Type II) "penetrance". Are these claims referring to the same >> thing and if so aren't they contradictory?">> >> Rob

[Guest guest]

Hello Deepak and Lata,

Are you still taking your baby to Kerala India to Hospital in April?

son &n

bsp; Deepak Kamath <deepak953@...> wrote:

Shireen,

Thank you all for the wonderful work you are doing.

Yes, a good idea to list the names of surgeons. We are in the queue for our daughter's operation which will be after 2 years maybe? Have no experienced doctors where we live, so may have to travel anywhere for our baby girl (Anushka).

Maybe a good idea to find out also by a questionnaire some more details (of child/parents) to know if there is a particular group, age, medication during pregnacy, history to find out how this could have been caused? Our own story (and some we know) have no known history but still our kids got it!!

Kind regards & greetings to all

Lata & Deepakshireenimohandes <andy.bowles@...> wrote:

Hi AllThank you to all the people who have participated. There are lots of new people who have joined the group, so I am repeating the instructions. (see end of this email).Do you think it would be worthwhile to have a database of surgeons? If you think it is a good idea, let me know and I will sort something out.ShireenInstructions for entering info on the database:-------------------------------------------------1. click here: blepharophimosis/2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on

blepharophimosis4. Now click on "Database", this is in the left of the screen, just a little below "Photos"5. Click on "BPES List"6. Now click on "Add Record"FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.If you are a parent of a child with BPES, then add one entry for your child, as if they were entering the information for themselves.Shireen

[Guest guest]

anna wrote:

> WOOHOOOOOOO ROB! Thank you for sharing. Now I ask can you please post

> the web sites available on thoes documents available so I can read

> them? Also others NEW into the room may find them very interesting.

If only it was that simple. I only have the documents on paper. There

may be web sites where hard copies of the documents can be ordered (they

take your credit card number, print a copy, and mail it to you). Full

text online journal papers are very rare indeed - intellectual property

and all that, y'see. There are sites that will let you search for papers

and will provide abstracts (summaries) and bibliographic details, etc,

but that's all I've ever found.

Having said that, I'll now make a liar of myself by doing a quick Google

and finding a different but very heavy genetics article on BPEI by Oley

& Baraitser:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=OMIM & dopt=Detailed\

& tmpl=dispomimTemplate & list_uids=110100#110100_Reference53

....which links to the Zlotogera article (but not its text):

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & dopt=Abstra\

ct & list_uids=6613996

....among MANY others, including their original article I refer below

(again, not its text unfortunately), for which there's a teaser (again,

no text) here:

http://jmg.bmjjournals.com/content/vol25/issue1/index.shtml

No sign of Elliot & Wallace, according to Google.

Here's Finley, Callahan, :

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & dopt=Abstra\

ct & list_uids=2389797

(an abstract etc but, alas, no full text)

The Pubmed Browser (http://www.pmbrowser.info/pubmed.html) is also a

great place to start. It even has a nifty Java application that

graphically links related articles, allows zooming-in, etc.

> On Finley, Callahan .and document. I wonder if thats not my

> surgon " Alston Callahan's son Micheal " ?

Actually, it's Alston's self, Alston, rather than his son.

> Has been told Alston Callahan documented me in books and papers

> (1960's) he wrote long ago. Am not certain tho.

I have another paper of his, dated 1973: " Surgical Correction of the

Blepharophimosis Syndromes " in Transactions of the American Academy of

Ophthalmology and Otolaryngology [try saying THAT after a few beers],

Volume 72, Sept-Oct 1973, OP 687-695. Hey - are you the cutey on page

692? Or the one on page 693? Find out thusly: " Reprint requests to: 903

S 21st St, Birmingham, Ala, 35205 " .

> son of Washington State

Rob of New South Wales state.

[Guest guest]

Rob........thank you once again,

Yep the land of abstracts!.........If our families ever meet the "pints O Guiness" are on me! well not on me........ but you know what I mean. I will buy you a couple beers for all your brain cell sharing!

son Washington State

Rob <rawatson@...> wrote:

anna wrote:> WOOHOOOOOOO ROB! Thank you for sharing. Now I ask can you please post> the web sites available on thoes documents available so I can read> them? Also others NEW into the room may find them very interesting.If only it was that simple. I only have the documents on paper. There may be web sites where hard copies of the documents can be ordered (they take your credit card number, print a copy, and mail it to you). Full text online journal papers are very rare indeed - intellectual property and all that, y'see. There are sites that will let you search for papers and will provide abstracts (summaries) and bibliographic details, etc, but that's all I've ever found.Having said that, I'll now make a liar of myself by doing a quick Google and finding a different but very heavy genetics article on BPEI by

Oley & Baraitser:http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=OMIM & dopt=Detailed & tmpl=dispomimTemplate & list_uids=110100#110100_Reference53...which links to the Zlotogera article (but not its text):http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & dopt=Abstract & list_uids=6613996...among MANY others, including their original article I refer below (again, not its text unfortunately), for which there's a teaser (again, no text) here:http://jmg.bmjjournals.com/content/vol25/issue1/index.shtmlNo sign of Elliot &

Wallace, according to Google.Here's Finley, Callahan, :http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & dopt=Abstract & list_uids=2389797(an abstract etc but, alas, no full text)The Pubmed Browser (http://www.pmbrowser.info/pubmed.html) is also a great place to start. It even has a nifty Java application that graphically links related articles, allows zooming-in, etc.> On Finley, Callahan .and document. I wonder if thats not my> surgon "Alston Callahan's son Micheal"?Actually, it's Alston's self, Alston, rather than his son.> Has been told Alston Callahan documented me in books and papers> (1960's) he wrote long ago. Am not certain tho.I have another paper of his, dated 1973:

"Surgical Correction of the Blepharophimosis Syndromes" in Transactions of the American Academy of Ophthalmology and Otolaryngology [try saying THAT after a few beers], Volume 72, Sept-Oct 1973, OP 687-695. Hey - are you the cutey on page 692? Or the one on page 693? Find out thusly: "Reprint requests to: 903 S 21st St, Birmingham, Ala, 35205".> son of Washington StateRob of New South Wales state.