Re: Genetic testing for BPES in the U.S.????

[Guest guest]

Can someone explain too why you would do the genetic

testing? I'm a newbie mom to this and don't know what

the genetic testing shows.

Thank you!

April Eisele

--- randigyrlpi <randigyrlpi@...> wrote:

> Has anyone here ever had genetic testing done to

> determine or confirm

> diagnosis??? And if so, where? I went to Cincinnati

> Children's

> Hospital and they are saying this kind of testing

> (the FOXL2 gene) can

> only be done outside of the U.S. and that it is very

> expensive.

>

> Please advise.

>

> Thank you, Rae Ann

>

>

>

[Guest guest]

Testing shows information about the FOXL2 gene. 70% of those diagnosed with BPES have a mutation of this gene.april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >

[Guest guest]

Hi April,

I live in Canada (here the testing is free) and recently had the testing done, I am just waiting for the results. My blood was sent to Belgium, I was told that was the only place doing the genetic testing. It will show whether a person is Type I or Type II (whether their is infertility or not). I have always had infertility issues and just want to know for my own piece of mind whether it is as a result of my BPES.

april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >

[Guest guest]

Hi ,

Thank you for the information. Is Type II possible in

males? Or just females?

Thank you!

April

--- Kati Graw <katigraw@...> wrote:

> Hi April,

>

> I live in Canada (here the testing is free) and

> recently had the testing done, I am just waiting for

> the results. My blood was sent to Belgium, I was

> told that was the only place doing the genetic

> testing. It will show whether a person is Type I or

> Type II (whether their is infertility or not). I

> have always had infertility issues and just want to

> know for my own piece of mind whether it is as a

> result of my BPES.

>

>

> april Eisele <aprileisele@...> wrote:

> Can someone explain too why you would do the genetic

> testing? I'm a newbie mom to this and don't know

> what

> the genetic testing shows.

> Thank you!

> April Eisele

>

> --- randigyrlpi <randigyrlpi@...> wrote:

>

> > Has anyone here ever had genetic testing done to

> > determine or confirm

> > diagnosis??? And if so, where? I went to

> Cincinnati

> > Children's

> > Hospital and they are saying this kind of testing

> > (the FOXL2 gene) can

> > only be done outside of the U.S. and that it is

> very

> > expensive.

> >

> > Please advise.

> >

> > Thank you, Rae Ann

> >

> >

> >

>

>

>

>

[Guest guest]

Hi Rae Ann,

Does the mutation of that gene mean something

different in regards to treatment, etc.? Sorry -I'm

trying to educate myself on all of this! Thank you!

April

--- Rae Ann <randigyrlpi@...> wrote:

> Testing shows information about the FOXL2 gene. 70%

> of those diagnosed with BPES have a mutation of this

> gene.

>

> april Eisele <aprileisele@...> wrote:Can

> someone explain too why you would do the genetic

> testing? I'm a newbie mom to this and don't know

> what

> the genetic testing shows.

> Thank you!

> April Eisele

>

> --- randigyrlpi <randigyrlpi@...> wrote:

>

> > Has anyone here ever had genetic testing done to

> > determine or confirm

> > diagnosis??? And if so, where? I went to

> Cincinnati

> > Children's

> > Hospital and they are saying this kind of testing

> > (the FOXL2 gene) can

> > only be done outside of the U.S. and that it is

> very

> > expensive.

> >

> > Please advise.

> >

> > Thank you, Rae Ann

> >

> >

> >

>

>

>

>

[Guest guest]

Not sure of that, but confirmation of the condition can be done by looking at that gene.april Eisele <aprileisele@...> wrote:

Hi Rae Ann,Does the mutation of that gene mean somethingdifferent in regards to treatment, etc.? Sorry -I'mtrying to educate myself on all of this! Thank you!April--- Rae Ann <randigyrlpi@...> wrote:> Testing shows information about the FOXL2 gene. 70%> of those diagnosed with BPES have a mutation of this> gene.> > april Eisele <aprileisele@...> wrote:Can> someone explain too why you would do the genetic> testing? I'm a newbie mom to this and don't know> what> the genetic testing shows.> Thank you!> April Eisele> > --- randigyrlpi <randigyrlpi@...> wrote:> > > Has anyone here ever had genetic testing done to> > determine or confirm > > diagnosis??? And if

so, where? I went to> Cincinnati> > Children's > > Hospital and they are saying this kind of testing> > (the FOXL2 gene) can > > only be done outside of the U.S. and that it is> very> > expensive.> > > > Please advise.> > > > Thank you, Rae Ann > > > > > > > > > >

[Guest guest]

Hi April,

It is only possible in females.

april Eisele <aprileisele@...> wrote:

Hi ,Thank you for the information. Is Type II possible inmales? Or just females?Thank you!April--- Kati Graw <katigraw@...> wrote:> Hi April,> > I live in Canada (here the testing is free) and> recently had the testing done, I am just waiting for> the results. My blood was sent to Belgium, I was> told that was the only place doing the genetic> testing. It will show whether a person is Type I or> Type II (whether their is infertility or not). I> have always had infertility issues and just want to> know for my own piece of mind whether it is as a> result of my BPES.> > > april Eisele <aprileisele@...> wrote:> Can someone explain too why you would do the genetic>

testing? I'm a newbie mom to this and don't know> what> the genetic testing shows.> Thank you!> April Eisele> > --- randigyrlpi <randigyrlpi@...> wrote:> > > Has anyone here ever had genetic testing done to> > determine or confirm > > diagnosis??? And if so, where? I went to> Cincinnati> > Children's > > Hospital and they are saying this kind of testing> > (the FOXL2 gene) can > > only be done outside of the U.S. and that it is> very> > expensive.> > > > Please advise.> > > > Thank you, Rae Ann > > > > > > > > > >

[Guest guest]

Can you give me more information as to who you went through for testing (in Canada & Belgium)? We are willing to travel to Canada if necessary.

Thank you,

Rae Ann Kati Graw <katigraw@...> wrote:

Hi April,

I live in Canada (here the testing is free) and recently had the testing done, I am just waiting for the results. My blood was sent to Belgium, I was told that was the only place doing the genetic testing. It will show whether a person is Type I or Type II (whether their is infertility or not). I have always had infertility issues and just want to know for my own piece of mind whether it is as a result of my BPES.

april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >

[Guest guest]

We sent our blood to Dr. Brent Small at University of California, Jules Eye Institute. It was for an overall study so we will probably never see any individual feedback. We would love to be tested too. We live near the border of Canada.

I did, however, find through a pediatric endocrinologist in NYC Cornell Hospital that our daughter does have healthy eggs. She is three now, this test was last year. I don't know however if she will have premature menopause as is the case in one of the types of BPES.

Pam

[Guest guest]

HI

May I recommend that you take a look at this site:

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

I think it contains much of the information that you want, along with contact names.

Shireen

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of Rae Ann Sent: 02 June 2005 21:45blepharophimosis Subject: Re: blepharophimosis Genetic testing for BPES in the U.S.????

Can you give me more information as to who you went through for testing (in Canada & Belgium)? We are willing to travel to Canada if necessary.

Thank you,

Rae Ann Kati Graw <katigraw@...> wrote:

Hi April,

I live in Canada (here the testing is free) and recently had the testing done, I am just waiting for the results. My blood was sent to Belgium, I was told that was the only place doing the genetic testing. It will show whether a person is Type I or Type II (whether their is infertility or not). I have always had infertility issues and just want to know for my own piece of mind whether it is as a result of my BPES.

april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >

[Guest guest]

That is the same thing we were told. UAB Genetics clinic in Birmingham al. told us the blood had to be sent to Belgium at a cost of about $800.00 for the child and 400 per adult.

robertrandigyrlpi <randigyrlpi@...> wrote:

Has anyone here ever had genetic testing done to determine or confirm diagnosis??? And if so, where? I went to Cincinnati Children's Hospital and they are saying this kind of testing (the FOXL2 gene) can only be done outside of the U.S. and that it is very expensive.Please advise.Thank you, Rae Ann

[Guest guest]

Hey April,

We had Kenley tested for the same reason, to see if they could determine type I or II. If it is type I there become some real questions about the female organs.

Kati Graw <katigraw@...> wrote:

Hi April,

I live in Canada (here the testing is free) and recently had the testing done, I am just waiting for the results. My blood was sent to Belgium, I was told that was the only place doing the genetic testing. It will show whether a person is Type I or Type II (whether their is infertility or not). I have always had infertility issues and just want to know for my own piece of mind whether it is as a result of my BPES.

april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >

[Guest guest]

We were told if Kenley was type one they would need to take her first few eggs due to early menopause. Plus the first few eggs do not seem to run as high of a risk of the adnormality. obriengroup@... wrote:

We sent our blood to Dr. Brent Small at University of California, Jules Eye Institute. It was for an overall study so we will probably never see any individual feedback. We would love to be tested too. We live near the border of Canada.

I did, however, find through a pediatric endocrinologist in NYC Cornell Hospital that our daughter does have healthy eggs. She is three now, this test was last year. I don't know however if she will have premature menopause as is the case in one of the types of BPES.

Pam __________________________________________________

[Guest guest]

-

Did you send the bloodwork to Belgium? Lancaster <kenleyejp@...> wrote:

Hey April,

We had Kenley tested for the same reason, to see if they could determine type I or II. If it is type I there become some real questions about the female organs.

Kati Graw <katigraw@...> wrote:

Hi April,

I live in Canada (here the testing is free) and recently had the testing done, I am just waiting for the results. My blood was sent to Belgium, I was told that was the only place doing the genetic testing. It will show whether a person is Type I or Type II (whether their is infertility or not). I have always had infertility issues and just want to know for my own piece of mind whether it is as a result of my BPES.

april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >

[Guest guest]

Okay, I guess I need to do some more reading so I

understand all of this! Thank you so much for sharing

your knowledge. I know Micah had genetic testing done

while he was still in Korea and it apparently came

back normal.

Micah had his first appt. in the U.S. yesterday with

the occul. surgeon. He was very impressed with the

results from Micah's surgery. I have attached a

picture of him before and after - I am still amazed at

what they did with one surgery. He sees the pediatric

opthalmologist on the 21st.

April Eisele

Wife to Jon

Mommy to three little blessings from Korea:

Mira, Micah & Misha

[Guest guest]

Hello All,

I just wanted to reply to this...so there is no misunderstanding. The testing is free in Canada for Canadian Residents. It would not be free for an American or any other country's residents.

Thanks,

Rae Ann <randigyrlpi@...> wrote:

Can you give me more information as to who you went through for testing (in Canada & Belgium)? We are willing to travel to Canada if necessary.

Thank you,

Rae Ann Kati Graw <katigraw@...> wrote:

Hi April,

I live in Canada (here the testing is free) and recently had the testing done, I am just waiting for the results. My blood was sent to Belgium, I was told that was the only place doing the genetic testing. It will show whether a person is Type I or Type II (whether their is infertility or not). I have always had infertility issues and just want to know for my own piece of mind whether it is as a result of my BPES.

april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >

[Guest guest]

How beautiful are they??? OMG!!!

Thank you for sharing!!!!april Eisele <aprileisele@...> wrote:

Okay, I guess I need to do some more reading so Iunderstand all of this! Thank you so much for sharingyour knowledge. I know Micah had genetic testing donewhile he was still in Korea and it apparently cameback normal. Micah had his first appt. in the U.S. yesterday withthe occul. surgeon. He was very impressed with theresults from Micah's surgery. I have attached apicture of him before and after - I am still amazed atwhat they did with one surgery. He sees the pediatricopthalmologist on the 21st. April EiseleWife to JonMommy to three little blessings from Korea:Mira, Micah & Misha

[Guest guest]

This is Gwyneth before surgery and after.

Her first surgery was at one year old, now she is three.

Your son looks gorgeous!

[Guest guest]

She is so cute!

April

--- obriengroup@... wrote:

> This is Gwyneth before surgery and after.

>

> Her first surgery was at one year old, now she is

> three.

>

> Your son looks gorgeous!

>

>

>

>

>

>

>

[Guest guest]

We are waiting on all the final information from Belgium to get finished. So yes we are just as soon as all the paper work is done.Rae Ann <randigyrlpi@...> wrote:

-

Did you send the bloodwork to Belgium? Lancaster <kenleyejp@...> wrote:

Hey April,

We had Kenley tested for the same reason, to see if they could determine type I or II. If it is type I there become some real questions about the female organs.

__________________________________________________

[Guest guest]

SHE A BEAUITFUL LIL GIRL....~

[Guest guest]

Hi to you all:

My son Dakota was born with bpes. And I was wondering if you knew where in canada the testing is done. I'm from Canada myself. Moose Jaw, sk. Dakota has had 2 surgeries, and his right eye has dropped again. They told me at the last app't the surgeon said his right eye wasn't an emergency for surgery. He was suppose to have it done in June, now not till Sept. He tilts his head back and to the side because of his eyelid dropping. It was frustrating for me, when the doctor felt that way. I would like to find another doctor. The wide bridge at the top of the nose area has never had surgery , and his eye's pull out at the bottom because of it. He has know tear ducts. So his eye's are always dry. Lots of liquid drops. Would you please give me another doctor's name in Canada. And the testing site. Thank you Kati Graw <katigraw@...> wrote:

Hello All,

I just wanted to reply to this...so there is no misunderstanding. The testing is free in Canada for Canadian Residents. It would not be free for an American or any other country's residents.

Thanks,

Rae Ann <randigyrlpi@...> wrote:

Can you give me more information as to who you went through for testing (in Canada & Belgium)? We are willing to travel to Canada if necessary.

Thank you,

Rae Ann Kati Graw <katigraw@...> wrote:

Hi April,

I live in Canada (here the testing is free) and recently had the testing done, I am just waiting for the results. My blood was sent to Belgium, I was told that was the only place doing the genetic testing. It will show whether a person is Type I or Type II (whether their is infertility or not). I have always had infertility issues and just want to know for my own piece of mind whether it is as a result of my BPES.

april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >

[Guest guest]

Hi , We (my son and I both have BPES) live in Ontario and we see a doctor in Toronto name Dr. Pashby. As per the testing I think you misunderstood me, the testing is NOT done in Canada it is done in Belgium. However the Ontario Health Insurance paid for the DNA\Bloodwork to be sent to Belgium. I got my family doctor to refer me to a genetic counsellor first and she in turn wrote OHIP to see if the tests would be covered and they were.

Feel free to email me directly with any other info you may need.

Tessman <brendatessman@...> wrote:

Hi to you all:

My son Dakota was born with bpes. And I was wondering if you knew where in canada the testing is done. I'm from Canada myself. Moose Jaw, sk. Dakota has had 2 surgeries, and his right eye has dropped again. They told me at the last app't the surgeon said his right eye wasn't an emergency for surgery. He was suppose to have it done in June, now not till Sept. He tilts his head back and to the side because of his eyelid dropping. It was frustrating for me, when the doctor felt that way. I would like to find another doctor. The wide bridge at the top of the nose area has never had surgery , and his eye's pull out at the bottom because of it. He has know tear ducts. So his eye's are always dry. Lots of liquid drops. Would you please give me another doctor's name in Canada. And the testing site. Thank you Kati Graw <katigraw@...> wrote:

Hello All,

I just wanted to reply to this...so there is no misunderstanding. The testing is free in Canada for Canadian Residents. It would not be free for an American or any other country's residents.

Thanks,

Rae Ann <randigyrlpi@...> wrote:

Can you give me more information as to who you went through for testing (in Canada & Belgium)? We are willing to travel to Canada if necessary.

Thank you,

Rae Ann Kati Graw <katigraw@...> wrote:

Hi April,

I live in Canada (here the testing is free) and recently had the testing done, I am just waiting for the results. My blood was sent to Belgium, I was told that was the only place doing the genetic testing. It will show whether a person is Type I or Type II (whether their is infertility or not). I have always had infertility issues and just want to know for my own piece of mind whether it is as a result of my BPES.

april Eisele <aprileisele@...> wrote:

Can someone explain too why you would do the genetictesting? I'm a newbie mom to this and don't know whatthe genetic testing shows.Thank you!April Eisele--- randigyrlpi <randigyrlpi@...> wrote:> Has anyone here ever had genetic testing done to> determine or confirm > diagnosis??? And if so, where? I went to Cincinnati> Children's > Hospital and they are saying this kind of testing> (the FOXL2 gene) can > only be done outside of the U.S. and that it is very> expensive.> > Please advise.> > Thank you, Rae Ann > > >