BPES Genetic Testing in the United States

[Guest guest]

I have recently found out that Childrens Hospital of Philadelphia has

been approved and certified to do genetic testing for BPES. My

daughter had her first surgery there 15 months ago and will be going

back for the second surgery in the spring. We have not done the

testing yet but are looking into it.

[Guest guest]

Hi everyone,My Daughter was the first patient to be tested at Childrens Hospital of Philadelphia. It took about a month to get the results back. I have yet to speak with anyone from the genetics department to go over her test results. I was told she has a mutation never seen before but since many BPES patients have never had a genetics test I am sure there are others that are similar to her. Nina TancrediOn Jan 11, 2009, at 3:41 PM, lzdesigngirl wrote:I have recently found out that Childrens Hospital of Philadelphia has been approved and certified to do genetic testing for BPES. My daughter had her first surgery there 15 months ago and will be going back for the second surgery in the spring. We have not done the testing yet but are looking into it.

[Guest guest]

>

> > I have recently found out that Childrens Hospital of Philadelphia has

> > been approved and certified to do genetic testing for BPES. My

> > daughter had her first surgery there 15 months ago and will be going

> > back for the second surgery in the spring. We have not done the

> > testing yet but are looking into it.

> >

> >

> >

>

Hi Ms. Tancredi,

I have BPES and my young son has it also. He was born at UofPA

Hospital, or HUP and he is seen by Dr. Katowitz at CHoP. My son is 8

now and also has micro-ophthalmia of the left eye. He has had many

surgeries at CHoP.

Finding this site and finding others is very emotional right now. My

whole life it seemed like I was the only one and then my son and myself.

We had some genetic testing at CHoP and at Albert Einstein Medical Center.

I grew up in a little town outside Phila. called Media, PA and the

name Tancredi seems very familiar, but I don't remember why at the

moment. Somebody in politics, maybe?

Anyway, I wish you all the best and especially with the upcoming

surgery. Hook up with Ivy the OR nurse. She's great - the best!

Take care,

Marty Holahan

[Guest guest]

Hi Nina,

My son, , also had the genetic testing done at CHOP. He was the fourth patient there to have the test, and his results yielded a 'never been seen before' mutation as well. We got a lot of information on BPES from the test, but it was generic in nature and not really specific to my son's particular case.

Ivy, the nurse practitioner there, said that all the results have come back that way because they don't have a huge database of test results with which to compare. As more people get the test done, they'll be able to better identify/explain the gene mutations. She said it would take years to accomplish this, but it is definitely a step in the right direction. We agree.

We were happy to pioneer, and are hopeful that after my husband and I get our genetic test results back, we'll get more substantial info. Neither he nor I, or anyone in our large families, has BPES, and we're curious if our 'combo' of genes is related to our son's BPES. I'll be sure to post results.

I have recently found out that Childrens Hospital of Philadelphia has been approved and certified to do genetic testing for BPES. My daughter had her first surgery there 15 months ago and will be going back for the second surgery in the spring. We have not done the testing yet but are looking into it.