My daughter was just diagnosed...now what?


#1

My nine month old daughter was just diagnosed with this condition. They are not sure if it Type I or II at the moment and are still running rests etc. Just wanted some extra support from some seasoned families out there, and to know what to expect as my family begins the process of diagnosing, testing, and perhaps surgey.


#2

Hi
Sorry I don’t know your name, my name is Shireen, I live in London England,
and I am 47 years old. I am the only person in my family with BPES. I mostly
post on the Yahoo site rather than Careplace.
I thought that you may like to know about this link:

In Google search for BPES ie start with www.google.com

Then when you see the link for BPES Family Network, click on it.
Then on the home page click on the link in the large purple box.

The link in the purple box takes you to a very good site, with masses of
information from one of the most knowledgeable doctors on BPES. The main
author is Dr Elfride De Beare, based in Belgium. She is a very well known
and respected geneticist who specialise in BPES, and her lab and her
practice have seen or have been in touch with more than 100 people with
BPES.

In my opinion this article is an excellent starting point for finding out
information, especially on the genetics side.

When it comes to getting info on surgery - may I suggest that you read this:
http://www.emedicine.com/ent/topic97.htm

But please remember that we are all different, and what applies to each of
us is aimed at our specific circumstances. For example, surgery techniques
when I was a toddler were quite different to what they are now. So there
isn’t much point in me telling you much about my experience. I can tell you
that I don’t recall experiencing pain, of course there was some discomfort,
but to bed honest, having tonsillitis or appendicitis was much worse. Also,
having spoken to the many young children that I have met via the Yahoo
group, and from talking with their parents, it is my understanding that the
kids are very resilient and get through the recovery pretty quickly, not
having too much discomfort. You may find it useful to look at the Yahoo
group as there are lots of personal experiences in the posts that people
have made over the past few years. The group has about 600 or so members
worldwide - pretty amazing really. Also, I think abut 10 members of the
group, maybe more, are medics, so ever so often if there are specific
questions that come up they are happy to elaborate on topics, eg dealing
with swelling; understanding more about POF, etc.

I hope that you get a chance to look at the group, which as several hundred
photos, many are “before and after” pics. You will see lovely people, with
lovely smiling faces.

I hope that all goes well with your little girl.
Best wishes
Shireen Mohandes
London, England

-----Original Message-----
From: bartram [mailto:blepharophimosis-cpt8241@lists.careplace.com]
Sent: 27 March 2008 06:43
To: shireen@hartsdale.co.uk
Subject: [blepharophimosis] My daughter was just diagnosed…now what?


#3

Hi,
If my experience is helpful, that would be great. I definitely qualify as
part of a seasoned family.

My first husband and the father of my children was the first in his family
born with BPES. That was in 1944. He was operated on by Dr. Kosanjian in
Boston when he was three, who was the expert then and who did an admirable
job for the time. Our second son was born with BPES in 1971 and was
operated on when he was four in New York. He is now 37, lives in China and
is the father of two kids, the oldest of whom was born with bleph. Our
granddaughter had her first surgery in February - last month - just before
she turned five. She’s a trooper and a delight and came through it truly
unscathed. When I asked her how it was she said, “not scary, but I didn’t
like it.” She is scheduled for her second surgery here in Seattle next
month. That will be all they do unless she wants further surgery in the
future, but that will be her decision.

My son and daughter-in-law have had blood tests along with their daughter.
The results were sent to Belgium and as far as I know they don’t yet know
if Leah has Type 1 or type 2. They should know soon, probably before the
next surgery which is scheduled in April.

Please know that having a child with bleph is just not usually such a big
deal. My son had a very normal life and was truly an exquisite kid which
had nothing to do with bleph. There can be some complications, but they
seem to be quite rare. If your child is progressing normally don’t worry.
We live in such privileged times and there is so much they can do for this
relatively minor problem. In my family we have dealt with bleph for three
generations and I can only say my son and granddaughter are both amazing and
remarkable people.

I am more than willing to lend support. Please let me know if you have
questions. If I can answer them, I promise to respond. I do know how
upsetting something like this can be.

All the best,

Lexi

On Wed, Mar 26, 2008 at 11:43 PM, bartram <
blepharophimosis-cpt8241@lists.careplace.com> wrote:


#4

Thanks for your support. My baby will be the first in our family to be diagnsied with this disorder too.

Her geneticist is also telling us to send blood work to Belguim since there is no US lab that can make the determination as to the type of BPES she has. Can I ask if you know if medical insuracne covered the tests, or what the cost was financially if it didn’t?

Nicki


#5

Hi everyone. I’ve been a member here for a while, but haven’t posted. My daughter was born 4 years ago with Bleph and she’s the first in our family to have it. I’ve been following this post and am wondering about sending blood work to Belgium. Where/Who does it get sent to? Who does the bloodwork? We had seen a geneticist very early and he was of NO help whatsoever and I refuse to go back to him. We are in NYC and if anyone knows of a good geneticist here or relatively close, we would go in a heartbeat.

Thanks.
Jeanette
New York City


#6

Hey Nicki,

Let me ask my son. In fact, let me include his e-mail address so if you
have any other questions you can ask them directly. He’s well informed
about bleph and might be the best person to talk to. His name is Micah and
his address is micah_truman@yahoo.com

Best of luck.

Lexi

On Sat, Mar 29, 2008 at 4:49 PM, bartram <
blepharophimosis-cpt8241@lists.careplace.com> wrote: