Re: Introduction - Marshall [3 Attachments]

[Guest guest]

Hello ,

Welcome to the group

Your boys are gorgeous! Its interesting to me as I have never known of one of a set of twins having BPES but in saying that, I am no expert

We are in Australia and our daughter Jessie, now 4 is the first in our family to have this condition. Your story sounds familiar to me as I remember the drs not really knowing what was going on & it seemed no one could give me a clear answer. It was a confusing time for us. Jessie was diagnosed at 10mths of age by an opthamologist. There was no genetic testing, He diagnosed her by looking at her. In regards to surgery, it is an individual thing. Jessie had regular eye testing, from 3weeks old to see if her vision was deteriorating as part of her pupils were covered by her eyelids. She had surgery at 2yrs of age to remove excess skin in the inner corners of her eyes (epicanthus surgery) and to widen her eye openings and has just had surgery 2mths ago to lift her lids. Both procedures were day ops and have been a fantastic result for her and her vision has improved for the 1st time in 4yrs. There is an album of pics under "jessie girl" and i

must add some recent ones to it.

This group has been a life saver to me. I will never forget the day I found it! I cried when I saw all the pictures and to just suddenly no longer feel alone about something I knew NOTHING about. BPES has had no negative affect on my daughter at all. She is a healthy happy beautiful little girl. She is just a blessing to my life....

- Machaela ( and Jessie ) xx

From: Marshall <nicoledmarshall@...>Subject: blepharophimosis Introduction - Marshall [3 Attachments]blepharophimosis Received: Saturday, 2 January, 2010, 2:02 AM

Hello to everyone and Happy New Year. I just found this site the other night and we have so many questions about our son's situation. We were blessed with the arrival of fraternal twin boys back on October 2nd. We are Americans who currently live outside Wiesbaden, Germany. We noticed immediately that something seemed different about 's eyes, but the pediatricians at the hospital didn't think that anything was wrong at first. did start opening his eyes more, usually one more than the other, but something definitely didn't seem right. We were surprised that his eye condition didn't alarm any of the attending doctors - we were in the hospital for two weeks with them and saw many different pediatricians.

We asked to have a genetic screening done on and it came back that he has a translocation of the 3rd chromosome onto the y chromosome, meaning that a piece of the third chromosome had broken off and was attached to the y. No genetic material was lost - just a piece was in the wrong place. We also had a pediatric opthomologist take a look at his eyes when he was two weeks old and she said that his eyes (strength) were normal.

We have seen our pediatrician twice now for general check-ups and he seems to think it is ptosis (based in part on our own early suspicions and internet research) and has recommended seeing a pediatriac opthomologist every six months and having surgery around age 3. After doing our own research (and finding this site), we are pretty convinced that he has blepharophimosis based on his facial and eyelid features.

Our first question - how have your children been diagnosed with the condition? Is it simply having a doctor say that he has it based on their look or is it more clinical/lab tests? At what age do most newborns/infants have their first surgery? I know it is case dependent, but there seems to be several cases where the babies are having surgeries within the first six months of life, notably an eyebrow lift, I believe.

If anyone has any time to offer us some information on how to get started or how we should proceed with this, we would greatly appreciate it.

I've attached several pictures of .

Thank you,

Nikki Marshall

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