Guest guest Posted September 10, 2005 Report Share Posted September 10, 2005 HiThere have been quite a lot of posts recently about the approach to and timing of surgery.I think that Amy's recent post summarises the situation very well:> Cammie,>> I haven't been going thru all of the things that some of> the other parents have had to go thru with surgeries and all.> But one thing I learned from this group is that if what he> doctors are saying to you and you don't agree, get a second> opinion and find a doc who will listen to you. You know your> daughter better than the doc does. Good luck with everything> and blessing to you and your family.>> Amy> West Mifflin, PA> On a different subject:Remember that straight BPES Syndrome does not come with development complications. I quote: --------------------------------------------SummaryDisease characteristics. Classic blepharophimosis syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two types of blepharophimosis syndrome have been described: BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF); BPES type II includes only the four major features. Other ophthalmic manifestations associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic disease-causing mutation are expected to have normal intelligence. -------------------------------------------- It is so important to get a definite diagnosis from a genetics doctor. Remember that there are other syndromes that have similar, but not exact, characteristics of BPES. There are many people who are members of this group who have children with the other syndromes, and who face the same surgery decisions as the BPES people, and on top of that, have to manage additional healthcare issues. It must be very difficult to do that. Having met a few people (and having spoke to a few on the phone) I know how determined you are to succeed in doing as much as possible for your family. Don't forget Amy's words - they summarise the challenge and the spirit of the challenge. Take care Shireen Quote Link to comment Share on other sites More sharing options...
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