Guest guest Posted October 3, 2006 Report Share Posted October 3, 2006 Dear Welcome to the group. Your family is not alone - there are more than 500 people in the Blepharophimosis group. Here are some ideas you may like to try: A good starting point is to print this article and then take it to your nephew's GP and ask the GP to go through the article with you. Then ask your GP to refer you to a geneticist. Have they arranged for your nephew to see a specialist? Where do you live? I am assuming that it is in the UK because of your email address. this is the article: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html If you would like to talk on the phone with me or one somebody who lives near you, I would be happy to help put you in touch with a mum or dad (or granny, even) who lives near you. Regards Shireen Mohandes London, England From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of sarah_rogersonSent: 02 October 2006 17:14blepharophimosis Subject: blepharophimosis new diagnosis hi, my name is sarah. my nephew has just been diagnosed withblepharophimosis. and unfortunately my family and i seem unable to getmuch info from the doctors at the hospital other than the diagnosis. iwould be interested in talking with others. HELP!!!!!!!!!!!!!!!! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 4, 2006 Report Share Posted October 4, 2006 Hi Thought I would introduce myself. My name is Lucy and my husband Garry and I have a daughter called Holly who is 20 months old. We live in Hampshire, UK. I must say this support group has been a life saver because like your family our local doctors had never seen a case and did not even know what is was so it was nice to chat to people on e-mail who had been though similiar expriences. We are now in the care of Moorfields Eye Hospital in London with Mr Collin who is the top expert/surgeon in UK for Blepharophimosis. They are absolutely brilliant and make you feel at ease, as they say they see this syndrome quite a lot so it is not so rare for them. There are photos of Holly on the website which you can look at. Holly had her first operation on the 4th September at Moorfields to lift her eyelids up and it had made such a difference. I will post some recent photos ASAP. She is such a delightful little girl and we love her so much. As her personality is so strong you see past the eyes. One thing I do remember when Holly was a tiny baby was it was so difficult to look after my first baby with tiredness etc not alone worrying about the fact that she wouldn't open her eyes properly. I found it very hard to deal with the fact she was born with a syndrome as she was the first in the family to have it and we hadn't ever seen or heard of it before. It just took me time to come to terms with it I suppose but there is nothing wrong with that, you're only human. If you or any of your family have any questions please write to me. My direct e-mail is lucy.chidgey@.... Thanks Lucy, Garry and Holly - Hampshire, UKsarah_rogerson <sarah_rogerson@...> wrote: hi, my name is sarah. my nephew has just been diagnosed withblepharophimosis. and unfortunately my family and i seem unable to getmuch info from the doctors at the hospital other than the diagnosis. iwould be interested in talking with others. HELP!!!!!!!!!!!!!!!! The all-new goes wherever you go - free your email address from your Internet provider. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 5, 2006 Report Share Posted October 5, 2006 > > hi, my name is sarah. my nephew has just been diagnosed with > blepharophimosis. and unfortunately my family and i seem unable to get > much info from the doctors at the hospital other than the diagnosis. i > would be interested in talking with others. HELP!!!!!!!!!!!!!!!! > Hi ! Welcome to the group! My nephew has BLEPH also. He almost 2 yrs. old. We live in San Diego CA. My sister has also been kinda uninformed about BLEPH also. How old is your nephew?Where do you live? I would like to write you more... maybe compare notes,etc.??? in CA. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 6, 2006 Report Share Posted October 6, 2006 My daughter will be 3 months old next week. She never opened her eyes fully and I continued to ask her pediatrician if it was normal. Finally she referred me to a specialist and then they referred me to Riley Hospital in Indianapolis, IN. The pediatric ophthmologist diagnosised her with blepharophimosis and ptosis. He stated it was rare, but not rare to his practice. She is scheduled for the first stage of surgery (a sling) on 10/24/06. Has anyone been through the surgery? Did the sling work? What do I have to look forward to following the surgery? The doctors can only tell you medical info and I want to know physical and emotional information. Signed, Concerned Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 9, 2006 Report Share Posted October 9, 2006 Hi, Here's our experience of how we felt about our son's operations. Your heart will break when you hand over your little girl to the doctors - looking so tiny in her gown, not understanding what's going on. You will sit in recovery, looking in an amazed fashion at your daughter who looks very different because her eyes are now opened wider. The same - but different. Hopefully, all will go well in recovery although it's hit and miss - wake up and no problems, or some moaning and groaning from the anaesthesia, maybe even some vomit. All in all though - your daughter will do much better than you will as she'll be back to normal within a day or so. I remember registering in the parent's waiting room and telling the volunteer the name of the surgeon and the time of the surgery, 45 minutes although booked for an hour. The parents behind me registered for an 8 hour surgery. My husband and I looked at each other and knew that no matter how difficult this was for us, we were lucky compared to other parents. You'll put some antibiotic cream over the stitches and then maybe vitamin E or a cream called Dermatix to reduce the scarring. We were lucky that our son didn't experience any dry eye but others have and may require a different eye drop. Our son is a great, happy, intelligent young man who is now 8 years old. He's had a few more surgeries in the past year and doing great. I hope this has helped. Please feel free to email or call if you'd like to discuss further. el. Evergreen Lee 397 Freeman Crescent, Oakville, ON L6H 4R4 Phone: 905 338-8762 Fax: 905 338-1157 Cell: 416 526-7581 >From: " venables72 " <venables72@...> >Reply-blepharophimosis >blepharophimosis >Subject: blepharophimosis New Diagnosis >Date: Fri, 06 Oct 2006 14:02:39 -0000 > >My daughter will be 3 months old next week. She never opened her eyes >fully and I continued to ask her pediatrician if it was normal. >Finally she referred me to a specialist and then they referred me to >Riley Hospital in Indianapolis, IN. The pediatric ophthmologist >diagnosised her with blepharophimosis and ptosis. He stated it was >rare, but not rare to his practice. She is scheduled for the first >stage of surgery (a sling) on 10/24/06. Has anyone been through the >surgery? Did the sling work? What do I have to look forward to >following the surgery? The doctors can only tell you medical info and >I want to know physical and emotional information. > >Signed, >Concerned > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 13, 2006 Report Share Posted October 13, 2006 Thank you for the information and kind words...Avery had her surgery yesterday and did very well. She slept alot yesterday and woke up with eyes wide open...we finally could see what color her eyes were. A very happy moment for me and her father! The doctor is not sure if she will need to have any further surgeries...praying she doesn't. I will post pictures very soon. Nicki"E. Lee" <evergreen_lee@...> wrote: Hi,Here's our experience of how we felt about our son's operations. Your heart will break when you hand over your little girl to the doctors - looking so tiny in her gown, not understanding what's going on. You will sit in recovery, looking in an amazed fashion at your daughter who looks very different because her eyes are now opened wider. The same - but different.Hopefully, all will go well in recovery although it's hit and miss - wake up and no problems, or some moaning and groaning from the anaesthesia, maybe even some vomit. All in all though - your daughter will do much better than you will as she'll be back to normal within a day or so.I remember registering in the parent's waiting room and telling the volunteer the name of the surgeon and the time of the surgery, 45 minutes although booked for an hour. The parents behind me registered for an 8 hour surgery. My husband and I looked at each other and knew that no matter how difficult this was for us, we were lucky compared to other parents.You'll put some antibiotic cream over the stitches and then maybe vitamin E or a cream called Dermatix to reduce the scarring. We were lucky that our son didn't experience any dry eye but others have and may require a different eye drop.Our son is a great, happy, intelligent young man who is now 8 years old. He's had a few more surgeries in the past year and doing great.I hope this has helped. Please feel free to email or call if you'd like to discuss further.el.Evergreen Lee397 Freeman Crescent,Oakville, ON L6H 4R4Phone: 905 338-8762Fax: 905 338-1157Cell: 416 526-7581>From: "venables72" <venables72 >>Reply-blepharophimosis >blepharophimosis >Subject: blepharophimosis New Diagnosis>Date: Fri, 06 Oct 2006 14:02:39 -0000>>My daughter will be 3 months old next week. She never opened her eyes>fully and I continued to ask her pediatrician if it was normal.>Finally she referred me to a specialist and then they referred me to>Riley Hospital in Indianapolis, IN. The pediatric ophthmologist>diagnosised her with blepharophimosis and ptosis. He stated it was>rare, but not rare to his practice. She is scheduled for the first>stage of surgery (a sling) on 10/24/06. Has anyone been through the>surgery? Did the sling work? What do I have to look forward to>following the surgery? The doctors can only tell you medical info and>I want to know physical and emotional information.>>Signed,>Concerned> Get your email and more, right on the new .com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 24, 2007 Report Share Posted April 24, 2007 Jane, I have not visited with Dr Talpaz, but I would say from what I know, that he is one of the top CML experts in the world and from what I have read from Jerry Mayfield - a great guy too! You cant pass the chance to be seen by somebody with that dual set of credentials. I see Dr Drucker one time a year and I feel and sleep better for it as well. He is in the same small league with Dr Talpaz! Good luck, Chris --- Jane <jane_smith2007.1977@...> wrote: > Hello, I've been discovering all of these website > for support for CML! > I may be a new diagnosis from some blood work my > family doctor did, and > I'm going to see Dr. Moshe Talpaz at the University > of Michigan > tomorrow. I'm reallly getting nervous, especially > reading about a bone > marrow biopsy. Is Dr. Talpaz good at them or should > I ask for someone > in particular? What does everyone think about > requesting sedation? > I've been hearing good things about Dr. talpaz, but > would love more > opinions about him or the University of Michigan? > > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 24, 2007 Report Share Posted April 24, 2007 One more thing - I have never had a physical problem with a BMB. But if I was to plan ahead - I would get a set of head phones and fun music and use it when the procedue was being done. The sound was far worse then the physical experience. --- Mr Stickel <stick924@...> wrote: > Jane, > > I have not visited with Dr Talpaz, but I would say > from what I know, that he is one of the top CML > experts in the world and from what I have read from > Jerry Mayfield - a great guy too! > > You cant pass the chance to be seen by somebody with > that dual set of credentials. I see Dr Drucker one > time a year and I feel and sleep better for it as > well. He is in the same small league with Dr > Talpaz! > > > Good luck, > > Chris > --- Jane <jane_smith2007.1977@...> wrote: > > > Hello, I've been discovering all of these website > > for support for CML! > > I may be a new diagnosis from some blood work my > > family doctor did, and > > I'm going to see Dr. Moshe Talpaz at the > University > > of Michigan > > tomorrow. I'm reallly getting nervous, especially > > reading about a bone > > marrow biopsy. Is Dr. Talpaz good at them or > should > > I ask for someone > > in particular? What does everyone think about > > requesting sedation? > > I've been hearing good things about Dr. talpaz, > but > > would love more > > opinions about him or the University of Michigan? > > > > > > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 24, 2007 Report Share Posted April 24, 2007 Hi all I've had a dozen or more BMB never had any sedation at all. In fact they have been much better in these latter years than at the beginning.. Only problem I have is I need a nurse to hold me on the table as Dr. Couban has to tug and pull so hard as I have very hard bones and he always needs a piece of bone. But not much discomfort at all he is good at it..In fact had a BMB last Thursday as with the Trial Drug (AMN107) I have to have them every six months.. SkipD Dx'ed 1978 http://easyskip.tripod.com --- Tracey <traceyincanada@...> wrote: > Hi Jane, > > As others have pointed out, Dr. Talpaz is one of the > leading experts in > CML so you have nothing to worry about there. > > I've never had any sedation with any of my bone > marrow biopsies and > I've never had any issues with them either. I know > some people have > horror stories to tell but mine have all been fine. > It all depends on > the person doing it I guess. The worst of it is > when they actually > draw the marrow out. If they pull too fast on the > needle, it feels > like they're sucking the marrow up from the toes but > it's all over in > 30 seconds. I'd rather have 20 bone marrow biopsies > than go through > another labour and delivery > > Let us know how your appointment goes tomorrow, > Tracey > dx Jan 2002 > > > > > > Hello, I've been discovering all of these website > for support for > CML! > > I may be a new diagnosis from some blood work my > family doctor did, > and > > I'm going to see Dr. Moshe Talpaz at the > University of Michigan > > tomorrow. I'm reallly getting nervous, especially > reading about a > bone > > marrow biopsy. Is Dr. Talpaz good at them or > should I ask for > someone > > in particular? What does everyone think about > requesting sedation? > > I've been hearing good things about Dr. talpaz, > but would love more > > opinions about him or the University of Michigan? > > > > > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
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