Guest guest Posted June 28, 2006 Report Share Posted June 28, 2006 Hi Tamara, I think your English is great. I've just found this site, my daughter Abbie has BPES, she's 10 months. How old is Alice? Congratulations at going back to work. I hope it's going well. As long as your husbands other condition is on a different chromosome to BPES your daughter only has a 50% or less chance of having it too - I will keep my fingers crossed for you. Can they do any tests to find out about it? Leah --- In blepharophimosis , " Tamara " <Liath_6@...> wrote: > > Hi to all, > It's many times that I could not write 'cause I was very busy.. (I > started again to work!) > Althought I found always a little time to read all of you. > As always I post my Alice's new pics.. > Recently, my husband Radek (with Bpes) was dignosed with another second > genetic malformation on his left cornea, and it's not related with > Bpes. He had three different views defect Miopia, Astigmatism and > Ipermetropy in left eye due to the waves groud of the cornea! > Also our eyedoctor said that it could be possibble that Alice hereditad > also this second malformation, as she hereditated Bpes.. I hope > Alice'cornea is healthy and it doesn't affected.. we hope. > > A big embrace to everyone I know and to who is new. > Bye Bye > Tamara > (from Italy) > > (... EXCUSE MY ENGLISH!!!) > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 3, 2006 Report Share Posted July 3, 2006 Hi Tamara, This is Gemma from Spain. Alice looks great!! She is “guapísima” (very beautiful), and so cute!!! How old she is? I have a son, Pablo who is 9 months old, and we are interviewing different plastics surgeons here in Madrid but all of them think that it is better to make the surgery when he will be 2 or 3. Alice looks wonderful, at what age did she get the surgery? Did they made her the sling surgery? She does not have any scars at all? Sorry for the questions and thank you. You have a princess!! Gemma Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 3, 2006 Report Share Posted July 3, 2006 Hi, today is fist Alice's birthday (03/07/2006!!!)... She had her surgery at the age of 5 months, here in Milan and effectivly we are really happy because Dr. Preis (the name of the surgeon) did a really fantastic sling. After surgery, Alice 's sight changed completly as her behaviour was suddendly activated.. Our Doctors decided to operate Alice because the lid's level was really low and not equal in both eyes. The surgery date was terrible for us. I was very scared but Alice's reaction reassured me about her condition... Children many times are able to surprise us, and sometimes they have efforts we could not imagine. In reference with my husband now we don't have information because last year Radek and Alice had blood test in order to find Bpes Gene, but in hospital they had a mistake in taking blood and we should have to came back to have another blood test. This cornea's malformation was discovered because eyedoct decided to control Radek eyes with a corneal topografy. During normal sight exman he noticed that was very starnge that Radek was not able to see near neither far and neither clear. A big embrace to everyone Tamara A big embrace Tamara Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 3, 2006 Report Share Posted July 3, 2006 Hi, today is fist Alice's birthday (03/07/2006!!!)... She had her surgery at the age of 5 months, here in Milan and effectivly we are really happy because Dr. Preis (the name of the surgeon) did a really fantastic sling. After surgery, Alice 's sight changed completly as her behaviour was suddendly activated.. Our Doctors decided to operate Alice because the lid's level was really low and not equal in both eyes. The surgery date was terrible for us. I was very scared but Alice's reaction reassured me about her condition... Children many times are able to surprise us, and sometimes they have efforts we could not imagine. In reference with my husband now we don't have information because last year Radek and Alice had blood test in order to find Bpes Gene, but in hospital they had a mistake in taking blood and we should have to came back to have another blood test. This cornea's malformation was discovered because eyedoct decided to control Radek eyes with a corneal topografy. During normal sight exman he noticed that was very starnge that Radek was not able to see near neither far and neither clear. A big embrace to everyone Tamara A big embrace Tamara Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 4, 2006 Report Share Posted July 4, 2006 Hi Tamara and everyone, Great to hear you got such a good result from Alice's surgery (and Happy Birthday Alice for yesterday). Abbie is 11 months (corrected age is nearly 9m) but she can't sit and she's not really interested in grabbing toys. I thought this was developmental delay but others have said this could be partly due to poor vision and she does tip her head really far back to see so I'm worried about her neck and balance. Did Alice seem to see better after her surgery? I know you said she was much more active. Abbies surgeon said they would try to delay surgery but I've decided to see Mr in London who I think does the most BPES surgery in the UK. leah --- In blepharophimosis , " Tamara " <Liath_6@...> wrote: > > Hi, > today is fist Alice's birthday (03/07/2006!!!)... > She had her surgery at the age of 5 months, here in Milan and > effectivly we are really happy because Dr. Preis (the name of the > surgeon) did a really fantastic sling. > After surgery, Alice 's sight changed completly as her behaviour was > suddendly activated.. > Our Doctors decided to operate Alice because the lid's level was > really low and not equal in both eyes. > The surgery date was terrible for us. I was very scared but Alice's > reaction reassured me about her condition... > Children many times are able to surprise us, and sometimes they have > efforts we could not imagine. > > In reference with my husband now we don't have information because > last year Radek and Alice had blood test in order to find Bpes Gene, > but in hospital they had a mistake in taking blood and we should have > to came back to have another blood test. This cornea's malformation > was discovered because eyedoct decided to control Radek eyes with a > corneal topografy. During normal sight exman he noticed that was very > starnge that Radek was not able to see near neither far and neither > clear. > A big embrace to everyone > Tamara > > > A big embrace > Tamara > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 5, 2006 Report Share Posted July 5, 2006 Hi Leah, I have to admit that Alice after surgery changed completly her behaviour because really she discovered a world that before she was not able to see. If you go in my photo folder (Alice from Milan) you can see the enourmous difference before and after!! I was also very worried about her developmental because her posture was effectvly very head back caracterised and she had always her mouth open and was very slowly. However I believe that each child have own development and each one have own character. What is the opinion of your family pediatric doctor? Concerning the ability of sitting it could depend by the posture.. (I believe it must be very hard to find the right balance) What are the opinion about the surgery age in your case? A big embrace Tamara > > > > Hi, > > today is fist Alice's birthday (03/07/2006!!!)... > > She had her surgery at the age of 5 months, here in Milan and > > effectivly we are really happy because Dr. Preis (the name of the > > surgeon) did a really fantastic sling. > > After surgery, Alice 's sight changed completly as her behaviour > was > > suddendly activated.. > > Our Doctors decided to operate Alice because the lid's level was > > really low and not equal in both eyes. > > The surgery date was terrible for us. I was very scared but > Alice's > > reaction reassured me about her condition... > > Children many times are able to surprise us, and sometimes they > have > > efforts we could not imagine. > > > > In reference with my husband now we don't have information because > > last year Radek and Alice had blood test in order to find Bpes > Gene, > > but in hospital they had a mistake in taking blood and we should > have > > to came back to have another blood test. This cornea's > malformation > > was discovered because eyedoct decided to control Radek eyes with > a > > corneal topografy. During normal sight exman he noticed that was > very > > starnge that Radek was not able to see near neither far and > neither > > clear. > > A big embrace to everyone > > Tamara > > > > > > A big embrace > > Tamara > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 5, 2006 Report Share Posted July 5, 2006 Hi Tamara, Thanks for your reply, Alice is beautiful and I see what you mean that her surgery has made a big difference. I'm so glad to hear she can now make the most of the world now her vision is better. Abbie is already very active, she rolls and kicks and wants to stand up all the time - she is never still and she is very content, She smiles, laughs and sings away all day. I am sure her peripheral vison must be affected though and her balance - she can sit if you distract her by holding a watch low down in front of her so she doesn't tip her head back to look round. Her surgeon said they would do the first operation age about 3 unless it was affecting her before that. Her general paediatrician last time didn't say much about her development as she was only 6m corrected then so he said wait and see but that she was good at head control and tone. It seems like the co-ordination of the specialites she needs is not great. I don't know if I am being unreasonably demanding because I want my general Paeds to look it up so they know exactly what BPES is and what she needs rather than just labelling her as a " chromosome abnormality " . She's got an appt at the beginning of August so hopefully I can discuss it with him then. I will put an update on when she has been to her appointments. Best wishes to you, Alice and your family, Leah and Abbie > > > > > > Hi, > > > today is fist Alice's birthday (03/07/2006!!!)... > > > She had her surgery at the age of 5 months, here in Milan and > > > effectivly we are really happy because Dr. Preis (the name of the > > > surgeon) did a really fantastic sling. > > > After surgery, Alice 's sight changed completly as her behaviour > > was > > > suddendly activated.. > > > Our Doctors decided to operate Alice because the lid's level was > > > really low and not equal in both eyes. > > > The surgery date was terrible for us. I was very scared but > > Alice's > > > reaction reassured me about her condition... > > > Children many times are able to surprise us, and sometimes they > > have > > > efforts we could not imagine. > > > > > > In reference with my husband now we don't have information > because > > > last year Radek and Alice had blood test in order to find Bpes > > Gene, > > > but in hospital they had a mistake in taking blood and we should > > have > > > to came back to have another blood test. This cornea's > > malformation > > > was discovered because eyedoct decided to control Radek eyes with > > a > > > corneal topografy. During normal sight exman he noticed that was > > very > > > starnge that Radek was not able to see near neither far and > > neither > > > clear. > > > A big embrace to everyone > > > Tamara > > > > > > > > > A big embrace > > > Tamara > > > > > > Quote Link to comment Share on other sites More sharing options...
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