Guest guest Posted October 21, 2005 Report Share Posted October 21, 2005 Hi All Our Daughter Tehrah (pictures uploaded under Tehrah)who is now 2 1/2 years old has recently been diagniosed as having blepharophimosis by a Peadiatric neurosurgeon who has a reputation for finding causes for problems when everyone else is stumped. We have been to a genetiscist when Tehrah was one years old and again when she turned Two both times the geneticist said she felt that there was a genetic component to Tehrah Delayed development and Low Muscle Tone but that she did not find a syndrome which Tehrah falls into. Finally having an Answer from the Neurosurgeon we rushed out and began frantically researching blepharophimosis. Only to find that Tehrah didn't seem to classicaly fall into this/these groups either. So we Phoned our Geneticist and told her what the Neurosurgeon had said and Her response was Stunned silence and what makes him think that. After a very politically correct way of saying that although she disagrees with the diagnosis she can't blatantly say he's wrong but she does not feel that Tehrah falls into any of the variations of Blephs. Okay so now we sit not knowing who'e right and who's wrong, both the Neurosurgeon and the Geneticist have picked up these dysmorphisms. Low Muscle Tone (She's been going to Physiotherapy since she was 7 Months old) Arched feet, eyes slightly wider apart than normal, width of eyes shorter than normal, Droopy left eyelid mostly evident when she's tired (her mother has exactly the same droop to her eyelid when she's tired), Ears that protrude (My ears did the same when I was her age and naturally flattened as I got older) a light brown birthmark on her chest MRI's showed A microstroke that occured when she was in the womb a Shortening of the Corpus Callosum ourQuestion is does Tehrahs symptoms seem to match any of your experiences of Blephs or do any of you oryour children have any of the above symptoms? We would appreciate any and all input Best regards ita and Garren Amdur How much free photo storage do you get? Store your holiday snaps for FREE with Photos. Get Photos Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 21, 2005 Report Share Posted October 21, 2005 Garren First I want to say I wish you well and I hope you and your family get the support you need. I am 34 with BPES, my dad (63) and my daughter (14 mos.) and my grandfather ( deceased but born in 1915) all have BPES with varying degrees of ptosis, wide set eyes, narrow eye openings and epicanthal fold. None of us so far has had any other symptoms. > > Hi All > > Our Daughter Tehrah (pictures uploaded under Tehrah)who is now 2 1/2 years old has recently been diagniosed as having blepharophimosis by a Peadiatric neurosurgeon who has a reputation for finding causes for problems when everyone else is stumped. > > We have been to a genetiscist when Tehrah was one years old and again when she turned Two both times the geneticist said she felt that there was a genetic component to Tehrah Delayed development and Low Muscle Tone but that she did not find a syndrome which Tehrah falls into. > > Finally having an Answer from the Neurosurgeon we rushed out and began frantically researching blepharophimosis. Only to find that Tehrah didn't seem to classicaly fall into this/these groups either. So we Phoned our Geneticist and told her what the Neurosurgeon had said and Her response was Stunned silence and what makes him think that. After a very politically correct way of saying that although she disagrees with the diagnosis she can't blatantly say he's wrong but she does not feel that Tehrah falls into any of the variations of Blephs. > > Okay so now we sit not knowing who'e right and who's wrong, both the Neurosurgeon and the Geneticist have picked up these dysmorphisms. > > Low Muscle Tone (She's been going to Physiotherapy since she was 7 Months old) > > Arched feet, > > eyes slightly wider apart than normal, > > width of eyes shorter than normal, > > Droopy left eyelid mostly evident when she's tired (her mother has exactly the same droop to her eyelid when she's tired), > > Ears that protrude (My ears did the same when I was her age and naturally flattened as I got older) > > a light brown birthmark on her chest > > MRI's showed > > A microstroke that occured when she was in the womb > > a Shortening of the Corpus Callosum > > > ourQuestion is does Tehrahs symptoms seem to match any of your experiences of Blephs or do any of you oryour children have any of the above symptoms? > > We would appreciate any and all input > > Best regards > > ita and Garren Amdur > > > > > > > > --------------------------------- > How much free photo storage do you get? Store your holiday snaps for FREE with Photos. Get Photos > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 21, 2005 Report Share Posted October 21, 2005 Dear ita and Garren Welcome to the group. I was wondering if you are aware that there are several syndromes around, and that you may find it beneficial to look at this site: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html I quote: Classic blepharophimosis syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. I think that it is really confusing that some web sites list BPES as BPES or BPEI. At other times, some sites and articles refer to "Classic Blepharophimosis" without explicitly mentioning other characteristics. Take a look at the section called "Differential Diagnosis". Listed in "Table 2" are some related conditions. My apologies if you know about this article already. Also, I am not a medically trained person. And I don't believe in "do-it-yourself diagnosis". Rather, sometimes if we are able to forward relevant material to medical people, we are able to possibly get the right information sooner rather than later. Where do you live? If it helps, I can maybe ask the 3 genetics specialists in BPES to suggest a genetics doctor nearest to you. Please let me know if this will help you. take care Shireen Mohandes London, England (am 44 years old, and the only person in my family with BPES) From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of Garren AmdurSent: 21 October 2005 13:03blepharophimosis Subject: blepharophimosis Tehrah Hi All Our Daughter Tehrah (pictures uploaded under Tehrah)who is now 2 1/2 years old has recently been diagniosed as having blepharophimosis by a Peadiatric neurosurgeon who has a reputation for finding causes for problems when everyone else is stumped. We have been to a genetiscist when Tehrah was one years old and again when she turned Two both times the geneticist said she felt that there was a genetic component to Tehrah Delayed development and Low Muscle Tone but that she did not find a syndrome which Tehrah falls into. Finally having an Answer from the Neurosurgeon we rushed out and began frantically researching blepharophimosis. Only to find that Tehrah didn't seem to classicaly fall into this/these groups either. So we Phoned our Geneticist and told her what the Neurosurgeon had said and Her response was Stunned silence and what makes him think that. After a very politically correct way of saying that although she disagrees with the diagnosis she can't blatantly say he's wrong but she does not feel that Tehrah falls into any of the variations of Blephs. Okay so now we sit not knowing who'e right and who's wrong, both the Neurosurgeon and the Geneticist have picked up these dysmorphisms. Low Muscle Tone (She's been going to Physiotherapy since she was 7 Months old) Arched feet, eyes slightly wider apart than normal, width of eyes shorter than normal, Droopy left eyelid mostly evident when she's tired (her mother has exactly the same droop to her eyelid when she's tired), Ears that protrude (My ears did the same when I was her age and naturally flattened as I got older) a light brown birthmark on her chest MRI's showed A microstroke that occured when she was in the womb a Shortening of the Corpus Callosum ourQuestion is does Tehrahs symptoms seem to match any of your experiences of Blephs or do any of you oryour children have any of the above symptoms? We would appreciate any and all input Best regards ita and Garren Amdur How much free photo storage do you get? Store your holiday snaps for FREE with Photos. Get Photos Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 21, 2005 Report Share Posted October 21, 2005 Welcome to the group:) I just looked at the pix of your wee girl, Her eye openings don't resemble a child with bleph? the characteristics of bleph are very small eye openings, epicanthal folds on the inner corner of each eye, (an extra fold of skin going upwards to the eye) A wide flat bridge between the eyes, she doesn't look like she has that? droopy top eyelids that usually sits on or slightly above the pupil depending on the severity, Our son Ethan has all that, diagnosed at birth, he is 2 1/2 years old also, but has not had any surgery as the opthalmologist said as long as his pupil is exposed he see's like you or I, he runs around like any other child his age:) he has never tilted his head back to see, just slightly raises his eyebrows:) Ethan has the wide flat bridge between his eyes, small eye openings, his right ear especially, bends over at the top, definately the droopy top eyelids, no birthmarks, doesn't have low muscle tone, but Leah, also from NZ, has a son Ethan to, he is 6 years old and does have low muscle tone, he still has to be in diapers, there are different severities to the condition that some people have and some people do not? Our opthalmologist said he may do surgery on Ethan when he is between 4-5 years old? it all depends on his vision and how it is been affected and at the moment it isn't compromised so its all good:) There are pix of him at the site, he is the younger Ethan in the pumpkin outfit:) Leanne-Christchurch, NZ -- blepharophimosis Tehrah Hi All Our Daughter Tehrah (pictures uploaded under Tehrah)who is now 2 1/2 years old has recently been diagniosed as having blepharophimosis by a Peadiatric neurosurgeon who has a reputation for finding causes for problems when everyone else is stumped. We have been to a genetiscist when Tehrah was one years old and again when she turned Two both times the geneticist said she felt that there was a genetic component to Tehrah Delayed development and Low Muscle Tone but that she did not find a syndrome which Tehrah falls into. Finally having an Answer from the Neurosurgeon we rushed out and began frantically researching blepharophimosis. Only to find that Tehrah didn't seem to classicaly fall into this/these groups either. So we Phoned our Geneticist and told her what the Neurosurgeon had said and Her response was Stunned silence and what makes him think that. After a very politically correct way of saying that although she disagrees with the diagnosis she can't blatantly say he's wrong but she does not feel that Tehrah falls into any of the variations of Blephs. Okay so now we sit not knowing who'e right and who's wrong, both the Neurosurgeon and the Geneticist have picked up these dysmorphisms. Low Muscle Tone (She's been going to Physiotherapy since she was 7 Months old) Arched feet, eyes slightly wider apart than normal, width of eyes shorter than normal, Droopy left eyelid mostly evident when she's tired (her mother has exactly the same droop to her eyelid when she's tired), Ears that protrude (My ears did the same when I was her age and naturally flattened as I got older) a light brown birthmark on her chest MRI's showed A microstroke that occured when she was in the womb a Shortening of the Corpus Callosum ourQuestion is does Tehrahs symptoms seem to match any of your experiences of Blephs or do any of you oryour children have any of the above symptoms? We would appreciate any and all input Best regards ita and Garren Amdur How much free photo storage do you get? Store your holiday snaps for FREE with Photos. Get Photos Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 23, 2005 Report Share Posted October 23, 2005 I have to agree - Tehrah doesn't look like she has bleph to me. (I am NOT a doctor. LOL!) Our son's pictures are under " Eisele Family " and you can see him before and after surgery. Hoping you can find some answers! She is adorable! April --- costellos <tltne@...> wrote: > Welcome to the group:) > > I just looked at the pix of your wee girl, Her eye > openings don't resemble a > child with bleph? the characteristics of bleph are > very small eye openings, > epicanthal folds on the inner corner of each eye, > (an extra fold of skin > going upwards to the eye) A wide flat bridge between > the eyes, she doesn't > look like she has that? droopy top eyelids that > usually sits on or slightly > above the pupil depending on the severity, Our son > Ethan has all that, > diagnosed at birth, he is 2 1/2 years old also, but > has not had any surgery > as the opthalmologist said as long as his pupil is > exposed he see's like you > or I, he runs around like any other child his age:) > he has never tilted his > head back to see, just slightly raises his > eyebrows:) Ethan has the wide > flat bridge between his eyes, small eye openings, > his right ear especially, > bends over at the top, definately the droopy top > eyelids, no birthmarks, > doesn't have low muscle tone, but Leah, also from > NZ, has a son Ethan to, he > is 6 years old and does have low muscle tone, he > still has to be in diapers, > there are different severities to the condition that > some people have and > some people do not? Our opthalmologist said he may > do surgery on Ethan when > he is between 4-5 years old? it all depends on his > vision and how it is been > affected and at the moment it isn't compromised so > its all good:) There are > pix of him at the site, he is the younger > Ethan in the pumpkin > outfit:) > > Leanne-Christchurch, NZ > > -- blepharophimosis Tehrah > > Hi All > > Our Daughter Tehrah (pictures uploaded under > Tehrah)who is now 2 1/2 years > old has recently been diagniosed as having > blepharophimosis by a Peadiatric > neurosurgeon who has a reputation for finding causes > for problems when > everyone else is stumped. > > We have been to a genetiscist when Tehrah was one > years old and again when > she turned Two both times the geneticist said she > felt that there was a > genetic component to Tehrah Delayed development and > Low Muscle Tone but that > she did not find a syndrome which Tehrah falls into. > > Finally having an Answer from the Neurosurgeon we > rushed out and began > frantically researching blepharophimosis. Only to > find that Tehrah didn't > seem to classicaly fall into this/these groups > either. So we Phoned our > Geneticist and told her what the Neurosurgeon had > said and Her response was > Stunned silence and what makes him think that. After > a very politically > correct way of saying that although she disagrees > with the diagnosis she can > t blatantly say he's wrong but she does not feel > that Tehrah falls into any > of the variations of Blephs. > > Okay so now we sit not knowing who'e right and who's > wrong, both the > Neurosurgeon and the Geneticist have picked up these > dysmorphisms. > > Low Muscle Tone (She's been going to Physiotherapy > since she was 7 Months > old) > > Arched feet, > > eyes slightly wider apart than normal, > > width of eyes shorter than normal, > > Droopy left eyelid mostly evident when she's tired > (her mother has exactly > the same droop to her eyelid when she's tired), > > Ears that protrude (My ears did the same when I was > her age and naturally > flattened as I got older) > > a light brown birthmark on her chest > > MRI's showed > > A microstroke that occured when she was in the womb > > a Shortening of the Corpus Callosum > > > ourQuestion is does Tehrahs symptoms seem to match > any of your experiences > of Blephs or do any of you oryour children have any > of the above symptoms? > > We would appreciate any and all input > > Best regards > > ita and Garren Amdur > > > > > > How much free photo storage do you get? Store your > holiday snaps for FREE > with Photos. Get Photos > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 30, 2005 Report Share Posted October 30, 2005 Hi there, this is the Leah from NZ with the other Ethan. I have not yet looked at your pic but just wanted to say that my Ethan also has low muscletone (is still in nappies at 6 yrs old) and had the delayed development. He didnt walk till nearly 2. His fine motor skills are terrible and balance is a big issue for him. Good luck in finding some answers for your daughter, they WILL be there somewhere. Take Care blepharophimosis Tehrah Hi All Our Daughter Tehrah (pictures uploaded under Tehrah)who is now 2 1/2 years old has recently been diagniosed as having blepharophimosis by a Peadiatric neurosurgeon who has a reputation for finding causes for problems when everyone else is stumped. We have been to a genetiscist when Tehrah was one years old and again when she turned Two both times the geneticist said she felt that there was a genetic component to Tehrah Delayed development and Low Muscle Tone but that she did not find a syndrome which Tehrah falls into. Finally having an Answer from the Neurosurgeon we rushed out and began frantically researching blepharophimosis. Only to find that Tehrah didn't seem to classicaly fall into this/these groups either. So we Phoned our Geneticist and told her what the Neurosurgeon had said and Her response was Stunned silence and what makes him think that. After a very politically correct way of saying that although she disagrees with the diagnosis she can't blatantly say he's wrong but she does not feel that Tehrah falls into any of the variations of Blephs. Okay so now we sit not knowing who'e right and who's wrong, both the Neurosurgeon and the Geneticist have picked up these dysmorphisms. Low Muscle Tone (She's been going to Physiotherapy since she was 7 Months old) Arched feet, eyes slightly wider apart than normal, width of eyes shorter than normal, Droopy left eyelid mostly evident when she's tired (her mother has exactly the same droop to her eyelid when she's tired), Ears that protrude (My ears did the same when I was her age and naturally flattened as I got older) a light brown birthmark on her chest MRI's showed A microstroke that occured when she was in the womb a Shortening of the Corpus Callosum ourQuestion is does Tehrahs symptoms seem to match any of your experiences of Blephs or do any of you oryour children have any of the above symptoms? We would appreciate any and all input Best regards ita and Garren Amdur How much free photo storage do you get? Store your holiday snaps for FREE with Photos. Get Photos Quote Link to comment Share on other sites More sharing options...
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