Guest guest Posted April 9, 2012 Report Share Posted April 9, 2012 Has a swallow function study been done? I have a friend who has a 3.5 year old daughter, she cannot speak is very happy and toe walks. There is something peculiar about the way she looks, and the experts said she has some facial features that aren't quite Downs syndrome looking but the word they used started with an M, like mor.........Does anyone have any suggestions? They did genetic tesing etc. and came up with nothing. I suggested he go to a DAN doc to better diagnose. She also has something wrong with her pallet and takes a long time to eat and swallow. I'm worried if not addressed, too much time will go by with a loss of language and learning. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 9, 2012 Report Share Posted April 9, 2012 ? I think they're trying to figure out what's wrong with her first, i.e., syndrome, disease, genetic? they've been ruling things out along the wayTo: miralax Sent: Mon, April 9, 2012 5:36:58 PMSubject: Re: suggestion Has a swallow function study been done? I have a friend who has a 3.5 year old daughter, she cannot speak is very happy and toe walks. There is something peculiar about the way she looks, and the experts said she has some facial features that aren't quite Downs syndrome looking but the word they used started with an M, like mor.........Does anyone have any suggestions? They did genetic tesing etc. and came up with nothing. I suggested he go to a DAN doc to better diagnose. She also has something wrong with her pallet and takes a long time to eat and swallow. I'm worried if not addressed, too much time will go by with a loss of language and learning. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 9, 2012 Report Share Posted April 9, 2012 This is what they thought it was....................thanks TammyAngelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities. Symptoms of Angelman syndrome include unstable jerky gait, hand flapping, unusually happy demeanor, developmental delay, lack of or diminished speech, and microcephaly (small head). Epilepsy may develop in the early years of life, however it may decrease with age. Patients may also have balance problems.Links To: miralax Sent: Mon, April 9, 2012 6:17:50 PMSubject: Re: suggestion ? I think they're trying to figure out what's wrong with her first, i.e., syndrome, disease, genetic? they've been ruling things out along the wayTo: miralax Sent: Mon, April 9, 2012 5:36:58 PMSubject: Re: suggestion Has a swallow function study been done? I have a friend who has a 3.5 year old daughter, she cannot speak is very happy and toe walks. There is something peculiar about the way she looks, and the experts said she has some facial features that aren't quite Downs syndrome looking but the word they used started with an M, like mor.........Does anyone have any suggestions? They did genetic tesing etc. and came up with nothing. I suggested he go to a DAN doc to better diagnose. She also has something wrong with her pallet and takes a long time to eat and swallow. I'm worried if not addressed, too much time will go by with a loss of language and learning. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 9, 2012 Report Share Posted April 9, 2012 Does anyone know the best medical specialist for diagnosing this kind of syndrome? To: miralax Sent: Mon, April 9, 2012 6:36:55 PMSubject: Re: suggestion This is what they thought it was....................thanks TammyAngelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities. Symptoms of Angelman syndrome include unstable jerky gait, hand flapping, unusually happy demeanor, developmental delay, lack of or diminished speech, and microcephaly (small head). Epilepsy may develop in the early years of life, however it may decrease with age. Patients may also have balance problems.Links To: miralax Sent: Mon, April 9, 2012 6:17:50 PMSubject: Re: suggestion ? I think they're trying to figure out what's wrong with her first, i.e., syndrome, disease, genetic? they've been ruling things out along the wayTo: miralax Sent: Mon, April 9, 2012 5:36:58 PMSubject: Re: suggestion Has a swallow function study been done? I have a friend who has a 3.5 year old daughter, she cannot speak is very happy and toe walks. There is something peculiar about the way she looks, and the experts said she has some facial features that aren't quite Downs syndrome looking but the word they used started with an M, like mor.........Does anyone have any suggestions? They did genetic tesing etc. and came up with nothing. I suggested he go to a DAN doc to better diagnose. She also has something wrong with her pallet and takes a long time to eat and swallow. I'm worried if not addressed, too much time will go by with a loss of language and learning. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 9, 2012 Report Share Posted April 9, 2012 Is it Marfan's syndrome? > > I have a friend who has a 3.5 year old daughter, she cannot speak is very happy > and toe walks. There is something peculiar about the way she looks, and the > experts said she has some facial features that aren't quite Downs syndrome > looking but the word they used started with an M, like mor......... > Does anyone have any suggestions? They did genetic tesing etc. and came up with > nothing. I suggested he go to a DAN doc to better diagnose. She also has > something wrong with her pallet and takes a long time to eat and swallow. I'm > worried if not addressed, too much time will go by with a loss of language and > learning. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 9, 2012 Report Share Posted April 9, 2012 He said the doctor said she has dismorphic features To: miralax Sent: Mon, April 9, 2012 7:33:19 PMSubject: Re: suggestion Is it Marfan's syndrome? > > I have a friend who has a 3.5 year old daughter, she cannot speak is very happy > and toe walks. There is something peculiar about the way she looks, and the > experts said she has some facial features that aren't quite Downs syndrome > looking but the word they used started with an M, like mor......... > Does anyone have any suggestions? They did genetic tesing etc. and came up with > nothing. I suggested he go to a DAN doc to better diagnose. She also has > something wrong with her pallet and takes a long time to eat and swallow. I'm > worried if not addressed, too much time will go by with a loss of language and > learning. > Quote Link to comment Share on other sites More sharing options...
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