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Jean Maurer
mardi 8 mai 2007 21:06
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I think it is interesting that Safdar writes that he was diagnosed with Multiple Sclerosis and there is AGS in the family also because our daughter has AGS and my mother-in-law has Multiple Sclerosis. I have often wondered, and even asked Dr. Crow, if there is a connection between these two conditions. I notice my daughter makes the same motions with her body as my mother-in-law and they just seem so similar. Does anyone else have a Multiple Sclerosis/AGS connection in their family?
Beverly Wical, MD
samedi 28 avril 2007 03:04
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Hello to the families...gabapentin is sometimes very useful in children with irritability from neurologic disorders. This is not meant to be specific medical advice to anyone, but may be something very useful to discuss with your neurologist. (One of my patients has a variant of A-GS).
safdar
mercredi 25 avril 2007 12:12
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My Niece was born in 1997 and after almost 10 years she has now (last week)been diagnosed with AGS. Initially there were half hearted comments regarding the fact that both of Zaibans parents are 1st cousins - as if this is the result of marriage between 1st cousins - Zaiban is an absolute joy, althought her addiction to wrestling (WWE) is a cause of concern to me, but no ones perfect. A little bit of our history we are British Pakistani (Kashmiri) Muslims, my father came to the UK in 1961, my mum and brothers joined him in 1969. I am the youngest and was diagnosed with multiple sclerosis in 1992 at the ripe old age of 21 ! Zaiban is the youngest child of my brother and his cousin, she has 2 sisters and 1 brother all of whom spoil her terribly but some people are more special than others. Anyway, after looking around I found this site and hope that we will all see and learn from one another. Peace.
Dee Lopez
lundi 26 février 2007 16:41
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Hi our grandson was diagnosed with AGS at 2 months as soon as we got the diagnosis we put him on L Carnitine. One month later they did a spinal tap and sent the fluid to France for testing, a month later it came back positive. Also the levels were too low for normal they said usually the levels did not get that low until the brain was mush (not their word) and he has been progerssing since, can roll over follow with eyes, the L Carnite seemed to immediatly stop the constant crying! They are now suggesting cerebral paley but his spinal fluid tested positive for interferon. So??? I think maybe the L carnitine is effective as treatment to slow/stop brain destruction? He is 2 1/2 and in PT to sit up walk etc and it is slow going. No chilblains etc. Very small for his age 24 lbs.
Cheryl
mercredi 21 février 2007 20:43
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Hello All,
I was wondering if anyone has ever had genetic testing done? My 14 month old has been diagnosed with Pseudo-Torch. However is quite a few articles I have found online link Aicardi-Goutieres and Pseudo-Torch as the same.
We had CMA testing done at Baylor University in the US and it showed he has a gain copy number in the terminal region of the long arm of chromosome 4q35.2 detected with 4 clones. And, neither my husband nor I have this duplication. But they have no other children like my son to compare the results to. In order to truly determine if his duplication is the cause of his abnormalities they need other children like him to be tested and see if they come up with the same chromosomal abnormalities.
My son have cerebral atrophy with calcifications and is deaf, blind (bilateral retinal detachment), spastic (which makes him very irritable), cerebral palsy, hydro-cephalic (shunted), seizers, feeding issues and still can not hold his head up or roll over.
Feel free to contact me if you have further information or have questions. We are in Florida in the US.
I was wondering if anyone has ever had genetic testing done? My 14 month old has been diagnosed with Pseudo-Torch. However is quite a few articles I have found online link Aicardi-Goutieres and Pseudo-Torch as the same.
We had CMA testing done at Baylor University in the US and it showed he has a gain copy number in the terminal region of the long arm of chromosome 4q35.2 detected with 4 clones. And, neither my husband nor I have this duplication. But they have no other children like my son to compare the results to. In order to truly determine if his duplication is the cause of his abnormalities they need other children like him to be tested and see if they come up with the same chromosomal abnormalities.
My son have cerebral atrophy with calcifications and is deaf, blind (bilateral retinal detachment), spastic (which makes him very irritable), cerebral palsy, hydro-cephalic (shunted), seizers, feeding issues and still can not hold his head up or roll over.
Feel free to contact me if you have further information or have questions. We are in Florida in the US.
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