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#26976 - 10/15/10 02:32 AM reaching out for some help/advice
Teosmama Offline
New member

Registered: 10/15/10
Posts: 2
Loc: Bay Area California
my son was born with xp22 chromosome deletion x-linked ichthyosis. I am trying to research as much as i can about his disorder, he has a very mild case of ichthyosis, but i am concerned with other areas like his speech and behavor issues. I am hoping to find anyone who has children with the same or similar disorder any information is greatly appreciated! tahnk you
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Tiffany Fowler

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#26977 - 10/15/10 02:48 AM Re: reaching out for some help/advice [Re: Teosmama]
Les Avakian Offline


Member

Registered: 08/13/00
Posts: 680
Loc: Fresno, Calif. USA 93705
Hello Tiffany
Welcome to our ichthyosis bulletin board. I am Les Avakian, from Fresno,CA and have x linked ichthyosis. Some of the best ichthyosis doctors in the world are located at the University of Calif. San Francisco and can do genetic testing to reveal the size of the deletion in the short arm of Xp.22. Our ichthyosis foundation FIRST can also supply x-linked information and our website is:www.firstskinfoundation.org or you can contact our staff at:info@firstskinfoundation.org. I will defer to the x-linked carrier mothers who are more informed with the specific information you seek. Take care Tiffany and I hope to see more of your posts.
Sincerely,
Les
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Les Avakian

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#26978 - 10/15/10 03:13 AM Re: reaching out for some help/advice [Re: Les Avakian]
Teosmama Offline
New member

Registered: 10/15/10
Posts: 2
Loc: Bay Area California
Thank you very much for responding so fast. I appreciate it. My son is 6 will be 7 in march. He has kallmans syndrome, short stature and chondrodysplasia and mental retardation, his ichthyosis is the mildest thing. I am struggling with understanding the developmental side of all theses disorders. He is struggling the most in speech he is at about 6-12month level but his receptive language is higher. And now his behavior is getting to be very overwhelming and he struggles daily with listening and screaming alot out of excitement or anger. In school he struggles with paying attention and hyperness(this is alos at home too).He drifts off in too a blank stare at times. He has always had a little "ocd" but now its getting worse and he becomes very repetive with things. There is so much more i can go on about but some of the main issues im struggling with, and i dont know how much docters can answer. Would be nice to hear about otehr stories and how other parents deal with these type of things. Once again thank you for advice it is appreciated.
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Tiffany Fowler

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#26979 - 10/15/10 06:55 AM Re: reaching out for some help/advice [Re: Teosmama]
Power4Ic Offline
Member

Registered: 06/21/09
Posts: 17
maybe i can help, do you have msn or something? please message me!


Edited by Power4Ic (10/15/10 07:01 AM)

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#26980 - 10/15/10 11:26 AM Re: reaching out for some help/advice [Re: Power4Ic]
jrmiss86 Offline
Member

Registered: 06/07/05
Posts: 378
Loc: Marlton, NJ, USA
I sent you an e-mail.
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Heather
Mom to:
Alex (xli and Kallmans - 2/3/05)
Liz (3/16/07)

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