DERIN

[Guest guest]

Hi: There is not as yet a genetics test for CHARGE. This list is a

good place for you to keep updated on any information, as well as to

join the CHARGE foundation in the US. Could you give us more info. on

why she lost sight in her eye? Was it a retinal detatchment? Where are

the coloboma in her eye--on the retina, macula, ......??? Usually the

children with coloboma do not normally loose vision. The two things

that can happen are they are at a greater risk for glaucoma, or fluid

buildup and pressure, especially with eyes that may have been smaller;

and the retina can become detatched, especially if the coloboma is

severe. If the retinal detatchment is caught within a two day period,

it can often be successfully reattatched with surgery. For appearance,

there is a contact lens that can fit over the eye with no vision, that

can be made to look like and match her other eye. Hope this info. is

helpful.

ANN GLOYN, Deafblind and Special Education Specialist, Canada

gurceg@... wrote:

> I have a 1 1/2 year old niece who was diagnosed with Charge

> Syndrome. We live in Turkey and we couldn't get find a clinic

> which could help us in this manner. When she was 9 days old she

> had a heart surgery. She has asthma and an anomaly in her ear

> but the doctors say she does not seem to have a hearing loss (or

> if any not much).She has colobomus in her both eye and she

> recently lost one of her eye sight. However, they dont know or

> cannot guarantee that she will not loose the other. She does not

> have any abnormality in her genital development. She is growing

> and learning slowly but due to severe health conditions/surgery

> when she was an infant and due to lack of her vision. Is there

> anyone who we can contact or can help us to get answers for our

> questions? Our concerns are: 1.Can we do anything for her not to

> loose her one (and only left) vision? The eye which she lost

> her vision is now smaller than the other, can she have surgery

> to enlarge that at least for estatical purposes? 2. They don't

> know if she has any mental disorders or illnesses. How can we

> learn for sure or at what age she has to be for that diagnosis?

> 3. Are there any organizations available which can help for her

> situation because there are no genetic clinics available in

> Turkey for advanced check? They couldn't do an advanced chromose

> test in Turkey. It is so hard to pay for her medical expenses by

> family sources alone if we can find a clinic in U.S or anywhere

> in world. We appreciate all your time and looking forward to

> hearing from you. We pray for all..Thank you so much.

>

>

>

>

> " 5th International CHARGE Syndrome Conference, Indianapolis, Indiana, July

> 20-22, 2001. Information will be available first in CHARGE Accounts, the

> CHARGE Syndrome Foundation's newsletter. "

>

> For information about the CHARGE Syndrome

> Foundation or to become a member (and get the newsletter)

> please contact marion@... or visit

> the CHARGE Syndrome Foundation web page

> at http://www.chargesyndrome.org

>

>

[Guest guest]

Resources vary from country to country so your best

source of information will be local parents. They

don't necessarily have to be parents of children with

CHARGE Syndrome but parents of any child with special

needs such as Down's Syndrome or autism.

You don't need a Geneticist necessarily, but a good

pediatrician who is willing to learn about CHARGE.

Buy the CHARGE manual from the CHARGE Foundation for

$20US and make photocopies of the pages you need to

review with your child's doctors. You didn't mention

the kidney--she should have a sonogram and other tests

to rule out any kidney problems llike missing a

kidney, misshaped kidney, kidney reflux, obstruction,

etc.

Developmental delays can be tested on any child after

birth. Mental retardation is usually not diagnosed

until age 5, though kids with hearing/visual

impairments and motor delays will usually not test

accurately unless accommodations to the test are made.

Other parents will be your best source of information

regarding your country's services for children with

developmental delays. Call your pediatric hospital,

rehabilitation hospital, social workers, special ed

dept at school, etc. Try to get in touch with parents

through these agencies. They may be able to help you

get in touch with funding sources and services.

Jeanne

__________________________________________________

[Guest guest]

Thank you so much..We appreciate all advice and

information. Thanks again..

--- J McMullen wrote:

> Resources vary from country to country so your best

> source of information will be local parents. They

> don't necessarily have to be parents of children

> with

> CHARGE Syndrome but parents of any child with

> special

> needs such as Down's Syndrome or autism.

>

> You don't need a Geneticist necessarily, but a good

> pediatrician who is willing to learn about CHARGE.

> Buy the CHARGE manual from the CHARGE Foundation for

> $20US and make photocopies of the pages you need to

> review with your child's doctors. You didn't

> mention

> the kidney--she should have a sonogram and other

> tests

> to rule out any kidney problems llike missing a

> kidney, misshaped kidney, kidney reflux,

> obstruction,

> etc.

>

> Developmental delays can be tested on any child

> after

> birth. Mental retardation is usually not diagnosed

> until age 5, though kids with hearing/visual

> impairments and motor delays will usually not test

> accurately unless accommodations to the test are

> made.

>

> Other parents will be your best source of

> information

> regarding your country's services for children with

> developmental delays. Call your pediatric hospital,

> rehabilitation hospital, social workers, special ed

> dept at school, etc. Try to get in touch with

> parents

> through these agencies. They may be able to help

> you

> get in touch with funding sources and services.

>

> Jeanne

>

>

> __________________________________________________

>