New to group- my son is being tested for CHARGE

May 9, 2006

Nona,

Welcome to the group, my daughter Eva has CHARGE and is 13 months

old. She has one kidney, and ASD and a PDA of the heart, colubomas,

hearing loss, and facial paralysis on the right side of her face.

She also has a g-tube because she didnt pass her 1st swallow study.

But she pass in Nov. but we are still working on it. She also just

had open heart surgery to close her ASD a week ago.

I hope you get some answers with your sons test and he does well

with everything he does.

As for the pictures click on links and then click on CHARGE photo

album.

Hugs,

Crystal mom of 3, (10), (3), and Eva (13 month old

CHARGEr)

>

> Hello everyone-

>

> My 23 month old son Jake is having his blood drawn Wednesday,

to

> be tested for the genetic defect (I think discovered recently)

which

> is found in some CHARGErs. It is going to be shipped

internationally,

> (we live in the USA). I was interested in learning if very many

of

> you have done this test, and any information you may have about

it.

> My son was born with bilateral micropthalmia (which is a severe

form

> of colombola), micro penis and micro testes, microcephaly and

growth

> retardation. He is blind with a small amount of sight that helps

him

> navigate. Just recently he did not pass the hearing test on his

left

> side, but did fine on the right. His left eye is also his

sightless

> eye. I do believe he has the characteristic ears as well. He has

> surpised and amazed everyone by hitting his milestones on time,

but

> is now starting to show a 3-4 month delay in fine motor skills. I

> would love to chat with anyone with a similar child. I was also

> wondering about Growth Hormone. Are many of you/your children

taking

> it? I have pushed and pushed for it, and I'm scheduling our 3rd

> opinion pedi endocrinologist appt. So far because we do not have

a

> name for what Jake has, and he seems to be so unique, everyone

wants

> to " wait and see. " Jake does not have any heart defects, or

choanal

> atresia that we know of. He does have some mild reflux issues and

a

> big problem gaining weight. Is that common amongst CHARGE kids?

He

> is technically failure to thrive. Thanks for listening. Any

> information would be greatly appreciated. Also, I tried to view

> photo's but couldn't see any. Is there a trick to this?

>

> Nona Mom to Jake 23 mos. and Nick 7

>

May 9, 2006

Nona,

Welcome to the group, my daughter Eva has CHARGE and is 13 months

old. She has one kidney, and ASD and a PDA of the heart, colubomas,

hearing loss, and facial paralysis on the right side of her face.

She also has a g-tube because she didnt pass her 1st swallow study.

But she pass in Nov. but we are still working on it. She also just

had open heart surgery to close her ASD a week ago.

I hope you get some answers with your sons test and he does well

with everything he does.

As for the pictures click on links and then click on CHARGE photo

album.

Hugs,

Crystal mom of 3, (10), (3), and Eva (13 month old

CHARGEr)

>

> Hello everyone-

>

> My 23 month old son Jake is having his blood drawn Wednesday,

to

> be tested for the genetic defect (I think discovered recently)

which

> is found in some CHARGErs. It is going to be shipped

internationally,

> (we live in the USA). I was interested in learning if very many

of

> you have done this test, and any information you may have about

it.

> My son was born with bilateral micropthalmia (which is a severe

form

> of colombola), micro penis and micro testes, microcephaly and

growth

> retardation. He is blind with a small amount of sight that helps

him

> navigate. Just recently he did not pass the hearing test on his

left

> side, but did fine on the right. His left eye is also his

sightless

> eye. I do believe he has the characteristic ears as well. He has

> surpised and amazed everyone by hitting his milestones on time,

but

> is now starting to show a 3-4 month delay in fine motor skills. I

> would love to chat with anyone with a similar child. I was also

> wondering about Growth Hormone. Are many of you/your children

taking

> it? I have pushed and pushed for it, and I'm scheduling our 3rd

> opinion pedi endocrinologist appt. So far because we do not have

a

> name for what Jake has, and he seems to be so unique, everyone

wants

> to " wait and see. " Jake does not have any heart defects, or

choanal

> atresia that we know of. He does have some mild reflux issues and

a

> big problem gaining weight. Is that common amongst CHARGE kids?

He

> is technically failure to thrive. Thanks for listening. Any

> information would be greatly appreciated. Also, I tried to view

> photo's but couldn't see any. Is there a trick to this?

>

> Nona Mom to Jake 23 mos. and Nick 7

>

May 9, 2006

Nona,

Welcome to the group, my daughter Eva has CHARGE and is 13 months

old. She has one kidney, and ASD and a PDA of the heart, colubomas,

hearing loss, and facial paralysis on the right side of her face.

She also has a g-tube because she didnt pass her 1st swallow study.

But she pass in Nov. but we are still working on it. She also just

had open heart surgery to close her ASD a week ago.

I hope you get some answers with your sons test and he does well

with everything he does.

As for the pictures click on links and then click on CHARGE photo

album.

Hugs,

Crystal mom of 3, (10), (3), and Eva (13 month old

CHARGEr)

>

> Hello everyone-

>

> My 23 month old son Jake is having his blood drawn Wednesday,

to

> be tested for the genetic defect (I think discovered recently)

which

> is found in some CHARGErs. It is going to be shipped

internationally,

> (we live in the USA). I was interested in learning if very many

of

> you have done this test, and any information you may have about

it.

> My son was born with bilateral micropthalmia (which is a severe

form

> of colombola), micro penis and micro testes, microcephaly and

growth

> retardation. He is blind with a small amount of sight that helps

him

> navigate. Just recently he did not pass the hearing test on his

left

> side, but did fine on the right. His left eye is also his

sightless

> eye. I do believe he has the characteristic ears as well. He has

> surpised and amazed everyone by hitting his milestones on time,

but

> is now starting to show a 3-4 month delay in fine motor skills. I

> would love to chat with anyone with a similar child. I was also

> wondering about Growth Hormone. Are many of you/your children

taking

> it? I have pushed and pushed for it, and I'm scheduling our 3rd

> opinion pedi endocrinologist appt. So far because we do not have

a

> name for what Jake has, and he seems to be so unique, everyone

wants

> to " wait and see. " Jake does not have any heart defects, or

choanal

> atresia that we know of. He does have some mild reflux issues and

a

> big problem gaining weight. Is that common amongst CHARGE kids?

He

> is technically failure to thrive. Thanks for listening. Any

> information would be greatly appreciated. Also, I tried to view

> photo's but couldn't see any. Is there a trick to this?

>

> Nona Mom to Jake 23 mos. and Nick 7

>

May 9, 2006

Nona,

Welcome to the group. You are getting tons of info so I doubt I can add

more. Everyone on here is great in that way. You'll love it here.

Bonnie, Mom to a 23, Patty CHARGE 21, and wife to

May 9, 2006

nona welcome im ellen nearly 21 year old charger from what you described

jake has charge my gyuess is that the gene test for anyone in here wondering

would of gone to holland coz its the main place for it meg are you out there

for that one please meg is our genes lady and we all call on her when were

stuck on soemthing LOL shes the best bet shes blushing when she reads lol

but yeah ive got colibomas celft palate hearing loss reflux growoth probs as

chrystal said and michlelle said the genes often not found but it doesnt

mean we donthave it i havent been tested its quite new and dont know if its

in aus yet but i know im a charger

>

> Nona,

> Welcome to the group, my daughter Eva has CHARGE and is 13 months

> old. She has one kidney, and ASD and a PDA of the heart, colubomas,

> hearing loss, and facial paralysis on the right side of her face.

> She also has a g-tube because she didnt pass her 1st swallow study.

> But she pass in Nov. but we are still working on it. She also just

> had open heart surgery to close her ASD a week ago.

> I hope you get some answers with your sons test and he does well

> with everything he does.

> As for the pictures click on links and then click on CHARGE photo

> album.

>

> Hugs,

> Crystal mom of 3, (10), (3), and Eva (13 month old

> CHARGEr)

>

> >

> > Hello everyone-

> >

> > My 23 month old son Jake is having his blood drawn Wednesday,

> to

> > be tested for the genetic defect (I think discovered recently)

> which

> > is found in some CHARGErs. It is going to be shipped

> internationally,

> > (we live in the USA). I was interested in learning if very many

> of

> > you have done this test, and any information you may have about

> it.

> > My son was born with bilateral micropthalmia (which is a severe

> form

> > of colombola), micro penis and micro testes, microcephaly and

> growth

> > retardation. He is blind with a small amount of sight that helps

> him

> > navigate. Just recently he did not pass the hearing test on his

> left

> > side, but did fine on the right. His left eye is also his

> sightless

> > eye. I do believe he has the characteristic ears as well. He has

> > surpised and amazed everyone by hitting his milestones on time,

> but

> > is now starting to show a 3-4 month delay in fine motor skills. I

> > would love to chat with anyone with a similar child. I was also

> > wondering about Growth Hormone. Are many of you/your children

> taking

> > it? I have pushed and pushed for it, and I'm scheduling our 3rd

> > opinion pedi endocrinologist appt. So far because we do not have

> a

> > name for what Jake has, and he seems to be so unique, everyone

> wants

> > to " wait and see. " Jake does not have any heart defects, or

> choanal

> > atresia that we know of. He does have some mild reflux issues and

> a

> > big problem gaining weight. Is that common amongst CHARGE kids?

> He

> > is technically failure to thrive. Thanks for listening. Any

> > information would be greatly appreciated. Also, I tried to view

> > photo's but couldn't see any. Is there a trick to this?

> >

> > Nona Mom to Jake 23 mos. and Nick 7

> >

>

> CHARGE SYNDROME LISTSERV PHOTO PAGE:

> http://www.imagestation.com/album/?id=2117043995

>

> Membership of this email support group does not constitute membership in

> the CHARGE Syndrome Foundation; for information about the CHARGE Syndrome

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

> please contact marion@... or visit

> the web site at http://www.chargesyndrome.org

>

> 8th International

> CHARGE Syndrome Conference, July, 2007. Information will be available at

> www.chargesyndrome.org or by calling 1-.

>

May 9, 2006