New to group- my son is being tested for CHARGE

[Guest guest]

hi, nice to meet you!!! im really a newcomer too. my little chrystine has

colobomas, heart defect asd and vsd, fell off the growth charts after birth- she

is so little and very little appetite (g tube for feedings) also severe

gsrd, she has kidney disease-only 16% function in her right kidney, and none in

her left, grade 4 vesicoureteral reflux in both... she has hearing loss in her

left ear, and the outer appearance of charge... her left eye has limited

vision... left leg has little strength. she also has the hockey stick thumbs,

they are actually soooo cute. she is 6months old. so, anyhow-docs are putting

it all together, the left side of her body has so many limitations.

the genetic testing may rule your son out when he really does have charge?

our geneticist told us that recently. she said she doesnt like that dna test

because so many of these children will be ruled out when they really do have

this syndrome.

[Guest guest]

Hi Nona,

Welcome to the list

My son had blood taken last October to test for the CHD7 gene. We had a

phone call a couple of weeks ago to say that they have found a deletion but the

full results will take another couple of weeks. Do you know where they are

sending Jake's blood sample to? Jack's was tested in Birmingham U.K.

Jack was and still is very small for his age. He is not growth hormone

deficient but he was put on GH shots for a couple of years when he was 3. It did

make a difference initially but it then levelled off and we decided to stop. He

is almost 9yrs old now and is the size of an average 5yr old.

Take care.

Elaine mum to Elise(13yrs) & Jack(8yrs) CHaRGE

Scotland

[Guest guest]

Hi Nona,

Welcome to the list

My son had blood taken last October to test for the CHD7 gene. We had a

phone call a couple of weeks ago to say that they have found a deletion but the

full results will take another couple of weeks. Do you know where they are

sending Jake's blood sample to? Jack's was tested in Birmingham U.K.

Jack was and still is very small for his age. He is not growth hormone

deficient but he was put on GH shots for a couple of years when he was 3. It did

make a difference initially but it then levelled off and we decided to stop. He

is almost 9yrs old now and is the size of an average 5yr old.

Take care.

Elaine mum to Elise(13yrs) & Jack(8yrs) CHaRGE

Scotland

[Guest guest]

Hi Nona,

Welcome to the list

My son had blood taken last October to test for the CHD7 gene. We had a

phone call a couple of weeks ago to say that they have found a deletion but the

full results will take another couple of weeks. Do you know where they are

sending Jake's blood sample to? Jack's was tested in Birmingham U.K.

Jack was and still is very small for his age. He is not growth hormone

deficient but he was put on GH shots for a couple of years when he was 3. It did

make a difference initially but it then levelled off and we decided to stop. He

is almost 9yrs old now and is the size of an average 5yr old.

Take care.

Elaine mum to Elise(13yrs) & Jack(8yrs) CHaRGE

Scotland

[Guest guest]

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

[Guest guest]

Hi Nona,

Wanted to say welcome. I am a 27 year old CHARGE adult living in Vancouver, BC.

I was born with the bilateral cleft palate, coloboma, snipped left ear and

decreased hearing in my right. I am also quite short, but that actually runs in

my family, so it may not be a CHARGE related thing. I hope you find this list as

useful as I have! Welcome.

Nieder

New to group- my son is being tested for CHARGE

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-.

[Guest guest]

Hi Nona,

Wanted to say welcome. I am a 27 year old CHARGE adult living in Vancouver, BC.

I was born with the bilateral cleft palate, coloboma, snipped left ear and

decreased hearing in my right. I am also quite short, but that actually runs in

my family, so it may not be a CHARGE related thing. I hope you find this list as

useful as I have! Welcome.

Nieder

New to group- my son is being tested for CHARGE

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-.

[Guest guest]

Nona-

Welcome to the list. My daughter, Aubrie, is 8 yrs old. She had the blood

test done thru a study at Baylor University. Many of the kids involved with

the CHARGE Foundation are involved in this test. They were working to find

a gene as well. Aubrie tested negative for the CHD7 mutation, but we are

sure she has CHARGE. My guess is that there is more than one gene involved.

Having the definite dx from the testing can help to confirm if doctors are

hesitant to give a dx. But getting a negative from the testing does not

mean a definite no. Either there are more genes that can be involved or the

testing isn't sophisticated enough to pick up some mutations. Does that

make sense?

Aubrie also had failure to thrive as an infant. She was tube fed and did

have heart issues. She also had severe GE reflux. So we could blame her

lack of growth on those factors. But then the reflux resolved, the heart

issues resolved, and still she is very small for her age. She looks more

like a kindergartener than a 2nd grader. She is just under 50 lbs and just

shy of 50 " tall. Many kids with CHARGE are small in stature and have slow

growth. We don't know all of the reasons why. Some kids test deficient for

growth hormone and respond well the therapy. Others test fine as far as

their GH levels but still don't grow well.

The big message of the CHARGE Foundation conference 3 years ago was that

every child should be followed by an endocrinologist from infancy on -- for

growth issues and to monitor and address puberty issues in a proactive way.

We saw our endo first last year and are continuing to monitor Aubrie's

growth. While she is small, she is following an adequate growth curve.

She's actually grown more in the past year than in any past year. So we

haven't considered testing for GH deficiency yet.

It sounds to me like you are on the right track in getting that 3rd opinion.

You sound very well-informed. Do you have the latest info on growth issues?

I'm not sure what's out there -- but the CHARGE Foundation could direct you,

I would think.

It's so encouraging that Jake is reaching his developmental milestones on

time! I look forward to getting to know you both more. The list here is

wonderful in answering questions and offering support. I couldn't have made

the difficult decisions we've faced without the knowledge and support here!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

[Guest guest]

Nona-

Welcome to the list. My daughter, Aubrie, is 8 yrs old. She had the blood

test done thru a study at Baylor University. Many of the kids involved with

the CHARGE Foundation are involved in this test. They were working to find

a gene as well. Aubrie tested negative for the CHD7 mutation, but we are

sure she has CHARGE. My guess is that there is more than one gene involved.

Having the definite dx from the testing can help to confirm if doctors are

hesitant to give a dx. But getting a negative from the testing does not

mean a definite no. Either there are more genes that can be involved or the

testing isn't sophisticated enough to pick up some mutations. Does that

make sense?

Aubrie also had failure to thrive as an infant. She was tube fed and did

have heart issues. She also had severe GE reflux. So we could blame her

lack of growth on those factors. But then the reflux resolved, the heart

issues resolved, and still she is very small for her age. She looks more

like a kindergartener than a 2nd grader. She is just under 50 lbs and just

shy of 50 " tall. Many kids with CHARGE are small in stature and have slow

growth. We don't know all of the reasons why. Some kids test deficient for

growth hormone and respond well the therapy. Others test fine as far as

their GH levels but still don't grow well.

The big message of the CHARGE Foundation conference 3 years ago was that

every child should be followed by an endocrinologist from infancy on -- for

growth issues and to monitor and address puberty issues in a proactive way.

We saw our endo first last year and are continuing to monitor Aubrie's

growth. While she is small, she is following an adequate growth curve.

She's actually grown more in the past year than in any past year. So we

haven't considered testing for GH deficiency yet.

It sounds to me like you are on the right track in getting that 3rd opinion.

You sound very well-informed. Do you have the latest info on growth issues?

I'm not sure what's out there -- but the CHARGE Foundation could direct you,

I would think.

It's so encouraging that Jake is reaching his developmental milestones on

time! I look forward to getting to know you both more. The list here is

wonderful in answering questions and offering support. I couldn't have made

the difficult decisions we've faced without the knowledge and support here!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

[Guest guest]

Nona and other new moms-

Just want to reiterate that the gene test for CHARGE does not rule out that

a child has it or not. It can confirm a positive dx, but it cannot rule

out. If a child tests negative for the CHD7 mutation, they still may have

CHARGE, but the dx will have to be made the old fashioned way -- by clinical

information. If a geneticist is telling you that a negative result means

the child doesn't have CHARGE, they are wrong.

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

Re: New to group- my son is being tested for CHARGE

hi, nice to meet you!!! im really a newcomer too. my little chrystine has

colobomas, heart defect asd and vsd, fell off the growth charts after birth-

she

is so little and very little appetite (g tube for feedings) also severe

gsrd, she has kidney disease-only 16% function in her right kidney, and

none in

her left, grade 4 vesicoureteral reflux in both... she has hearing loss in

her

left ear, and the outer appearance of charge... her left eye has limited

vision... left leg has little strength. she also has the hockey stick

thumbs,

they are actually soooo cute. she is 6months old. so, anyhow-docs are

putting

it all together, the left side of her body has so many limitations.

the genetic testing may rule your son out when he really does have charge?

our geneticist told us that recently. she said she doesnt like that dna test

because so many of these children will be ruled out when they really do have

this syndrome.

[Guest guest]

Nona and other new moms-

Just want to reiterate that the gene test for CHARGE does not rule out that

a child has it or not. It can confirm a positive dx, but it cannot rule

out. If a child tests negative for the CHD7 mutation, they still may have

CHARGE, but the dx will have to be made the old fashioned way -- by clinical

information. If a geneticist is telling you that a negative result means

the child doesn't have CHARGE, they are wrong.

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

Re: New to group- my son is being tested for CHARGE

hi, nice to meet you!!! im really a newcomer too. my little chrystine has

colobomas, heart defect asd and vsd, fell off the growth charts after birth-

she

is so little and very little appetite (g tube for feedings) also severe

gsrd, she has kidney disease-only 16% function in her right kidney, and

none in

her left, grade 4 vesicoureteral reflux in both... she has hearing loss in

her

left ear, and the outer appearance of charge... her left eye has limited

vision... left leg has little strength. she also has the hockey stick

thumbs,

they are actually soooo cute. she is 6months old. so, anyhow-docs are

putting

it all together, the left side of her body has so many limitations.

the genetic testing may rule your son out when he really does have charge?

our geneticist told us that recently. she said she doesnt like that dna test

because so many of these children will be ruled out when they really do have

this syndrome.

[Guest guest]

Nona and other new moms-

Just want to reiterate that the gene test for CHARGE does not rule out that

a child has it or not. It can confirm a positive dx, but it cannot rule

out. If a child tests negative for the CHD7 mutation, they still may have

CHARGE, but the dx will have to be made the old fashioned way -- by clinical

information. If a geneticist is telling you that a negative result means

the child doesn't have CHARGE, they are wrong.

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

Re: New to group- my son is being tested for CHARGE

hi, nice to meet you!!! im really a newcomer too. my little chrystine has

colobomas, heart defect asd and vsd, fell off the growth charts after birth-

she

is so little and very little appetite (g tube for feedings) also severe

gsrd, she has kidney disease-only 16% function in her right kidney, and

none in

her left, grade 4 vesicoureteral reflux in both... she has hearing loss in

her

left ear, and the outer appearance of charge... her left eye has limited

vision... left leg has little strength. she also has the hockey stick

thumbs,

they are actually soooo cute. she is 6months old. so, anyhow-docs are

putting

it all together, the left side of her body has so many limitations.

the genetic testing may rule your son out when he really does have charge?

our geneticist told us that recently. she said she doesnt like that dna test

because so many of these children will be ruled out when they really do have

this syndrome.

[Guest guest]

Hi Nona, I am a 27 year old with CHARGE syndrom. I have hearing, vision and

other health issues. I am not short wich is funny considering shortness runs

in my family, lol.

anyways. yah the list gets busy at times. It comes and goes lol. Do ask lots

of questions. Sometimes I and sometims others get off topic but we do try to

put off topic or say whats in the topic so you kinda get to know whats

happening before you open the email.

Chantelle *CHARGE

[Guest guest]

Hi Nona,

Welcome. My son Evan is 9 1/2 months old and was diagnosed with CHARGE

shortly after birth the " old-fashioned " way--with the clinical features. I

think we may have gotten the diagnosis faster because there were two other

babies born at the same hospital right around the same time with CHARGE syndrome

too.

The diagnostic criteria have changed since CHARGE was originally

described--now it is based on having either 3 major or a combination of major

and minor features (the CHARGE foundation website has the updated information).

It sound like you have two major features with the microphthamia and the ears.

We are in the process of getting tested for the CHARGE gene (we're doing ours

through a research study at Baylor College of Medicine, so it is taking longer

to get results). But as others have already pointed out, not having the CHARGE

gene doesn't really tell you much--it can still be CHARGE.

If you are interested in seeing more pictures, Evan has a webpage

(www.babysites.com/sites/skeybunny) There are links to several other CHARGErs

websites as well.

(mom to Evan, 9.5 months)

nonabar wrote:

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-.

[Guest guest]

Hi Nona,

Welcome. My son Evan is 9 1/2 months old and was diagnosed with CHARGE

shortly after birth the " old-fashioned " way--with the clinical features. I

think we may have gotten the diagnosis faster because there were two other

babies born at the same hospital right around the same time with CHARGE syndrome

too.

The diagnostic criteria have changed since CHARGE was originally

described--now it is based on having either 3 major or a combination of major

and minor features (the CHARGE foundation website has the updated information).

It sound like you have two major features with the microphthamia and the ears.

We are in the process of getting tested for the CHARGE gene (we're doing ours

through a research study at Baylor College of Medicine, so it is taking longer

to get results). But as others have already pointed out, not having the CHARGE

gene doesn't really tell you much--it can still be CHARGE.

If you are interested in seeing more pictures, Evan has a webpage

(www.babysites.com/sites/skeybunny) There are links to several other CHARGErs

websites as well.

(mom to Evan, 9.5 months)

nonabar wrote:

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-.

[Guest guest]

Hi Nona,

Welcome. My son Evan is 9 1/2 months old and was diagnosed with CHARGE

shortly after birth the " old-fashioned " way--with the clinical features. I

think we may have gotten the diagnosis faster because there were two other

babies born at the same hospital right around the same time with CHARGE syndrome

too.

The diagnostic criteria have changed since CHARGE was originally

described--now it is based on having either 3 major or a combination of major

and minor features (the CHARGE foundation website has the updated information).

It sound like you have two major features with the microphthamia and the ears.

We are in the process of getting tested for the CHARGE gene (we're doing ours

through a research study at Baylor College of Medicine, so it is taking longer

to get results). But as others have already pointed out, not having the CHARGE

gene doesn't really tell you much--it can still be CHARGE.

If you are interested in seeing more pictures, Evan has a webpage

(www.babysites.com/sites/skeybunny) There are links to several other CHARGErs

websites as well.

(mom to Evan, 9.5 months)

nonabar wrote:

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-.

[Guest guest]

Hi Nona

We have a charge child Amelie aged 16 months, she tested positive to

the CHD7 mutation, she has bilateral optic colobomas, profoundly deaf,

ASD awaiting, PDA ligated, Hypertrophic cardiomyopathy, gastrostomy

jejunum 20 hours pump fed, nissen fundoplication, chronic lung disease

from all the aspirations, severe hypotonia, developmentally delayed by

lots I would guess. amelie is just about getting to a desent weight,

but as she is pump fed a certain amount of calories, this does tend to

keep the weight pretty much normal, apart from times on TPN when

poorly.

Amelie has been hospitalised 13 of her 16 months give or take the odd

week, her best time was home for 3 solid months last summer just after

her nissen surgery, but once this failed the pneumonias have been

quite fierce and she has had a very rough winter, role on the summer!!

lots of great families with tons of expertise here, you will always be

among friends, also some older charge people with a wealth of

information to advise us newer mums and dads.

good luck with the tests,

love Lesley mum to le 12 Olivia 10 Fleur 2 and Amelie charge 16

months (UK)

Amelie is gorgeous and a cheeky monkey, just discovered how to mess

with her canulas hearing aids, and just about anything she can grab,

> 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-.

>

[Guest guest]

Hi Nona

We have a charge child Amelie aged 16 months, she tested positive to

the CHD7 mutation, she has bilateral optic colobomas, profoundly deaf,

ASD awaiting, PDA ligated, Hypertrophic cardiomyopathy, gastrostomy

jejunum 20 hours pump fed, nissen fundoplication, chronic lung disease

from all the aspirations, severe hypotonia, developmentally delayed by

lots I would guess. amelie is just about getting to a desent weight,

but as she is pump fed a certain amount of calories, this does tend to

keep the weight pretty much normal, apart from times on TPN when

poorly.

Amelie has been hospitalised 13 of her 16 months give or take the odd

week, her best time was home for 3 solid months last summer just after

her nissen surgery, but once this failed the pneumonias have been

quite fierce and she has had a very rough winter, role on the summer!!

lots of great families with tons of expertise here, you will always be

among friends, also some older charge people with a wealth of

information to advise us newer mums and dads.

good luck with the tests,

love Lesley mum to le 12 Olivia 10 Fleur 2 and Amelie charge 16

months (UK)

Amelie is gorgeous and a cheeky monkey, just discovered how to mess

with her canulas hearing aids, and just about anything she can grab,

> 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-.

>

[Guest guest]

Hi Nona

We have a charge child Amelie aged 16 months, she tested positive to

the CHD7 mutation, she has bilateral optic colobomas, profoundly deaf,

ASD awaiting, PDA ligated, Hypertrophic cardiomyopathy, gastrostomy

jejunum 20 hours pump fed, nissen fundoplication, chronic lung disease

from all the aspirations, severe hypotonia, developmentally delayed by

lots I would guess. amelie is just about getting to a desent weight,

but as she is pump fed a certain amount of calories, this does tend to

keep the weight pretty much normal, apart from times on TPN when

poorly.

Amelie has been hospitalised 13 of her 16 months give or take the odd

week, her best time was home for 3 solid months last summer just after

her nissen surgery, but once this failed the pneumonias have been

quite fierce and she has had a very rough winter, role on the summer!!

lots of great families with tons of expertise here, you will always be

among friends, also some older charge people with a wealth of

information to advise us newer mums and dads.

good luck with the tests,

love Lesley mum to le 12 Olivia 10 Fleur 2 and Amelie charge 16

months (UK)

Amelie is gorgeous and a cheeky monkey, just discovered how to mess

with her canulas hearing aids, and just about anything she can grab,

> 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-.

>

[Guest guest]

Hey Nona,

My name is Chip Dixon, 26 1/2 yrs old mild CHARGEr (my b'day is gonna be

next month, June 16). I got Growth Hormone Defiency, slow weight gain, lack of

puberty (now it's popping up, since I had been taking testerone shots), hard of

hearing (my left ear is okay, but my right ear is worst. But, I still can't hear

low noises, other noises in a loud background), nearsighted (wear glasses, my

left eye is actually weaker than my right eye), and problems with seeing in

nighttime/dark ya know. I also got balancing problem, low muscle tone in parts

of my body (I can only lift up to 20-30 lbs), I got a bit of Kallmaan Syndrome

too! I got like 2 or 3 conditions all together, but I think they're all related

to CHARGE Syndrome. I'm sensetive to bright light and loud noises (with my

hearing aids on) too!

I'm from Los Angeles, Ca. and I did had some surgeries and medications back

then. I used to have surgery to move 1 testicle to it's proper place, I used to

have a G Tube down to my throat, but I learned to swallow....I still got

swallowing problem, sigh! I had surgery on my nose, since I can't smell

anything, right? I'm 5.5 ft tall, and currently weighing around 82-83 lbs

now....thanks to the testerone shots, working out at the gym, drinking those

weight gain milkshake, yum-yum! I used to take growth hormone shots, then I

stopped growing ya know. I'm also in the Charge Album with , and my gf who

also got CHARGE, Heidi! I'm in there twice. One pic with me and Heidi, another

picture of me, Heidi, , , and other friends. Yuka here already sent

you the link to it. Look under 'Chip' and '', alright? Thanks, talk to you

soon!

Ol' Chipper

nonabar wrote:

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-.

[Guest guest]

Hey Nona,

My name is Chip Dixon, 26 1/2 yrs old mild CHARGEr (my b'day is gonna be

next month, June 16). I got Growth Hormone Defiency, slow weight gain, lack of

puberty (now it's popping up, since I had been taking testerone shots), hard of

hearing (my left ear is okay, but my right ear is worst. But, I still can't hear

low noises, other noises in a loud background), nearsighted (wear glasses, my

left eye is actually weaker than my right eye), and problems with seeing in

nighttime/dark ya know. I also got balancing problem, low muscle tone in parts

of my body (I can only lift up to 20-30 lbs), I got a bit of Kallmaan Syndrome

too! I got like 2 or 3 conditions all together, but I think they're all related

to CHARGE Syndrome. I'm sensetive to bright light and loud noises (with my

hearing aids on) too!

I'm from Los Angeles, Ca. and I did had some surgeries and medications back

then. I used to have surgery to move 1 testicle to it's proper place, I used to

have a G Tube down to my throat, but I learned to swallow....I still got

swallowing problem, sigh! I had surgery on my nose, since I can't smell

anything, right? I'm 5.5 ft tall, and currently weighing around 82-83 lbs

now....thanks to the testerone shots, working out at the gym, drinking those

weight gain milkshake, yum-yum! I used to take growth hormone shots, then I

stopped growing ya know. I'm also in the Charge Album with , and my gf who

also got CHARGE, Heidi! I'm in there twice. One pic with me and Heidi, another

picture of me, Heidi, , , and other friends. Yuka here already sent

you the link to it. Look under 'Chip' and '', alright? Thanks, talk to you

soon!

Ol' Chipper

nonabar wrote:

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-.

[Guest guest]

Hey Nona,

My name is Chip Dixon, 26 1/2 yrs old mild CHARGEr (my b'day is gonna be

next month, June 16). I got Growth Hormone Defiency, slow weight gain, lack of

puberty (now it's popping up, since I had been taking testerone shots), hard of

hearing (my left ear is okay, but my right ear is worst. But, I still can't hear

low noises, other noises in a loud background), nearsighted (wear glasses, my

left eye is actually weaker than my right eye), and problems with seeing in

nighttime/dark ya know. I also got balancing problem, low muscle tone in parts

of my body (I can only lift up to 20-30 lbs), I got a bit of Kallmaan Syndrome

too! I got like 2 or 3 conditions all together, but I think they're all related

to CHARGE Syndrome. I'm sensetive to bright light and loud noises (with my

hearing aids on) too!

I'm from Los Angeles, Ca. and I did had some surgeries and medications back

then. I used to have surgery to move 1 testicle to it's proper place, I used to

have a G Tube down to my throat, but I learned to swallow....I still got

swallowing problem, sigh! I had surgery on my nose, since I can't smell

anything, right? I'm 5.5 ft tall, and currently weighing around 82-83 lbs

now....thanks to the testerone shots, working out at the gym, drinking those

weight gain milkshake, yum-yum! I used to take growth hormone shots, then I

stopped growing ya know. I'm also in the Charge Album with , and my gf who

also got CHARGE, Heidi! I'm in there twice. One pic with me and Heidi, another

picture of me, Heidi, , , and other friends. Yuka here already sent

you the link to it. Look under 'Chip' and '', alright? Thanks, talk to you

soon!

Ol' Chipper

nonabar wrote:

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-.

[Guest guest]

Hey Nona,

It's me again, sorry to bug you but, I forgot to tell you a few more things

about my charastic with CHARGE. I also got a mild form of torticollis (but, I

can control my head to stay up, so it won't be tilting on the side too much), my

upper body is actually weaker than my lower body (in another word, I got more

muscles on my legs than my upper body, lol), a bit of facial palsy, and 1 of my

ears is smaller than my other ear, lol!

Oh Yeah, I'm also in the charge syndrome foundation pictures too! Just look

under 2005 conference and under the charastic of charge, look under facial palsy

and facial charastic, okay-dokey? That's all for now, email me back if you got

any quesitons (or any of my charge friends here too, cool man)!

Ol' Chipper >

nonabar wrote:

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-.

[Guest guest]

Hey Nona,

It's me again, sorry to bug you but, I forgot to tell you a few more things

about my charastic with CHARGE. I also got a mild form of torticollis (but, I

can control my head to stay up, so it won't be tilting on the side too much), my

upper body is actually weaker than my lower body (in another word, I got more

muscles on my legs than my upper body, lol), a bit of facial palsy, and 1 of my

ears is smaller than my other ear, lol!

Oh Yeah, I'm also in the charge syndrome foundation pictures too! Just look

under 2005 conference and under the charastic of charge, look under facial palsy

and facial charastic, okay-dokey? That's all for now, email me back if you got

any quesitons (or any of my charge friends here too, cool man)!

Ol' Chipper >

nonabar wrote:

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-.

[Guest guest]

Hey Nona,

It's me again, sorry to bug you but, I forgot to tell you a few more things

about my charastic with CHARGE. I also got a mild form of torticollis (but, I

can control my head to stay up, so it won't be tilting on the side too much), my

upper body is actually weaker than my lower body (in another word, I got more

muscles on my legs than my upper body, lol), a bit of facial palsy, and 1 of my

ears is smaller than my other ear, lol!

Oh Yeah, I'm also in the charge syndrome foundation pictures too! Just look

under 2005 conference and under the charastic of charge, look under facial palsy

and facial charastic, okay-dokey? That's all for now, email me back if you got

any quesitons (or any of my charge friends here too, cool man)!

Ol' Chipper >

nonabar wrote:

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

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8th International

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

www.chargesyndrome.org or by calling 1-.