Re: My daughter Zoey (this is kind of long..sorry)

March 4, 2003

April,

Hi, and welcome to the CHARGE list. Wow, you have a lot on your plate right

now! First of all, congratulations on your beautiful new daughter, I love her

name!

Regarding the CHARGE diagnosis - I think you need to get to a geneticist who

is familiar with CHARGE. The coloboma is definitely a " red light " for CHARGE

but a geneticist can best answer your questions. What are Zoey's outer ears

like? Has the ENT checked for any choanal atresia or narrowing? It's hard to

say for sure, especially just from reading email - it's definitely best that a

professional make the call.

I would imagine Zoey's heart problems are not helping with her lack of

growth, I'm sure she will start to gain after surgery, although kids with CHARGE

can have a hard time with growth. I would definitely ask the cardiologist that

question, and if she is NOT growing after her heart surgery, I would check with

my pediatrician about getting referred to an endocrinologist. I know how

frustrating people's questions are when they mistake your child for younger,

etc. Most of the time people don't mean anything by it, but it can be

frustrating, especially when you're having " one of those days " .

I don't think I've ever advised someone to see so many doctors in one email!

I hope you aren't too overwhelmed...that's what I would do with regards to the

questions you asked about. This must all be a little mind boggling at the

moment (I'm still boggled at times but manage to keep my head on straight most

of the time now) but things will eventually calm down for you & your family

April - even though it may not seem like it right now.

Please keep us posted and stick with the hearing aides, the earlier and more

consistently you keep them on, the better!!!

~ Weir

Mom to Kennedy, 5yr old CHARGEr, 13, 11, and wife to Graeme

Saint , New Brunswick, Canada

Visit the Weir Family Website - http://personal.nbnet.nb.ca/gweir

CHARGE Syndrome Canada - http://www.chargesyndrome.ca

My daughter Zoey (this is kind of long..sorry)

Hello All,

I tried to send a message the other day, but I am new to the list and

must have done it WRONG So it never got to you all. My name is

April and I am a single mother of 2 awesome kids. My son is 6 and my

daughter is 2mos old. Zoey was born at 37 weeks and weighed 6lbs 9oz

and was 21 in long. She was apparently healthy and we went home on

christmas day (what a great gift!!) As we were leaving, the

hospital said wait they had forgotten to do the newborn hearing

screening test. We came back in and the test was done. Zoey failed

the test. They told me not to worry, and that because Zoey was born

via c-section...that it was just fluid in her ears that hadn't

cleared out. WRONG! After all kinds of testing, Zoey has been found

to be profoundly deaf in both ears.

Just on a hunch, her ENT referred her to an opthalmologist for

evaluation. On accident we were referred to a pediatric retina

specialist. (Good thing too) Zoey was diagnosed with coloboma of the

retina in the right eye. The left appears normal. When Zoey went in

for her 2 month check the other day, the doctor discovered a heart

murmur that was very loud and now Zoey has an enlarged liver too. (I

have an appt today with the pediatric cardiologist, and tomorrow with

the genetics doctor for a full eval.) To top it all off, Zoey only

weighs 7lbs 12oz now. Her head is concidered abnormally small and she

is not on the chart at all

This sounds like CHARGE syndrome to me...but I thought I'd ask you

parents out there what you thought. This is all so new to me, that it

is nice to be able to talk with other that have children in her same

situation. Zoey got her hearing aides a few weeks ago, but she hates

wearing them. She is really sensitive and they annoy her We wear

them anyways!!

I have another question..Once her heart problem is fixed (if it needs

to be) Does that mean that she will grow? I get so frustrated with

people asking me how many days old she is. I feel like saying 3

days old..when in actuality she is more like 70 days old.

Thanks for listening to me. Sincerely, April (Mom of Jordan and Zoey)

March 4, 2003

My goodness. Good for you for searching out possibilities for your

daughter. It is hard for us on the list to say yes or no is it CHARGE, but

there is info to share with your doctors.

Many doctors still rely on outdated diagnostic criteria when considering

CHARGE. The CHARGE manual from our foundation has updated information on

diagnosing CHARGE, plus lots of other information. If that is not an option

now, I would recommend the doctors read the article by Dr. Blake et al that

covers the new diagnostic criteria. n do you have the reference?

Second you sound like a mom who is looking for what you can do and is

willing to take action right away. The agency that has provided me with the

most support was my state's Deafblind Project. Every state has one. Many

of us do not get connected with this agency right away because of the term

deafblind. Deafblind does not mean totally deaf and totally blind, but

refers instead to the impact of combined vision and hearing loss. This is a

unique field that has valuable information for helping our children with

combines sensory losses learn. If you are not in the states, I would still

look into deafblind resources.

Good luck and enjoy your precious baby.

Kim

Mom to Dylan 6 CHARGE, Kayla 12, Tyler 14

On 3/4/03 11:36 AM, " Lirpaloof "

wrote:

> Hello All,

> I tried to send a message the other day, but I am new to the list and

> must have done it WRONG So it never got to you all. My name is

> April and I am a single mother of 2 awesome kids. My son is 6 and my

> daughter is 2mos old. Zoey was born at 37 weeks and weighed 6lbs 9oz

> and was 21 in long. She was apparently healthy and we went home on

> christmas day (what a great gift!!) As we were leaving, the

> hospital said wait they had forgotten to do the newborn hearing

> screening test. We came back in and the test was done. Zoey failed

> the test. They told me not to worry, and that because Zoey was born

> via c-section...that it was just fluid in her ears that hadn't

> cleared out. WRONG! After all kinds of testing, Zoey has been found

> to be profoundly deaf in both ears.

> Just on a hunch, her ENT referred her to an opthalmologist for

> evaluation. On accident we were referred to a pediatric retina

> specialist. (Good thing too) Zoey was diagnosed with coloboma of the

> retina in the right eye. The left appears normal. When Zoey went in

> for her 2 month check the other day, the doctor discovered a heart

> murmur that was very loud and now Zoey has an enlarged liver too. (I

> have an appt today with the pediatric cardiologist, and tomorrow with

> the genetics doctor for a full eval.) To top it all off, Zoey only

> weighs 7lbs 12oz now. Her head is concidered abnormally small and she

> is not on the chart at all

> This sounds like CHARGE syndrome to me...but I thought I'd ask you

> parents out there what you thought. This is all so new to me, that it

> is nice to be able to talk with other that have children in her same

> situation. Zoey got her hearing aides a few weeks ago, but she hates

> wearing them. She is really sensitive and they annoy her We wear

> them anyways!!

> I have another question..Once her heart problem is fixed (if it needs

> to be) Does that mean that she will grow? I get so frustrated with

> people asking me how many days old she is. I feel like saying 3

> days old..when in actuality she is more like 70 days old.

> Thanks for listening to me. Sincerely, April (Mom of Jordan and Zoey)

>

> Membership of this email support groups 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 CHARGE Syndrome Foundation web page

> at http://www.chargesyndrome.org

> 6th International CHARGE Syndrome Conference, Cleveland, Ohio,

> July 25-27, 2003. Information will be available at our website

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

>

March 4, 2003

Hi April,

We have a 7 month old little Charge guy. He was born at 33 weeks and has had

a fairly tough road thus far. He is eating about half orally and half

through the g-tube and we monitor his calories very close. Without the

G-tube, he would not eat enough to gain weight. He has gained at the same

speed as the growth chart since he was 6 pounds and out of the hospital. (he

was born at 4 lbs.) He is proportionate, but looks like a 3 or 4 month old

right now at 12 lbs. We usually just say he's 3 months old.

The endocrinologist at LA Children's Hospital has tested his growth hormones

and they have been normal. There is MUCH information about this subject on

this server. As far as I've conclude from all the letters and articles and

doctors... basically it's going to be very hard to tell how big a Charge kid

will be. They still don't know if it's a genetic trait or if the physical

disabilities inhibit the growth and they are the only factor. We are doing

what we can to keep him growing. We welcome every wrinkle and dimple that he

gets now.

We are not going to give in to the idea that it's genetic yet and we will

keep pushin the food in. We are off the breast milk and mix our formula just

a little bit strong to give him more calories.

I hope this helps a little. There are very few definitive answers out there,

unfortunately.

Bo , son and wife

Santa Barbara