An old/new mom

December 13, 2006

Hi everyone! My name is Jillana Holt-Reuter and I live in Denver, CO.

This past Monday, my 18 year old daughter (Caitlin) was diagnosed with

CHARGE. This may seem a bit odd to be diagnosed so late but at the

time she was first looked at for CHARGE, the criteria were different

so I didn't ever think we needed to look at it again. Caitlin has

Colobomas to her optic nerve, a PDA, Agenesis corpus callosum,

Sensorineural hearing loss, seizures, 2 Nissen fundoplications and a

host of little things that are involved with CHARGE. About 8 years

ago, we went to her genticist and she told us there really wasn't

anything new for testing so I became content. I knew things were the

way they were going to be and there wasn't much I could do to stay

medically ahead of the game. Then July of 2006 changed everything. I

went to a conference (NTAC) I love to attend year after year to get

together with parents and professionals to hear all the news about

Deafblindness. This year was eceptional as I had a great roommate that

I will ever be thankful to and love for all of my days. Ellen

Steinbrick was my roommate took a listen to my kiddo and saw a picture

of her and asked me if she had CHARGE. I told her the story and she

told me to go back to the geneticist... There were new criteria and a

blood test now. I really had an excitement along with sadness when I

hear this. The hope we might have a name was sparked again and I had

really been ok without a name to what Caitlin had. The day after I got

home, I made the appointment. It took months....... long waiting time

if you ask me. After I made the appointment, I looked at the CHARGE

site and well, literally broke down. This is my daugther... this is

the answer.... I was a true mix of emotion over this. I felt being a

medical professional myself, I should have done more. I have the

knowledge and skills to save someone's life but I didn't see this...

My emotions on this are up and down... Ellen has been great is helping

me through this and I will ever be thankful to her. The doctor told me

how lucky we have been and I see that. I want other parents to know

there is more than the medical stuff to deal with... There is the

emotional stuff and the educational stuff. In all of that, dreams get

lost sometimes... Your own personal dreams, the dreams you had/have

for your child. I want all of the parents of these young ones that

dreams are still there for the taking. They are going to be different,

but still filled with excitement, wonder and love.

Thanks for giving me space to share...

December 14, 2006

I'm glad you finally found answers i found ot my little guy had CHARGE when he

was 8 months old he has columboma, heart surgery{9/21/05 ~ ap window,

coartation,pda}his nasal passages are both very narrow{i go through alot of

tissues repair to come soon},very small for his age{15 months 19 pounds} small

genitals{recieving shots to help} ear problems{90% hearing loss left side 50%

loss on the right side} he had a feeding tube but it was removed in april i have

my ups and downs but im getting through it welcome to the list

mommy of {15 month old CHARGEr}