It's official - has CHARGE!!!

[Guest guest]

Some of you will know of my lengthy battle to get our geneticist to accept

that has CHARGE!

Adament he didn't have Charge she totally dismissed it and our view. But

after much pressure she finally agreed to do the gene testing, he tested

positive for the mutation a few months ago, and we were waiting for the

results to come back from Neil and I, just incase the mutation they found

was also present in either Neil or I (making it a natural variation and not

Charge).

So, I had chased up the geneticist today telling her we wanted to confirm

Charge dx ASAP so we could get on with thinking about having another child

(!) and got the following reply....this is not edited: she is a woman of few

words!

" is - I recieved the result last week and have signed the letter today

so should be with you tomorrow. YOu were right it is CHARGE neither of you

carry the mutation. Do you want another appointment?. The recurrence risk is

not zero. I am at St s this friday. "

So there we are - it's official....what we knew via Google when was 10

days old...and it's only taken her another 2 yrs and 6 months to confirm!

But the good news is, this means a. I can post 's picture in to the

Charge Hall of Fame!! and b. I don't feel like an imposter on the listserv

any longer!!!

Thanks to Meg Hefner for all her support in helping us get this diagnosis!!!

She believed had Charge and encouraged us to keep on pushing our

doctors. I am thrilled to have a answer and somewhere we belong!

Now, if I take up the offer of an appointment on Friday should I take her a

" present " ? I was thinking of the Charge gift wrapped??!! to aid her

in future Dx's.

I have also prepared by having a T Shirt printed up for to wear to the

appointment, based on a suggestion I read here a while ago, it says

" SuperCHARGEd! " .

But joking aside I still feel angry that her mis-diagnosis / limited

knowledge of Charge and her stubborn nature (eg. she would not even read my

emails from Meg) could have cost us 2 years worth of learning and sharing

information here on the listserv and with other UK families. If I had

believed her and dismissed Charge then would not have had the learning

opportunities he has benefited from because I would have missed out on all

the tips and ideas I get from participating here. What a high cost that

would have been. Thank god I didn't listen to her and instead I listened to

the internal voice that said " No - she is wrong, I just feel it in my gut " .

Ah, life! Look out for the new handsome chap on the Charge Hall of Fame.

Lock up your daughters, he is a bit of a stunner if I say so myself!!!

is (Mum to JACOB 2, UK, who has definitely, no doubt about it, 100%

CHARGE SYNDROME!!!!)