finding a dr

[Guest guest]

Tom

You will probably be hard pressed to find a ped who's familiar with CHARGE

Syndrome so what you need to do is find someone who's willing to refer you

to specialists whenever needed and not someone who's intimidated by HMOs or

someone who's too egotistical to ask for help of a specialist.

A geneticist is the one dr who's going to know the most about CHARGE and

know which tests need done and which specialists you need to see. He or she

will be like your CHARGE pcp in determining what tests need to be done and

making referrals to specialists who may decide to order more tests. The

geneticist will decide how often he/she needs to see you in the beginning to

do rule outs and so forth and then you'll go back maybe 1x a year.

Another important doc (I know there all important) is a developmental

pediatrician, if you don't have one, a child psychologist would work. This

dr will be like the PCP for your child's developmental needs determing what

therapies are needed such as OT, PT, etc. They can also make referrals

(like to neurology). One of my regrets is that we only saw our psychologist

2x a year (every 6 mos). In the first 2 yrs of life I think someone this

important to my child's development should've been seen every 3 mos. The

appts were always rushed because in 6 mos there was so much to cover and we

always found out after the fact that our child was in dire need of something

(like OT or PT). Every week counts at this age, and we shouldn't have let

the time slip by.

So having a pediatrician who's willing to send you out to all these

specialists and help you tie all the information together and make sense of

it is so important. Having someone who will call them all on the phone and

discuss your child when you have complex questions make a real difference in

your ability to understand and help your child.

I know, I go on too long to make a point. But this was a valid and such an

important question.

Jeanne mom to Caitlyn age 4 cHaRgEr