's genetics checkup

[Guest guest]

Hi all -

I just wanted to say how much we love our medical geneticist (Dr.

Falk, Cedar Sinai, who spoke at the convention once a couple years

past). She sees once a year, and basically views it as her

responsibility to oversee as a " whole " . They spend several

hours with us, and then write up an entire " plan of action " for the

coming year. This plan involves other specialists of course, she

doesn't " treat " , just " monitors " her. Kind of like a Dr.

Harbison but at a higher level.

Here is what she said for today ( is turning 10).

1) Do not panic about the scoliosis. Wait another 6 months and

see. Secondly, do NOT stop the growth hormone. 's " rapid "

growth is long past (several years back on GH) and she is only

growing at 2-2.5 " a year now, so continuing the GH wouldn't cause

more damage (for right now).

2) ABSOLUTELY 100% supports Dr. Harbison's decision to put

on Arimidex. That made us feel so much better. 's bone age

had gone past her chronological age as of last January. Dr Falk

said she would do the same thing with her own daughter, based on

where we are at. She agrees that there is no guarantee that it will

work at stopping the bone age advancement, but the risks are so tiny

compared to the possible benefits.

3) Wants to have a dexatron scan for bone mineral density.

I remember Bobbi McGrath getting one for -- Dr. Falk explained

that few machines are calibrated for pediatrics, so you have to ask

that specific question. She wants to measure L's bmd and the

monitor it each year or two. As you know from the convention &

discussions on the listserve, our kids have signif lower bmd than

normal kids, and aromitase inhibitors can lower bmd as well (but the

chance is very slim). She says that L's muscle mass indicates to

her that L probably has normal bmdensity but she would like to know

for sure.

4) And she wants to do an abdominal ultrasound. Nothing alarming

here. And it isn't an xray and so not invasive. She just wants to

ensure that everything is OK, no masses, etc.

5) And she wants the school to allow to talk to the

counselor, if she wants. is definitely at the stage where

she is FED UP with doctors, doesn't want to talk to them or talk

about RSS, etc.

Anyway. Nothing major. But she was saying that any RSS child who

lives near a good children's hospital with a pediatric " clinical

medical geneticist " should be able to get the same care that

is getting from her.

She is the one that suggested speech at age 2.... she is the one

that suggested GH when the local dr. said forget it ... she is the

one that has helped us with hypoglcyemia, etc.

Can you tell I love her!