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,

It is wonderful that you had such a good appointment today. I can

just imagine how great it is to have a doctor you can depend on that

is taking such good care to make sure that everything is done for

.

Dawna

>

> 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!

>

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Hi ,

Great news about and great job in caring for her. It is

not easy to " Boldly go where no one has gone before " . Keep it

up.

Last, I can't resist this, when's the wedding? Are we all invited?

Great news !!!

Ken M

:)

>

> 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!

>

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I think we could start a fan club for our geneticists...we love ours

too! Isn't is sooo nice to find a doctor who totally sees the whole

pictures and helps line everyone else to do t heir part? Boy am

Iglad EMerence is only 2.5....I have a while to go before her

preteen antics start I hope!

>

> 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!

>

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Hey Jenn,

That is great news! I'm so glad that she aggree with your decission.

We do what we think is best for our kids even when most docs don't

agree with us, but it sure is nice when they do support our choices.

By the way, I just wrote my gene a huge thank you letter last week.

He has always been the brains behind Coby's medical plan. I

completeley understand what that trust feels like. I don't know what

I would have done these past 3 years withought him.

Talk to ya soon,

le

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- that is the best news we've heard on - I'm so

glad you shared it with us. I'm equally happy that you have someone

you feel so comfortable with - and as intelligent as you are,

hearing a physician make common sense and intelligent decisions as

well is incredibly comforting as well. I'm sure you feel a little

more relaxed about things with - I apologize for not

realizing everything that was going on. I knew you had a lot on

your mind. Hugs to you . Thanks again for sharing and I

look forward to more updates on as she's being monitored.

Thinking of you lot's.

- H

>

> 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!

>

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Share on other sites

,

Great to hear about 's appointment. We too loved our geneticist, Dr.

Judy Wilner. She is at Mt. Sinai and was a teacher of Dr.H's. We have not

seen her though since Jonah was an infant.

, Jonah's mom

's genetics checkup

> 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!

>

>

>

>

>

>

>

>

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