Re: Re: RSS PREGNANCY POLL- FEEDBACK! & genetics appt - H

[Guest guest]

I believe she has a mild form because I've had four doctors diagnose her RSS and

Dr. H said just SGA. Dr. H said she doesn't have any assymetry, but actually

she does. Her assymetry is only like .5cm off on one leg, but her body is

actually rotated to the left slightly. Her spine is also a little uneven due to

the rotation from her hips. She also has the persistently low weight for

height, mild high arched palate, sacrum dimple, low muscle tone, she does not

have the forhead or ears and I believe that was the other thing that Dr. H was

looking at when she said she was SGA not RSS. That's also why I say she is mild

because she doesn't have the actual " look " . I had a physical examine her and

she measured from head to toe and really watched her. She said there is

definitely assymetry and believes she does have RSS, but said it would be on the

milder side. Can somebody correct me if I'm wrong in my assumptions.

Thanks,

Tammy

advocate22003 wrote:

Tammy - may I interject here? Why do you consider your child to

have a more mild form of RSS? Just curious.

- H

> Hi,

>

> This morning Emerence saw her geneticist. I had provided the data

to

> her that the 24 moms gave me regarding their RSS/SGA child

> pregnancy. The other Dr. I sent the data to and I keep missing

each

> other. HOWEVER, she said what we have is a very interesting

> PUBLISHABLE result with some further analysis. She said at this

> point she feels too old to pick up this project but hopes Dr.

> Gillieson will.

>

> Also on the way out the door I did a huge double take when I

passed a

> mom going in with three kids. Two were obviously twins but one

was

> much smaller so I went back and talked with her…the smaller twin

has

> a gtube, fundo etc…hopefully she will join the group, she hadn't

> heard of MAGIC.

>

> As for Emerence, her geneticist said there is a new test out.

Next

> time we go into Children's for a blood draw she is going to have a

> SIGNATURE CHIP MICROARRAY – ALL LOCI TESTED done. Apparently it

> looks INSIDE the chromosomes for markers. Anyone done this/heard

of

> this?

>

> , mom to , 5 and Emerence 2.5 22 lb 32 "

>

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