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

[Guest guest]

Emerence's geneticist also calls her RSS b/c to have a syndrome

ususally if you present 5 or more characteristics you are " named "

with the syndrome, DR. H debated the first year t hen called her

SGA. Emerence had PT from 3 months of age until about 2y and 3

months for low muscle tone, OT for feeding issues (stuffing, not

chewing, choking), high palate, curved finger, smaller chin, large

forehead (much more prominant/bossed as a baby but not now), IUGR,

her ears are low, only one is mildly posteriorly rotated, she is

asymmetrical on her left side (buttock is smaller and foot is

smaller), she had ear tubes, sacral dimple, she has thin lips,

downturned corners, is presenting recently with hypo-g issues -

however all mild. People look at her and say no way to RSS but she

does present with all of the above just not extreme.

, mom to 5 and Emerence 31mo 22 lb 32 "

> > 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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> >

> >

> >

> >