Re: RSS PREGNANCY POLL- FEEDBACK! & genetics appt

[Guest guest]

,

That is so interesting. I knew something had to come out of that poll. Let me

know if there is anything else I can help with on it. Also, since and

Emerence are such a mild case of RSS or at least I believe, it would be

interesting to see what comes of that new test. I am going to ask my genetics

doctor about it. In fact, I may go ahead and make another appointment because

she is overdue for her followup. If I find out anything before you do, I'll let

you know.

Tammy

Mom to 22 months RSS/SGA, GERD, g-tube, ght fundo. and 6 1/2

wrote:

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 "

[Guest guest]

<<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?>>

Liam's geneticist told me about it but said it will not be available till

late next year....

[Guest guest]

- great news on the possible research. What is the genetic

test looking for exactly? I'm not sure if we've heard or had that

done.

- 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 "

[Guest guest]

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 "

>

>

>

>

>

>

>

[Guest guest]

The test is available now at Boston Children's Hospital but she just

wrote the lab test (I see her at a satellite office close to home)

slip up and next time she gets blood drawn for endo stuff (Dec for

Gh probably) we'll piggyback it. She is not a fanatic of

overtesting and over poking kids with needles. I guess the UPD7

test looks at about 4% of markers and this can do about 6%. She

said it may just help diagnosing RSS (or other things easier).

, mom to MIchael 5 and Emerence 2.5 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 "

[Guest guest]

--

Hi ,

I have not been on the site for quite a while due to many other

reasons. But I was intrigued when I was trying to catch up a little.

I obviously missed your pregnancy polling. However I know from the

past that we have had conversation that we go to the same

geneticist. Mollie who is now 3yrs 9 mos. is due to go back and see

her again soon. It will be interesting to see what she has to say

regarding the further testing. She had told me in the past, just to

be patient that eventually there would be more information.

As for Mollie, she continues to be fed via G-tube during the night.

Continues on growth hormone. Is Doing quite well on it. She is just

about 30 pounds now and 36 inches. You can also email me privately

as well.

Debbie

- In RSS-Support , " " <mbdonnell@h...> wrote:

> The test is available now at Boston Children's Hospital but she

just

> wrote the lab test (I see her at a satellite office close to home)

> slip up and next time she gets blood drawn for endo stuff (Dec for

> Gh probably) we'll piggyback it. She is not a fanatic of

> overtesting and over poking kids with needles. I guess the UPD7

> test looks at about 4% of markers and this can do about 6%. She

> said it may just help diagnosing RSS (or other things easier).

>

> , mom to MIchael 5 and Emerence 2.5 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 "

[Guest guest]

Hi,

Don't you just LOVE Dr. Irons. I just think she is sooo with it. We

are going to see her in a year again unless we need her before

then. She had only seen Emerence twice and then we bumped into her

during an ortho appt (we see her at Children's on the South Shore in

Weymouth) and remembered our names etc. She had done research

before Emerence's appt last week and brought up a few thoughts she

has. Where are you from again? I am waiting on the family

to let me know when/hwere the Walk for MAGIC will be this year.

Should I let you know?

> > > > 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 "

[Guest guest]

---,

Yes, I absolutely do love her. She is a " complete " physician and

person. We live in Wrentham. Surely you can let me know when you are

walking. I had always hoped that it would be something that we could

participate in one day. Whether this year or not. Please let me

know. I will try to keep up with the listserve a little better.

Debbie

In RSS-Support , " " <mbdonnell@h...> wrote:

> Hi,

>

> Don't you just LOVE Dr. Irons. I just think she is sooo with it.

We

> are going to see her in a year again unless we need her before

> then. She had only seen Emerence twice and then we bumped into

her

> during an ortho appt (we see her at Children's on the South Shore

in

> Weymouth) and remembered our names etc. She had done research

> before Emerence's appt last week and brought up a few thoughts she

> has. Where are you from again? I am waiting on the family

> to let me know when/hwere the Walk for MAGIC will be this year.

> Should I let you know?

>

>

>

>

> > > > > 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 "