Re: Does my daughter have RSS?

[Guest guest]

Hi nne,

My name is Carmen and I have an 8 year old with RSS.

First let me say welcome to this support list, and I hope you also

found the MAGIC foundation. Lots of great info there!

As far as the test goes, only 10% of RSS children test positive for

it, so it is definitely not a definitive test! Your daughter does

sound as if she could have RSS, but only a qualified doctor can

diagnose her.

My son also didn't walk until 22 months, and he is hard to keep up

with now, so don't fret too much about those things!

I hope I have answered a few questions for you.

Blessings,

Carmen, Mom to Storm, age (almost 9) RSS 47 3/4 " and 51 pounds.

and Paisley 11 1/2 (NOT RSS) 5 feet 1 " and far to big for her

britches!

[Guest guest]

Hi nne!

I just wanted to say Hi! This is a great group of people and Carmen

is right to check into MAGIC - www.magicfoundation.org for more

information.

Where do you live? Does your daughter eat? Or is it still a

struggle? Do you have access to any kind of early intervention

programs?

My son Matt is almost 8 years old. He is Small for Gestational Age

(SGA) without catch up growth. He is on growth hormone and lots of

GI meds for his reflux and delayed gastric emptying. SGA kids and

RSS kids have a great deal in common so an absolute diagnosis is not

necessary for you to get a lot of great information from this list.

Welcome and ask questions, you'll get tons of answers!

FYI - I am in the Atlanta area. (Carmen who also replied to you is

in Texas), there is a specialist in New York City if that is

anywhere close to you.....

Beth

> I am new to this support group. My daughter has not yet been

> diagnosed with RSS but we are looking into it. I have some

questions

> for anyone who can answer. Mia was born at 36 weeks and weighed

3lbs

> 12oz. She is now 21 months old. She has been to numerous doctors

> for her growth and delayed motor skills. The endo was checking

her

> for s, one doctor said constitutional short stature, the

> genetist checked her thyroid, etc. I did some research and read

> about RSS.

>

> Mia has never been on the growth chart (she is 17 pounds now and

> about 26 inches). She started to walk now (at 21 months), she has

> cafe aulait spot on her shoulder, curved fifth finger, slow

closing

> soft spot, small chin, reflux at birth, food aversions, had

sucking

> problems, fluid in ears continual (though never an ear infection).

> She has low muscle tone (she has been going to PT, OT and feeding

> therapy for almost one year.) Though she has never been on the

growth

> chart for height or weight her head is in the 5th percentile. She

had

> a bone age test at 15 months and she tested about 9 months. Some

> other things: she had no teeth until 17 months old and has a

dimple

> on the tip of her nose.

>

> I called her endo and asked if he thought Mia could have RSS. He

had

> us come in for blood work. (Me, my husband and Mia) He called us

> about a month later and said the molecular study was normal and to

> come in as scheduled when she turns two to check her growth. He

told

> us we should decide on growth hormones at that time.

>

> Is the blood test a definitive test to rule out RSS? Could Mia

still

> have it? What should I do next?

>

> I'm sorry this email is so long, but I have been anxious over this

> and want to do what is right for her. Oh, by the way I have 3

other

> children who are all between the 75th and 95th percentile for

height

> and weight! Thanks to anyone who read this! nne

[Guest guest]

hi marianne!!

first, welcome to this great group!!! you will get alot support

from it!! where do you live? there is an expert on RSS in NYC!!

my son is 3 /12 and is 25lbs 1oz 34 3/4 " . we all had the gentic

testing done as well and didnt have the chromosone 7 marker, but not

all rss kids have this either!!! by the characteristics you mention

it sounds like your daughter could possibly be rss!!! i am not a dr

so i can say for sure but she sounds like many of our kids!! did

you look at the photos section on the list? also have you been to

Magic's web site www.magicfoundation.org if you become a member

they will send you all kinds of info about rss for free!! maybe you

should get a 2nd opion from another endo? hope you find out soon

and good luck!!

jodie c.

(nicholas-6 nonrss, christopher-3 1/2 rss 25lbs 1oz 34 3/4 "

periactin, ght genotropin(on hold 3m), ADHD(possible), assmentry

(left side 1cm), johnathon-1 yr nonrss)

PS both of my other children are alos a high in the charts nicholas

is 6 and weighs 53lbs & 47 " tall (at last dr appt in march has grown

though over the summer) and johnathon-1yr is 23lbs and 30 " (at last

dr appt, him and christopher share 18m clothes)

> I am new to this support group. My daughter has not yet been

> diagnosed with RSS but we are looking into it. I have some

questions

> for anyone who can answer. Mia was born at 36 weeks and weighed

3lbs

> 12oz. She is now 21 months old. She has been to numerous doctors

> for her growth and delayed motor skills. The endo was checking

her

> for s, one doctor said constitutional short stature, the

> genetist checked her thyroid, etc. I did some research and read

> about RSS.

>

> Mia has never been on the growth chart (she is 17 pounds now and

> about 26 inches). She started to walk now (at 21 months), she has

> cafe aulait spot on her shoulder, curved fifth finger, slow

closing

> soft spot, small chin, reflux at birth, food aversions, had

sucking

> problems, fluid in ears continual (though never an ear infection).

> She has low muscle tone (she has been going to PT, OT and feeding

> therapy for almost one year.) Though she has never been on the

growth

> chart for height or weight her head is in the 5th percentile. She

had

> a bone age test at 15 months and she tested about 9 months. Some

> other things: she had no teeth until 17 months old and has a

dimple

> on the tip of her nose.

>

> I called her endo and asked if he thought Mia could have RSS. He

had

> us come in for blood work. (Me, my husband and Mia) He called us

> about a month later and said the molecular study was normal and to

> come in as scheduled when she turns two to check her growth. He

told

> us we should decide on growth hormones at that time.

>

> Is the blood test a definitive test to rule out RSS? Could Mia

still

> have it? What should I do next?

>

> I'm sorry this email is so long, but I have been anxious over this

> and want to do what is right for her. Oh, by the way I have 3

other

> children who are all between the 75th and 95th percentile for

height

> and weight! Thanks to anyone who read this! nne

[Guest guest]

-- Hi I am , welcome, you will have tons of enjoyment on

this group, everyone pulls through to help you!! My son is 5 and

reading your post reminds me of my ,he went through all the

therapy and still is, he is mild RSS he doesn't really have

the " look " as he did when he was little, he has 25 charecteristics

though ,the pinky curved ...and the list goes on, There are some

kids that are more severe, and then their are kids that are mild.

That is the way I look at it, you can tell by the photo's!

is 5 and 28 pounds and 38 inches wears 12 to 18 month clothes and 6

1/2 infant shoe, so don't feel bad. you can talk to me anytime, I

like it! B has been on Growth Hormones and it has taken us a long

time to decide to put him on it but I am showing progress and 1 inch

of growth in two months!! He does the shot himself now I am so

proud of him, their are several 's on here but if you wanted

to see him it is under s 5 well talk to you soon!!

Hugs to ya, p.s. where do you live? , (in

Tennessee)

- In

RSS-Support , " odmomx4 " <odmomx4@y...> wrote:

> I am new to this support group. My daughter has not yet been

> diagnosed with RSS but we are looking into it. I have some

questions

> for anyone who can answer. Mia was born at 36 weeks and weighed

3lbs

> 12oz. She is now 21 months old. She has been to numerous doctors

> for her growth and delayed motor skills. The endo was checking

her

> for s, one doctor said constitutional short stature, the

> genetist checked her thyroid, etc. I did some research and read

> about RSS.

>

> Mia has never been on the growth chart (she is 17 pounds now and

> about 26 inches). She started to walk now (at 21 months), she has

> cafe aulait spot on her shoulder, curved fifth finger, slow

closing

> soft spot, small chin, reflux at birth, food aversions, had

sucking

> problems, fluid in ears continual (though never an ear infection).

> She has low muscle tone (she has been going to PT, OT and feeding

> therapy for almost one year.) Though she has never been on the

growth

> chart for height or weight her head is in the 5th percentile. She

had

> a bone age test at 15 months and she tested about 9 months. Some

> other things: she had no teeth until 17 months old and has a

dimple

> on the tip of her nose.

>

> I called her endo and asked if he thought Mia could have RSS. He

had

> us come in for blood work. (Me, my husband and Mia) He called us

> about a month later and said the molecular study was normal and to

> come in as scheduled when she turns two to check her growth. He

told

> us we should decide on growth hormones at that time.

>

> Is the blood test a definitive test to rule out RSS? Could Mia

still

> have it? What should I do next?

>

> I'm sorry this email is so long, but I have been anxious over this

> and want to do what is right for her. Oh, by the way I have 3

other

> children who are all between the 75th and 95th percentile for

height

> and weight! Thanks to anyone who read this! nne

[Guest guest]

Weclome to our groupt, You will find this this site is great help

in answering questions.

My daughter (Gaby) also did not test postive on bleed test, so

it is not 100 % correct. Gaby has some reflux and Cafe lait spots,

but not all of the signs for RSS, but yet she has RSS. She walk at

1 yrs and is a really good eater. It is important that we find a

good Endo Doc. before you start growth Hormone. if you join and

call Magic Found. they can recommend doctor's in your area. A lot

of Doc. to not no anything about RSS, so please be careful how you

see.

Wish you the best of luck

Stell mom of Gaby 22 month RSS, Amani 7 yrs non-RSS and Andres 5 yrs

non-rss

> I am new to this support group. My daughter has not yet been

> diagnosed with RSS but we are looking into it. I have some

questions

> for anyone who can answer. Mia was born at 36 weeks and weighed

3lbs

> 12oz. She is now 21 months old. She has been to numerous doctors

> for her growth and delayed motor skills. The endo was checking

her

> for s, one doctor said constitutional short stature, the

> genetist checked her thyroid, etc. I did some research and read

> about RSS.

>

> Mia has never been on the growth chart (she is 17 pounds now and

> about 26 inches). She started to walk now (at 21 months), she has

> cafe aulait spot on her shoulder, curved fifth finger, slow

closing

> soft spot, small chin, reflux at birth, food aversions, had

sucking

> problems, fluid in ears continual (though never an ear infection).

> She has low muscle tone (she has been going to PT, OT and feeding

> therapy for almost one year.) Though she has never been on the

growth

> chart for height or weight her head is in the 5th percentile. She

had

> a bone age test at 15 months and she tested about 9 months. Some

> other things: she had no teeth until 17 months old and has a

dimple

> on the tip of her nose.

>

> I called her endo and asked if he thought Mia could have RSS. He

had

> us come in for blood work. (Me, my husband and Mia) He called us

> about a month later and said the molecular study was normal and to

> come in as scheduled when she turns two to check her growth. He

told

> us we should decide on growth hormones at that time.

>

> Is the blood test a definitive test to rule out RSS? Could Mia

still

> have it? What should I do next?

>

> I'm sorry this email is so long, but I have been anxious over this

> and want to do what is right for her. Oh, by the way I have 3

other

> children who are all between the 75th and 95th percentile for

height

> and weight! Thanks to anyone who read this! nne

[Guest guest]

nne,

Welcome to this great group of people. You have definitely found the

right place to ask questions and get a little more info. on RSS. We

would all love to see a picture of her. Have you looked at the other

photos yet? Does your daughter resemble the look these children

have? What you listed sounds a lot like the characteristics of RSS,

the only thing that I question is that her head is only a the 5th

percentile. Most of the kids have larger head circs. than that. But

the other things are dead on.

As others have told you, the UPD 7 study is not the end all to

whether your daughter has RSS. It only shows up in 10% of the cases,

and they say that it is the kids with a milder form of RSS that have

the duplicate 7 chromosome from mom. So, don't let that discourage

you. There is no definitive test for RSS, it is usually a judgment

call on the part of a doctor.

There is an awesome Dr. in New York that specializes in

Silver. Her name is Dr. Madeleine Harbison, and she is wonderful

with these children. She loves them more than words can say. I took

my son to her when he was 17 months old and she diagnosed him FINALLY

with RSS. She is a miracle worker and she made a big difference in

my sons health and growth! Just ask anyone here and they will atest

to that! )

My son, is 26 months old now, and weighs around 18 1/2 lbs.

He has lost just a very little due to feeding changes per Dr. H, but

it is what she wants him to be doing right now. He did not walk

until right beofre his second birthday, but now he is hard to keep up

with! ) He is very smart and he talks very well. He lagged so

much in his gross motor skills so he made up for it

cognetively! )

Anyway, I just wanted to introduce myslef and welcome you to the

group. I hope you find some answers here as we are all very happy to

help out any way we can.

Talk to you later,

Jodi R.

One of the many!! )

> I am new to this support group. My daughter has not yet been

> diagnosed with RSS but we are looking into it. I have some

questions

> for anyone who can answer. Mia was born at 36 weeks and weighed

3lbs

> 12oz. She is now 21 months old. She has been to numerous doctors

> for her growth and delayed motor skills. The endo was checking her

> for s, one doctor said constitutional short stature, the

> genetist checked her thyroid, etc. I did some research and read

> about RSS.

>

> Mia has never been on the growth chart (she is 17 pounds now and

> about 26 inches). She started to walk now (at 21 months), she has

> cafe aulait spot on her shoulder, curved fifth finger, slow closing

> soft spot, small chin, reflux at birth, food aversions, had sucking

> problems, fluid in ears continual (though never an ear infection).

> She has low muscle tone (she has been going to PT, OT and feeding

> therapy for almost one year.) Though she has never been on the

growth

> chart for height or weight her head is in the 5th percentile. She

had

> a bone age test at 15 months and she tested about 9 months. Some

> other things: she had no teeth until 17 months old and has a

dimple

> on the tip of her nose.

>

> I called her endo and asked if he thought Mia could have RSS. He

had

> us come in for blood work. (Me, my husband and Mia) He called us

> about a month later and said the molecular study was normal and to

> come in as scheduled when she turns two to check her growth. He

told

> us we should decide on growth hormones at that time.

>

> Is the blood test a definitive test to rule out RSS? Could Mia

still

> have it? What should I do next?

>

> I'm sorry this email is so long, but I have been anxious over this

> and want to do what is right for her. Oh, by the way I have 3

other

> children who are all between the 75th and 95th percentile for

height

> and weight! Thanks to anyone who read this! nne