Is IUGR present for all RSS kids?

[Guest guest]

Hi. I'm new to this wonderful site! My son is three years old and

weighs 25.6 lbs. He's always been below 5th percentile, has had

reflux, poor appetite, food allergies, and we've been through the

standard battery of tests (endoscopy, all the blood tests, stool

tests, urine tests, cystic fibrosis test, etc.)to track down the

reasons for his failure to thrive diagnosis. He's currently on

Periactin and Prevacid (and has tried Zantac, Omapred, and Prilosec

in the past) and is just starting to touch the 5th percentile line

on the growth chart for the first time.

A few months ago, a woman at our GI's office took a look at our son

and happened to ask if he had RSS. We had no idea what she was

talking about. Her daughter has it, and she pointed out a number of

physical characteristics my son has that seemed on-target with RSS

(triangle-shaped face, small chin, downturned mouth, large

head/small body, bluish tinge to whites of eyes, curved fifth digit,

high-pitched voice, etc.). Of course, I was all over the Internet

the second we got home! Anyway, we saw a geneticist last week to

confirm/rule out RSS, but didn't get a 100% ruling: Everything

pointed to RSS, except for the fact that Jack wasn't low birth

weight/no IUGR. In any case, the doctor thought the high-pitched

voice could indicate a growth hormone deficiency, so we'll be seeing

an endo in a few weeks to get his opinion on RSS and possible GHD.

My question is: Is anyone familiar with RSS cases where low birth

weight or IUGR was not present? (My son was 6 lbs., 11 ozs. at birth

and born just a few days shy of his due date; I had preeclampsia,

but don't know if that's relevant!) Also, any correlation between

RSS and walking on tiptoes ALL THE TIME?? Just curious!

Thanks in advance for your thoughts!!

[Guest guest]

My daughter wasn't low birth weight although she was significantly smaller at

birth than my older three children, 6lbs 8oz. We do have a positive diagnosis.

At 11 months she was 11lbs 8oz 21in when I found this site. Now at five and one

half she is 37lbs and 42in. She is one of the heavier taller RSS kids and has no

significant health issues related to RSS, just some of the more mild concerns. I

believe my dates were wrong on her conception as I began labor 5 weeks early

which was stopped medically and that had never happened to me before, she was

born three weeks early and although small had a full head of hair subcutaneous

fat long fingernails etc. So she may have been SGA but got an extra couple of

weeks inside due to my menstruating in early pregnancy and being off on dates,

anyway we'll never know. Welcome! There are a lot of great people here with a

wealth of information and experience and great support for whatever you're

facing from RSS to hurricanes!

Is IUGR present for all RSS kids?

Hi. I'm new to this wonderful site! My son is three years old and

weighs 25.6 lbs. He's always been below 5th percentile, has had

reflux, poor appetite, food allergies, and we've been through the

standard battery of tests (endoscopy, all the blood tests, stool

tests, urine tests, cystic fibrosis test, etc.)to track down the

reasons for his failure to thrive diagnosis. He's currently on

Periactin and Prevacid (and has tried Zantac, Omapred, and Prilosec

in the past) and is just starting to touch the 5th percentile line

on the growth chart for the first time.

A few months ago, a woman at our GI's office took a look at our son

and happened to ask if he had RSS. We had no idea what she was

talking about. Her daughter has it, and she pointed out a number of

physical characteristics my son has that seemed on-target with RSS

(triangle-shaped face, small chin, downturned mouth, large

head/small body, bluish tinge to whites of eyes, curved fifth digit,

high-pitched voice, etc.). Of course, I was all over the Internet

the second we got home! Anyway, we saw a geneticist last week to

confirm/rule out RSS, but didn't get a 100% ruling: Everything

pointed to RSS, except for the fact that Jack wasn't low birth

weight/no IUGR. In any case, the doctor thought the high-pitched

voice could indicate a growth hormone deficiency, so we'll be seeing

an endo in a few weeks to get his opinion on RSS and possible GHD.

My question is: Is anyone familiar with RSS cases where low birth

weight or IUGR was not present? (My son was 6 lbs., 11 ozs. at birth

and born just a few days shy of his due date; I had preeclampsia,

but don't know if that's relevant!) Also, any correlation between

RSS and walking on tiptoes ALL THE TIME?? Just curious!

Thanks in advance for your thoughts!!

[Guest guest]

hi and welcome to this grat group of support!!! my son is also 3

(he will be 4 in dec). he was 5lbs 10oz when born and i had a

planned c-section at 38 weeks becuase they thought he was going to

be 8lbs atleast ( i had to have a c-section with my first son who

was 9lbs 4 oz). i do belive there are a couple of people on her

whose kids were 6lbs at birth (jen salem would probably know for

sure). where do you live? have you gone to the magic foundation

website yet? www.magicfoundation.org good luck!!

jodie c.

> Hi. I'm new to this wonderful site! My son is three years old and

> weighs 25.6 lbs. He's always been below 5th percentile, has had

> reflux, poor appetite, food allergies, and we've been through the

> standard battery of tests (endoscopy, all the blood tests, stool

> tests, urine tests, cystic fibrosis test, etc.)to track down the

> reasons for his failure to thrive diagnosis. He's currently on

> Periactin and Prevacid (and has tried Zantac, Omapred, and

Prilosec

> in the past) and is just starting to touch the 5th percentile line

> on the growth chart for the first time.

>

> A few months ago, a woman at our GI's office took a look at our

son

> and happened to ask if he had RSS. We had no idea what she was

> talking about. Her daughter has it, and she pointed out a number

of

> physical characteristics my son has that seemed on-target with RSS

> (triangle-shaped face, small chin, downturned mouth, large

> head/small body, bluish tinge to whites of eyes, curved fifth

digit,

> high-pitched voice, etc.). Of course, I was all over the Internet

> the second we got home! Anyway, we saw a geneticist last week to

> confirm/rule out RSS, but didn't get a 100% ruling: Everything

> pointed to RSS, except for the fact that Jack wasn't low birth

> weight/no IUGR. In any case, the doctor thought the high-pitched

> voice could indicate a growth hormone deficiency, so we'll be

seeing

> an endo in a few weeks to get his opinion on RSS and possible GHD.

>

> My question is: Is anyone familiar with RSS cases where low birth

> weight or IUGR was not present? (My son was 6 lbs., 11 ozs. at

birth

> and born just a few days shy of his due date; I had preeclampsia,

> but don't know if that's relevant!) Also, any correlation between

> RSS and walking on tiptoes ALL THE TIME?? Just curious!

>

> Thanks in advance for your thoughts!!

[Guest guest]

Welcome, although I don't know your name. My name is Salem

and I have an 8 1/2 year old daughter with RSS, and Katy Frissora

and I are currently the volunteer coordinators for the MAGIC

Foundation's RSS/SGA website.

To answer your question, in two parts.

First, not all RSS children or even SGA children have IUGR. IUGR is

a measure of in-utero growth; SGA is a measure of size at birth.

IUGR must have shown that the child wasn't growing properly in at

least TWO ultrasounds, to be counted as IUGR. The fact is that the

vast majority of RSS children are IUGR, but may not have had the

ultrasounds.

Second, not all RSS children are born SGA. It used to be thought

that it had to be. However, for example, in the data I am

collecting for our to-be-Guidebook,of the 72 children confirmed RSS

by Dr. Harbison at the 2003 or 2004 convention, 85.71% to date were

born SGAweight, which means that roughly 15% were MORE than 5lbs

5oz. 81.16% were SGAlength, which again means that almost 18% had

lengths greater than 18.5 " long.

Now, having said all that. In virtually all cases where the

children are born non-SGA, the children had siblings that were born

at least 1-2 pounds HEAVIER than the child. So essentially, the

child was IUGR for what they " should " have been in length and weight

compared to their siblings. The tougher cases are the few kids for

whom no siblings are available.

So, the answer is yes, an RSS child can be born and NOT be SGA.

However, many growth hormone deficient children are born at normal

weights and lengths, and then their lengths gradually fall off

somewhere between 6 months and 24 months... The majority of GHD

children are NOT underweight, however; but again, some are.

Where do you live? Do you have a lot of faith in your pediatric

endocrinologist?

Salem

> Hi. I'm new to this wonderful site! My son is three years old and

> weighs 25.6 lbs. He's always been below 5th percentile, has had

> reflux, poor appetite, food allergies, and we've been through the

> standard battery of tests (endoscopy, all the blood tests, stool

> tests, urine tests, cystic fibrosis test, etc.)to track down the

> reasons for his failure to thrive diagnosis. He's currently on

> Periactin and Prevacid (and has tried Zantac, Omapred, and

Prilosec

> in the past) and is just starting to touch the 5th percentile line

> on the growth chart for the first time.

>

> A few months ago, a woman at our GI's office took a look at our

son

> and happened to ask if he had RSS. We had no idea what she was

> talking about. Her daughter has it, and she pointed out a number

of

> physical characteristics my son has that seemed on-target with RSS

> (triangle-shaped face, small chin, downturned mouth, large

> head/small body, bluish tinge to whites of eyes, curved fifth

digit,

> high-pitched voice, etc.). Of course, I was all over the Internet

> the second we got home! Anyway, we saw a geneticist last week to

> confirm/rule out RSS, but didn't get a 100% ruling: Everything

> pointed to RSS, except for the fact that Jack wasn't low birth

> weight/no IUGR. In any case, the doctor thought the high-pitched

> voice could indicate a growth hormone deficiency, so we'll be

seeing

> an endo in a few weeks to get his opinion on RSS and possible GHD.

>

> My question is: Is anyone familiar with RSS cases where low birth

> weight or IUGR was not present? (My son was 6 lbs., 11 ozs. at

birth

> and born just a few days shy of his due date; I had preeclampsia,

> but don't know if that's relevant!) Also, any correlation between

> RSS and walking on tiptoes ALL THE TIME?? Just curious!

>

> Thanks in advance for your thoughts!!

[Guest guest]

Hi Marcy,

Sorry I didn't post sooner, I haven't been able to keep up with my aol

account this week.

My son Henry is 4yrs old and currently weighs 32 1/2lbs and is 39in tall.

And was diagnosed with RSS by Dr. Harbison when he was two years old and weighed

19lbs and was only 31in tall well below the 5% He was not IUGR or SGA. He

was 7lbs, 7oz and 19 1/2 in at birth. He nursed well and remained in the 50%

until about 6months. He followed the SAME path as his sister who was born in

the 50% and by 6 months began to dip to towards 5%. I assumed Henry was

following the same growth pattern as his sister. Our pediatrician at the time

said " somebody has to be in the 5% " . I am petite, my husband 5'11'' but is very

thin, so it was no surprise that our kids were small.

The difference came when Henry began to flatline in both weight and height.

You can be skinny but you have to grow and follow a path. continues

to remain in her 3% - 5% growth pattern but by Henry's 2nd year well visit

there was concern about his growth. I lthink back and now I realize for a year

he had not tried a new food at all. But he showed no signs of reflux or any

other discomfort.

Fortunately I found this site, the Magic Foundation and Dr. H through another

mom with a daughter who has RSS. I had visited three Ped. Endo's prior to

Dr. H all believing he did not have RSS because he did not have what they felt

was a " classic " RSS look and that his cognitive abilities were too high.

Obviously they did not have many patients with RSS since I now know not all kids

with RSS share the same phenotypes. There is a list and some have some things

and some have others.

For Henry because most of his issues are about his GI system, after the

nissan, g-tube, and pyloro surgery we finally began to see progress. He was

making

up for a caloric deficit and a year after surgery Dr.H prescribed GHT and he

has done wonderfully with that too. There is no way Henry would have achieved

a

12 1/2 lb ,8 in growth spurt in just 2 years with out Dr.Harbison's protocol.

Hope my jabbering helps - we live in Westchester County NY about an hour and

a half from Hartford CT. Would you consider making a trip to see Dr.

Harbison?

Have a nice weekend,

Henry (RSS, 4yrs, 32lbs, 39in, Prilosec, Zantac, Peptamen JR, Periactin,

Nutropin, Miralax)

(nonRSS, 8yrs, 45lbs, 48in)

[Guest guest]

Wow, you pinpointed the exact information I wanted to know! Thank

you!!

What's interesting is that Jack's sibling (my one-year-old, Josie)

weighed 5 lbs., 14 ozs. at birth---smaller than Jack, so it's tough

to gauge the sibling theory! She is ALSO 5th percentile and

currently weighs 16 lbs. (same as Jack at 1 yr.). I assume it's

uncommon for siblings to have RSS?

I live in Connecticut, and we haven't seen a pediatric endo yet. The

geneticist we saw last week will be referring us to one (I assume in

the Hartford area, since that seems to be where all the specialists

are!). We're not quite sure what to expect (other than an x-ray for

bone age and a second opinion on the RSS/GHD ruling, since I know

there isn't an accurate blood test for diagnosis). Any suggestions

for what to ask him/her? (I always seem to come up with a list

of " great questions to ask the doctor " in the car ride home, so I

figured I'd ask the experts out there!) Thanks!

Marcy (mom to Jack, 3 yrs., 25.6 lbs.; and Josie, 1 yr., 16 lbs.)

> > Hi. I'm new to this wonderful site! My son is three years old

and

> > weighs 25.6 lbs. He's always been below 5th percentile, has had

> > reflux, poor appetite, food allergies, and we've been through

the

> > standard battery of tests (endoscopy, all the blood tests, stool

> > tests, urine tests, cystic fibrosis test, etc.)to track down the

> > reasons for his failure to thrive diagnosis. He's currently on

> > Periactin and Prevacid (and has tried Zantac, Omapred, and

> Prilosec

> > in the past) and is just starting to touch the 5th percentile

line

> > on the growth chart for the first time.

> >

> > A few months ago, a woman at our GI's office took a look at our

> son

> > and happened to ask if he had RSS. We had no idea what she was

> > talking about. Her daughter has it, and she pointed out a number

> of

> > physical characteristics my son has that seemed on-target with

RSS

> > (triangle-shaped face, small chin, downturned mouth, large

> > head/small body, bluish tinge to whites of eyes, curved fifth

> digit,

> > high-pitched voice, etc.). Of course, I was all over the

Internet

> > the second we got home! Anyway, we saw a geneticist last week to

> > confirm/rule out RSS, but didn't get a 100% ruling: Everything

> > pointed to RSS, except for the fact that Jack wasn't low birth

> > weight/no IUGR. In any case, the doctor thought the high-pitched

> > voice could indicate a growth hormone deficiency, so we'll be

> seeing

> > an endo in a few weeks to get his opinion on RSS and possible

GHD.

> >

> > My question is: Is anyone familiar with RSS cases where low

birth

> > weight or IUGR was not present? (My son was 6 lbs., 11 ozs. at

> birth

> > and born just a few days shy of his due date; I had

preeclampsia,

> > but don't know if that's relevant!) Also, any correlation

between

> > RSS and walking on tiptoes ALL THE TIME?? Just curious!

> >

> > Thanks in advance for your thoughts!!

[Guest guest]

Hi Marcy,

Where in CT are you? We are in Westchester County NY. If you can,

go to NYC to see Dr. Harbison, she is the best. There have been a

few cases of siblings having RSS, but it is very rare.

Judith, Steve, (RSS) and (non RSS) 4 1/2 year old twins

[Guest guest]

I'm in Fairfield County, so not too far from NYC. I've been reading

the archives on this site and learning so much about RSS and Dr.

Harbison. We didn't get a clear " ruling " on whether or not Jack has

RSS from the geneticist we saw, so she wanted us to see a pediatric

endo for the x-ray and a second opinion on RSS or possible HGD. I

was kind of bummed out that we didn't get a clear " yes " or " no " ; is

this fairly common? I guess I thought it would just be a clear cut

answer, but nothing has been easy on our " failure to thrive " three-

year quest! Hee. If I don't feel like we're getting anywhere, I'd

love to see Dr. H and get her opinion. Is it very difficult to get

an appointment with her?

Marcy K. (can't believe there's another Marcy out there---that never

happens!)

> Hi Marcy,

>

> Where in CT are you? We are in Westchester County NY. If you

can,

> go to NYC to see Dr. Harbison, she is the best. There have been a

> few cases of siblings having RSS, but it is very rare.

>

> Judith, Steve, (RSS) and (non RSS) 4 1/2 year old

twins