Re: - Possible RSS diagnosis

[Guest guest]

Hi, Greg. Welcome to our group. I looked at the pictures of

and he sure is cute! And you are right - he is a happy child!

You asked if he looks like he has RSS. That is difficult to tell.

He does have the large forehead, the triangular-shaped face and the

rotated ears, but that is all I could tell from the pic. Have you

looked at the other characteristics of RSS? (Check out

www.magicfoundation.org.) If so, does he have other traits?

It is not unusual for RSS kids to walk and talk at a later point in

time. Some, like my son, Max, reach their milestones on target, and

others are delayed. The low muscletone, or hypotonia, is one

factor. But these are not unique to RSS and could be from a miriad

of other causes.

Let us know what other characteristics he has, okay? I know you are

desparately looking for an answer, a name, just something to hold

onto. I know there are many of us who'd like to help you out. We

just need more info.

Looking forward to your next post.

Jodi Z

[Guest guest]

I agree with Jodi Z. that a photo is often hard to really see

everything. My own daughter would rarely look RSS in a photo. Your

son does appear to have low-set ears, I can not tell if his ears are

posteriorly rotated. He appears to have a large forehead but I can

not tell if it is bossed (meaning it sticks out farther than the

plane of his face). His face is slightly triangular shaped, but

that may be just due to low weight, as his face is not terribly

triangular shaped.

Unfortunately, RSS is difficult to diagnose. Do you mind my asking

what state you live in? Have you gone through

www.magicfoundation.org's website and read all the RSS/SGA

information there? Sadly, MAGIC is our only support source.

What else. Developmental delays. Many of our children have minor

to moderate gross and fine motor skill delays, often due to their

head size being so large compared to their body (where is your son's

head circumference on the growth chart, compared to where is weight,

compared to his length??? And many have speech articulation delays

(but expressive skills are on par).

And most children with RSS are normal cognitively. However, some

children with RSS do have much more extensive developmental

problems -- but that is not typical for RSS. So in a nutshell, the

delays that you refer to for your son I would NOT characterize as

being stereotypical for an RSS child.

I would recommend reading the RSS information on the MAGIC website

and going from there. Let us know what state you are in and we can

try pointing you in the right direction.

More than anything. Welcome. Salem (, age 9 1/2,

RSS)

> Hello everyone - great group you have here - I've been able to

learn

> quite alot reading many of the posts.

>

> I have a son, , who we suspect may have RSS. He is 18 1/2

> months old and was originally classified with 'global delay'.

> Meaning both his motor and congitive skills are delayed.

>

> Here is a list of some of the things that can do ...

> - army crawl on the ground

> - enter and exit a sitting position at will

> - climb over obtacles 1 foot high

> - pull to a stand occasionaly (on his own)

> - appears to understand some words (up, outside, spit that out)

> - he plays some face making games and looks for things he's dropped

>

> Here is a list of things he can not YET do ...

> - respond to his name or " where's mommy / daddy "

> - clap hands

> - stack blocks

> - talk more than a bable

> - plus many more things (unfortunately)

>

> His eating in the first 6 months was difficult (many gags and spit

> ups) but he has been much better the past few months. He now

weighs

> 20 pounds (was 5lb 13oz at birth). He is hypotonic as well.

>

> He is in OT/PT and goes for an MRI (CAT was clear)and genetics

test

> in september to may tell us more.

>

> I have posted two pictures of in the photos section if you

> want to see him.

>

> So ... after this long winded note ... I would like to know ...

>

> 1. Does this sound like RSS?

> 2. Does his picture look like an RSS child?

> 3. Do his delays sound 'normal'?

>

> I am certain he will walk (maybe by 3 years) and I hope people can

> give me more confidence that he'll catch up mentally.

>

> Thanks in advance!

> Greg (of barbngreg)

>

> P.S. As the pictures show .. he is a very, very happy child!

[Guest guest]

HI,

He is ADORABLE!

I can't give you too much advice on RSS or not on top of what others

have noticed. My daughter Emerence is 2.5 and is 22lbs and 33 " . She

had motor delays but we started PT at 3 months of age and OT at about

a year for feeding. She has phased out of both although she still

has mild hypotonia throughout her body.

My only thought on the talking / babbling….has your son had a lot of

ear infections? Sometimes that causes hearing difficulty. My

daughter has had 3 sets of ear tubes because she had recurrent otitis

media with effusion. This is when a child gets and ear infection or

just fluid that doesn't infect and it never drains from behind the

ear drum. Then over time the water part of the fluid is reabsorbed

by the body and the remaining part of the fluid now becomes like

jelly or glue and stays behind, affecting the hearing. Which then

affects speech. Has seen an ENT?

Where are you from? If you post your location you might have a

family nearby or someone can recommend a dr. in your area…

, mom to 5.5 and Emerence 2.5 RSS/SGA 22 lbs and 33 "

> Hello everyone - great group you have here - I've been able to

learn

> quite alot reading many of the posts.

>

> I have a son, , who we suspect may have RSS. He is 18 1/2

> months old and was originally classified with 'global delay'.

> Meaning both his motor and congitive skills are delayed.

>

> Here is a list of some of the things that can do ...

> - army crawl on the ground

> - enter and exit a sitting position at will

> - climb over obtacles 1 foot high

> - pull to a stand occasionaly (on his own)

> - appears to understand some words (up, outside, spit that out)

> - he plays some face making games and looks for things he's dropped

>

> Here is a list of things he can not YET do ...

> - respond to his name or " where's mommy / daddy "

> - clap hands

> - stack blocks

> - talk more than a bable

> - plus many more things (unfortunately)

>

> His eating in the first 6 months was difficult (many gags and spit

> ups) but he has been much better the past few months. He now

weighs

> 20 pounds (was 5lb 13oz at birth). He is hypotonic as well.

>

> He is in OT/PT and goes for an MRI (CAT was clear)and genetics test

> in september to may tell us more.

>

> I have posted two pictures of in the photos section if you

> want to see him.

>

> So ... after this long winded note ... I would like to know ...

>

> 1. Does this sound like RSS?

> 2. Does his picture look like an RSS child?

> 3. Do his delays sound 'normal'?

>

> I am certain he will walk (maybe by 3 years) and I hope people can

> give me more confidence that he'll catch up mentally.

>

> Thanks in advance!

> Greg (of barbngreg)

>

> P.S. As the pictures show .. he is a very, very happy child!

[Guest guest]

Hello my name is I too have a son with RSS. His name is Andre he is 6 1\2

years there are pics of him posted on the support site. Well any way I read your

post and I'm here to tell you that it is possible for your RSS child to have

have delays. I'm going to enclose an exert form this article I was reading about

RSS. The site was Gene Reviews if you would like to check it out for yourself.

Andre has RSS as I said before; however he is also P.P.D NOS. Which is a

spectrum of autism. Andre didn't walk until 18 mos so keep your faith. Andre did

reach all his sitting, crawling,bottle holding, and pulling his self to a stand

mile stones on time. He was only delayed in his walking and his speech. You can

get intervention for little one once he turns two years maybe even sooner.There

is light at the end of the tunnel trust me I can vouch for that. My son is only

37lbs and 36 1\2 inches tall( the size of an four years old) he plays hard he

can read he's forming plenty of sentences he's

coming out of his shell and I pray that your little one will as well. However

please remember my son is high functioning autistic. With Only minor delays; but

delays none the less. My advise to you would be get in to a geneticist. God

bless you and your family I hope this helps.

mom to Andre 6 1\2 RSS

Besides the growth issues, neurodevelopment is probably of greatest concern to

parents. Despite reassurances about " normal intelligence " in individuals with

-Silver syndrome in earlier reports, there is growing evidence that

children with this condition are at significant risk of developmental delay

(both motor and cognitive) and learning disabilities. One study of 20 children

with -Silver syndrome between the ages of six and 12 years found the

average IQ to be 86. In addition, 36% of these children required special

education and 48% required speech therapy [Lai et al 1994]. The specific

etiology of the -Silver syndrome was not identified for any of the

children studied.

barbngreg wrote:Hello everyone - great group you have here

- I've been able to learn

quite alot reading many of the posts.

I have a son, , who we suspect may have RSS. He is 18 1/2

months old and was originally classified with 'global delay'.

Meaning both his motor and congitive skills are delayed.

Here is a list of some of the things that can do ...

- army crawl on the ground

- enter and exit a sitting position at will

- climb over obtacles 1 foot high

- pull to a stand occasionaly (on his own)

- appears to understand some words (up, outside, spit that out)

- he plays some face making games and looks for things he's dropped

Here is a list of things he can not YET do ...

- respond to his name or " where's mommy / daddy "

- clap hands

- stack blocks

- talk more than a bable

- plus many more things (unfortunately)

His eating in the first 6 months was difficult (many gags and spit

ups) but he has been much better the past few months. He now weighs

20 pounds (was 5lb 13oz at birth). He is hypotonic as well.

He is in OT/PT and goes for an MRI (CAT was clear)and genetics test

in september to may tell us more.

I have posted two pictures of in the photos section if you

want to see him.

So ... after this long winded note ... I would like to know ...

1. Does this sound like RSS?

2. Does his picture look like an RSS child?

3. Do his delays sound 'normal'?

I am certain he will walk (maybe by 3 years) and I hope people can

give me more confidence that he'll catch up mentally.

Thanks in advance!

Greg (of barbngreg)

P.S. As the pictures show .. he is a very, very happy child!

[Guest guest]

Hi Greg,

I want to give a little encouragement here. My almost 10 year old son

Storm, who has RSS, did not walk until 21 months of age. He did not

crawl until 12 months of age (Mostly due to his enormously heavy

head!) He would scoot around on his bottom most of the time. He had

pt/ot and speech, as his speech was also delayed (due to recurrent

ear infections and fluid constantly in his ear canal) He is totally

up to speed now! He continued pt/ot up through first grade. Speech

ended at age 3. He is still pretty small for his age, but is actually

for the first time on the 5% line of the growth chart for a child his

age. His classmates still tower over him in height. He still gets

very tired, quickly due to low muscle tone and struggles with

headaches. Your little guy is just adorable! Are his pinkies curved?

(That is yet another marker for RSS) Check out the Magic web sight

and look at the markers and see how many he has! Make an appointment

with an endocrinologist as soon as you can. These will help. From

what you have said, you might want to also try and get in to see a

gastrointerologist. (My son still has stomach issues!) I hope this

helps! Good luck to you in this journey!

Blessings,

Carmen, mom to Storm (almost 10)RSS, and Paisley 12 going on 16 and

tall!!! (almost as tall as mom!)

[Guest guest]

Thanks for writing this. Isaac has just started crawling in the last

month or so and is not even close to walking. He will stand holding

onto something for support. We have physical therapy 2x a month and

it has helped but he is still delayed. We just went through our

annual review with the Early Intervention program and he scored

around 8 months on Gross Motor. It used to really bother me when they

would say he is at the level of...but now I have learned that Isaac

will do it eventually and me worrying about it doesn't make it happen

any sooner. Isaac still will not use a fork or spoon and self feeds

but only certain textures. For example- He will pick up crackers but

not bananas.

There is so much pressure put on parents regarding their children

and how they " perform " and I used to feel like I wasn't doing

EVERYTHING possible and I was failing as a mother. I know that isn't

true and I just try to remember that he will get there .. even though

it may not be on MY terms or time frame it will happen. Good Luck and

try not to worry!

Mimi

Mom to :

Isaac (RSS, MCAD, Hypothyroid) almost 19 months 17 lbs 8 oz, 29 "

Sofi 9-21-05

[Guest guest]

I should have added to my post that my son , non RSS, has

severe hypotonia and didn't walk until 26 (yes 26!) months of age.

I guarantee Emerence is doing well because I got her into PT at the

age of 3 months. She also is motivated to move where my son has my

husband's latino trait of being very very very laid back " never do

today what you can do tomorrow, or even next week "

mom to 5 and Emerence 2.5 22lb 33 "

Hello everyone - great group you

have here - I've been able to learn

> quite alot reading many of the posts.

>

> I have a son, , who we suspect may have RSS. He is 18 1/2

> months old and was originally classified with 'global delay'.

> Meaning both his motor and congitive skills are delayed.

>

> Here is a list of some of the things that can do ...

> - army crawl on the ground

> - enter and exit a sitting position at will

> - climb over obtacles 1 foot high

> - pull to a stand occasionaly (on his own)

> - appears to understand some words (up, outside, spit that out)

> - he plays some face making games and looks for things he's dropped

>

> Here is a list of things he can not YET do ...

> - respond to his name or " where's mommy / daddy "

> - clap hands

> - stack blocks

> - talk more than a bable

> - plus many more things (unfortunately)

>

> His eating in the first 6 months was difficult (many gags and spit

> ups) but he has been much better the past few months. He now

weighs

> 20 pounds (was 5lb 13oz at birth). He is hypotonic as well.

>

> He is in OT/PT and goes for an MRI (CAT was clear)and genetics test

> in september to may tell us more.

>

> I have posted two pictures of in the photos section if you

> want to see him.

>

> So ... after this long winded note ... I would like to know ...

>

> 1. Does this sound like RSS?

> 2. Does his picture look like an RSS child?

> 3. Do his delays sound 'normal'?

>

> I am certain he will walk (maybe by 3 years) and I hope people can

> give me more confidence that he'll catch up mentally.

>

> Thanks in advance!

> Greg (of barbngreg)

>

> P.S. As the pictures show .. he is a very, very happy child!

>

>

>

>

>

>

[Guest guest]

Thanks to everyone who responded to my original post. I will answer

a few of the questions that people asked.

1. we live outside hamilton, ontario, canada

2. 's head circumference is approx. 50th percentile

3. His length 30th

4. his weight is off the chart (low)

He has seen a gastroenterologist. We haven't yet seen a genetisist.

He has not seen an ENT since he has only had one ear infection.

Thanks again for the comments ... we've learned the an RSS diagnosis

is a process of elimination and even though he may have some signs

of RSS it will take awhile longer before anyone can confirm it (if

true).

Also it appears that the cognitive delays is facing is not

typical for an RSS child.

Thanks again!

> Hello everyone - great group you have here - I've been able to

learn

> quite alot reading many of the posts.

>

> I have a son, , who we suspect may have RSS. He is 18 1/2

> months old and was originally classified with 'global delay'.

> Meaning both his motor and congitive skills are delayed.

>

> Here is a list of some of the things that can do ...

> - army crawl on the ground

> - enter and exit a sitting position at will

> - climb over obtacles 1 foot high

> - pull to a stand occasionaly (on his own)

> - appears to understand some words (up, outside, spit that out)

> - he plays some face making games and looks for things he's dropped

>

> Here is a list of things he can not YET do ...

> - respond to his name or " where's mommy / daddy "

> - clap hands

> - stack blocks

> - talk more than a bable

> - plus many more things (unfortunately)

>

> His eating in the first 6 months was difficult (many gags and spit

> ups) but he has been much better the past few months. He now

weighs

> 20 pounds (was 5lb 13oz at birth). He is hypotonic as well.

>

> He is in OT/PT and goes for an MRI (CAT was clear)and genetics

test

> in september to may tell us more.

>

> I have posted two pictures of in the photos section if you

> want to see him.

>

> So ... after this long winded note ... I would like to know ...

>

> 1. Does this sound like RSS?

> 2. Does his picture look like an RSS child?

> 3. Do his delays sound 'normal'?

>

> I am certain he will walk (maybe by 3 years) and I hope people can

> give me more confidence that he'll catch up mentally.

>

> Thanks in advance!

> Greg (of barbngreg)

>

> P.S. As the pictures show .. he is a very, very happy child!

[Guest guest]

Welcome back! Please stay around - this group is smart and caring

and can help if you need it. I'm sure you will be hearing from the

Canadians shortly

> > Hello everyone - great group you have here - I've been able to

> learn

> > quite alot reading many of the posts.

> >

> > I have a son, , who we suspect may have RSS. He is 18 1/2

> > months old and was originally classified with 'global delay'.

> > Meaning both his motor and congitive skills are delayed.

> >

> > Here is a list of some of the things that can do ...

> > - army crawl on the ground

> > - enter and exit a sitting position at will

> > - climb over obtacles 1 foot high

> > - pull to a stand occasionaly (on his own)

> > - appears to understand some words (up, outside, spit that out)

> > - he plays some face making games and looks for things he's

dropped

> >

> > Here is a list of things he can not YET do ...

> > - respond to his name or " where's mommy / daddy "

> > - clap hands

> > - stack blocks

> > - talk more than a bable

> > - plus many more things (unfortunately)

> >

> > His eating in the first 6 months was difficult (many gags and

spit

> > ups) but he has been much better the past few months. He now

> weighs

> > 20 pounds (was 5lb 13oz at birth). He is hypotonic as well.

> >

> > He is in OT/PT and goes for an MRI (CAT was clear)and genetics

> test

> > in september to may tell us more.

> >

> > I have posted two pictures of in the photos section if

you

> > want to see him.

> >

> > So ... after this long winded note ... I would like to know ...

> >

> > 1. Does this sound like RSS?

> > 2. Does his picture look like an RSS child?

> > 3. Do his delays sound 'normal'?

> >

> > I am certain he will walk (maybe by 3 years) and I hope people

can

> > give me more confidence that he'll catch up mentally.

> >

> > Thanks in advance!

> > Greg (of barbngreg)

> >

> > P.S. As the pictures show .. he is a very, very happy child!

[Guest guest]

Hi Greg and Barb

My name is Debby, I live in Toronto. My son, Adam, is almost 13 and he has

RSS. He's been on GHT since he was 8 years old. We had problems getting a

firm diagnosis before that. I missed some of your original posts, have you

joined Magic yet? If not, let me know and I'll tell you more about it.

I suppose you are seeing specialists at McMaster? We are at Sick Kids.

I'll keep this real brief tonight, but please feel free to email me any time

if you need some " Canadian " help.

Take care

Debby