Re: Response to Sabina-Is my baby RSS?

[Guest guest]

Thanks both for your reply. I apologise for rushing my post without

putting an appropriate subject line. My daughter has a long history,

she was discharged after birth without much thought to her IUGR but

at 2 months got severly sick with RSV stopped breathing and was in

the ICU for a month. There they ran all sorts of tests, skeletal

survey, testing for metabolic disorders. The doctors kept saying

someting is wrong with the baby but nobody came up with anything

definitive. BTW, we live in San T. She was entubated for 2

weeks and after that never ate properly from the bottle and had the

NG tude ever since. She also had high liver enzymes that are finally

coming to normal after a year. She also had hypoparathyroidism (very

rare thing) with abnormally low blood calcium that likely contributed

to her getting into respiratory arrest. But she does not have

hypoglycemia.The endocronologists said likely this would be lifeong

but after a year even that has resolved. She also had one unexplained

fracture at the hospital but OI (brittle bone disease) but was also

ruled out. She also has farsightedness. She had so many things

going on that the doctors (geneticist, endo, neurologist, you name

the specialist she has seen one etc) were baffled but nobody

mentioned RSS. During a recent followup with the geneticist I asked

on my own if she might have RSS (after learning about it through the

internet) and he said she doesnt look line one. But I dont know how

many he has seen. Her endo is looking into GH deficiency and Noonan

syndrome but did not mention RSS either. I will ask him to look in

RSS during our next visit.

I have been to the magic website. We are so far from Chicago and we

dont take Naomi out of the house except for doctors appts since her

illness, so I dont know if she will be strong enough to travel to

Chicago. Will explore the idea. Any suggestion if any epert will

review her records to give an opinion (like Dr H I read about?) For

example, I sent her skeletal survey to the famed Dr of AI

Dupont to rule of skeletal dysplasia, after learning about him

through another group(POLP).

Dispite all this, she is developing beautifully now at 14 months.

Trying to walk and repeats quite a few words. Today she

said 'peekabo " her longest word so far.

Again, thanks all.

Sabina

-

-- In RSS-Support , " eileenreid2003 "

wrote:

> -Sabina...I've had a look at your cute little daughter and as a mum

> of an Rss little girl I would say that Naomi looks like she has

> RSS,Tho' of course I am not a geneticist!!! Just an RSS mum.Best

> wishes xx Eileen-- In RSS-Support , " magicrss "

> wrote:

> > Sabina - I am not a doctor and your geneticist will definitely

run

> a

> > gamut of tests. But I can tell you that after seeing about 200

> RSS

> > and SGA kids over the last 3 years at the Dr. H visit area at the

> > MAGIC convention, your child looks eerily similar to many of

> > the " over-tube-fed " RSS children.

> >

> > Jodi Z. - your thoughts??? I would recommend going to the CDC

> > website to their growth charts and charting her " weight for

> > height. " It sure appears that her weight is too much for her

> > height. Dr. Harbison explains all this at the MAGIC convention

> (can

> > you come in July)? But in a nutshell, being overweight for an

> > RSS/SGA child puts them at an increased risk for developing early

> > andrenarche and insulin resistance (we have seen pubic peach

fuzz

> > on over-tube-fed 2 year olds at the convention!).

> >

> > The triangular face is as follows: if you look at these kids

> (even

> > your daughter's) and draw a line across the top of their heads

> (the

> > top if large and wide) and now draw a single dot for their chin.

> > Now draw two dots for each of their cheekbones. Now draw a line

> > from each end of the top line to the chin. Now draw a downward

> line

> > from the left end of the top line, through the left cheekbone dot

> > down to the chin dot. Do the same for the right side. What you

> > should find is somewhat of a triangle. This is because their

> > mandible area (chin/jaw) is so small in comparison to their

> > face/skull from the cheekbones up).

> >

> > The triangular facies is VERY exacerbated by being underweight.

> As

> > an RSS child becomes older and more normal in weight, the

> triangular

> > facies is more difficult to see.

> >

> > Have you gone to the magicfoundation. org website and gotten all

> of

> > the RSS literature? Make sure you ask for old newsletters

because

> > there is a lot of good information in there.

> >

> > Salem

> >

> >

> > > I am a new member and havde not posted before. My daughter is

> > still

> > > in the investigation stage, she was diagnosed to have skeletal

> > > dysplasia before birth due to short limbs but after birth was

> > labeled

> > > proportionate IUGR. She has some characteristics of RSS, IUGR

(3-

> > 15

> > > lb and 15.5inches at 36 weeks), large forehead with mild

> bossing,

> > > huge fontanels, blue sclera (a rarer trait), and feeding

> problem,

> > > delayed bone age. I dont understand the triangle

> > > face thing, because none of the pictures of the RSS kids have

> seen

> > > the faces look triangular to me. She is on NG tube for almost a

> > year,

> > > she now eats on her own during the day (4 meals each about 4

> > ounches

> > > formula+cereal+baby food mixed to about 30 cal/oz) and 9 hour

> drip

> > > feed at night. Despite her weight she has a cubby appearance.

> THe

> > > geneticist didnt think she was

> > > RSS but did not outright rule it out. Her endo is testing for

> GH,

> > > Noonan syndrome,etc. but has not mentioned RSS. posted a

couple

> > of

> > > pictures (they are taken at 9 and 12 months) in the album under

> > > Naomi. She is now 12.5 lbs and 23 inches, but is quite " chubby "

> in

> > > appearance despite the low weight. Wanted some opinion from

> > experts

> > > here on RSS.

> > > Sabina

[Guest guest]

First of all, sorry for rushing the first post without adding an

appropriate subject line.

To give a bit more history on Naomi, she was discharged promptly

after birth with " proportionate IUGR " diagnosis and no further

testing. Then at two months she got very sick with RSV and ended up

in the ICU for a month. Even doctors at first look thought she was an

achondroplastic dwarf. Anyway she was first found to have sever

hypocalcemeia due to hyporapathyroidism. The endo said she likely was

born with it and will need Ca and Vit D supplements rest of her life,

although it slowly resolved. She was tested for metabolic disorders

and another geneticist labled her with a vey rare form of dwarfism

called " Kenny Caffey " syndrome. The first geneticist didnt think so

and Dr from AI DUpont also did not second that. She also had

unexplained elevated liver function (that is also almost back to

normal now). She also had an unexplained fracture while in the

hospital. OI (brittle bone desease) was ruled out, although if I look

up OI she has quite a few features of that including blue schlera,

wormian bones in skull. Her endo ordered another gamut of tests. In a

nutshell, she has so many things going on that even I can come up

with half-dozen syndromes that she has some features of.

I had sent her x-rays to AI Dupont to rule skeletal dysplasia out. I

wonder if there is a way to send her records to a RSS expert. Ever

since her illness she only leaves the house for Dr appts so I dont

know if she will be upto travelling to Chicago next summer (we live

in San , TX a bit too far to drive).

I want to give her a try without tubes to see how she does. I will

also ask her GI doctors about periactin (by the way, her bottle

aversion started after she was extubated after two weeks on TPN and

entubated, now she eats ok with spoon). But should I still try to

feed her every 4 hours during the night?

Thanks to all who have taken the time to read all this

Sabina mother of Naomi

ps despite her history and multiple issues she is now developing

beautifully, very happy and active, trying to walk, repeats many

words today she said " peekabo " her longest word so far.

[Guest guest]

Sorry for the almost duplicate post. I thought the first post didnt

go through, so I retyped. Please read only one

Sabina