Re: SHOX & other stuff

[Guest guest]

Marcy - I will try and answer several of your questions.

First of all, SHOX to my limited knowledge is a genetics test that

looks at the blood DNA and attempts to identify any genetic

abnormalities (s can be found this way).

The brief list of features that your doctor listed are unfortunately

VERY common with a whole host of other disorders, so it is likely

that your endo is not comfortable with the RSS diagnosis. The most

common features are broad forehead that looks like it sticks out

(bossed), and triangular shaped face. But he didn't list those,

does your daughter have those??

Children who are born SGA (full term under about 18 inches long and

5lbs 5 oz) and do not have RSS still deal with all of the other

functional abnormalities that RSS kids do -- primarily lack of

appetite and failure to gain weight and height. In my latest data

that I am compiling for the Guidebook, although my subject pool for

SGA Only is quite small (N=11), I have found that the reflux and

delayed gastric emptying incidence rate is FAR HIGHER for SGA kids

than for RSS only kids.

Has your daughter been evaluated by a good Children's Hospital

pediatric gastrointerologist (peds GI doctor). With a child who has

been born SGA and has failed to catch-up, a full GI work up is

strongly recommended by our parent group. Between 70 & 90% of our

children have tested positive for silent reflux, and more than 50%

are testing positive for delayed gastric emptying. Both of these

functional abnormalities can cause a child to NOT EAT, and hence,

not gain weight.

I think you should stop worrying about an actual diagnosis, once the

SHOX test is done, since they have probably ruled out anything that

could be life threatening. Instead, focus on what you can

practically do to get her to grow and gain weight. Based on her SGA

birth, she qualifies for growth hormone treatment, if you choose to

go that route to increase her height to her target height level. A

good peds GI physician can help you diagnose and treat any GI

issues, and help guide you in the right ways to get weight onto her.

Good luck! Salem

> Hello, Has any one every heard of this blood test?

> We went to see an endo and he said he would draw blood in October

> because of the lab etc...I got a copy of a letter to na

> pediatrician saying she has some " findings compatible with

> Silver syndrome including leg, ear discrepancy, small fifth

fingers

> with clinodactyl, sclerae are bluish, highpitched voice,low

appetite.

> none of this is a diagnostic in my mind " I doubt this height slow

> down other than short staure itself. Father's side family is

short " (

> My husband told him his ancestors were short but his dad 5'11 " ,

> brothers 6'and 5'10 " )who knows maybe but why are his nieces and

mine

> all in the 75% hieght? My husband is short but the genetic doctor

> told him if he came to him when he was young he would be 4inches

> taller from not having sclosis and with out shots.

> I'm confused now, she hasn't grown a 1/2inch since January, she

has

> gained 3lbs with her tonsils out, pediasure 3times a day with

foods

> she will eat and meds. He wants to see her back on october to do a

> SHOX blood test. Her T4 was 11 in January now It is 14 but he

feels

> that " it is not hypo or hyperthyroid and may represent a thyroid

> binding globulin variant " My husband hated him I didn't feel

either

> way. But now what do i do for na. She does eat very poorly.

> She'll say at dinner I ate today already mom. We have two doctors

> that say it is and now 2 that don't. I do have an appointment with

> another endo in October that I was going to cancel but shouls I go

> and get his opion? Sorry for babling any advise would be helpful

> Thanks all Marcy

> Ps sorry for the spellings

[Guest guest]

Thank you .

na as a baby did have a big forehead however it is now a high

hair line or maybe still a little big it has been the only thing on

the charts. She does have a small chin that make her look trianglur

slightly.Her pedi GI is the one that says she has Russel silver

syndrome. That's why I was asking. Either way she is beautiful and as

you said nothing life threating which makes me count my blessings

ever day. She does have delayed muscle tone.We mentioned the growth

hormones but he said only time will tell if she is a canidate. We see

her Pedi GI tuesday so I will bring him the letter for his records.

He took blood to check for syndrome and it came back negative

from what I remember when she was 2.

Thanks again

Marcy na's 3yrs9mnth 33.25in 25#

> > Hello, Has any one every heard of this blood test?

> > We went to see an endo and he said he would draw blood in October

> > because of the lab etc...I got a copy of a letter to na

> > pediatrician saying she has some " findings compatible with

> > Silver syndrome including leg, ear discrepancy, small fifth

> fingers

> > with clinodactyl, sclerae are bluish, highpitched voice,low

> appetite.

> > none of this is a diagnostic in my mind " I doubt this height slow

> > down other than short staure itself. Father's side family is

> short " (

> > My husband told him his ancestors were short but his dad 5'11 " ,

> > brothers 6'and 5'10 " )who knows maybe but why are his nieces and

> mine

> > all in the 75% hieght? My husband is short but the genetic doctor

> > told him if he came to him when he was young he would be 4inches

> > taller from not having sclosis and with out shots.

> > I'm confused now, she hasn't grown a 1/2inch since January, she

> has

> > gained 3lbs with her tonsils out, pediasure 3times a day with

> foods

> > she will eat and meds. He wants to see her back on october to do

a

> > SHOX blood test. Her T4 was 11 in January now It is 14 but he

> feels

> > that " it is not hypo or hyperthyroid and may represent a thyroid

> > binding globulin variant " My husband hated him I didn't feel

> either

> > way. But now what do i do for na. She does eat very poorly.

> > She'll say at dinner I ate today already mom. We have two doctors

> > that say it is and now 2 that don't. I do have an appointment

with

> > another endo in October that I was going to cancel but shouls I

go

> > and get his opion? Sorry for babling any advise would be helpful

> > Thanks all Marcy

> > Ps sorry for the spellings