Re: New member -- long answer

[Guest guest]

Hi Lea,

Welcome to our group. I hope we can answer all your questions.

Please let me explain a little about RSS ( Silver Syndrome).

First, as far as anyone knows, this is NOT a life threatening

disorder. Your son should be just fine.

This is primarily a growth disorder. Typically boys with this

disorder who do not receive growth hormone maybe about 5 feet tall on

average. Girls, a little shorter.

The characteristic that is the most troubling and the one that causes

the most distress is the lack of appetite. Many RSS kids need a

feeding tube to help them get enough calories. Even without a feeding

thube, they will eat but it is such a small amount that it is

frightening.

There are other physical characteristics. Incurved baby finger, large

head ( actually head is normal but body is small), low set ears, thin

upper lip, slow closure of the soft spot on the head and many others.

Some RSS kids have hearing problems because the ears are the last

major organ to move into position during development in the womb.

Because they are growing slowly before birth (IUGR -- Intra Uterine

Growth Retardation), the ears do not move into their proper

position.

When you see a geneticist, they will ask a whole lot of questions and

take a whole lot of measurements of your son. They may also do a

blood test because about 10% of RSS is caused by a child having 2 #7

chromosomes from you, his mother. The other 90% of RSS cases are of

unknow cause. Ohter than that, there is no test to determine RSS. It

is usually diagnosd by the process of elimination --once the hospital

has eliminated your savings, then they give you answer -- just

kidding on that part. Seriously, once a genecticist has eliminated

other probable causes, then the only thing left is RSS. Sometimes,

the geneticist concludes that a child does not have RSS but is just

small -- SGA (Small for Gestational Age). Either way, the treatment

is the same i.e. do what you can to increase caloric intake and maybe

use growth hormone to help grow, muscle, bone and yes add height.

After the geneticist has confirmed a diagnosis, you maybe asked to go

see a pediactric endocrinologist. This person might run some

additional blood tests to make sure the lack of growth is not caused

by some other endocrine problem like low growth hormone levels etc.

Generally, this is the doctor who may be the primary doctor treating

your son for RSS.

Last, there is no cure for RSS. The common treatment is increase

caloric intake with high calorie foods and depending on your

circumstances and feelings, maybe growth hormone once a child is

older than 2.

There are some other issues, but there is lots of time to discus

these.

By the way, where do you live, maybe we can suggest a doctor with

experience with RSS. Can you tell us something about your son? How

old is he? How much does he weigh? How tall (long) is he?

My son, is 7 1/2. He is in second grade, he needs some speech

therapy and some O/T. He is pretty smart and is doing great. He has

been on growth hormone for almost 3 years and he also takes Periactin

to help stimulate his appetite.

I hope this helps.

Ken M

>

> My son Rhys was just referred to a geneticist.They think he has

> RSS.Right now we are very scared and not sure what to expect