Re: New member (long)

[Guest guest]

,

Welcome to the group! Have you joined Magic? Their website is:

www.magicfoundation.org THey have a ton of resources and articles

about all the things you will be, and have been, dealing with.

On a practical matter, you may want to focus on finding a peds

endocrinologist and a pediatric GI doctor that can help with the

more immediate problems of weight gain. A good peds Endo may know a

little about RSS, or at least heard of it. You'll tell from the

list that most parents know as much if not more than the doctors and

the first step is finding a doctor that either knows about RSS or at

least is willing to learn.

The geneticist may or may not be able to confirm an RSS diagnosis.

It would be great to know, so keep looking for one. But I wanted to

encourage you to talk to other specialist, too.

Dr. Harbison is talked a lot about on this list. Se is the RSS/SGA

guru (peds endo) but is in New York. We saw her at convention in

July in Chicago, but the families that can make the trip to NY are

never disappointed. She is a fantastic resource for our kids.

Anyway, welcome to the group. My son is 7 and has SGA, not RSS, but

similar problems. Ask away, we'll do our best to help!

Beth H.

[Guest guest]

Hi ,

Welcome to the group. I was wondering, is there any way you can post

of picture of Xavier? There is a photo section here, if you look to

your left, and you can post pictures in it. Have you looked at any

of the other kids in the section? Does Xavier have the " look " that

the RSS kids have? I would love to see his picture. Anyway, it does

sound like you have been through a lot, and I hope that you can find

out for sure if he has RSS or not. You are not alone in your

eventful preganancy. A lot of us where told that our babies would

not make it out of the womb, and if they did, they wouldn't live

long. So, you have come to the right place for support with all of

this.

A little history on my son . He is almost 20 months old (23rd)

and he weights in at a whopping 14 lbs! Let me tell you, that is

amazing for him, and it was h**l getting him there. For the longest

time he would only gain one ounce a week, and sometimes he wouldn't

even gain that. He had some set backs, too, to where he lost

weight. So, it was mentally and emotionally grueling on my husband

and I since we didn't know what 's diagnosis was. We just

learned on October 23 that he does indeed have RSS, and taht was only

confirmed through Dr. Harbison. I am sure you have read about her,

so I won't go into that. But, she was so worried about that

instead of him having to wait through the normal three months it

takes to get in to see her, she got him in in two weeks! Turns out

that he was VERY calorie defficient and he would either have to start

taking more volume and concentrated formula through his tube, or he

would have to be fed via central line. That was not what I was

wanting for him, so I was determined to get him to feed better

through his tube. He has done well, but not as well as she would

like. He stillhas trouble and throws up often, but she thought that

this was a small price to pay for him to feed through his tube

instead of the invasive central line.

Anyway, my advice to you is to keep pushing for a diagnosis for your

son. Try to find a doctor that is willing to be on your side about

this. I was telling Conny that I was lucky enought to have a

pediatrician that was very concerned about my son and was willing to

do wahtever it took to get help for my son. He made referals, and

helped us so much. I feel very fortunate taht 's doctor was

not one of those that says, " Oh well he's just small, he'll be okay

or grow out of it. " He realized that there was a problem and that he

wasn't gaining and he did something about it. It was through him in

a round about way that we got to Dr. H. Thank God. I finally know

what 's diagnosis is and we can move on with the proper

treatment for him.

I hope you will get to this point, too, and find out more. I know

how hard it is not knowing and not really knowing what to do for

him. I was the same way with . I was lucky to find this group

and I asked questions, and everyone helped me so much, and lovingly

told me that I needed to get him some help. No one wanted to scare

me, but some were worried about and his weight, they will tell

you.

I hope you get answers,

Jodi R.

's mommy, IUGR/RSS 20 months old in 4 days!

> Hi, I just joined your list a few days ago and have been reading

your posts

> to get an idea of what this is all about.

> I just found out what RSS is after 14 months of fighting with Drs.

from

> another Mom. I found a number here in Nevada for a

Rare/Undiagnosed Genetic

> disorders support group, and after staring at it for a few days, I

called it. I

> started talking to the Mom who answered the phone and told her

about my Son

> Xavier. She told me that her son has the 18th chromosome

abnormality as well, and

> basically told me everything that is wrong with my son...I was

speechless.

> After 14 months of Drs. telling me they didn't know why he wouldn't

gain weight

> and was " just small " (I HATE that phrase!) I find this woman who

knows what I

> am talking about! When I was 16 weeks pregnant, I had the " triple

screen "

> blood test. No one was expecting it to come back with anything,

since I was

> only 23 at the time, and have two older healthy children. But it

came back with

> the baby being at high risk for down syndrome. I had a level 2

ultrasound to

> look for the physical characteristics of DS, but there were none,

just a

> little fluid in the brain, and he was small for gestational age.

They did an amnio

> just to be sure. I was told a few weeks later that he did not have

DS, but

> had " extra material of an unknown origin " on his 18th chromosome.

We were told

> that he would probably die before birth, or shortly after. We had

a level 2

> ultrasound every month to watch for the physical problems we were

assured

> would show up, heart problems, kidney problems, et. But nothing

ever did, he was

> a perfect baby, just small. Still, they gave us no hope for him.

When he was

> born, he was a week late, and he weighed 6lbs, 14 oz and was 19 3/4

in long.

> Small for gestational age, but he had IUGR, so we expected it. He

was

> gagging and spitting up from the very beginning. He breast fed,

but seemed not to

> have any appetite, even after the first few days. When he was

examined, they

> told us that he had little muscle tone, a high arch in his mouth,

and a

> hypospadius, and he failed all of his hearing tests.

> It was confirmed that he is profoundly deaf. But, we were over the

moon,

> except for a few cosmetic problems, he was okay, despite

everything we were

> told. My husband is also deaf, so we were expecting him to be

too.

> But over the next few weeks, he did not gain any weight in between

his Drs.

> apts, and fell from the 5th percentile in high and weight to not

even on the

> chart. His head stayed in the 10th percentile though. I was

concerned because

> he did not eat as much as my other two had, and since I was

breastfeeding, it

> was pretty noticeable how full my breasts were even after feeding

him. He

> would throw up all the time, and gag as soon as he started to eat.

He was also

> very irritable, he would curl up in a ball and scream, vomit, et.

after his

> feedings, so I started to suspect that he might be allergic to the

milk in my

> diet. To see if this might be the case, I gave him a bottle of soy

formula. He

> sucked it down, and wasn't fussy, didn't appear to have a stomach

ache. He

> threw it all up, (don't think anyone but you guys really know what

it means when

> you say your baby projectile vomits six or seven times a day) but

that was

> normal by then. I stopped eating any dairy and gave him soy while

I pumped and

> dumped for a day or so to get rid of what might be left, but when I

tried to

> nurse after the bottle, he wanted nothing to do with me. He is

still so

> allergic to -any- milk or milk products. He went 6 months with no

weight gain at

> all, and at 8 months he only weighed 12 lbs. He is now 14 months,

and he

> only weighs 13lbs. The drs. just kept shaking their heads and

telling us he was

> " just small. " We took him to a geneticist to see what they could

say, and

> they never mentioned RSS. They did tell me to add a 5th scoop of

formula to his

> bottles to bring it up to 24 cal. and expected that to result in

some weight

> gain, but no go. He can hold up his head, and roll over, push up

on his arms,

> but still can't sit up, crawl, walk...he looks like he is only a

month or two

> old, but he has " older " mannerisms, if you know what I mean. He

still wears

> newborn diapers and 0-3 month old clothes. He does take Zantac for

reflux,

> which seems to help a little.

> From talking to this Mom, it really sounded like Xavier had RSS, so

I looked

> it up on the internet and found that he had about 97% of

the " universal "

> traits of RSS, and about 50% of the " rarer " traits like hypospadius

and high arch.

> He is proportionate though, no asymmetry. I am going to be taking

him to

> another geneticist in Arizona as soon as I can for a real

diagnosis. I'm going

> to bring everything I can find out about this with me, as it seems

a lot of

> Drs. aren't familiar with it. Anyone can look at this list of

common symptoms

> and see how many of these he has.

> I have been working in health care (Dialysis) since I was 20 years

old, so

> all this talk about hypoglycemia, ketoacidosis, et is right up my

alley..I will

> try and help to answer some questions on it if I can, as I worked

with people

> who have these problems, (along with kidney disease, diabetes, et)

and have

> gleaned quite a bit of info along the way! I did not know that

this was even an

> issue with RSS kids until a day or so ago, and am now realizing

that Xavier

> may have this problem, with the extreme fussiness, and not sleeping

through the

> night. It's frustrating to be where I live, (Nevada) because there

is ONE

> geneticist, and her waiting list is a year long. The early

intervention here

> has a waiting list almost as bad, even though it is against the

law. I have

> been waiting for 3 months, since we moved here to get him into OT,

PT, and ST. I

> am going to have to go out of state to Arizona for any drs that he

is going

> to need. I really don't mind that, as we are from AZ originally

and all of our

> family and friends are there. I do have problems with drs. also,

as their

> first instinct is " the patients mother is always an overprotective

worry wart.. "

> and I know they don't like being told something they don't know.

> Anyway, long and winded, but I am so glad to have found this place!

> Hess

> Xavier, RSS(?) 14 months, 13lbs

> Emerald, 5 (non RSS)

> Wyatt, 4 (non RSS)

>

>

>