New member (long)

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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)