new member (long)

[Guest guest]

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)