New Here

[Guest guest]

Thanks, n. I'm actually glad Quest is better because I can just go down the

street and, as I said earlier, they are covered by my insurance. Who knows, my

doc might only be willing to do the sweat test. If it came back positive, I

wonder if they'd bother to do anything, anyway.

Thanks so much, n

Love,

Jill

Re: new here

Welcome ,

With a sweat test of 80 and all the symptoms I would imagine your son

does have CF. Now they can test for over 1000 mutations, this was not possible

until recent years. A company called Ambry Genetics does it, also s Hopkins

and I believe Toronto General, depending on where you live. My daughter

was diagnosed at the age of 8 months by sweat test and later was genetically

tested, first they only found one mutation and it has only been since 2002 that

Ambry found her other rare mutation. So I think having another genetic test

would be a good idea, just make sure they test for over 1000 mutations. How old

are your kids? How is their health?

love,

M

mom of Nick age 21 nocf and age 20 wcf

Orange County CA

[Guest guest]

So far as I can determine, not all Quest Diagnostics Laboratories do

this test--primarily the one in San Capistrano, where the mission

is, is the only one; I had my blood send in neat little refrigerated con

tainer; the center arranged it. All I had to do was be poked at the cf

center. Love, n

Re: new here

Welcome ,

With a sweat test of 80 and all the symptoms I would imagine your son

does have CF. Now they can test for over 1000 mutations, this was not possible

until recent years. A company called Ambry Genetics does it, also s Hopkins

and I believe Toronto General, depending on where you live. My daughter

was diagnosed at the age of 8 months by sweat test and later was genetically

tested, first they only found one mutation and it has only been since 2002 that

Ambry found her other rare mutation. So I think having another genetic test

would be a good idea, just make sure they test for over 1000 mutations. How old

are your kids? How is their health?

love,

M

mom of Nick age 21 nocf and age 20 wcf

Orange County CA

[Guest guest]

,

Welcome to the group. How old are your children? I have a 2 year

old grandaughter with cf.

Gale

> Hello to everyone,

> i am new here and have a few questions.

> I have three chldren, two I believe are affected. My son who has

> chronic sinusitis, lung infections, malabsorption ( takes Creon

20 )

> just had a sweat chloride test, the doctor called and said it was

> positive for CF with a level of 80.

> My question is this, he wants him to have the genetic testing, can

> you have a positive sweat test and a diagnosis of CF but not have

any

> of the genes for CF.

> I read somewhere that they can only test for 25 of the 1,000

> mutations.

> The reason I ask is I was told my kids had CF when they were

> toddlers, then the geneticist dod gene testing on my daughter and

the

> report said she had none of the known mutations so we were told no

it

> is not CF. However at the bottom of the report it said not all

genes

> can be tested for and this test cannot rule out CF in a small

> percentage of patients.

> Does anyone else have a positive sweat chloride but no known

mutation?

> Sorry for so many questions...

>

[Guest guest]

Hello ,

I hope you can find the answers you are looking for. I know we have a

couple of other families from New Zealand that I am sure could be a

great source for you. I would say that you 1st need to see a

geneticist or endochrinologist. My son was diagnosed at 8 months

weighing in at 11 pounds! He is now 9 years old, weighs 57 pounds and

is 4 foot 1 inch! He is proud of how he has grown! You can also get a

lot of information from the Magic Foundation at

www.magicfoundation.org. I hope this helps you and if you have any

questions feel free to ask! (Does your little guy eat well, mine did

at that age, but most don't) Hope this finds you all well,

Blessings,

Carmen Snyder, mom to Storm age 9y 10m, 57 pounds, 49 inches, RSS. and

a host of other children

[Guest guest]

Hi ,

Welcome to our group.

There is at least one other person on this list from NZ. Hopefully they

will see your message and contact you. Also, I know it is a ways, but

there are several from Austrialia.

May I ask a few questions? Please feel free to answer or not answer as

you wish.

Have you been to a geneticist or a pediactric endocrinologist? If your

son does have RSS, this is a genetic growth disorder and is usually

diagnosed by a geneticist. However, we have had many members who went

to a geneticist, were told no RSS, only to be told by a ped. endo. that

yes the child does have RSS. So it is not an easy thing to diagnose and

there is no test to confirm or deny the existence of RSS. About 10% of

the people with RSS do have 2 #7 chromosomes from their mother

(UniParental Disomy #7 or UPD #7) and none from the father. This is

usually confirmed by a blood test by the geneticist. Otherwise,

everyone else is going with a best guess type of diagnosis. Everything

has been ruled out and it is the only explaination left.

As far as I know in my limited knowledge of medicine there is no

hololistic treatments. The 2 medications that are often given are

periactin and growth hormone. Periactin (cyproheptadine) is a common

antihistamine that is used as an appetite stimulant. Growth hormone is

a synthetic copy of the growth hormones our bodies produce naturally.

It is still too early to say if your son will need these medications.

How big was your son when he was born? How big is he now? How is his

appetite?

If he starts to not eat well, you may have to try and boost his caloic

intake in the food he does consume. If he is eating solids already, you

could add butter or oil to somethings. You can also add kayro or maple

syrup to some of his meals also. Cheese is another good food that can

be mixed in with his foods to help boost calories.

Last, assuming, your son has no other health problems, RSS will not

prevent him from living a normal life.

I hope this helps and please feel free to ask questions. There maybe

some delays in getting an answer, because many are going to the Magic

Foundation Convention and they are busy making last minute arrangements.

I hope this helps.

Ken M

> Hi!

> Finally I can begin to find some answers. I was browsing the net

> tonight and stumbled on RSS. So many of his characteristics seem to

> match and some of the photos could be my wee guy's twin. Thank you so

> much for sharing your photos. At least now I have something to start

> with and can try and get a referral. I am in New Zealand and my wee

> guy is 9mths old. I 'm feeling relieved that I have found some babies

> who are like him and totally overwelmed by it all at the same time.

Is

> there anything special I need to be doing with him? I notice some of

> you talking about calories and drugs though have only skimmed here.

We

> are a family who are very holistic in our approach to health. He is

> breastfed and on solids. I don't know how long it will take to get

> referred to the right people. Will make some phone calls tomorrow.

Any

> support or info you can give me would be great. email me on

> hegamo@x... Cajun is our 8th baby and so different from the

> others. Thanks ~~

[Guest guest]

Hi ,

Welcome to this wonderful family. You found a great

place to learn and share your experiences. Make sure

to check out the Magic Foundation website.

My daughter is now 5 1/2 and weighs 31.7 pounds

and is about 38 1/2 inches. She was diagnosed at age

3 3/4 with RSS by a geneticist, however, The pediatric

endocrinologist who specializes in RSS says no.

Either way the treatment is the same, however, just

not sure of why she is not growing.

B

5 1/2 and Kelli 2 3/4

--- brody1212 wrote:

> Hi!

> Finally I can begin to find some answers. I was

> browsing the net

> tonight and stumbled on RSS. So many of his

> characteristics seem to

> match and some of the photos could be my wee guy's

> twin. Thank you so

> much for sharing your photos. At least now I have

> something to start

> with and can try and get a referral. I am in New

> Zealand and my wee

> guy is 9mths old. I 'm feeling relieved that I have

> found some babies

> who are like him and totally overwelmed by it all at

> the same time. Is

> there anything special I need to be doing with him?

> I notice some of

> you talking about calories and drugs though have

> only skimmed here. We

> are a family who are very holistic in our approach

> to health. He is

> breastfed and on solids. I don't know how long it

> will take to get

> referred to the right people. Will make some phone

> calls tomorrow. Any

> support or info you can give me would be great.

> email me on

> hegamo@... Cajun is our 8th baby and so

> different from the

> others. Thanks ~~

>

>

>

__________________________________________________

[Guest guest]

dear amy what a nice surprise to hear from you. very few responses to my

listing. im glad to meet you. anytime i get a chance i will sit down and write

you a message. love grace

[Guest guest]

Hi everyone. My name is Becky and my daughter, Devan (14 weeks old) is

in the process of being diagnosed with RSS. We are going to see a peds

geneticist on Aug. 31st. Her pediatrician is who is sending her. Oddly

enough, there is another child in the practice that has RSS, so he is

well informed about RSS.

I have been reading the postings for the past couple of weeks and I

feel it is time to introduce ourselves. Our story goes like this....

At 18 weeks, my AFP came back with Trisomy 18 for the baby. After I

was sent to a specialist they ruled that out, but found a bright spot

on the heart in the ultrasound. Come back is 4 weeks. At 22 wks

gestation, heart looks great, but the abdomen is small. Come back in 2

weeks. At 24 weeks, abdomem is still small. Come back in two more

weeks. At 26 weeks, arms and legs are slowing down in growth, but the

head is being spared. By 30 weeks they labeled the baby as IUGR. By 36

1/2 weeks, after seeing the dr. twice a week, every week, they decided

Devan was " better out than in " . And so I was induced. Devan Caitrin

was born at 4lbs 9oz, 16 3/4in long. Devan spent 5 weeks in the NICU

labeled as failure to thrive because she would NOT take a bottle, or

nurse well. Just before she was 5 weeks old she underwent surgery for

the G-Tube. She continues to be fed through the G-tube with a major

aversion to any bottle. We have spent an enormous amount of money on

every bottle made; just trying to get her to take one. She will

breastfeed, but how do you measure that?

She weighs 7 lbs as of yesterday, which we are very happy with,

considering she had been six pounds for 1 1/2 months.

I have found this support group to be very infomative and very

encouraging as well. I am really happy I found it.

We are from the Albany, NY area if there is anyone out there who is

also, it would be great to talk to you about what local dr.s you have

gone too.

Becky

Mom to Devan, 14 weeks - possible RSS, and Tyler age 4 1/2 no RSS

[Guest guest]

Becky,

Let me start by saying welcome. My name is Chrissy and my daughter Madison

is turning 4 in three weeks and she has RSS is currently weighs 20lbs 4 oz. She

is very skinny!!

Our story is pretty much the same my Triple screen said Triasemy 18 also.

The only difference was my doctor kept dissmissing it saying my due date was

wrong Maddy was bron 38 weeks vis repeat c-section and weighed 3lbs 15oz 16

3/4inch long. Our local doctor's kept force feeding her via NG tube untill we

finally met Dr. Harbison ( she's at Mount Siani in Manhattan NY ) and she

turned our world around. I know you are concerned about your baby not taking

the

bottle. Madison NEVER took a bottle her sucking reflex wasn't strong enough.

We live in Philadelphia Pa and our doctor's here aren't familiar enough with

RSS and keep messing things up. You really need to find yourself an

endocrinoloigst, Once your daughter has her diagnoses. Dr. Harbison specializes

in

RSS. so there is an idea for you. I have posted some pictures of my daughter

under convention 05 take a look and i look foward to talking toi you again.

P.S if you need to speak to someone personally email me directly at

_Chrissynlou@..._ (mailto:Chrissynlou@...)

Chrissy

Mom to..........

Louis 6

Madison 3 1/2

Shane 1 1/2

10 mons

[Guest guest]

Hi Becky,

First of all, you have come to the right place. Everyone here is

really great. Most people have just (or are still) come home from the

annual Magic Foundation convention.

We live in Westchester County, a little over 2 hours from Albany. As

for local doctors, most people see Dr H (Dr Harbison) in NYC. She is

the foremost expert on RSS in this country. We see her every three

months for our son .

BTW, my daughter is (called Becca) and my sister-in-law is

Rebekah (only called Rebekah).

Judith, Steve, (RSS) and (non RSS) 5 year old twins

[Guest guest]

Hi Becky and welcome to this great family. I'm sure

by know if you found this group and reading the posts

you have found the Magic Foundation. My daughter

was always small and at 9 months diagnosed

failure to thrive and at 18 months after every month

of weigh-ins I was told by her ped that ok she will be

small. was being seen by a cardiologist at age

3 1/2 for a hole in heart who sent her to a geneticist

for a consult prior to open heart surgery in November

of 2003 (she was 3 3/4). The geneticist diagnosed RSS

and a local endo (I live in northern NJ), confirmed

the RSS a few months later. A year later we saw Dr. H

who said she is not RSS or SGA but growth failure -

unexplained. So here we are with the same protocol.

We have seen Dr. H twice and she was not happy with

's height gain in a three month period so we are

about to do more formal blood work in August.

is currently 5 1/2 and weighs 31.7 pounds and is

approixmately 38/39 inches.

I breastfed exclusively (meaning no formula)

for nine months. She was taking bottles of breast

milk while I was at work and she was taking about 2 oz

every 2 hours until she was at least 4 months old. At

9 months I started whole milk during the day and I

would breastfeed her from the moment I got home from

work until I went to work. That's when she fell from

5% on the chart for weights to off the chart. She was

also colicky from like 3 weeks old until 3 months old.

B

5 1/2 and Kelli 3

B

5 1/2 and Kelli 3

--- rebecca12054 wrote:

> Hi everyone. My name is Becky and my daughter, Devan

> (14 weeks old) is

> in the process of being diagnosed with RSS. We are

> going to see a peds

> geneticist on Aug. 31st. Her pediatrician is who is

> sending her. Oddly

> enough, there is another child in the practice that

> has RSS, so he is

> well informed about RSS.

> I have been reading the postings for the past couple

> of weeks and I

> feel it is time to introduce ourselves. Our story

> goes like this....

> At 18 weeks, my AFP came back with Trisomy 18 for

> the baby. After I

> was sent to a specialist they ruled that out, but

> found a bright spot

> on the heart in the ultrasound. Come back is 4

> weeks. At 22 wks

> gestation, heart looks great, but the abdomen is

> small. Come back in 2

> weeks. At 24 weeks, abdomem is still small. Come

> back in two more

> weeks. At 26 weeks, arms and legs are slowing down

> in growth, but the

> head is being spared. By 30 weeks they labeled the

> baby as IUGR. By 36

> 1/2 weeks, after seeing the dr. twice a week, every

> week, they decided

> Devan was " better out than in " . And so I was

> induced. Devan Caitrin

> was born at 4lbs 9oz, 16 3/4in long. Devan spent 5

> weeks in the NICU

> labeled as failure to thrive because she would NOT

> take a bottle, or

> nurse well. Just before she was 5 weeks old she

> underwent surgery for

> the G-Tube. She continues to be fed through the

> G-tube with a major

> aversion to any bottle. We have spent an enormous

> amount of money on

> every bottle made; just trying to get her to take

> one. She will

> breastfeed, but how do you measure that?

> She weighs 7 lbs as of yesterday, which we are very

> happy with,

> considering she had been six pounds for 1 1/2

> months.

> I have found this support group to be very

> infomative and very

> encouraging as well. I am really happy I found it.

> We are from the Albany, NY area if there is anyone

> out there who is

> also, it would be great to talk to you about what

> local dr.s you have

> gone too.

> Becky

> Mom to Devan, 14 weeks - possible RSS, and Tyler age

> 4 1/2 no RSS

>

>

>

>

____________________________________________________

Start your day with Yahoo! - make it your home page

http://www.yahoo.com/r/hs

[Guest guest]

hi becky!!

welcome to the group!! i am from NJ and have a 4yr old son with

rss. he doesnt have a g-tube, i breast fed as well with him. my dr

had me do it every 2 hours around the clock until he was about 5

months then it was every 3 hours. i would also have to pump it and

try to get any additional breast milk in him with a premie nipple or

an eye dropper (nipples i got from our hospital as per our ped). we

took him 2x a week from weight checks until he was 2 months old then

it was once every week until he was 5 months. at 3 months his

weight was 8lbs 8 1/2oz he was 5lbs 10oz at birth. he is now

currently 29lbs at 4yrs. he is on periactin which is an appitite

stimulant and on growth hormone which he is doing very well on.

check out the MAGIC FOUNDATIONS website www.magicfoundation.org

they are a org. that provides support and education to families and

drs. of children with growth disorders. many of us have just

returned from their annual convention which is just an awesome

experience!!

jodie c.

[Guest guest]

Becky - Believe it or not, the original volunteer director of our

RSS division of the MAGIC Foundation lives nearby Albany in Saratoga

Springs, NY!!! Her youngest daughter is now in high school, but she

is a wealth of information. I bet she would be happy to talk to

you. Write me privately at magicrss@..., and I can give

you her phone number.

Your prenatal experience pretty much mimics that of everyone else!

Jenn (Mom to , RSS, 9 1/2 yrs old, and Tyler, 8 1/2, non RSS)

> Hi everyone. My name is Becky and my daughter, Devan (14 weeks

old) is

> in the process of being diagnosed with RSS. We are going to see a

peds

> geneticist on Aug. 31st. Her pediatrician is who is sending her.

Oddly

> enough, there is another child in the practice that has RSS, so he

is

> well informed about RSS.

> I have been reading the postings for the past couple of weeks and

I

> feel it is time to introduce ourselves. Our story goes like

this....

> At 18 weeks, my AFP came back with Trisomy 18 for the baby. After

I

> was sent to a specialist they ruled that out, but found a bright

spot

> on the heart in the ultrasound. Come back is 4 weeks. At 22 wks

> gestation, heart looks great, but the abdomen is small. Come back

in 2

> weeks. At 24 weeks, abdomem is still small. Come back in two more

> weeks. At 26 weeks, arms and legs are slowing down in growth, but

the

> head is being spared. By 30 weeks they labeled the baby as IUGR.

By 36

> 1/2 weeks, after seeing the dr. twice a week, every week, they

decided

> Devan was " better out than in " . And so I was induced. Devan

Caitrin

> was born at 4lbs 9oz, 16 3/4in long. Devan spent 5 weeks in the

NICU

> labeled as failure to thrive because she would NOT take a bottle,

or

> nurse well. Just before she was 5 weeks old she underwent surgery

for

> the G-Tube. She continues to be fed through the G-tube with a

major

> aversion to any bottle. We have spent an enormous amount of money

on

> every bottle made; just trying to get her to take one. She will

> breastfeed, but how do you measure that?

> She weighs 7 lbs as of yesterday, which we are very happy with,

> considering she had been six pounds for 1 1/2 months.

> I have found this support group to be very infomative and very

> encouraging as well. I am really happy I found it.

> We are from the Albany, NY area if there is anyone out there who

is

> also, it would be great to talk to you about what local dr.s you

have

> gone too.

> Becky

> Mom to Devan, 14 weeks - possible RSS, and Tyler age 4 1/2 no RSS