Thank you for the reply

[Guest guest]

Thank you so much to everyone who replied to my email regarding my

son with RSS. I hope everyone had a good Thanksgiving. I would like

to continue now about my experience with RSS and hopefully this can

help others.

If you already know this, please disregard, but I just found out why

RSS occurs. I became pregnant last November and experiened several

problems - this time without the help of fertility. I began bleeding

in my 9th week and went to a doctor who specializes in high-risk

pregancy for gestantional diabetes, rare genetic disorders etc. and

has high-tech scanning equipment. It turned out I had a bleeding

cyst. This did raise a question about if I would have another RSS

child so I was sent to a geneticist.

She explained to me in great detail how RSS occurs - the easiest way

to explain it would be that within our DNA, chromosome 7 needs to

have a male and female gene when making up your DNA and in the case

of RSS, same sex genes are the reason for a birth occuring with RSS.

Chromosome 21 is the same way which is why some babies are born with

Down Syndrome. Although you can do an amnio for Down Syndrome, you

cannot find out about RSS until the baby is born when they can draw

blood and do a UPD7 test to confirm for RSS.

Along with the help of my specialist, he could also use the scan to

look for a curved spine and triangular face features on the screen

which would be signs of RSS. It was amazing how both doctors came

together to help me. I gave birth to a healthy baby girl in July.

I thank all of you who read my first emailed and replied to me. I am

so grateful a group like this exists.

[Guest guest]

,

I am sorry to tell you that you are wrong. Only in 10% of RSS cases

is there uniparental disomy on chromosome 7 (two copies from one

parent and none from the other). In the other 90% of cases, it is a

clinical diagnosis only and the child has the correct copies of

chromosome 7. If your doctor thinks that only in the case of

uniparental disomy is there RSS, he needs to go back to school.

Judith, Steve, (RSS) and (non RSS) 4 3/4 year old twins

>

> Thank you so much to everyone who replied to my email regarding my

> son with RSS. I hope everyone had a good Thanksgiving. I would

like

> to continue now about my experience with RSS and hopefully this

can

> help others.

>

> If you already know this, please disregard, but I just found out

why

> RSS occurs. I became pregnant last November and experiened several

> problems - this time without the help of fertility. I began

bleeding

> in my 9th week and went to a doctor who specializes in high-risk

> pregancy for gestantional diabetes, rare genetic disorders etc.

and

> has high-tech scanning equipment. It turned out I had a bleeding

> cyst. This did raise a question about if I would have another RSS

> child so I was sent to a geneticist.

>

> She explained to me in great detail how RSS occurs - the easiest

way

> to explain it would be that within our DNA, chromosome 7 needs to

> have a male and female gene when making up your DNA and in the

case

> of RSS, same sex genes are the reason for a birth occuring with

RSS.

> Chromosome 21 is the same way which is why some babies are born

with

> Down Syndrome. Although you can do an amnio for Down Syndrome, you

> cannot find out about RSS until the baby is born when they can

draw

> blood and do a UPD7 test to confirm for RSS.

>

> Along with the help of my specialist, he could also use the scan

to

> look for a curved spine and triangular face features on the screen

> which would be signs of RSS. It was amazing how both doctors came

> together to help me. I gave birth to a healthy baby girl in July.

>

> I thank all of you who read my first emailed and replied to me. I

am

> so grateful a group like this exists.

>

>

[Guest guest]

Hi Judith,

You mentioned that 10% of RSS cases are the result of UPD #7. I too

have read that numerous times in the literature. However, I suspect

that even that number is high. I say that because there are 459

members on this list. I have only heard of 4 or 5 that have RSS

children with UPD #7. About a year ago I did a poll and only 2 or 3

reported UPD#7. So in this sample population of 450+ there should be

45 RSS child who are UPD #7.

This leads has me wondering why so few on this list are diagnosed

with RSS from UPD#7. I think the biggest reason could be that the

literature says that RSS resulting from UPD#7 is realtively mild

compared to RSS resulting from other causes. So it maybe that these

families have not needed to seek out support from a list like ours.

Anyway, just something I have been curious about for awhile.

Ken M

> >

> > Thank you so much to everyone who replied to my email regarding

my

> > son with RSS. I hope everyone had a good Thanksgiving. I would

> like

> > to continue now about my experience with RSS and hopefully this

> can

> > help others.

> >

> > If you already know this, please disregard, but I just found out

> why

> > RSS occurs. I became pregnant last November and experiened

several

> > problems - this time without the help of fertility. I began

> bleeding

> > in my 9th week and went to a doctor who specializes in high-risk

> > pregancy for gestantional diabetes, rare genetic disorders etc.

> and

> > has high-tech scanning equipment. It turned out I had a bleeding

> > cyst. This did raise a question about if I would have another RSS

> > child so I was sent to a geneticist.

> >

> > She explained to me in great detail how RSS occurs - the easiest

> way

> > to explain it would be that within our DNA, chromosome 7 needs to

> > have a male and female gene when making up your DNA and in the

> case

> > of RSS, same sex genes are the reason for a birth occuring with

> RSS.

> > Chromosome 21 is the same way which is why some babies are born

> with

> > Down Syndrome. Although you can do an amnio for Down Syndrome,

you

> > cannot find out about RSS until the baby is born when they can

> draw

> > blood and do a UPD7 test to confirm for RSS.

> >

> > Along with the help of my specialist, he could also use the scan

> to

> > look for a curved spine and triangular face features on the

screen

> > which would be signs of RSS. It was amazing how both doctors came

> > together to help me. I gave birth to a healthy baby girl in July.

> >

> > I thank all of you who read my first emailed and replied to me. I

> am

> > so grateful a group like this exists.

> >

> >

[Guest guest]

It wasn't my doctor, but a geneticist who explained it to me. As

with all rare disorders, not all the infomration is 100% acurate all

the time. It is for reasons like this - the discrepancy between your

figures and the one of a geneticist is why there needs to be more

research done. I am trying to work on some fundraisers within the

NYC area. I have been spreading the word as much as I can. My

husband and I are thinking of hosting a fundraising dinner in the

city and would love some input on how to get people to attend.

Thank you.

- mother of Colin- 4, RSS and Gillian 4 months non-RSS

> >

> > Thank you so much to everyone who replied to my email regarding

my

> > son with RSS. I hope everyone had a good Thanksgiving. I would

> like

> > to continue now about my experience with RSS and hopefully this

> can

> > help others.

> >

> > If you already know this, please disregard, but I just found out

> why

> > RSS occurs. I became pregnant last November and experiened

several

> > problems - this time without the help of fertility. I began

> bleeding

> > in my 9th week and went to a doctor who specializes in high-risk

> > pregancy for gestantional diabetes, rare genetic disorders etc.

> and

> > has high-tech scanning equipment. It turned out I had a bleeding

> > cyst. This did raise a question about if I would have another

RSS

> > child so I was sent to a geneticist.

> >

> > She explained to me in great detail how RSS occurs - the easiest

> way

> > to explain it would be that within our DNA, chromosome 7 needs

to

> > have a male and female gene when making up your DNA and in the

> case

> > of RSS, same sex genes are the reason for a birth occuring with

> RSS.

> > Chromosome 21 is the same way which is why some babies are born

> with

> > Down Syndrome. Although you can do an amnio for Down Syndrome,

you

> > cannot find out about RSS until the baby is born when they can

> draw

> > blood and do a UPD7 test to confirm for RSS.

> >

> > Along with the help of my specialist, he could also use the scan

> to

> > look for a curved spine and triangular face features on the

screen

> > which would be signs of RSS. It was amazing how both doctors

came

> > together to help me. I gave birth to a healthy baby girl in July.

> >

> > I thank all of you who read my first emailed and replied to me.

I

> am

> > so grateful a group like this exists.

> >

> >

[Guest guest]

The test was not available to my child because by the time she was diagnosed her

father was deceased.

Re: Thank you for the reply

Hi Judith,

You mentioned that 10% of RSS cases are the result of UPD #7. I too

have read that numerous times in the literature. However, I suspect

that even that number is high. I say that because there are 459

members on this list. I have only heard of 4 or 5 that have RSS

children with UPD #7. About a year ago I did a poll and only 2 or 3

reported UPD#7. So in this sample population of 450+ there should be

45 RSS child who are UPD #7.

This leads has me wondering why so few on this list are diagnosed

with RSS from UPD#7. I think the biggest reason could be that the

literature says that RSS resulting from UPD#7 is realtively mild

compared to RSS resulting from other causes. So it maybe that these

families have not needed to seek out support from a list like ours.

Anyway, just something I have been curious about for awhile.

Ken M

> >

> > Thank you so much to everyone who replied to my email regarding

my

> > son with RSS. I hope everyone had a good Thanksgiving. I would

> like

> > to continue now about my experience with RSS and hopefully this

> can

> > help others.

> >

> > If you already know this, please disregard, but I just found out

> why

> > RSS occurs. I became pregnant last November and experiened

several

> > problems - this time without the help of fertility. I began

> bleeding

> > in my 9th week and went to a doctor who specializes in high-risk

> > pregancy for gestantional diabetes, rare genetic disorders etc.

> and

> > has high-tech scanning equipment. It turned out I had a bleeding

> > cyst. This did raise a question about if I would have another RSS

> > child so I was sent to a geneticist.

> >

> > She explained to me in great detail how RSS occurs - the easiest

> way

> > to explain it would be that within our DNA, chromosome 7 needs to

> > have a male and female gene when making up your DNA and in the

> case

> > of RSS, same sex genes are the reason for a birth occuring with

> RSS.

> > Chromosome 21 is the same way which is why some babies are born

> with

> > Down Syndrome. Although you can do an amnio for Down Syndrome,

you

> > cannot find out about RSS until the baby is born when they can

> draw

> > blood and do a UPD7 test to confirm for RSS.

> >

> > Along with the help of my specialist, he could also use the scan

> to

> > look for a curved spine and triangular face features on the

screen

> > which would be signs of RSS. It was amazing how both doctors came

> > together to help me. I gave birth to a healthy baby girl in July.

> >

> > I thank all of you who read my first emailed and replied to me. I

> am

> > so grateful a group like this exists.

> >

> >

[Guest guest]

Hi Ken

I too have not done the test. When was diagnosed by the geneticist is

was only about 5 days before her open heart surgery. We had just done her blood

work for her surgery. I had planned to mention it while she was in the hospital

but was totally consumed with getting her healed from the surgery. Also, at the

time we got the diagnosis and the geneticist said it just means that she will be

small and her quality of life will not be effected, she will live a happy and

normal healthy life. I replied so you are telling me I have a gymnast and not a

basketball player. With having that in my head I didn't find any worry in

getting the test done. She also told me that it is not 100% accurate. I could

have easily had the blood drawn while she was in the hospital but didn't find

concern for it.

Would it make a difference if I did or do the test?

Thanks

B

(5 in 15 days!!!) RSS and Kelli 2 Non RSS

Christensen wrote:

The test was not available to my child because by the time she was diagnosed her

father was deceased.

Re: Thank you for the reply

Hi Judith,

You mentioned that 10% of RSS cases are the result of UPD #7. I too

have read that numerous times in the literature. However, I suspect

that even that number is high. I say that because there are 459

members on this list. I have only heard of 4 or 5 that have RSS

children with UPD #7. About a year ago I did a poll and only 2 or 3

reported UPD#7. So in this sample population of 450+ there should be

45 RSS child who are UPD #7.

This leads has me wondering why so few on this list are diagnosed

with RSS from UPD#7. I think the biggest reason could be that the

literature says that RSS resulting from UPD#7 is realtively mild

compared to RSS resulting from other causes. So it maybe that these

families have not needed to seek out support from a list like ours.

Anyway, just something I have been curious about for awhile.

Ken M

> >

> > Thank you so much to everyone who replied to my email regarding

my

> > son with RSS. I hope everyone had a good Thanksgiving. I would

> like

> > to continue now about my experience with RSS and hopefully this

> can

> > help others.

> >

> > If you already know this, please disregard, but I just found out

> why

> > RSS occurs. I became pregnant last November and experiened

several

> > problems - this time without the help of fertility. I began

> bleeding

> > in my 9th week and went to a doctor who specializes in high-risk

> > pregancy for gestantional diabetes, rare genetic disorders etc.

> and

> > has high-tech scanning equipment. It turned out I had a bleeding

> > cyst. This did raise a question about if I would have another RSS

> > child so I was sent to a geneticist.

> >

> > She explained to me in great detail how RSS occurs - the easiest

> way

> > to explain it would be that within our DNA, chromosome 7 needs to

> > have a male and female gene when making up your DNA and in the

> case

> > of RSS, same sex genes are the reason for a birth occuring with

> RSS.

> > Chromosome 21 is the same way which is why some babies are born

> with

> > Down Syndrome. Although you can do an amnio for Down Syndrome,

you

> > cannot find out about RSS until the baby is born when they can

> draw

> > blood and do a UPD7 test to confirm for RSS.

> >

> > Along with the help of my specialist, he could also use the scan

> to

> > look for a curved spine and triangular face features on the

screen

> > which would be signs of RSS. It was amazing how both doctors came

> > together to help me. I gave birth to a healthy baby girl in July.

> >

> > I thank all of you who read my first emailed and replied to me. I

> am

> > so grateful a group like this exists.

> >

> >