Re: What was the hospital stay for your child immediately following bir...

November 27, 2006

My son , who is also " 50% " , went home 16 hours after birth.

Really, they messed up.... because had not had a bowel movement.

Turns out, my son also had a bowel disease called Hirschsprung's Disease (there

is a correlation between it and down's... but small, maybe 2% chance), and he

couldn't have a bowel movement at all. I brought him back to the hospital

the next morning, vomiting bile, and he was admitted...

But, he was not hospitalized at all at birth due to 'mosaic down

syndrome'.....actually, that wasn't even diagnosed until he was 16 months old!

Angel

Mom to , 13, MDS/HD

November 27, 2006

was in the NICU for 2 1/2 weeks due to her ASD and low oxygen levels.

She was on oxygen at home for an additional two months. It was during her NICU

stay that they consulted genetics due to low muscle tone and subtle features.

Down Syndrome was never brought up as a possibility. I also had a negative

amnio during pregnancy so they were not too worried that anything would show up

on testing. and (14 months old MTDS)

November 27, 2006

...

Maybe I'm playing devil's advocate a little here....but.... if they'd done

NO testing of any kind, when they were concerned about " something " .... would

you have been happier?

I guess I'm just thinking, so many kids...well patients in general...just

get kinda rushed through, and sometimes you have to yell, kick and scream to get

anyone to hear you when you say something is wrong. Maybe it was overkill,

but it seems like the hospital was trying to run every test they could to

guarantee he was ok??? SOMETHING must have had them concerned....

Angel

Mom to

November 27, 2006

thanks for the input. I suppose I am asking because the hospital kept my son

for 19 days running test after test. All tests had negative results, meaning

there was nothing at all found wrong with him.

Originally they said 100% Trisomy 21. Thank God for the genticist I found

and he redid 500 cells versus 20 cells (typically done). Wow, what a

difference between 100% and 50%. My guess is that a repeat of this same test

in 3 more years will show even a lesser percentage (just seeing how my other

children have grown and developed). <Without a karyotype, no one is aware

that any of us have Down Syndrome of any type because the features change as

we grow. Even my sydney line from birth changed over time and it is not

present now.>

The only physical features my son had were slight upslanting eyes and pectus

excavatum (both inherited traits). As far as low muscle tone or low set ears

or feeding problems, there were none.

I have been asked why he stayed in the hospital so long. After reviewing his

medical file (what I was able to obtain), he had discharge orders for the

second day of life, yet they kept him 17 more days doing test after test. I

was trying to determine whether or not this is normal and my guess is that

it is not normal at all.

He was born at home a little early (if 38-42 weeks is term, then he was one

week early). He had trouble breathing due to his pectus excavatum, but the

ambulance resolved that and then transported him to a nearby hospital to be

checked. I just thought that was excessive checking, and I was trying to get

a sense for how long typically the stay for testing normally is across the

country.

I find it so disheartening that with even a blood test that most of do not

know whether our child has MDS or Trisomy 21. Although every child is

different, my guess is that the fewer affected cells, the less likely there

is harm to the body. (I guess that all depends on where the cells are

located?)

We are working on a mandatory law to test a minimum of 500 cells rather than

20 cells in order to get a more accurate diagnosis. Some people (I have

learned) think it does not matter whether the diagnosis is Trisomy 21 or

Mosaic Down Syndrome (or any other type for that matter); however, I must

beg to differ that there must be some difference or " they " would not have

come up with the various types in the first place.

I am very fortunate to have all of my children virtually clear of health

issues. Sure, we each are very prone to respiratory illnesses like the

common cold or basic sinus allergies, but all my children (except Charlie

Hart, the male) have perfect vision and the doctor said they will likely

never need glasses, which is good. Additionally, none of them have heart

problems and get a full clean bill of health with cholesterol, CBC, and

Thyroid. I do have a lot to be thankful for in that respect.

After what happened to Charlie Hart after birth (extended stay and so many

unnecessary tests), I am very leary of doing anything else major to him. I

do not want him to lose his sight in either eye, but I do not want to make

it worse, add more radiation to his body (since Xrays are cumulative and

never leave the body), or better yet lose him altogether.

I just cannot seem to get past what they did to him (without reason, without

consent, and against a court order to refrain from doing so). I guess I am

just trying to find out " why? " and trying to determine is this treatment was

normal or abnormal compared to everyone else. It seems that even with major

surgery or medical problems, his stay should not have been that long.

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November 28, 2006

>Assuming you want the truthful answer, yes.

My other three children who I know now have MDS had the exact opposite.

First was a c-section (don't want to go there again) and last three were

intentional homebirths.

I am grateful that the ambulance arrived and successfully got him breathing

in time. However, I am ungrateful that they did all those tests to my son

(including the DNA karyotype which I declined) without reason. I guess what

I am trying to say is if they had a " medical indication " to perform those

tests, then i would have been grateful. There was no medical reason other

than their " misdiagnosis " of " trisomy 21 " . They injected him repeatedly with

harmful antibiotics (which we are allergic to) and radiated him with unusual

doses of radiation for reasons they caused (anaphylaxis). What really made

me mad was that they tried to blame me for the anaphylaxis.

I don't know, they did a number on him and us.

That I know for sure.

All of my current doctors know in advance that I strictly prohibit

karyotyping for at least 3 months. And they also know that no mention of DS

is allowed. However, if there is an imminent problem, (like life-threatening

emergency) then they are tio address that problem only. I already know what

I to expect (MDS) and it does not bother me in the slightest. It would

bother me if they go against my wishes (again) and do the genetic identity

tests without my consent and against the law, again.

I am the type person that I do not look for medical problems without reason.

If it ain't broke, why bother trying to fix it.

In CH's case, they were looking for a problem and seemed to be angry that

they could not find one; unfortunately, they did this at his expense as well

as ours.

Just reading all the responses regarding this, I now know they did us wrong

in the worst way. I did not think that there was a reason without medical

evidence to support it (heart murmur, breathing issues, etc...) to hold a

child and continue to probe. I just wanted to check and make sure.

All of your responses will continue to be helpful to me and I sure

appreciate the responses. Thank you.

Now, I am a bit wiser and I am nipping it in the bud before the birth of our

next son.

Thanks so much for the responses. :0)

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November 30, 2006

,

Sorry, I have not read all of the emails that have been shared lately. Am I

understanding correctly that you have 4 children with MDS? And do you

yourself have MDS? I am a bit confused.

Thanks for the clarification

Angie mom to Ollie 2 months

>

>Reply-To: MosaicDS

>To: MosaicDS

>Subject: Re: What was the hospital stay for your child immediately

>following bir...

>Date: Mon, 27 Nov 2006 19:25:19 -0500

>

> >Assuming you want the truthful answer, yes.

>My other three children who I know now have MDS had the exact opposite.

>First was a c-section (don't want to go there again) and last three were

>intentional homebirths.

>I am grateful that the ambulance arrived and successfully got him breathing

>in time. However, I am ungrateful that they did all those tests to my son

>(including the DNA karyotype which I declined) without reason. I guess what

>I am trying to say is if they had a " medical indication " to perform those

>tests, then i would have been grateful. There was no medical reason other

>than their " misdiagnosis " of " trisomy 21 " . They injected him repeatedly

>with

>harmful antibiotics (which we are allergic to) and radiated him with

>unusual

>doses of radiation for reasons they caused (anaphylaxis). What really made

>me mad was that they tried to blame me for the anaphylaxis.

>I don't know, they did a number on him and us.

>That I know for sure.

>All of my current doctors know in advance that I strictly prohibit

>karyotyping for at least 3 months. And they also know that no mention of DS

>is allowed. However, if there is an imminent problem, (like

>life-threatening

>emergency) then they are tio address that problem only. I already know what

>I to expect (MDS) and it does not bother me in the slightest. It would

>bother me if they go against my wishes (again) and do the genetic identity

>tests without my consent and against the law, again.

>I am the type person that I do not look for medical problems without

>reason.

>If it ain't broke, why bother trying to fix it.

>In CH's case, they were looking for a problem and seemed to be angry that

>they could not find one; unfortunately, they did this at his expense as

>well

>as ours.

>Just reading all the responses regarding this, I now know they did us

>wrong

>in the worst way. I did not think that there was a reason without medical

>evidence to support it (heart murmur, breathing issues, etc...) to hold a

>child and continue to probe. I just wanted to check and make sure.

>All of your responses will continue to be helpful to me and I sure

>appreciate the responses. Thank you.

>Now, I am a bit wiser and I am nipping it in the bud before the birth of

>our

>next son.

>Thanks so much for the responses. :0)

>

>_________________________________________________________________

>Fixing up the home? Live Search can help

>http://imagine-windowslive.com/search/kits/default.aspx?kit=improve & locale=en-U\

S & source=hmemailtaglinenov06 & FORM=WLMTAG

>

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November 30, 2006

You are understanding correctly. Apparently my sibs, my nieces amd nephews and

my maternal lineage does as well. We are waiting on the chromosomal results for

all. (My son had his back first.) Apparently, my 20 year old displays a majority

of the symptoms. We think my husband may have it also. The geneticist says it is

familial and inherited, but we are currently looking into blood only.

http://discoverspaces.live.com?source=hmtag1 & loc=us

November 30, 2006

,

Has your family been diagnosed with the Mosaic Translocation Downs (MTDS)?

It was my understanding from my son's genetics counseling that the

translocation was the form that was passed on. The other forms were just a

chromosomal mix up of the egg or sperm. I would be very interested to hear

the results of your families tests, if you don't mind sharing. I have been

trying to learn as much as I can about MDS since my sons diagnosis in

Setpember, and what you are sharing is new information that I haven't heard

of before about MDS.

Thanks,

Angie

>

>Reply-To: MosaicDS

>To: <mosaicds >

>Subject: RE: What was the hospital stay for your child immediately

>following bir...

>Date: Thu, 30 Nov 2006 12:01:27 -0500

>

>You are understanding correctly. Apparently my sibs, my nieces amd nephews

>and my maternal lineage does as well. We are waiting on the chromosomal

>results for all. (My son had his back first.) Apparently, my 20 year old

>displays a majority of the symptoms. We think my husband may have it also.

>The geneticist says it is familial and inherited, but we are currently

>looking into blood only.

>

>http://discoverspaces.live.com?source=hmtag1 & loc=us

>

November 30, 2006

No, Mosaic Trisomy 21. And you are right to say you have never heard of it.

There was some research done on inherited trisomies and I am pestering my

geneticist for it now (he told me I had to keep on him to remind him to ask

someone for it).

We are so excited because we are changing history and the way Down Syndrome is

looked at in general. If indeed it is true that Mosaic DS is caused after

conception then the fluke occurs without fail in our family. However, we believe

currently that it is passed down as an inheritance before conception. This is

what we are trying to find out.

Kristy was going to try to get him (the geneticist) to do a write-up on us in a

journal so that everyone would be aware of this. I am all for this.

Strange thing is they said my son had Trisomy 21 (from a 20 cell count at birth)

and I knew they were wrong. I kept pressing until I found Dr. Flannery and he

retested with 500 cells and found a 50% mosaicism. (BIG DIFFERENCE). Then he

referred me to a study that reflected that when analyze only 7 or 8 cells out of

20 cells, then you have an error rate of 46% (within a 99% certainty). With 500

cells, there is only a 1% misdiagnosis rate within a 99% certainty. Well, that

explained his misdiagnosis and it disturbed me greatly (for other people).

Then after he looked at my girls, he could see the remnants of epicanthic folds

(even in my 20 yr old) and also he saw other signs like sandal gap deformity,

etc.... Strangely enough, we have physical signs that virtually disappear (to

the untrained eye) over time (the eyes). The gap in the toes and their sydney

line (for the girls) remain even 20 years later. Amazingly, we only have

susceptibility to respiratory problems (asthma that is stress or allergy induced

and sinus problems); all other health issues (heart, etc...) are clear.

To: MosaicDS@...: satterfieldangie@...: Thu, 30 Nov

2006 09:21:57 -0800Subject: RE: What was the hospital stay for your child

immediately following bir...

,Has your family been diagnosed with the Mosaic Translocation Downs (MTDS)?

It was my understanding from my son's genetics counseling that the translocation

was the form that was passed on. The other forms were just a chromosomal mix up

of the egg or sperm. I would be very interested to hear the results of your

families tests, if you don't mind sharing. I have been trying to learn as much

as I can about MDS since my sons diagnosis in Setpember, and what you are

sharing is new information that I haven't heard of before about

MDS.Thanks,Angie>>Reply-To:

MosaicDS >To: <mosaicds >>Subject: RE: What

was the hospital stay for your child immediately >following bir...>Date: Thu, 30

Nov 2006 12:01:27 -0500>>You are understanding correctly. Apparently my sibs, my

nieces amd nephews >and my maternal lineage does as well. We are waiting on the

chromosomal >results for all. (My son had his back first.) Apparently, my 20

year old >displays a majority of the symptoms. We think my husband may have it

also. >The geneticist says it is familial and inherited, but we are currently

>looking into blood

only.>>>>>http://discoverspaces.live.com?source=hmtag1 & loc=us>>[Non-text

portions of this message have been

removed]>__________________________________________________________Get FREE

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November 30, 2006

,

I'm curious to know how you got your geneticist to test 500 cells.

When I asked for the lab to run the test for Mosaic they only looked

at 50 cells. Is this something that your insurance paid for or did

you pay for it; and if you did do you mind sharing with us how much

that cost?

Also, are you saying that you believe that ALL MDS is passed down as

a genetic anomaly? Or just your family?

This is fascinating; please keep us updated. I manage

clinical/pharmaceutical research studies and am a

pharmacologist/toxicologist by training. So this kind of stuff is

very interesting to me; not to mention that my 6 month old has MDS

and I had to ask for the MDS test.

Did everyone else have to ask for the MDS test? How many cells were

tested?

Thanks,

Gwyn

Mom to Mark MDS 6 months

>

> No, Mosaic Trisomy 21. And you are right to say you have never

heard of it. There was some research done on inherited trisomies and

I am pestering my geneticist for it now (he told me I had to keep on

him to remind him to ask someone for it).

> We are so excited because we are changing history and the way Down

Syndrome is looked at in general. If indeed it is true that Mosaic

DS is caused after conception then the fluke occurs without fail in

our family. However, we believe currently that it is passed down as

an inheritance before conception. This is what we are trying to find

out.

> Kristy was going to try to get him (the geneticist) to do a write-

up on us in a journal so that everyone would be aware of this. I am

all for this.

> Strange thing is they said my son had Trisomy 21 (from a 20 cell

count at birth) and I knew they were wrong. I kept pressing until I

found Dr. Flannery and he retested with 500 cells and found a 50%

mosaicism. (BIG DIFFERENCE). Then he referred me to a study that

reflected that when analyze only 7 or 8 cells out of 20 cells, then

you have an error rate of 46% (within a 99% certainty). With 500

cells, there is only a 1% misdiagnosis rate within a 99% certainty.

Well, that explained his misdiagnosis and it disturbed me greatly

(for other people).

> Then after he looked at my girls, he could see the remnants of

epicanthic folds (even in my 20 yr old) and also he saw other signs

like sandal gap deformity, etc.... Strangely enough, we have

physical signs that virtually disappear (to the untrained eye) over

time (the eyes). The gap in the toes and their sydney line (for the

girls) remain even 20 years later. Amazingly, we only have

susceptibility to respiratory problems (asthma that is stress or

allergy induced and sinus problems); all other health issues (heart,

etc...) are clear.

>

> To: MosaicDS@...: satterfieldangie@...: Thu, 30 Nov 2006 09:21:57 -

0800Subject: RE: What was the hospital stay for your child

immediately following bir...

>

> ,Has your family been diagnosed with the Mosaic Translocation

Downs (MTDS)? It was my understanding from my son's genetics

counseling that the translocation was the form that was passed on.

The other forms were just a chromosomal mix up of the egg or sperm.

I would be very interested to hear the results of your families

tests, if you don't mind sharing. I have been trying to learn as

much as I can about MDS since my sons diagnosis in Setpember, and

what you are sharing is new information that I haven't heard of

before about MDS.Thanks,Angie>From: TenEyck

>Reply-To: MosaicDS >To:

<mosaicds >>Subject: RE: What was the hospital

stay for your child immediately >following bir...>Date: Thu, 30 Nov

2006 12:01:27 -0500>>You are understanding correctly. Apparently my

sibs, my nieces amd nephews >and my maternal lineage does as well.

We are waiting on the chromosomal >results for all. (My son had his

back first.) Apparently, my 20 year old >displays a majority of the

symptoms. We think my husband may have it also. >The geneticist says

it is familial and inherited, but we are currently >looking into

blood only.>>>>>http://discoverspaces.live.com?

source=hmtag1 & loc=us>>[Non-text portions of this message have been

removed]

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>

November 30, 2006

Actually, he asked for the test. i had no idea there was a different FISH test.

When he said he was going to test 500 cells rather than 20, I was grinning.

The test is called " Interphase FISH " and The medical college of Georgia (MCG)

did the lab work. Specific and explicit instructions were sent to the lab (and

they still had to call and get clarification. (I can provide those instructions

if needed or wanted.) The Interphase Fish tests for 500 cells; the cells come

back as numbered how many have Trisomic chromosomes and how many are normal. My

son's were about 50% of each. (The geneticist said it would be looked at that

way....the totals were 292 and 208 respectively)

We were referred by the local health department to a place here in Athens

(different county) called CMS or Children's Medical Services (a great place!)

(Note I am not certain if these places exist in every region?)

Anyways, all of my children have " medicaid " insurance. CMS took the liberty of

changing their HMO medicaid to open or special needs medicaid (like my son was

already on) and I am not sure how they did that so quickly and efficiently?

Then they ordered the Interphase FISH on us all (first on my son, then when his

results came back, they ordered the rest because he has the least phenotypical

or physical characteristics of us all). He did not want to do skin unless there

was a need to do so. he said we should find what we need in the blood cells

since Interphase FISH tests 500 rather than the standard FISH of 20 cells. (He

said a good skin test was more invasive and more accurate than the buccal skin

test, which he essentially compared to being as accurate as the 20 cell

test....not very accurate.)

My eldest daughter did not have any insurance at all. CMS contacted the lab and

asked for a discount since we were getting so many in the family done. They

offered to do hers for a mere $300 something dollars. CMS picked up that cost.

All of the tests have cost me nothing at all except the gas and the time and

repeat trips.(Well worth it to me.) I know that the next step is getting the

father tested. I am not sure how they do it, but they say they have to do this

in steps in order to get insurance to cover the costs. (I guess like a domino

effect that once a result comes back, he requests more information.) For Charlie

Hart, there was no need to find the percentage (if any) in his skin cells

because all we needed for malpractice against the doctors was a misdiagnosis and

we got that with The Interphase FISH test done on blood cells.

Although, he has already given us a preliminary diagnosis of inherited familial

MDS based on our numerous signs and symptoms that are rampant not only in my

little family, but also in my extended family (Mother, grandmother, cousins,

siblings, nieces, and nephews). Technically speaking, it only takes 3 signs to

comprise a syndrome. We have MANY MANY more than that and the geneticist agreed

with me as he examined each one of us. He also said that there is someone that

works with him that once did studies on inherited trisomies and he would try to

get that information for me.

In my family, I KNOW this has to be inherited. It is kinda obvious, but

apparently it was not obvious to the original diagnosing doctors. Or simply it

was a fact that they did not bother to take a family history and they did the

test against our wishes. (That makes me mad every time I say it.)

Anyway, apparently much information has been hidden in research and not divulged

to the public about inherited trisomies, such as mine.

At this point, I cannot say whether they have made an error and all MDS is

inherited. I just do not know enough. However, i do know one thing for certain.

Children get their genes from the donor parents and i believe in Mendelian

Inheritance. When I did the punnett square (pattern of inheritance) for my

family specifically, I came up with the following:

If both parents have MDS, out of 16 offspring, One each female and male would

be normal, one could have trisomy 21, and all the rest would have MDS. Of course

this is just using mathematical statistics. You essentially have to compare

three traits rather than two. it is a little difficult, but if you know anything

about punnett squares, then you will be able to figure this out. it is slightly

more difficult when you figure in percentages of each parent and the probability

of having a child who is affected. You would have to know each percentage of the

donor parents at the time of conception or thereabouts and it would be a curve

ball thrown into the math. I am not that familiar with it as I did not take

" Probability and Statistics " in school. Although, my mother would know, she is

not cooperative in discussing genes such as this. (She is a labeler and chooses

not to accept the labels she has for others. She does not want to know and does

not want others to know. I just attribute her aberrant behavior to the DS genes

and blow it off; whereas, it used to bother me.)

As soon as I hear something, I will let you all know. I have requested the

information as soon as it becomes available (before our next visit in January).

We only see the doc every other month because he comes up to Athens, GA from

Augusta, GA (a 3 hour trip). i am very grateful to have him and he has agreed to

do the foreword for my next book, which is actually a manual about Down

Syndrome.

i hope I answered everything. if not, ask away. :0)

To: MosaicDS@...: gwyn.theodore@...: Thu, 30 Nov 2006

21:40:08 +0000Subject: Re: What was the hospital stay for your child

immediately following bir...

,I'm curious to know how you got your geneticist to test 500 cells. When I

asked for the lab to run the test for Mosaic they only looked at 50 cells. Is

this something that your insurance paid for or did you pay for it; and if you

did do you mind sharing with us how much that cost?Also, are you saying that you

believe that ALL MDS is passed down as a genetic anomaly? Or just your

family?This is fascinating; please keep us updated. I manage

clinical/pharmaceutical research studies and am a pharmacologist/toxicologist by

training. So this kind of stuff is very interesting to me; not to mention that

my 6 month old has MDS and I had to ask for the MDS test.Did everyone else have

to ask for the MDS test? How many cells were tested?Thanks,GwynMom to Mark MDS 6

months>> No, Mosaic Trisomy 21. And you are right to say you have never heard of

it. There was some research done on inherited trisomies and I am pestering my

geneticist for it now (he told me I had to keep on him to remind him to ask

someone for it). > We are so excited because we are changing history and the way

Down Syndrome is looked at in general. If indeed it is true that Mosaic DS is

caused after conception then the fluke occurs without fail in our family.

However, we believe currently that it is passed down as an inheritance before

conception. This is what we are trying to find out.> Kristy was going to try to

get him (the geneticist) to do a write-up on us in a journal so that everyone

would be aware of this. I am all for this.> Strange thing is they said my son

had Trisomy 21 (from a 20 cell count at birth) and I knew they were wrong. I

kept pressing until I found Dr. Flannery and he retested with 500 cells and

found a 50% mosaicism. (BIG DIFFERENCE). Then he referred me to a study that

reflected that when analyze only 7 or 8 cells out of 20 cells, then you have an

error rate of 46% (within a 99% certainty). With 500 cells, there is only a 1%

misdiagnosis rate within a 99% certainty. Well, that explained his misdiagnosis

and it disturbed me greatly (for other people).> Then after he looked at my

girls, he could see the remnants of epicanthic folds (even in my 20 yr old) and

also he saw other signs like sandal gap deformity, etc.... Strangely enough, we

have physical signs that virtually disappear (to the untrained eye) over time

(the eyes). The gap in the toes and their sydney line (for the girls) remain

even 20 years later. Amazingly, we only have susceptibility to respiratory

problems (asthma that is stress or allergy induced and sinus problems); all

other health issues (heart, etc...) are clear.> > > To: MosaicDS@...:

satterfieldangie@...: Thu, 30 Nov 2006 09:21:57 -0800Subject: RE: What was

the hospital stay for your child immediately following bir...> > > > > ,Has

your family been diagnosed with the Mosaic Translocation Downs (MTDS)? It was my

understanding from my son's genetics counseling that the translocation was the

form that was passed on. The other forms were just a chromosomal mix up of the

egg or sperm. I would be very interested to hear the results of your families

tests, if you don't mind sharing. I have been trying to learn as much as I can

about MDS since my sons diagnosis in Setpember, and what you are sharing is new

information that I haven't heard of before about MDS.Thanks,Angie>From:

TenEyck >Reply-To: MosaicDS >To:

<mosaicds >>Subject: RE: What was the hospital stay for

your child immediately >following bir...>Date: Thu, 30 Nov 2006 12:01:27

-0500>>You are understanding correctly. Apparently my sibs, my nieces amd

nephews >and my maternal lineage does as well. We are waiting on the chromosomal

>results for all. (My son had his back first.) Apparently, my 20 year old

>displays a majority of the symptoms. We think my husband may have it also. >The

geneticist says it is familial and inherited, but we are currently >looking into

blood

only.>>>>>http://discoverspaces.live.com?source=hmtag1 & loc=us>>[Non-text

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December 3, 2006

Gwyn,

I didn't have to ask for a test. Since Ollie had subtle characteristics his

Pediatrition ordered the MDS test. He told us that in 99% of DS children

that he has seen he has been able to say " yes, DS. " But with Ollie he was

50/50.

Angie

Ollie's mommy 2 months

>

>Reply-To: MosaicDS

>To: MosaicDS

>Subject: Re: What was the hospital stay for your child immediately

>following bir...

>Date: Thu, 30 Nov 2006 21:40:08 -0000

>

>,

>

>I'm curious to know how you got your geneticist to test 500 cells.

>When I asked for the lab to run the test for Mosaic they only looked

>at 50 cells. Is this something that your insurance paid for or did

>you pay for it; and if you did do you mind sharing with us how much

>that cost?

>

>Also, are you saying that you believe that ALL MDS is passed down as

>a genetic anomaly? Or just your family?

>

>This is fascinating; please keep us updated. I manage

>clinical/pharmaceutical research studies and am a

>pharmacologist/toxicologist by training. So this kind of stuff is

>very interesting to me; not to mention that my 6 month old has MDS

>and I had to ask for the MDS test.

>

>Did everyone else have to ask for the MDS test? How many cells were

>tested?

>

>Thanks,

>Gwyn

>Mom to Mark MDS 6 months

>

> >

> > No, Mosaic Trisomy 21. And you are right to say you have never

>heard of it. There was some research done on inherited trisomies and

>I am pestering my geneticist for it now (he told me I had to keep on

>him to remind him to ask someone for it).

> > We are so excited because we are changing history and the way Down

>Syndrome is looked at in general. If indeed it is true that Mosaic

>DS is caused after conception then the fluke occurs without fail in

>our family. However, we believe currently that it is passed down as

>an inheritance before conception. This is what we are trying to find

>out.

> > Kristy was going to try to get him (the geneticist) to do a write-

>up on us in a journal so that everyone would be aware of this. I am

>all for this.

> > Strange thing is they said my son had Trisomy 21 (from a 20 cell

>count at birth) and I knew they were wrong. I kept pressing until I

>found Dr. Flannery and he retested with 500 cells and found a 50%

>mosaicism. (BIG DIFFERENCE). Then he referred me to a study that

>reflected that when analyze only 7 or 8 cells out of 20 cells, then

>you have an error rate of 46% (within a 99% certainty). With 500

>cells, there is only a 1% misdiagnosis rate within a 99% certainty.

>Well, that explained his misdiagnosis and it disturbed me greatly

>(for other people).

> > Then after he looked at my girls, he could see the remnants of

>epicanthic folds (even in my 20 yr old) and also he saw other signs

>like sandal gap deformity, etc.... Strangely enough, we have

>physical signs that virtually disappear (to the untrained eye) over

>time (the eyes). The gap in the toes and their sydney line (for the

>girls) remain even 20 years later. Amazingly, we only have

>susceptibility to respiratory problems (asthma that is stress or

>allergy induced and sinus problems); all other health issues (heart,

>etc...) are clear.

> >

> > To: MosaicDS@...: satterfieldangie@...: Thu, 30 Nov 2006 09:21:57 -

>0800Subject: RE: What was the hospital stay for your child

>immediately following bir...

> >

> > ,Has your family been diagnosed with the Mosaic Translocation

>Downs (MTDS)? It was my understanding from my son's genetics

>counseling that the translocation was the form that was passed on.

>The other forms were just a chromosomal mix up of the egg or sperm.

>I would be very interested to hear the results of your families

>tests, if you don't mind sharing. I have been trying to learn as

>much as I can about MDS since my sons diagnosis in Setpember, and

>what you are sharing is new information that I haven't heard of

>before about MDS.Thanks,Angie>From: TenEyck

>>Reply-To: MosaicDS >To:

><mosaicds >>Subject: RE: What was the hospital

>stay for your child immediately >following bir...>Date: Thu, 30 Nov

>2006 12:01:27 -0500>>You are understanding correctly. Apparently my

>sibs, my nieces amd nephews >and my maternal lineage does as well.

>We are waiting on the chromosomal >results for all. (My son had his

>back first.) Apparently, my 20 year old >displays a majority of the

>symptoms. We think my husband may have it also. >The geneticist says

>it is familial and inherited, but we are currently >looking into

>blood only.>>>>>http://discoverspaces.live.com?

>source=hmtag1 & loc=us>>[Non-text portions of this message have been

>removed]

> >__________________________________________________________Get FREE

>company branded e-mail accounts and business Web site from Microsoft

>Office Live

>http://clk.atdmt.com/MRT/go/mcrssaub0050001411mrt/direct/01/

> >

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> > Search from any Web page with powerful protection. Get the FREE

>Windows Live Toolbar Today!

> > http://get.live.com/toolbar/overview

> >

December 3, 2006

Just curious Angie...Did that doctor obtain a specific written consent from you

to do the genetic identity testing?

Although it appears that you did not object to the test, I just wondered if they

obtained it from you legally.

I had a problem with that after the birth of my son and I am surveying others in

order to discover how many doctors actually get the proper separate signed

consent and provide pre and post-counseling as well.

To: MosaicDS@...: satterfieldangie@...: Sun, 3 Dec

2006 09:26:56 -0800Subject: RE: Re: What was the hospital stay for your

child immediately following bir...

Gwyn,I didn't have to ask for a test. Since Ollie had subtle characteristics his

Pediatrition ordered the MDS test. He told us that in 99% of DS children that he

has seen he has been able to say " yes, DS. " But with Ollie he was

50/50.AngieOllie's mommy 2 months>From: " gapakenham "

>Reply-To: MosaicDS >To:

MosaicDS >Subject: Re: What was the hospital stay for your

child immediately >following bir...>Date: Thu, 30 Nov 2006 21:40:08

-0000>>,>>I'm curious to know how you got your geneticist to test 500

cells.>When I asked for the lab to run the test for Mosaic they only looked>at

50 cells. Is this something that your insurance paid for or did>you pay for it;

and if you did do you mind sharing with us how much>that cost?>>Also, are you

saying that you believe that ALL MDS is passed down as>a genetic anomaly? Or

just your family?>>This is fascinating; please keep us updated. I

manage>clinical/pharmaceutical research studies and am

a>pharmacologist/toxicologist by training. So this kind of stuff is>very

interesting to me; not to mention that my 6 month old has MDS>and I had to ask

for the MDS test.>>Did everyone else have to ask for the MDS test? How many

cells were>tested?>>Thanks,>Gwyn>Mom to Mark MDS 6 months>>>> >> > No,

Mosaic Trisomy 21. And you are right to say you have never>heard of it. There

was some research done on inherited trisomies and>I am pestering my geneticist

for it now (he told me I had to keep on>him to remind him to ask someone for

it).> > We are so excited because we are changing history and the way

Down>Syndrome is looked at in general. If indeed it is true that Mosaic>DS is

caused after conception then the fluke occurs without fail in>our family.

However, we believe currently that it is passed down as>an inheritance before

conception. This is what we are trying to find>out.> > Kristy was going to try

to get him (the geneticist) to do a write->up on us in a journal so that

everyone would be aware of this. I am>all for this.> > Strange thing is they

said my son had Trisomy 21 (from a 20 cell>count at birth) and I knew they were

wrong. I kept pressing until I>found Dr. Flannery and he retested with 500 cells

and found a 50%>mosaicism. (BIG DIFFERENCE). Then he referred me to a study

that>reflected that when analyze only 7 or 8 cells out of 20 cells, then>you

have an error rate of 46% (within a 99% certainty). With 500>cells, there is

only a 1% misdiagnosis rate within a 99% certainty.>Well, that explained his

misdiagnosis and it disturbed me greatly>(for other people).> > Then after he

looked at my girls, he could see the remnants of>epicanthic folds (even in my 20

yr old) and also he saw other signs>like sandal gap deformity, etc.... Strangely

enough, we have>physical signs that virtually disappear (to the untrained eye)

over>time (the eyes). The gap in the toes and their sydney line (for the>girls)

remain even 20 years later. Amazingly, we only have>susceptibility to

respiratory problems (asthma that is stress or>allergy induced and sinus

problems); all other health issues (heart,>etc...) are clear.> >> >> > To:

MosaicDS@...: satterfieldangie@...: Thu, 30 Nov 2006 09:21:57 ->0800Subject: RE:

What was the hospital stay for your child>immediately following bir...> >>

>> >> >> > ,Has your family been diagnosed with the Mosaic

Translocation>Downs (MTDS)? It was my understanding from my son's

genetics>counseling that the translocation was the form that was passed on.>The

other forms were just a chromosomal mix up of the egg or sperm.>I would be very

interested to hear the results of your families>tests, if you don't mind

sharing. I have been trying to learn as>much as I can about MDS since my sons

diagnosis in Setpember, and>what you are sharing is new information that I

haven't heard of>before about MDS.Thanks,Angie>From:

TenEyck>>Reply-To:

MosaicDS >To:><mosaicds >>Subject: RE: What

was the hospital>stay for your child immediately >following bir...>Date: Thu, 30

Nov>2006 12:01:27 -0500>>You are understanding correctly. Apparently my>sibs, my

nieces amd nephews >and my maternal lineage does as well.>We are waiting on the

chromosomal >results for all. (My son had his>back first.) Apparently, my 20

year old >displays a majority of the>symptoms. We think my husband may have it

also. >The geneticist says>it is familial and inherited, but we are currently

>looking into>blood

only.>>>>>http://discoverspaces.live.com?>source=hmtag1 & loc=us>>[Non-text

portions of this message have been>removed]>

>__________________________________________________________Get FREE>company

branded e-mail accounts and business Web site from Microsoft>Office

Live>http://clk.atdmt.com/MRT/go/mcrssaub0050001411mrt/direct/01/> >> >> >

__________________________________________________________> > Search from any

Web page with powerful protection. Get the FREE>Windows Live Toolbar Today!> >

http://get.live.com/toolbar/overview> >> > [Non-text portions of this message

have been removed]>

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858fe

December 4, 2006

,

We gave verbal consent to do the test while in the hospital. And all

of the pediatricians (4 of them) told us that they weren't certain

that Mark had DS. His muscle tone was very strong (and still is) and

his other signs were so subtle. Actually, it was the 2nd

pediatrician that saw him that suggested we should do the test. Two

others after her said they wouldn't have picked it up b/c his muscle

tone was/is so strong. When the results came back, I requested to

have him tested for MDS as I had read so much about DS and was

convinced that he had DS.

- to chime in to your question about what tests to do. I only

did the blood test to show my percentage of having a child with DS

and they told me I went from something like, 1 in 300 to 1 in 2000.

The doctors also told me after the ultrasound that he had no

problems. It was only after he was born that we found out. With that

said, I will not do any tests, other than have an ultrasound, when I

get pregnant with the next one (if I do, I should say!). I'm so

excited for you and your wife - a baby is such a blessing!

Gwyn

Mommy to Mark MDS 6 months

>

>> > No, Mosaic Trisomy 21. And you are right to say you have

never>heard of it. There was some research done on inherited

trisomies and>I am pestering my geneticist for it now (he told me I

had to keep on>him to remind him to ask someone for it).> > We are

so excited because we are changing history and the way Down>Syndrome

is looked at in general. If indeed it is true that Mosaic>DS is

caused after conception then the fluke occurs without fail in>our

family. However, we believe currently that it is passed down as>an

inheritance before conception. This is what we are trying to

find>out.> > Kristy was going to try to get him (the geneticist) to

do a write->up on us in a journal so that everyone would be aware of

this. I am>all for this.> > Strange thing is they said my son had

Trisomy 21 (from a 20 cell>count at birth) and I knew they were

wrong. I kept pressing until I>found Dr. Flannery and he retested

with 500 cells and found a 50%>mosaicism. (BIG DIFFERENCE). Then he

referred me to a study that>reflected that when analyze only 7 or 8

cells out of 20 cells, then>you have an error rate of 46% (within a

99% certainty). With 500>cells, there is only a 1% misdiagnosis rate

within a 99% certainty.>Well, that explained his misdiagnosis and it

disturbed me greatly>(for other people).> > Then after he looked at

my girls, he could see the remnants of>epicanthic folds (even in my

20 yr old) and also he saw other signs>like sandal gap deformity,

etc.... Strangely enough, we have>physical signs that virtually

disappear (to the untrained eye) over>time (the eyes). The gap in

the toes and their sydney line (for the>girls) remain even 20 years

later. Amazingly, we only have>susceptibility to respiratory

problems (asthma that is stress or>allergy induced and sinus

problems); all other health issues (heart,>etc...) are clear.> >> >>

> To: MosaicDS@: satterfieldangie@: Thu, 30 Nov 2006 09:21:57 -

>0800Subject: RE: What was the hospital stay for your

child>immediately following bir...> >> >> >> >> > ,Has your

family been diagnosed with the Mosaic Translocation>Downs (MTDS)? It

was my understanding from my son's genetics>counseling that the

translocation was the form that was passed on.>The other forms were

just a chromosomal mix up of the egg or sperm.>I would be very

interested to hear the results of your families>tests, if you don't

mind sharing. I have been trying to learn as>much as I can about MDS

since my sons diagnosis in Setpember, and>what you are sharing is

new information that I haven't heard of>before about

MDS.Thanks,Angie>From: TenEyck><agirlnamedsuess@>>Reply-To:

MosaicDS >To:><mosaicds >>Subject: RE:

What was the hospital>stay for your child immediately

>following bir...>Date: Thu, 30 Nov>2006 12:01:27 -0500>>You are

understanding correctly. Apparently my>sibs, my nieces amd nephews

>and my maternal lineage does as well.>We are waiting on the

chromosomal >results for all. (My son had his>back first.)

Apparently, my 20 year old >displays a majority of the>symptoms. We

think my husband may have it also. >The geneticist says>it is

familial and inherited, but we are currently >looking into>blood

only.>>>>>http://discoverspaces.live.com?>source=hmtag1 & loc=us>>

[Non-text portions of this message have been>removed]>

>__________________________________________________________Get

FREE>company branded e-mail accounts and business Web site from

Microsoft>Office

Live>http://clk.atdmt.com/MRT/go/mcrssaub0050001411mrt/direct/01/>

>> >> > __________________________________________________________>

> Search from any Web page with powerful protection. Get the

FREE>Windows Live Toolbar Today!> >

http://get.live.com/toolbar/overview> >> > [Non-text portions of

this message have been removed]>

>>>__________________________________________________________Get

free, personalized commercial-free online radio with MSN Radio

powered by Pandora http://radio.msn.com/?icid=T002MSN03A07001

>

> _________________________________________________________________

> Use Messenger to talk to your IM friends, even those on Yahoo!

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45ba-81cc-685ee3e858fe

>

December 16, 2006

my daughter Mikayla was in the hospital over a month after she was born, she was

also one month early, she had to have stomach surgery the day after her birth,

which was very scary for me.

The ronald mcdonald house was very nice and allowed me to stay there the

entire time she was in the hospital. so that was a blessing

Angie Satterfield wrote:

,

Sorry, I have not read all of the emails that have been shared lately. Am I

understanding correctly that you have 4 children with MDS? And do you

yourself have MDS? I am a bit confused.

Thanks for the clarification

Angie mom to Ollie 2 months

>From: " TenEyck "

>Reply-To: MosaicDS

>To: MosaicDS

>Subject: Re: What was the hospital stay for your child immediately

>following bir...

>Date: Mon, 27 Nov 2006 19:25:19 -0500

>

> >Assuming you want the truthful answer, yes.

>My other three children who I know now have MDS had the exact opposite.

>First was a c-section (don't want to go there again) and last three were

>intentional homebirths.

>I am grateful that the ambulance arrived and successfully got him breathing

>in time. However, I am ungrateful that they did all those tests to my son

>(including the DNA karyotype which I declined) without reason. I guess what

>I am trying to say is if they had a " medical indication " to perform those

>tests, then i would have been grateful. There was no medical reason other

>than their " misdiagnosis " of " trisomy 21 " . They injected him repeatedly

>with

>harmful antibiotics (which we are allergic to) and radiated him with

>unusual

>doses of radiation for reasons they caused (anaphylaxis). What really made

>me mad was that they tried to blame me for the anaphylaxis.

>I don't know, they did a number on him and us.

>That I know for sure.

>All of my current doctors know in advance that I strictly prohibit

>karyotyping for at least 3 months. And they also know that no mention of DS

>is allowed. However, if there is an imminent problem, (like

>life-threatening

>emergency) then they are tio address that problem only. I already know what

>I to expect (MDS) and it does not bother me in the slightest. It would

>bother me if they go against my wishes (again) and do the genetic identity

>tests without my consent and against the law, again.

>I am the type person that I do not look for medical problems without

>reason.

>If it ain't broke, why bother trying to fix it.

>In CH's case, they were looking for a problem and seemed to be angry that

>they could not find one; unfortunately, they did this at his expense as

>well

>as ours.

>Just reading all the responses regarding this, I now know they did us

>wrong

>in the worst way. I did not think that there was a reason without medical

>evidence to support it (heart murmur, breathing issues, etc...) to hold a

>child and continue to probe. I just wanted to check and make sure.

>All of your responses will continue to be helpful to me and I sure

>appreciate the responses. Thank you.

>Now, I am a bit wiser and I am nipping it in the bud before the birth of

>our

>next son.

>Thanks so much for the responses. :0)

>

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