Re: Daughter dx'ed with trisomy x today... :(

April 9, 2009

If you don't have any support, you might try Unique. It is for rare chromosome

disorders. rarechromo@.... They have great geneticists on staff and can

help with emotional and educational support. They are based out of the UK, so

be patient with their response time.

I hope things go well for your daughter. I know a girl, locally with this, and

she is doing great. I did not know she even had a disability.

Sharon

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Sharon Lang

> From: <cp_mistyrose@...>

> Subject: [ ] Daughter dx'ed with trisomy x today...

>

> Date: Thursday, April 9, 2009, 8:07 PM

>

> I know this is a bit off topic for the

> 'apraxia' board, but I need to vent...

>

> My son (3) has apraxia and SPD. I knew something was up

> with my daughter (5 next week) from early on - issues

> include speech delays, hypotonia, etc, as well as being a

> motor learner (can't just watch and pick up new tricks

> without help), and more recently, mirror imaging her

> writing. We recently learned that she has a lot of problems

> with visual tracking, so I expected either dyslexia or

> visual processing disorder.

>

> Needless to say, I was a bit surprised when Trisomy X came

> up as the answer. I'm not sure what to think right now.

> Obviously, she is who she always was... The only difference

> is I have a name to go with the issues I knew about.

>

> On another note, the neuro also told me she tested low for

> Carnitine - it would explain some of the muscle issues.

> They're re-testing since an amino acid came low (done as

> urine - will be re-done as blood), but they will most likely

> start Carnitine supplements afterwards. At least I've

> seen that word around the board lately - it'll give me

> something to research...

>

> I'm hoping that something good will come of this,

> although I don't know what or how... Her school SLP was

> raving about how mature she sounds and how well she speaks

> now (although she still has halted speech), and I was

> worried that they'd stop services when she enters

> kindergarten. Either way, I called the school today (closed

> - spring break) and left a message since my transition

> review is at the end of the month. No use waiting until I

> get there and have to replan the meeting based on new info,

> right? And that's where the bright side ends...

>

> Well, thanks to everyone who listened to me carry on. If

> there's any advice anyone can give, please feel free to

> pass it on.

>

April 9, 2009

, That does not sound good on the school end. It sounds to me also like

yourline of thinking.I think that they are trying to get rid of her services by

raving how well she speaking. I would just come back with facts when they say

something like that. (Example: No, she still has halting speech. ...or whatever

else issues she is having.)

-- In , " " <cp_mistyrose@...>

wrote:

>

> I know this is a bit off topic for the 'apraxia' board, but I need to vent...

>

> My son (3) has apraxia and SPD. I knew something was up with my daughter (5

next week) from early on - issues include speech delays, hypotonia, etc, as well

as being a motor learner (can't just watch and pick up new tricks without help),

and more recently, mirror imaging her writing. We recently learned that she has

a lot of problems with visual tracking, so I expected either dyslexia or visual

processing disorder.

>

> Needless to say, I was a bit surprised when Trisomy X came up as the answer.

I'm not sure what to think right now. Obviously, she is who she always was...

The only difference is I have a name to go with the issues I knew about.

>

> On another note, the neuro also told me she tested low for Carnitine - it

would explain some of the muscle issues. They're re-testing since an amino acid

came low (done as urine - will be re-done as blood), but they will most likely

start Carnitine supplements afterwards. At least I've seen that word around the

board lately - it'll give me something to research...

>

> I'm hoping that something good will come of this, although I don't know what

or how... Her school SLP was raving about how mature she sounds and how well she

speaks now (although she still has halted speech), and I was worried that they'd

stop services when she enters kindergarten. Either way, I called the school

today (closed - spring break) and left a message since my transition review is

at the end of the month. No use waiting until I get there and have to replan the

meeting based on new info, right? And that's where the bright side ends...

>

> Well, thanks to everyone who listened to me carry on. If there's any advice

anyone can give, please feel free to pass it on.

>

April 10, 2009

I honestly have never heard of " Trisomy X " . Is this the same thing as

" Fragile X " ??

Assuming so maybe?

Bek

In a message dated 4/9/2009 8:33:59 P.M. Eastern Daylight Time,

cp_mistyrose@... writes:

I know this is a bit off topic for the 'apraxia' board, but I need to

vent...

My son (3) has apraxia and SPD. I knew something was up with my daughter

(5 next week) from early on - issues include speech delays, hypotonia, etc,

as well as being a motor learner (can't just watch and pick up new tricks

without help), and more recently, mirror imaging her writing. We recently

learned that she has a lot of problems with visual tracking, so I expected

either dyslexia or visual processing disorder.

Needless to say, I was a bit surprised when Trisomy X came up as the

answer. I'm not sure what to think right now. Obviously, she is who she always

was... The only difference is I have a name to go with the issues I knew

about.

On another note, the neuro also told me she tested low for Carnitine - it

would explain some of the muscle issues. They're re-testing since an amino

acid came low (done as urine - will be re-done as blood), but they will

most likely start Carnitine supplements afterwards. At least I've seen that

word around the board lately - it'll give me something to research...

I'm hoping that something good will come of this, although I don't know

what or how... Her school SLP was raving about how mature she sounds and how

well she speaks now (although she still has halted speech), and I was

worried that they'd stop services when she enters kindergarten. Either way, I

called the school today (closed - spring break) and left a message since my

transition review is at the end of the month. No use waiting until I get

there and have to replan the meeting based on new info, right? And that's

where the bright side ends...

Well, thanks to everyone who listened to me carry on. If there's any

advice anyone can give, please feel free to pass it on.

**************Feeling the pinch at the grocery store? Make dinner for $10

or less. (http://food.aol.com/frugal-feasts?ncid=emlcntusfood00000001)

April 11, 2009

This is just from Googling-- trisomy X. It is described as a very mild

condition thats usually not found till later in life. Was the testing

done by a genetics doctor? If not, that might be someone to follow up

with. Not even close to fragile x- which is on the spectrum.

From Wikiepedia:

Due to the lyonization, inactivation and formation of a Barr body

<http://en.wikipedia.org/wiki/Barr_body> , in all female cells, only one

X chromosome <http://en.wikipedia.org/wiki/X_chromosome> is active at

any time in a female cell. Thus, triple X syndrome most often causes no

unusual physical features or medical problems. Females with the

condition may have menstrual irregularities, and, although rarely

exhibiting severe mental impairments, have an increased risk of learning

disabilities <http://en.wikipedia.org/wiki/Learning_disabilities> ,

delayed speech <http://en.wikipedia.org/wiki/Delayed_speech> , and

language skills.

In Triple X, XYY <http://en.wikipedia.org/wiki/XYY> and Klinefelter's

syndrome <http://en.wikipedia.org/wiki/Klinefelter%27s_syndrome> , a

lanky/youthful appearance with increased facial beauty has been

described, or in some instances varying degrees of androgyny

<http://en.wikipedia.org/wiki/Androgyny> , but these cases usually

reflect traits present in near relatives. An individual producing a

child with the above abnormalities has higher than average risk to

produce more. Most commonly, there is no observable difference in triple

X, other than being taller than average. The additional X chromosome can

come from either the maternal <http://en.wikipedia.org/wiki/Maternal>

or paternal <http://en.wikipedia.org/wiki/Paternal> side. The condition

is verified only by karyotype <http://en.wikipedia.org/wiki/Karyotype>

testing.

Most women with triple X have normal sexual development accompanied with

prolonged physical and or emotional youth and are able to conceive

children. Some experience an early onset of menstruation

<http://en.wikipedia.org/wiki/Menstruation> . Triple X women are rarely

diagnosed, apart from pre-natal <http://en.wikipedia.org/wiki/Pre-natal>

testing methods, such as amniocentesis

<http://en.wikipedia.org/wiki/Amniocentesis> and blood tests

<http://en.wikipedia.org/wiki/Blood_tests> for medical reasons later in

life. Most medical professionals do not regard the condition a

disability <http://en.wikipedia.org/wiki/Disability> . However, such

status can be sought by parents for early intervention treatment

<http://en.wikipedia.org/wiki/Treatment> if mild delays are present.

>

April 11, 2009

It is the same thing as " Triple X " .

To prevent me having to type it all out, here is a link that explains it

basically.

http://en.wikipedia.org/wiki/Triple_X_syndrome

>

> I honestly have never heard of " Trisomy X " . Is this the same thing as

> " Fragile X " ??

>

> Assuming so maybe?

>

> Bek

>

> In a message dated 4/9/2009 8:33:59 P.M. Eastern Daylight Time,

> cp_mistyrose@... writes:

>

> I know this is a bit off topic for the 'apraxia' board, but I need to

> vent...

>

> My son (3) has apraxia and SPD. I knew something was up with my daughter

> (5 next week) from early on - issues include speech delays, hypotonia, etc,

> as well as being a motor learner (can't just watch and pick up new tricks

> without help), and more recently, mirror imaging her writing. We recently

> learned that she has a lot of problems with visual tracking, so I expected

> either dyslexia or visual processing disorder.

>

> Needless to say, I was a bit surprised when Trisomy X came up as the

> answer. I'm not sure what to think right now. Obviously, she is who she

always

> was... The only difference is I have a name to go with the issues I knew

> about.

>

> On another note, the neuro also told me she tested low for Carnitine - it

> would explain some of the muscle issues. They're re-testing since an amino

> acid came low (done as urine - will be re-done as blood), but they will

> most likely start Carnitine supplements afterwards. At least I've seen that

> word around the board lately - it'll give me something to research...

>

> I'm hoping that something good will come of this, although I don't know

> what or how... Her school SLP was raving about how mature she sounds and how

> well she speaks now (although she still has halted speech), and I was

> worried that they'd stop services when she enters kindergarten. Either way, I

> called the school today (closed - spring break) and left a message since my

> transition review is at the end of the month. No use waiting until I get

> there and have to replan the meeting based on new info, right? And that's

> where the bright side ends...

>

> Well, thanks to everyone who listened to me carry on. If there's any

> advice anyone can give, please feel free to pass it on.

>

> **************Feeling the pinch at the grocery store? Make dinner for $10

> or less. (http://food.aol.com/frugal-feasts?ncid=emlcntusfood00000001)

>

April 11, 2009

Trisomy X/Triple X and Fragile X are not the same thing. They are two entirely

different syndromes. Triple X only affects girls hence having the extra X

chromosome. Triple X is very rare. Girls may or may not display any traits. It

depends on how many genes have the extra chromosome. The most common traits

are speech delays, motor delays, and sensory. Triple X girls are also slightly

taller than their peers. With early therapies these girls will have normal

happy lives. Mental retardation does not play a part in Triple X as does with

Fragile X.

Please visit a geneticist in your area should you have questions. Ask your

pediatrician for a referral.

Before warned that there is very limited research on Triple X and it is very

outdated. You may Google it by 47,XXX or Trisomy X. Triple X will get you

some unwanted information....a geneticist can also give you information.

There is a support group on as well as one in the UK. You can also try

the Kleinsfelter website there is a contact person there named Jill Balfour, her

daughter has Triple X and is in her twenties now. Though, she may have more

going on then her original diagnosis of Triple X.

>

> I honestly have never heard of " Trisomy X " . Is this the same thing as

> " Fragile X " ??

>

> Assuming so maybe?

>

> Bek

>

> In a message dated 4/9/2009 8:33:59 P.M. Eastern Daylight Time,

> cp_mistyrose@... writes:

>

> I know this is a bit off topic for the 'apraxia' board, but I need to

> vent...

>

> My son (3) has apraxia and SPD. I knew something was up with my daughter

> (5 next week) from early on - issues include speech delays, hypotonia, etc,

> as well as being a motor learner (can't just watch and pick up new tricks

> without help), and more recently, mirror imaging her writing. We recently

> learned that she has a lot of problems with visual tracking, so I expected

> either dyslexia or visual processing disorder.

>

> Needless to say, I was a bit surprised when Trisomy X came up as the

> answer. I'm not sure what to think right now. Obviously, she is who she

always

> was... The only difference is I have a name to go with the issues I knew

> about.

>

> On another note, the neuro also told me she tested low for Carnitine - it

> would explain some of the muscle issues. They're re-testing since an amino

> acid came low (done as urine - will be re-done as blood), but they will

> most likely start Carnitine supplements afterwards. At least I've seen that

> word around the board lately - it'll give me something to research...

>

> I'm hoping that something good will come of this, although I don't know

> what or how... Her school SLP was raving about how mature she sounds and how

> well she speaks now (although she still has halted speech), and I was

> worried that they'd stop services when she enters kindergarten. Either way, I

> called the school today (closed - spring break) and left a message since my

> transition review is at the end of the month. No use waiting until I get

> there and have to replan the meeting based on new info, right? And that's

> where the bright side ends...

>

> Well, thanks to everyone who listened to me carry on. If there's any

> advice anyone can give, please feel free to pass it on.

>

> **************Feeling the pinch at the grocery store? Make dinner for $10

> or less. (http://food.aol.com/frugal-feasts?ncid=emlcntusfood00000001)

>

April 11, 2009

Bek, Trisomy X is very different than Fragile X.

Trisomy X means there are three instead of two X chromosomes in a

female. It's a chromosomal disorder where when the egg is formed the

two X chromosomes don't split. These type of chromosome differences

can happen in either sperm or egg and rarely can happen during early

embryo development when cells are splitting rapidly. People can have

XXX, XXY and XYY. In rare cases there can even be XXYY. XXX is not

that rare, occurring in about 1 in 1000. There are no physical

characteristics except sometimes the girls are taller than normal.

Only one chromosome expresses in each cell at a given time. The other

is just " there " I guess you could say. Usually there are only mild

developmental delays, sometimes learning disabilities and speech

delays. Development is usually normal and these girls are fertile.

,

That's about all I remember from college genetics, I have no personal

experience, but I would assume that if it wasn't diagnosed until now

that has to be a good sign! I would hope that this new information

would warrant an automatic continuation of speech, especially if you

can show it has been effective. I like the idea of saying, " Yes,

she's doing great in a, b and c, but now we need to work on d, e and

f. " And point out the halting speech and fluency issues.

Anything knew that hits you like this has got to be hard. Have

you been referred to someone who can answer your questions? I'd start

there. I found this support group locator:

http://www.genetic.org/knowledge/support/action/C113/ There also

seems to be a lot of info on that site:

http://www.genetic.org/knowledge/support/action/200/#Brief%20Introduction%20to%2\

0Trisomy%20X

Hope this helps!

Miche

On Fri, Apr 10, 2009 at 2:52 PM, <tbniesh@...> wrote:

>

> I honestly have never heard of " Trisomy X " . Is this the same thing as

> " Fragile X " ??

>

> Assuming so maybe?

>

> Bek

>

April 11, 2009

Fragile X affects males and females and is a mutation on the X gene, which is

different than Triple X, which affects only girls. Here is the link for the

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