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Re: DNA UPD test is back

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Ann,

My daughter will be 5 on Sept. 5 and just hit the 30 pound mark a

couple of months ago and is 34 inches tall. Our girls sound very similar.

We finally " let it go " when Sam was 3, as far as the constant testing and

doctors, and are grateful she has only mild markers of RSS. She, too, had

some issues. For example, we didn't get her picture professionally done

until she was nearly four because everytime she would get put on that table,

she would expect some strange doctor to start poking at her. Happy to say

that now she's turned into a real ham with the camera and has forgotten the

needles and stranger anxiety for the most part.

About the stroller -- GET ONE. Getting these kids to stroll the mall is

like asking us to run a marathon. I can't even think of analogy for theme

parks! We are going to Walt Disney World in December and even my big almost

8 year old is going to be getting into the stroller is he can wrangle it

away from his sister. The average walking distance per day is eight miles!

You can get one of those inexpensive umbrella strollers and save both your

little girl's legs and your back!

:0)

Tori

(You can Sam's pictures on the RSS page -- I think it's under Mask)

DNA UPD test is back

> HI Gang,

> Well, the test results are in and Natasha's genetist called right away....

> Just as suspected,,, Negative. Nada, Nope, Nothing.

> So, it is sorta a disapointment, but not surprising. He says she may have

> some variant of RSS, but only time will tell. He also said he has no way

of

> predicting anything about her hieght at this time. She may be very small.

> He also says there are cases where children have growth spurts very late.

It

> is so hard not to know. I still feel like it is somehting,, but it is

time

> to let it go and get on with life.

> There are some things going on with Natasha's development which are not

good,

> but not surprising. She is rather traumatized from all the

hospitalizations,

> tests and docotrs. She has regressed in many areas,,, esp socially and

> emotionally.

>

> Many of you already know we have been in the process of checking out the

> school district to get Natasha a IEP and well, based on her medical

reports

> that I sent they have concluded that Natasha qualifies for special

education

> and full services to what ever she may need. We are checking out a few

> schools and also having a IEP done in 2 weeks. They are moving fast.

They

> are getting it done in 30 rather than 50 days. Natasha was evaluated and

she

> is behind in some areas and does well in others. We are scared if we dont

> act now and place lots of atttention on her early education,,, by the time

> she gets to school she will be signficantly behind. So we hope we like

the

> school that has been recomended. The ratio will be so great. Enrollment

is

> 8 children. THere is 1 teacher, 1 aid and a nurse... Also there are

floating

> Pt/Ot and whatever else the kids need.

>

> On another note. Anyone out there have stamina issues? Specifically what

do

> you do about long jaunts at the Mall or trips to the Zoo or long days at

> amusement parks? Natasha's stroller just broke after 4 1/2 years. Do we

buy

> her another one? She is not stong enough to jsut stroll the mall or

anything

> else really long like that. She tires easily and frankly we cannot carry

her

> anymore. I just do not konw what to do. My friend who is a Parent

> coordinator for Little People of America says do not buy a new stoller.

But

> I just do not think she is strong enough to go without one yet. And we

are

> not sure when she will be. I asked this of her genetist and he said it is

> problematic... go ask a physical therpaist/occupational therapist at

> Natasha's new school. Input needed.

> Well, hope I have not put anyone to sleep. Thanks for all being here.

> XOXO hugs,

> Ann- Mom to Natasha,,, short stature,,, looks like she may or may not have

> RSS... Short stature 4 1/2 years old, 28 pounds and 35.5 inches.

>

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We would only do a blood test IF was going to have blood drawn for

something else more important (surgery). had surgery @ 1 y.o.,

but no blood test done at that time (I got smart later!). Surgery #2

they drew blood for the RSS test (never rec'd results...grrr!). My

husband was with my son when they wanted to do another test... he said

yes and they took like 10 vials from him! Major " Grrr!! " ..and its

been 5 months, no results. How long has it taken everyone else to get

their results back?

Sue R.

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Ann,

We saw both someone at the LPA campout AND a 5-yr old child without

dwarfism get something that might be helpful to Natasha (and perhaps our

son sometime...). It is a scooter which is getting popular for all ages,

including at college. It is like a skateboard with a long very

easily-adjustable handle. I'm not sure what they are called... Does

anyone else know what I mean?

Inga

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SRawley@... ( Rawley) says:

Surgery #2

they drew blood for the RSS test (never rec'd results...grrr!). My

husband was with my son when they wanted to do another test... he said

yes and they took like 10 vials from him! Major " Grrr!! " ..and its

been 5 months, no results. How long has it taken everyone else to get

their results back?

OUr daughter has had a enourmous plethera of blood work ups..

A very brief over view of just the tests: started with us demanding a simple

work up when she was 3 to find out why she was the size of a small 1 year

old. Took us on a wild ride. Which we are chosing to get off of now.

SHe was tested for ghd, fanconies, turners, celiac, kariotyping, cromosonal

testing, smith lemi opitz, heart failure, bowel rotation, ghd again, rickets,

vitamin difficencies, skeletal dyplasias, opto septic something, hearing

realated stuff, every metabolic disorder that could be causes of her

dehydration problems, hypoglacimia and tons more I probably dont know about.

The last one was for the UPD, RSS thing.

All tests have been negative. I dont think any of them took longer than 3 or

4 weeks. Much of her blood was sent to Baylor, Mayo and many other specialty

labs around the country.

This last round of tests took approx 3 weeks.. after all the stupidness was

taken care of. (Natasha's blood sat alone in North Carolina waiting for our

blood. One doctor said they didnt need our blood for comparison.) I argued

to no avail, then 3 weeks later a doctor called us saying her blood was

waiting for our blood. No kidding. Then it was done.

We have really exausted all the testing we are going to do at this time.

They do not know why Natasha is the size or has the quirks and health

concerns she does have. The closest diagnosis they have is RSS. So

eventually her Genetist says if nothing else appears,, he will diagnosis her

with it. They work slightly different where she is going for care. I do

trust this doctor. He is very involved and totally cares for Natasha. He

always calls with her results.. He returns calls right away if he is in the

state. Even the most simple questiions, he never apears put upon or anoyed.

We are first and only time parents, so it takes a bit more patience on the

part of the doctors. The impatient ones drop us like hot potatoes. Good for

us and Natasha.

Bottom line, her Genetist and us agree that Natasha is over medicalized,

traumatiezed and regressing from the stress of it all. Time to back off, let

her be a kid and move on.

There will be no more investigations unless she gets ill agin. Then we can

request blood draws for different studies if nessesary at the time. I pray

that she stays healthy and out of the hospital.

Well, enough for now. Thanks for everything. I love this group.

Ann- Mom to Natasha. 4 1/2 years old, 35.5 inches, 28 pounds. Short

stature, Possible RSS

Features: incurved 5th finger, funny creased hands, soft dysmorphic

features, down slanted eyes, weak muscles accross mid face, small hands and

feet, sometimes very poor appitite, head appears large in proportion to small

body. She had triangular face in early years. It has disapeared. She is

said to have a square shaped head, slow growing hair and nails. Large toes

look like a thumb and scoops up to sky, sacral dimples, very slight assemetry

of her legs and ears, cute babish voice, quickly dehydrates.

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Yes, they sell them at Toys R Us for $99. We want Max to have one, but he

insisted on a skateboard instead. By the way, they also make them

motorized. The only problem is that they cost $500!

Jodi

Re: DNA UPD test is back

> Ann,

>

> We saw both someone at the LPA campout AND a 5-yr old child without

> dwarfism get something that might be helpful to Natasha (and perhaps our

> son sometime...). It is a scooter which is getting popular for all ages,

> including at college. It is like a skateboard with a long very

> easily-adjustable handle. I'm not sure what they are called... Does

> anyone else know what I mean?

>

> Inga

>

> ------------------------------------------------------------------------

> Get a NextCard Visa, in 30 seconds!

> 1. Fill in the brief application

> 2. Receive approval decision within 30 seconds

> 3. Get rates as low as 2.9% Intro or 9.9% Fixed APR

> http://click./1/6628/1/_/229381/_/963715702/

> ------------------------------------------------------------------------

>

>

>

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FYI

UPD 7 only took 6 weeks... and it took that long because of a mess up with

the doctor who was not fimilar with this test. Even though I tried to

explain. They all have there way. It went to a genetics lab in North or

South Carolina.

Ann

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Hi...

Just for the record: It has been 15 months since the blood tests that

submitted for UPD-7 and still..no results.

The test is being conducted up at a hospital in Toronto. I am very dismayed at

the process. Have called many times, many emails...CHildren's Hospital

suggested I hire a private lab in Chicago to run the tests.

We'll see....

Katy

Mom to : 31.5 pounds!!!!!; 37.25 " !!!! (He has gained 1.25 " in 3

months---since he started GHT! Yay!) 3.5 years old.

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