Charissa's characteristics

[Guest guest]

Hi Jennie,

I'm sorry that you still don't have any answers for Lindsey. Having a

diagnosis won't necessarily change her therapy/treatment/schooling or

anything else, but for some reason it is nice to have a *name* for what

makes our kids so unique - even if they end up being as one-of-a-kind as

Charissa!

Charissa is pretty healthy now. The behavior issues are difficult now.

Her speech is pretty good - she still drops off word endings some, but

she is usually understandable. And she gets really peeved at me when I

make her repeat herself!

The doctors & I thought that as a baby and toddler Charissa really

looked RSS, but as she started GHT and Periactin those features faded

somewhat. She had all the facial features except low-set ears. She has

very slight assymetry. Dr. H. gave a few reasons she didn't think

Charissa was RSS. Charissa has the curved pinkies. Dr. H. said (on the

bone age x-ray of the hand) that the bones of that middle section of the

pinkies that makes the finger curve are deformed differently on Charissa

than they are on RSS kids' pinkies. Charissa's hairline is lower than

normal on her neck on the back of her head. That has something to do

with an interuterine condition, but I forget what that was about.

Charissa has a " thickening " at the base of her neck / top of her

shoulders at the neck. It appears like extra-big muscle in that area,

which isn't a part of RSS. She has Kyphosis - rounded posture - which

makes this thickened area more pronounced. Other reasons were:

Charissa's developmental delays without a history of hyperglycemia (way

back when Charissa was born - 1984 - the doctors didn't talk about

glycemic episodes, so we didn't test for ketones (didn't know there was

such a thing), and I don't know if she spilled ketones or not. She *did*

have night sweats, so I'll never know for sure!) Charissa also has

hyperextensive knees and elbows (they bend backwards 30 degrees farther

than they should). She has dislocated her left elbow 4 times since 1997.

And the last reason Dr. H. gave was Charissa's submucosal cleft palate

that had been repaired when she was 10 years old, which is not a part of

RSS. However, since we saw Dr. H. in July of 2000 there have been RSS

cases with submucosal cleft.

There are other features that Dr. H. didn't note. Charissa has a fairly

deep sacral dimple - dimple at the base of her spine. The neurologist

noted that she has long, thin feet and hands, with long fingers and

comparitively larger joints. Her fingers can't lay flat, they lift up at

the 2nd joint from the tip - oh, I can't find the term for it, but kids

with CP have it. She has low muscle tone and less muscle bulk than

normal. Her rapid repetitive movements are mildly slow, and her deep

tendon reflexes are exaggerated. He said she has bracycephaly (defined

as " A disproportionate shortness of the head " ) and some postural

kyphosis. Charissa has small teeth, and baby teeth that came in late and

stayed in forever - 8 of them were ankylosed so badly that she had oral

surgery to remove them. Permanent teeth came in very slowly - one of her

permanent molars still isn't all the way in and she is 19 years old! She

is missing some permanent teeth (3 of them are wisdom teeth, which isn't

a bad thing!) and had bad enamal on some of them when they came in. Her

eyes are slightly wider apart than normal, she had Strabismus during

early-elementary years, and the neurologist noted that she still has

Nystagmus (involuntary, rapid movement of the eyeball). Her gait isn't

smooth, and when she runs she sometimes looks as if she is flying - arms

bent up at the elbows, hands turned outward. It is " poor motor planning "

- her brain can't keep track of what her extremities are doing all the

time. She had trouble with crossing-the-midline issues. She has slightly

small ears, and was born with dimples in both earlobes (they look

pierced but they aren't). And she still has a " pre-teen figure " - thick

through the waist, not much development on top. (Most people think my

normal 15 year old daughter, who is 5 ft 6 in., is the older one and

Charissa is my younger one!)

I previously talked about Charissa's developmental delays. Charissa also

has some OCD issues and sensory issues. When we went to Disney theme

parks the 3-D movies were torture to her - she had to cover her eyes &

ears, it was horrible. Too much sensory stimulation. She can't stand the

beeping of the kitchen timer built into our range and microwave, or the

clicking of the turn signals in the car or school bus, the sounds of

people chewing, swallowing, or creaking chairs. Singing or humming in

the car or in our house is not allowed in her book - unless she is doing

it! But she is usually able to control her comments in public, or when

riding in someone *else's* car! She collects odd things too, and can't

throw old things away. She fixates on ideas & gets *really* upset if we

can't do what she has been planning in her mind. She is easily

irritated, doesn't initiate conversation much at home & gets angry when

we ask basic conversation-starter type questions. In public she is

cheerful, pleasant, talkative, friendly, helpful, outgoing.... sigh. I

know, it sounds like a " typical " teen, but believe me, she goes way

beyond typical anything! I used a mini-cassette recorder to tape some of

her at-home behavior, and our counselor has never heard anything like

it: a mixture of 2 year old temper tantrum, pre-teen attitude, with a

pinch of adolescent behavior thrown in, along with being totally

unreasonable. She has some memory issues too, that may or may not be

getting worse. We go back to the neurologist later this summer to talk

to him about it.

Well it is getting late & I can't think of what else you might want to

know. Just putting these thoughts on paper have me exhausted. I hope

this info helps - let me know if you have any other questions. It is

interesting to me that there is some research being done connecting RSS

with a problem with chromosome 17, but it is a different section than

where Charissa's deletion is located!

in Alaska

< Re: Re: Re: Size -Charissa

Thanks for that information!

Lindsey's had the last test done, and it was negative. I couldn't

believe

it.

You have been thorough alot,I'm glad you finally got the real diagnoses.

How

is her health and her speech? In what way, did she not have the RSS

look?

Jennie

[Guest guest]

thank you so much for writing all that down, I understand the feeling

of exhaustion getting it all out.

I would love to see a picture of her as a baby or small child, and one now!

I'm sensing that's not going to happen though lol!

I think I have such a need to find out why or what else does Lindsey have

because my 10 year old is also a special Ed child. He looked syndromy to me when

he was younger, but he such handsome boy now, but his comprehension is low and

he very learning disabled. With his problems and Lindsey's I feel very

strongly there is a connection. Even though there not the same at all. He's a

big

boy and Lindsey's small, and she has different problems then he does, but

somehow there connected. Its got to be.

RSS and what else? the search goes on)

Jennie

[Guest guest]

Hi Jennie,

Wow, now I understand your quest to get some answers for Lindsey! You

are an amazing person to be able to keep tabs on all that comes with

having 2 very differerent special needs kids! Hang in there, and keep

asking questions - sooner or later some medical professional is bound to

have an " ah-ha! " moment! I have a friend who is a school psych. She has

4 kids, and when I told her I don't think I could have dealt with 4 kids

she said " You have 4 kids too, just in 2 bodies! " because of Charissa's

medical & behavior issues & learning problems, and my younger one being

healthy but on the gifted end of the educational scale. I got a good

laugh out of that one : )

I am hesitant to post pictures of Charissa on this site, just because we

are always running out of space for photos and I feel that the space

should be devoted to those who truly have RSS. But my husband has a

scanner in his home office, if you want, I could scan a few photos &

e-mail them to you. The hard part would be choosing the photos -

Charissa is the 1st grandchild on my side of the family and we lived

thousands of miles away from all the relatives, so I took weekly photos

for her first year and then monthly photos for many years after that! I

have 5 photo albums of photos of her, plus school pictures and yearly

professional family photos.....but boy, can I document anything the

doctor wants to see (ha!). You can let me know off-list if you want to

see some photos, just e-mail me at ischool2 @faithmail.com (no space, of

course).

in Alaska

< Re: Charissa's characteristics

thank you so much for writing all that down, I understand the

feeling

of exhaustion getting it all out.

I would love to see a picture of her as a baby or small child, and one

now!

I'm sensing that's not going to happen though lol!

I think I have such a need to find out why or what else does Lindsey

have

because my 10 year old is also a special Ed child. He looked syndromy to

me when

he was younger, but he such handsome boy now, but his comprehension is

low and

he very learning disabled. With his problems and Lindsey's I feel very

strongly there is a connection. Even though there not the same at all.

He's a big

boy and Lindsey's small, and she has different problems then he does,

but

somehow there connected. Its got to be.

RSS and what else? the search goes on)

Jennie

[Guest guest]

. I would love to hear more about when your ready to talk

about it!

Please send me some pictures of Charissa. Thanks! wasborngmama@...

Jennie

[Guest guest]

- Hi this is , wow this just takes my breath away... I feel

the same way as far as Is it or not or this and something else... I

have been through so much more with than I think just RSS he

has so many charecteristics but so much more problems as well, I will

have to explain it sometime cause it is so much like your children..

I will talk to ya later,

-- In RSS-

Support , " R " <ischool2@f...> wrote:

> Hi Jennie,

> Wow, now I understand your quest to get some answers for Lindsey!

You

> are an amazing person to be able to keep tabs on all that comes with

> having 2 very differerent special needs kids! Hang in there, and

keep

> asking questions - sooner or later some medical professional is

bound to

> have an " ah-ha! " moment! I have a friend who is a school psych. She

has

> 4 kids, and when I told her I don't think I could have dealt with 4

kids

> she said " You have 4 kids too, just in 2 bodies! " because of

Charissa's

> medical & behavior issues & learning problems, and my younger one

being

> healthy but on the gifted end of the educational scale. I got a good

> laugh out of that one : )

>

> I am hesitant to post pictures of Charissa on this site, just

because we

> are always running out of space for photos and I feel that the space

> should be devoted to those who truly have RSS. But my husband has a

> scanner in his home office, if you want, I could scan a few photos &

> e-mail them to you. The hard part would be choosing the photos -

> Charissa is the 1st grandchild on my side of the family and we lived

> thousands of miles away from all the relatives, so I took weekly

photos

> for her first year and then monthly photos for many years after

that! I

> have 5 photo albums of photos of her, plus school pictures and

yearly

> professional family photos.....but boy, can I document anything the

> doctor wants to see (ha!). You can let me know off-list if you want

to

> see some photos, just e-mail me at ischool2 @faithmail.com (no

space, of

> course).

>

> in Alaska

>

>

> < Re: Charissa's characteristics

>

> thank you so much for writing all that down, I understand the

> feeling

> of exhaustion getting it all out.

> I would love to see a picture of her as a baby or small child, and

one

> now!

> I'm sensing that's not going to happen though lol!

>

> I think I have such a need to find out why or what else does Lindsey

> have

> because my 10 year old is also a special Ed child. He looked

syndromy to

> me when

> he was younger, but he such handsome boy now, but his comprehension

is

> low and

> he very learning disabled. With his problems and Lindsey's I feel

very

> strongly there is a connection. Even though there not the same at

all.

> He's a big

> boy and Lindsey's small, and she has different problems then he

does,

> but

> somehow there connected. Its got to be.

> RSS and what else? the search goes on)

>

> Jennie

>

>

>

>

>

>

[Guest guest]

Hi Jennie,

We were out of town for several days & I just saw this message today.

Still trying to play catch-up - will try to send some photos soon!

in Alaska (where the halibut fishing was *awesome* last weekend!)

< Re: Re:Charissa's characteristics

. I would love to hear more about when your ready to

talk

about it!

Please send me some pictures of Charissa. Thanks!

wasborngmama@...

Jennie