Re: physical anomalies question

[Guest guest]

not answering my own post here but wanted to add another question...

when it says dimples in the posterior shoulders and hips...can anyone tell

me more about where these are located on the shoulders and hips? I ask

because True has two dimples at the base of his spine...on the sides of it. He

also has a sacral dimple that is fine.

When we did see the geneticist she noted dimples on his wrists and

knees...actually I htink they might have only been on his small side but I have

to

check to remember correctly.

we see her in April...and I am still waiting for an appt for the end of

February for endo...uggh...why can't people just do their jobs?

anyway, thanks a bunch!

deb

[Guest guest]

Hi! I went ahead and posted some pictures of one of Summer's

incurved pinkies to give you an idea what it looks like. It is in

the album labled 'Autumn and Summer'

Hope this helps!

mom to Autumn RSS 2 yrs, Summer SGA possible RSS 7 mos,

Ocean 3, Skye 7

>

> Hey there

>

> I was looking at True's pinkies...and I can't really tell that they

curve

> inward (and of course he's too young for me to tell him to hold his

hands out

> straight) but...when you straighten his fingers one by one and feel

the

> bones...the other three fingers go perfectly straight but the

pinkie the bones

> don't go all the way flat. Its especially on the joint closest to

the hand.

>

> Also, ever since true was a newborn, he has had these big tissue-

type lumps

> in his instep. I haven't seen them mentioned with RSS but the docs

can't

> figure them out. They are on both feet but one is bigger then the

other but

> then again...its that way throughout his whole body (the

asymetry).

>

> any comments?

>

> deb...mom to four fab adopted kiddos... (07.04.96-05.26.03)

with

> Mitochondrial Myopathy...G, 6, with High Functioning Autism,

Hypoglycemia and

> Precocious Puberty...B, 4, with VERY mild Cerebral Palsy...and

True 1yo, with

> Neuromotor Disorder, Hypoglycemia, Myoclonus, ulcers, undiagnosed

GI problems

> plus severe food allergies (Eggs, Peanut, Milk, Soy, Corn, Rice,

Oats and

> Crab/Neocate-only), Plagiocephaly and Dysphagia....Married for 12

years to F--one

> swell guy!_ www.caringbridge.org/tn/wells/_

> (http://www.caringbridge.org/tn/wells/)

(http://www.lifeofloveproject.org/)

>

>

>

>

[Guest guest]

Hi Deb,

I would be interested to hear what Dr. Harbison would say about

True. Charissa also had many / most RSS characteristics, and our

early geneticists & endos all thought she was RSS. But one of the

reasons Dr Harbison said Charissa does not have RSS is that she had

too many other unusual characteristics that just didn't fit RSS.

One of the " extras " is dimples in her earlobes - it looks like she

has pierced ears. Dr. H. also noted that while Charissa does have

curved pinkies, she could tell by the x-ray that they weren't the

same as RSS curved pinkies - something about the bones being shaped

differently than in RSS. Her fingers also do not go completely flat

in the joint closest to the hand.

In researching genetics disorders (during the 2 years Charissa was

without a definite diagnosis) I discovered MANY that had similar

characteristics to RSS but also had additional characteristics too.

I was SURE that Charissa had Kabuki Syndrome, but that was another

one that fit her on paper, but she just didn't have " the look " . The

genetics team thought for sure that she had VCFS, but genetic

testing ruled that out too. It took several rounds of genetic

testing to finally find her chromosome deletion. Having a new

diagnosis when Charissa was 17 was difficult for me to adjust to,

but looking back, if we had had that diagnosis when she was a baby

she would have had the same treatment plan - we were dealing with

the individual issues. And, in essence, that is what everyone on

this list is doing since every child their own combination of

issues.

in Alaska, mom to Charissa (not RSS, but all the issues plus

some)

>

> Hey there

>

> I was looking at True's pinkies...and I can't really tell that

they curve

> inward (and of course he's too young for me to tell him to hold

his hands out

> straight) but...when you straighten his fingers one by one and

feel the

> bones...the other three fingers go perfectly straight but the

pinkie the bones

> don't go all the way flat. Its especially on the joint closest to

the hand.

>

> Also, ever since true was a newborn, he has had these big tissue-

type lumps

> in his instep. I haven't seen them mentioned with RSS but the

docs can't

> figure them out. They are on both feet but one is bigger then the

other but

> then again...its that way throughout his whole body (the

asymetry).

>

> any comments?

>

> not answering my own post here but wanted to add another

question...

>

> when it says dimples in the posterior shoulders and hips...can

anyone tell

> me more about where these are located on the shoulders and hips?

I ask

> because True has two dimples at the base of his spine...on the

sides of it. He

> also has a sacral dimple that is fine.

>

> When we did see the geneticist she noted dimples on his wrists

and

> knees...actually I htink they might have only been on his small

side but I have to

> check to remember correctly.

>

> we see her in April...and I am still waiting for an appt for the

end of

> February for endo...uggh...why can't people just do their jobs?

>

> anyway, thanks a bunch!

> deb

>

>

>

[Guest guest]

Thank you for posting those pictures...his curve is slight but you can

definitely feel it. It helps to see things! I am much better at seeing

something

than trying to visualize it.

deb...mom to four fab adopted kiddos... (07.04.96-05.26.03) with

Mitochondrial Myopathy...G, 6, with High Functioning Autism, Hypoglycemia and

Precocious Puberty...B, 4, with VERY mild Cerebral Palsy...and True 1yo, with

Neuromotor Disorder, Hypoglycemia, Myoclonus, ulcers, undiagnosed GI problems

plus severe food allergies (Eggs, Peanut, Milk, Soy, Corn, Rice, Oats and

Crab/Neocate-only), Plagiocephaly and Dysphagia....Married for 12 years to

F--one

swell guy!_ www.caringbridge.org/tn/wells/_

(http://www.caringbridge.org/tn/wells/) (http://www.lifeofloveproject.org/)

[Guest guest]

> >

> > Hey there

> >

> > I was looking at True's pinkies...and I can't really tell that

they

> curve

> > inward (and of course he's too young for me to tell him to hold

his

> hands out

> > straight) but...when you straighten his fingers one by one and

feel

> the

> > bones...the other three fingers go perfectly straight but the

> pinkie the bones

> > don't go all the way flat. Its especially on the joint closest

to

> the hand.

> >

> > Also, ever since true was a newborn, he has had these big tissue-

> type lumps

> > in his instep. I haven't seen them mentioned with RSS but the

docs

> can't

> > figure them out. They are on both feet but one is bigger then

the

> other but

> > then again...its that way throughout his whole body (the

> asymetry).

> >

> > any comments?

> >

> > deb...mom to four fab adopted kiddos... (07.04.96-

05.26.03)

> with

> > Mitochondrial Myopathy...G, 6, with High Functioning Autism,

> Hypoglycemia and

> > Precocious Puberty...B, 4, with VERY mild Cerebral Palsy...and

> True 1yo, with

> > Neuromotor Disorder, Hypoglycemia, Myoclonus, ulcers,

undiagnosed

> GI problems

> > plus severe food allergies (Eggs, Peanut, Milk, Soy, Corn, Rice,

> Oats and

> > Crab/Neocate-only), Plagiocephaly and Dysphagia....Married for 12

> years to F--one

> > swell guy!_ www.caringbridge.org/tn/wells/_

> > (http://www.caringbridge.org/tn/wells/)

> (http://www.lifeofloveproject.org/)

> >

> >

> >

> >

[Guest guest]

Chris

What did they come up with for Charissa, what was the name again? It's

interesting you should mention the ear dimples. Adam has one. And his pinkies

are not curved but I remember an x-ray he had done one time, someone asking me

if he had broken that baby finger one time because the bone was curved, but the

finger is not.

Strange. However, Dr. H. has said he definitely has RSS because he had " the

look " .

Debby

Re: physical anomalies question

Hi Deb,

I would be interested to hear what Dr. Harbison would say about

True. Charissa also had many / most RSS characteristics, and our

early geneticists & endos all thought she was RSS. But one of the

reasons Dr Harbison said Charissa does not have RSS is that she had

too many other unusual characteristics that just didn't fit RSS.

One of the " extras " is dimples in her earlobes - it looks like she

has pierced ears. Dr. H. also noted that while Charissa does have

curved pinkies, she could tell by the x-ray that they weren't the

same as RSS curved pinkies - something about the bones being shaped

differently than in RSS. Her fingers also do not go completely flat

in the joint closest to the hand.

In researching genetics disorders (during the 2 years Charissa was

without a definite diagnosis) I discovered MANY that had similar

characteristics to RSS but also had additional characteristics too.

I was SURE that Charissa had Kabuki Syndrome, but that was another

one that fit her on paper, but she just didn't have " the look " . The

genetics team thought for sure that she had VCFS, but genetic

testing ruled that out too. It took several rounds of genetic

testing to finally find her chromosome deletion. Having a new

diagnosis when Charissa was 17 was difficult for me to adjust to,

but looking back, if we had had that diagnosis when she was a baby

she would have had the same treatment plan - we were dealing with

the individual issues. And, in essence, that is what everyone on

this list is doing since every child their own combination of

issues.

in Alaska, mom to Charissa (not RSS, but all the issues plus

some)

>

> Hey there

>

> I was looking at True's pinkies...and I can't really tell that

they curve

> inward (and of course he's too young for me to tell him to hold

his hands out

> straight) but...when you straighten his fingers one by one and

feel the

> bones...the other three fingers go perfectly straight but the

pinkie the bones

> don't go all the way flat. Its especially on the joint closest to

the hand.

>

> Also, ever since true was a newborn, he has had these big tissue-

type lumps

> in his instep. I haven't seen them mentioned with RSS but the

docs can't

> figure them out. They are on both feet but one is bigger then the

other but

> then again...its that way throughout his whole body (the

asymetry).

>

> any comments?

>

> not answering my own post here but wanted to add another

question...

>

> when it says dimples in the posterior shoulders and hips...can

anyone tell

> me more about where these are located on the shoulders and hips?

I ask

> because True has two dimples at the base of his spine...on the

sides of it. He

> also has a sacral dimple that is fine.

>

> When we did see the geneticist she noted dimples on his wrists

and

> knees...actually I htink they might have only been on his small

side but I have to

> check to remember correctly.

>

> we see her in April...and I am still waiting for an appt for the

end of

> February for endo...uggh...why can't people just do their jobs?

>

> anyway, thanks a bunch!

> deb

>

>

>

[Guest guest]

Hi Debby,

Charissa's official diagnosis is:

46 xxish del(17)(13.3) LIS1+, TelVysion17p-

The long name basically means she is missing a small bit of the " p " arm of the

17th chromosome, at section 13.3 which is right at the tip.

It doesn't have a name, as she is so far the only one documented with this

exact diagnosis. There have been many kids documentd missing more genetic

material in this area, and the diagnosis then is -Dieker Syndrome - but

they have MANY more problems than Charissa and usually die during infancy or

childhood. MDS is also inherited genetically, and Charissa's deletion is not -

both Dave & I have normal chromosomes.

I didn't know that Adam has an ear dimple! That is funny about his curved

pinkies on the x-ray. Now that I think about it, I think Dr. H. said Charissa's

middle bone (out of the 3 bones of her pinky) is what looks different than a RSS

curved pinky. Instead of a curved bone, Charissa's is shaped differently -

longer on one side than the other (more like a trapezoid than a rectangle?),

which is what makes the finger curve. The other " non-RSS " characteristics that

Dr. H. noticed that Charissa has are mostly subtle things that other doctors

didn't notice until I showed them Dr. H's report. She is amazing! And she

was right with her diagnosis of Charissa - she said she " never saw or heard of

anyone else like this - Charissa is one-of-a-kind " !

in Alaska

RSS-Support wrote:

Date: Wed, 8 Feb 2006 16:10:09 -0500

From: " Deb "

Subject: Re: Re: physical anomalies question

Chris

What did they come up with for Charissa, what was the name again? It's

interesting you should mention the ear dimples. Adam has one. And his pinkies

are not curved but I remember an x-ray he had done one time, someone asking me

if he had broken that baby finger one time because the bone was curved, but the

finger is not.

Strange. However, Dr. H. has said he definitely has RSS because he had " the

look " .

Debby

Re: physical anomalies question

Hi Deb,

I would be interested to hear what Dr. Harbison would say about

True. Charissa also had many / most RSS characteristics, and our

early geneticists & endos all thought she was RSS. But one of the

reasons Dr Harbison said Charissa does not have RSS is that she had

too many other unusual characteristics that just didn't fit RSS.

One of the " extras " is dimples in her earlobes - it looks like she

has pierced ears. Dr. H. also noted that while Charissa does have

curved pinkies, she could tell by the x-ray that they weren't the

same as RSS curved pinkies - something about the bones being shaped

differently than in RSS. Her fingers also do not go completely flat

in the joint closest to the hand.

In researching genetics disorders (during the 2 years Charissa was

without a definite diagnosis) I discovered MANY that had similar

characteristics to RSS but also had additional characteristics too.

I was SURE that Charissa had Kabuki Syndrome, but that was another

one that fit her on paper, but she just didn't have " the look " . The

genetics team thought for sure that she had VCFS, but genetic

testing ruled that out too. It took several rounds of genetic

testing to finally find her chromosome deletion. Having a new

diagnosis when Charissa was 17 was difficult for me to adjust to,

but looking back, if we had had that diagnosis when she was a baby

she would have had the same treatment plan - we were dealing with

the individual issues. And, in essence, that is what everyone on

this list is doing since every child their own combination of

issues.

in Alaska, mom to Charissa (not RSS, but all the issues plus

some)

>

> Hey there

>

> I was looking at True's pinkies...and I can't really tell that

they curve

> inward (and of course he's too young for me to tell him to hold

his hands out

> straight) but...when you straighten his fingers one by one and

feel the

> bones...the other three fingers go perfectly straight but the

pinkie the bones

> don't go all the way flat. Its especially on the joint closest to

the hand.

>

> Also, ever since true was a newborn, he has had these big tissue-

type lumps

> in his instep. I haven't seen them mentioned with RSS but the

docs can't

> figure them out. They are on both feet but one is bigger then the

other but

> then again...its that way throughout his whole body (the

asymetry).

>

> any comments?

>

> not answering my own post here but wanted to add another

question...

>

> when it says dimples in the posterior shoulders and hips...can

anyone tell

> me more about where these are located on the shoulders and hips?

I ask

> because True has two dimples at the base of his spine...on the

sides of it. He

> also has a sacral dimple that is fine.

>

> When we did see the geneticist she noted dimples on his wrists

and

> knees...actually I htink they might have only been on his small

side but I have to

> check to remember correctly.

>

> we see her in April...and I am still waiting for an appt for the

end of

> February for endo...uggh...why can't people just do their jobs?

>

> anyway, thanks a bunch!

> deb

>

>

>

[Guest guest]

Thanks for that Chris.

As I said, I know Dr. H. just looked at Adam for a blink of an eye and said

" he's RSS " and that was that. But I am always interested in different things.

It's funny what rang a bell in my head was when you said it looks like Charissa

has pierced ears---that's exactly what one of Adam's ear lobes looks like!!

Isn't that something!

Thanks again

Debby

Re: physical anomalies question

Hi Deb,

I would be interested to hear what Dr. Harbison would say about

True. Charissa also had many / most RSS characteristics, and our

early geneticists & endos all thought she was RSS. But one of the

reasons Dr Harbison said Charissa does not have RSS is that she had

too many other unusual characteristics that just didn't fit RSS.

One of the " extras " is dimples in her earlobes - it looks like she

has pierced ears. Dr. H. also noted that while Charissa does have

curved pinkies, she could tell by the x-ray that they weren't the

same as RSS curved pinkies - something about the bones being shaped

differently than in RSS. Her fingers also do not go completely flat

in the joint closest to the hand.

In researching genetics disorders (during the 2 years Charissa was

without a definite diagnosis) I discovered MANY that had similar

characteristics to RSS but also had additional characteristics too.

I was SURE that Charissa had Kabuki Syndrome, but that was another

one that fit her on paper, but she just didn't have " the look " . The

genetics team thought for sure that she had VCFS, but genetic

testing ruled that out too. It took several rounds of genetic

testing to finally find her chromosome deletion. Having a new

diagnosis when Charissa was 17 was difficult for me to adjust to,

but looking back, if we had had that diagnosis when she was a baby

she would have had the same treatment plan - we were dealing with

the individual issues. And, in essence, that is what everyone on

this list is doing since every child their own combination of

issues.

in Alaska, mom to Charissa (not RSS, but all the issues plus

some)

>

> Hey there

>

> I was looking at True's pinkies...and I can't really tell that

they curve

> inward (and of course he's too young for me to tell him to hold

his hands out

> straight) but...when you straighten his fingers one by one and

feel the

> bones...the other three fingers go perfectly straight but the

pinkie the bones

> don't go all the way flat. Its especially on the joint closest to

the hand.

>

> Also, ever since true was a newborn, he has had these big tissue-

type lumps

> in his instep. I haven't seen them mentioned with RSS but the

docs can't

> figure them out. They are on both feet but one is bigger then the

other but

> then again...its that way throughout his whole body (the

asymetry).

>

> any comments?

>

> not answering my own post here but wanted to add another

question...

>

> when it says dimples in the posterior shoulders and hips...can

anyone tell

> me more about where these are located on the shoulders and hips?

I ask

> because True has two dimples at the base of his spine...on the

sides of it. He

> also has a sacral dimple that is fine.

>

> When we did see the geneticist she noted dimples on his wrists

and

> knees...actually I htink they might have only been on his small

side but I have to

> check to remember correctly.

>

> we see her in April...and I am still waiting for an appt for the

end of

> February for endo...uggh...why can't people just do their jobs?

>

> anyway, thanks a bunch!

> deb

>

>

>