Latest on Santi, providence brace, theratogs

[Guest guest]

Hi everyone, just thought I would give you the latest on Santiago. Just got

back from Barcelona with Dr. Ventura and three other specialists . The great

news is that the Providence brace is doing just what we hoped it would, its

working... His official curve is at 38 degrees without the brace and 18 in the

brace which is great!!!!. So the brace is holding him, straightening him and on

top of it all, it is comfortable for him to wear, not one problem with it. We

casted Santi a couple of times and went from 50 degrees to 28, which was

incredible.. the casting literally saved us from a very early intervention. Dr.

Ventura mentioned something interesting, have any of you heard of having a

scoliosis that is not idiopathic or congenital but " symptomatic " . He is

referring to Santis lack of muscles in his back at birth, but slowly we are

recooperating them, thus it is holding his scoliosis.. He says the MRI will

confirm a lot, but he doesn´t feel that

Santi falls into either catagory, just curious what you all thought of that

interesting point of view..The PT did say that abdominales and lunges are

essential for kids like him, also she wants us to velcro his feet to the floor

(now that didn´t come out the way it should have, although sometimes I would

like to literally velcro him to the floor to slow him down!!!) She said that

stability and equilibrium are also essential with the curves, because they tend

to lean to one side more then the other. Thus this motion platform is literally

a piece of wood with velcro straps nailed into it and you place his feet in them

so they cannot move, make him do reaches with his hands, waist etc, but not

letting him move his feet, sounds easier then it really is...I hadn´t realized

how much compensation he has to his left side. The Pt also specializes in

training of the Theratogs in Spain..She put them all over him. But we realized

that he now is too strong for

them to be much use, and I expected to see more improvement of his lordosis,

but it didn´t do much. He did get more stability in them, but not much else..

Even she was a little disappointed in how little they seemed to help him. I

thought they would work well for him, but right now, only in stability, not sure

I want to spend 600 euros on something that doesn´t do too much.. That is all

the news for now on Santiago. Hoping and praying that all the other kids out

their continue getting better and that the future holds a lot of new and better

things for them.

Sincerely,

Kelli and Santiago

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.>

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html

[Guest guest]

Hi Kelli,

Congratulations on your great news with Santiago!!!! You actually raised a

very interesting point for me with the mention of " symptomatic " scoliosis. My

daughter has infantile scoli from birth and some of her docs from NYU are still

referring to it as congenital and not ideopathic. We are actually seeing a

geneticist tomorrow as well as her neurologist for further evaluation. When I

spoke to the nurse practitioner several days ago, she sort of mentioned that the

scoli has to be caused by something.... if not a spinal abnormality, then

perhaps her position in utero could be the " cause " . Even in cast, Noelle does

tend to lean to one side and I have often wondered if she would benefit from

some type of PT and will mention these exercises to the docs tomorrow. Thanks

for the great info and good luck with the brace!!!! Steph

kelli peasley wrote:

Hi everyone, just thought I would give you the latest on Santiago.

Just got back from Barcelona with Dr. Ventura and three other specialists . The

great news is that the Providence brace is doing just what we hoped it would,

its working... His official curve is at 38 degrees without the brace and 18 in

the brace which is great!!!!. So the brace is holding him, straightening him and

on top of it all, it is comfortable for him to wear, not one problem with it. We

casted Santi a couple of times and went from 50 degrees to 28, which was

incredible.. the casting literally saved us from a very early intervention. Dr.

Ventura mentioned something interesting, have any of you heard of having a

scoliosis that is not idiopathic or congenital but " symptomatic " . He is

referring to Santis lack of muscles in his back at birth, but slowly we are

recooperating them, thus it is holding his scoliosis.. He says the MRI will

confirm a lot, but he doesn´t feel that

Santi falls into either catagory, just curious what you all thought of that

interesting point of view..The PT did say that abdominales and lunges are

essential for kids like him, also she wants us to velcro his feet to the floor

(now that didn´t come out the way it should have, although sometimes I would

like to literally velcro him to the floor to slow him down!!!) She said that

stability and equilibrium are also essential with the curves, because they tend

to lean to one side more then the other. Thus this motion platform is literally

a piece of wood with velcro straps nailed into it and you place his feet in them

so they cannot move, make him do reaches with his hands, waist etc, but not

letting him move his feet, sounds easier then it really is...I hadn´t realized

how much compensation he has to his left side. The Pt also specializes in

training of the Theratogs in Spain..She put them all over him. But we realized

that he now is too strong for

them to be much use, and I expected to see more improvement of his lordosis, but

it didn´t do much. He did get more stability in them, but not much else.. Even

she was a little disappointed in how little they seemed to help him. I thought

they would work well for him, but right now, only in stability, not sure I want

to spend 600 euros on something that doesn´t do too much.. That is all the news

for now on Santiago. Hoping and praying that all the other kids out their

continue getting better and that the future holds a lot of new and better things

for them.

Sincerely,

Kelli and Santiago

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.>

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html

[Guest guest]

Steph,

We also have seen a neuro/genetics specialist for Sophia. They did every

blood/urine test possible and everything came back negative. They did the EMG

(pin sticks and little shocks to test nerve reception) and it was normal. They

said they still think there may be some type of muscular disorder or metabolic

issue but they don't know what it is. The only test left is a muscle biopsy

where they take a significant sample from her thigh (but she has to be 2 yrs old

to do it). That was where I drew the line. Her muscle tone has continued to

improve (very hypotonic at 6 months and now at 18 months almost normal, just

slightly low tone), she still has one side weaker (left), her left thoracic

curve has improved from almost 40 degrees down to 11 degrees with Metha casting,

no recent cases of pneumonia, etc. So overall, I think she is doing great and am

not going to put her (or us) through any more testing. I asked them if the

results of the biopsy test would change her treatment options (no), would they

be able to do something for her if there was an issue (no), what was the point

then? (they said so we could prepare ourselves for the future). So then I asked

what they meant by " future " ? Could this shorten her life span, would she require

special care, etc. (that is when I was really freaking out in the office and

starting to tear up)? They said there is very wide spectrum for muscular

disorders from those that live totally normal, healthy lives and you would never

know anything was wrong to those that end up in wheelchairs by highschool and

life expectancy is 30s. I know that you will make the right decision for Noelle,

but just wanted to share our experience. By the way, Sophia did not even cry

when they did the EMG. Good luck and please let us know what you find out from

the test results.

Tina

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.>

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html

[Guest guest]

Hi ,

Try not to freak out over everything they told you.........you just don't know

yet.

's visit with a geneticist was just an observation type visit. She did not

feel he needed any testing. too had torticollis, plagiocephaly and facial

asymmetry. He never had PT or wore a helmet. Maybe he should have, but we

never went that direction. Once he starting casting his torticollis improved

tremendously.

also had an eye exam.......can't remember the specifics of it, but it came

out fine.

After was done with casting he was evaluated for PT, but did not show signs

of needing that. All they did is give us exercises to do here at home. Those

soon were done away with because he really did not need them.

Anyway, I think I tend to agree if it were positioning in utero, why didn't it

get better once he was born. Who knows???

I know where goes for treatment, ish Rite,they have found out through

research a genetic link.

Here is a link to that article discussing their findings:

http://www.tsrhc.org/default.asp?contentID=59

So much to wonder about, but I try not to drive myself crazy about it.

Especially not until I actually see a real reason for all the testing. So far

has not had any issues where we feel he needs any testing done.

Good luck on what ever you decide for Noelle. Keep us posted.

Oh and BTW, no I do not think you are nuts.

Take care,

Tasha

Kauffunger wrote:

Hi Tasha,

We saw Noelle's neuro and geneticist yesterday.... What a LONG day!!!!!!!

Her neuro eval was great.... I asked her to prescribe some PT for Noelle and

she thought it was a good idea due to her torticollis, which has improved,but

she said it couldn't hurt so why not? And I agreed. We go back in 6 months.

The geneticist's visit confused/relieved /scared me more all at the same

time!!!! He and 2 of his staff memebers were present and they all agree that

Noelle is physically very strong, developmentally at or above age level, and

advanced asfar as verbal/communication skills, etc. They were a bit puzzled

about how to proceed with her because other than the scoli, torticollis and mild

hydroplagiocephaly, she has no other issues. They are running some blood tests

to rule out certain things that I don't completely understand. One is on marker

22 for cpk to rule out the leakage of a certain muscular protein, which they

don't think she has and a few other tests that they

are pretty sure will come back negative. They want her to have an eye exam to

look at her optical nerves for some possible clues as to the cause of her scoli,

so we will schedule that . He says we may check with her neuro to do a special

test where tiny needles are placed at certain points on the body and check the

various muscles and nerves on the right and left sides of the body. This test

could tell us if the muscles on one side of her body are devoloping faster than

the other side or if it's an issue where the nerves on one side of the body are

stronger than the other, which could cause the scoli. I asked him if it could

just be a positional issue in utero and he said that it could, but the fact that

the scoli was getting worse leads him to think it was more likely to be

something else that was still affecting the spine. He did ask me about my

uterus! And if Noelle was a twin, if I had fibroids, etc.... Anything that

would inhibit her movement inside of me. I

have no uterine issues, but I never felt her rolling around in there....

just kicking and punching mostly! I'm worried that if the cause is muscular,

that once the cast and brace come off, the scoli could return again. I'm going

to have to ask Dr. S about that, too, in June. What do you think? He seems to

think if the scoli was caused by uterine positioning that it shouldn't have

progressed, but I'm not so sure..... And, at what point do I stop with the

testing? So, on the one hand, I feel great that Noelle is doing so well right

now, but scared that there still may be some underlying cause that could worsen

as she ages. I'm actually terrified that if one side continues to develop

faster, that she will become mishapen as she grows! Do you think I'm nuts!?

The truth is that her plagiocephaly is so mild that only expert-type docs even

pick it up.... Her pediatrician and some orthos have actually said they don't

see assymetry in her face..... Just seems like

there is always something more to test!!!!! Steph

Tasha Fontenot wrote:

Hi ,

When saw a geneticist, she felt it was due to his positioning in utero.

is a twin. For 3 months he literally stayed in 1 spot in my belly. He moved

his arms and legs, but was head down in the birth canal ready for the world. He

gave his brother lots of room to move around. Anyway I have heard of several

scoli kids that their docs/geneticist thought the same thing......positioning in

utero.

I'll be anxious to hear what they say about Noelle.

Tasha

Mommy of twin boys- and 3 years old

Fort Worth, Texas

is currently in a brace-8 degrees out of brace!!

Kauffunger wrote: Hi Kelli,

Congratulations on your great news with Santiago!!!! You actually raised a very

interesting point for me with the mention of " symptomatic " scoliosis. My

daughter has infantile scoli from birth and some of her docs from NYU are still

referring to it as congenital and not ideopathic. We are actually seeing a

geneticist tomorrow as well as her neurologist for further evaluation. When I

spoke to the nurse practitioner several days ago, she sort of mentioned that the

scoli has to be caused by something.... if not a spinal abnormality, then

perhaps her position in utero could be the " cause " . Even in cast, Noelle does

tend to lean to one side and I have often wondered if she would benefit from

some type of PT and will mention these exercises to the docs tomorrow. Thanks

for the great info and good luck with the brace!!!! Steph

kelli peasley wrote:

Hi everyone, just thought I would give you the latest on Santiago. Just got

back from Barcelona with Dr. Ventura and three other specialists . The great

news is that the Providence brace is doing just what we hoped it would, its

working... His official curve is at 38 degrees without the brace and 18 in the

brace which is great!!!!. So the brace is holding him, straightening him and on

top of it all, it is comfortable for him to wear, not one problem with it. We

casted Santi a couple of times and went from 50 degrees to 28, which was

incredible.. the casting literally saved us from a very early intervention. Dr.

Ventura mentioned something interesting, have any of you heard of having a

scoliosis that is not idiopathic or congenital but " symptomatic " . He is

referring to Santis lack of muscles in his back at birth, but slowly we are

recooperating them, thus it is holding his scoliosis.. He says the MRI will

confirm a lot, but he doesn´t feel that

Santi falls into either catagory, just curious what you all thought of that

interesting point of view..The PT did say that abdominales and lunges are

essential for kids like him, also she wants us to velcro his feet to the floor

(now that didn´t come out the way it should have, although sometimes I would

like to literally velcro him to the floor to slow him down!!!) She said that

stability and equilibrium are also essential with the curves, because they tend

to lean to one side more then the other. Thus this motion platform is literally

a piece of wood with velcro straps nailed into it and you place his feet in them

so they cannot move, make him do reaches with his hands, waist etc, but not

letting him move his feet, sounds easier then it really is...I hadn´t realized

how much compensation he has to his left side. The Pt also specializes in

training of the Theratogs in Spain..She put them all over him. But we realized

that he now is too strong for

them to be much use, and I expected to see more improvement of his lordosis,

but it didn´t do much. He did get more stability in them, but not much else..

Even she was a little disappointed in how little they seemed to help him. I

thought they would work well for him, but right now, only in stability, not sure

I want to spend 600 euros on something that doesn´t do too much.. That is all

the news for now on Santiago. Hoping and praying that all the other kids out

their continue getting better and that the future holds a lot of new and better

things for them.

Sincerely,

Kelli and Santiago

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.>

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html

[Guest guest]

Steph,

My daughter was born with scoliosis, dismorfic features to her face & extra

skin under her arm when she was born. She was a mystery to the Doctors at

Westchester Medical Center (NY). This all happened in utero, she did not move

around too much during those nine months. She spent 30 days in the NICU & was

tested by nuerologist, geneticist, cardiologist, pulmonologists, orthopedists,

neurosurgeon. Then we continued after she was released, all because no one would

truly take into consideration that all this happened in utero. Ended up that all

tests came back ok. Most of the Doctors were sure that the scoliosis had to be

resulting from somthing. It is very interesting the Doctor below (Dr. Ventura

indicated that there could be another term other than ideopathic or congenital.

I so truly believe that this occurred totally in utero.

The geneticist we went to did indicate that the last sonogram (taken the day i

had my C-section) amniotic fluid was low. So he did indicate oligohydramnios

syndrome/effect (just means low fluid). This would mean that the baby would have

had little room to move around, they also took pictures of my daughter dimpples

(on her legs, arms) this indicates very little movement in utero. They did

multiple blood tests & all came back normal. Dont recall the marker 22 or eye

exam, wish i could give you more info on those.

The neurological exam; my daughter did not have that test, but i do see that

since she curves to her left there is definite compensation going on & she does

appear to be stonger w/ her right side. I have had that test myself & it does

not hurt, it just feels weird because they manipulate your nerves to make you

twich.

As mothers i think that we notice the asymetry in our childs face more than

anyone, my daughters dismorfic features have totally resolved (this was within a

few weeks) but she still has asymerty. Is it Doctor that feels that this

could not have happened in utero? I was just in the midst of mailing them all my

daughters x-rays & paper work.

My daughter has progressed (slowly) but i truly feel it was all due to

position in utero.

I have the same question/concerns as you with all this testing & the future.

Kauffunger wrote:

Hi Tasha,

We saw Noelle's neuro and geneticist yesterday.... What a LONG day!!!!!!! Her

neuro eval was great.... I asked her to prescribe some PT for Noelle and she

thought it was a good idea due to her torticollis, which has improved,but she

said it couldn't hurt so why not? And I agreed. We go back in 6 months. The

geneticist's visit confused/relieved /scared me more all at the same time!!!! He

and 2 of his staff memebers were present and they all agree that Noelle is

physically very strong, developmentally at or above age level, and advanced

asfar as verbal/communication skills, etc. They were a bit puzzled about how to

proceed with her because other than the scoli, torticollis and mild

hydroplagiocephaly, she has no other issues. They are running some blood tests

to rule out certain things that I don't completely understand. One is on marker

22 for cpk to rule out the leakage of a certain muscular protein, which they

don't think she has and a few other tests that they

are pretty sure will come back negative. They want her to have an eye exam to

look at her optical nerves for some possible clues as to the cause of her scoli,

so we will schedule that . He says we may check with her neuro to do a special

test where tiny needles are placed at certain points on the body and check the

various muscles and nerves on the right and left sides of the body. This test

could tell us if the muscles on one side of her body are devoloping faster than

the other side or if it's an issue where the nerves on one side of the body are

stronger than the other, which could cause the scoli. I asked him if it could

just be a positional issue in utero and he said that it could, but the fact that

the scoli was getting worse leads him to think it was more likely to be

something else that was still affecting the spine. He did ask me about my

uterus! And if Noelle was a twin, if I had fibroids, etc.... Anything that would

inhibit her movement inside of me. I

have no uterine issues, but I never felt her rolling around in there.... just

kicking and punching mostly! I'm worried that if the cause is muscular, that

once the cast and brace come off, the scoli could return again. I'm going to

have to ask Dr. S about that, too, in June. What do you think? He seems to think

if the scoli was caused by uterine positioning that it shouldn't have

progressed, but I'm not so sure..... And, at what point do I stop with the

testing? So, on the one hand, I feel great that Noelle is doing so well right

now, but scared that there still may be some underlying cause that could worsen

as she ages. I'm actually terrified that if one side continues to develop

faster, that she will become mishapen as she grows! Do you think I'm nuts!? The

truth is that her plagiocephaly is so mild that only expert-type docs even pick

it up.... Her pediatrician and some orthos have actually said they don't see

assymetry in her face..... Just seems like

there is always something more to test!!!!! Steph

Tasha Fontenot wrote:

Hi ,

When saw a geneticist, she felt it was due to his positioning in utero.

is a twin. For 3 months he literally stayed in 1 spot in my belly. He moved

his arms and legs, but was head down in the birth canal ready for the world. He

gave his brother lots of room to move around. Anyway I have heard of several

scoli kids that their docs/geneticist thought the same thing......positioning in

utero.

I'll be anxious to hear what they say about Noelle.

Tasha

Mommy of twin boys- and 3 years old

Fort Worth, Texas

is currently in a brace-8 degrees out of brace!!

Kauffunger wrote: Hi Kelli,

Congratulations on your great news with Santiago!!!! You actually raised a very

interesting point for me with the mention of " symptomatic " scoliosis. My

daughter has infantile scoli from birth and some of her docs from NYU are still

referring to it as congenital and not ideopathic. We are actually seeing a

geneticist tomorrow as well as her neurologist for further evaluation. When I

spoke to the nurse practitioner several days ago, she sort of mentioned that the

scoli has to be caused by something.... if not a spinal abnormality, then

perhaps her position in utero could be the " cause " . Even in cast, Noelle does

tend to lean to one side and I have often wondered if she would benefit from

some type of PT and will mention these exercises to the docs tomorrow. Thanks

for the great info and good luck with the brace!!!! Steph

kelli peasley wrote:

Hi everyone, just thought I would give you the latest on Santiago. Just got back

from Barcelona with Dr. Ventura and three other specialists . The great news is

that the Providence brace is doing just what we hoped it would, its working...

His official curve is at 38 degrees without the brace and 18 in the brace which

is great!!!!. So the brace is holding him, straightening him and on top of it

all, it is comfortable for him to wear, not one problem with it. We casted Santi

a couple of times and went from 50 degrees to 28, which was incredible.. the

casting literally saved us from a very early intervention. Dr. Ventura mentioned

something interesting, have any of you heard of having a scoliosis that is not

idiopathic or congenital but " symptomatic " . He is referring to Santis lack of

muscles in his back at birth, but slowly we are recooperating them, thus it is

holding his scoliosis.. He says the MRI will confirm a lot, but he doesn´t feel

that

Santi falls into either catagory, just curious what you all thought of that

interesting point of view..The PT did say that abdominales and lunges are

essential for kids like him, also she wants us to velcro his feet to the floor

(now that didn´t come out the way it should have, although sometimes I would

like to literally velcro him to the floor to slow him down!!!) She said that

stability and equilibrium are also essential with the curves, because they tend

to lean to one side more then the other. Thus this motion platform is literally

a piece of wood with velcro straps nailed into it and you place his feet in them

so they cannot move, make him do reaches with his hands, waist etc, but not

letting him move his feet, sounds easier then it really is...I hadn´t realized

how much compensation he has to his left side. The Pt also specializes in

training of the Theratogs in Spain..She put them all over him. But we realized

that he now is too strong for

them to be much use, and I expected to see more improvement of his lordosis, but

it didn´t do much. He did get more stability in them, but not much else.. Even

she was a little disappointed in how little they seemed to help him. I thought

they would work well for him, but right now, only in stability, not sure I want

to spend 600 euros on something that doesn´t do too much.. That is all the news

for now on Santiago. Hoping and praying that all the other kids out their

continue getting better and that the future holds a lot of new and better things

for them.

Sincerely,

Kelli and Santiago

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.>

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html

[Guest guest]

We have also seen a geneticist and a neuro for Dylan. The geneticist didn't see

anything obvious on a clinical evaluation that led her to think any obvious

genetic disorders, she ran one blood test to test for some proteins that might

indicate a neuromuscular disorder and those came back normal. She thought that

the scoliosis might be related to the torticollis and recommended we just wait

and see and maybe do a chromosonal microarray analysis. To be honest, the

geneticist we saw didn't really impress me. We didn't do any further testing at

that time, but then in January we saw a neurologist. She recommended a bunch of

blood tests to test all sorts of organic acids, the chromosonal microarray

analysis, a urine test to check for proteins, and a bunch of other tests that I

have no idea what they were. She said her hunch was that they would all come

back normal. She looked at a brain MRI that he had done for another condition

he has (benign extra

axial fluid of infancy). She said that everything on the MRI looked normal.

We have just now gotten around to getting all of the blood tests she ordered

completed (as in I just went this morning). But if they come back normal, I

don't know what's left other than an EMG and a muscle biopsy. Dylan is slightly

delayed in gross motor, but he only has what the doctors describe as mild low

tone. His physical therapist feels that his tone has definitely improved over

time as well and it was always on the mild end. He was born three months

premature, so it's not unusual for a preemie to have low tone. But that also

eliminates any possibility for intrauterine molding (he was only 2 lbs. 12

ounces when he was born). So, I don't know if there is some underlying

condition going on or if it is just a fluke from having some mild tone,

torticollis, and a pretty large head as well as possibly a genetic

predisposition to scoliosis since I have a mild case

myself. I would like to have answers, but I also am questioning just how far

to go with the testing. I think for me it might depend on how his development

goes once he gets out of the cast (in 2 months) and whether or not he remains

straight once he gets in the brace. Now that I have finally gotten the blood

work done, I am a little anxious to find out what the results will be.

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome. >

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html

[Guest guest]

Oh yeah, forgot, but Dylan also had the neuroopthamologist appt. and that was

normal.

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome. >

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html

[Guest guest]

Tina,

Thanks for that! Whew! It blows your mind when you start thinking about

wheel chairs by the teen years and a shortened life expectancy!!!! Would I even

want to know that in advance? I guess it would help with the " preparation " , but

I think I would look at her every day and wonder how long before she needs that

wheel chair, etc. I agree with you about stopping at the biopsy. The blood

tests should come back in 3 weeks and I will post about them. I have the names

now of some eye docs in my area and will be setting up her eye exam next week.

It helps to know that Sophia didn't cry during the EMG because I was very

concerned about putting Noelle through anything more painful and invasive than

she already has to.... I am now leaning towards allowing the test if they think

it's necessary. Noelle currently has no detectable muscle issues. When they

did the EMG, did they explain what treatment options were available, if any?

Thanks again! Steph

Tina wrote:

Steph,

We also have seen a neuro/genetics specialist for Sophia. They did every

blood/urine test possible and everything came back negative. They did the EMG

(pin sticks and little shocks to test nerve reception) and it was normal. They

said they still think there may be some type of muscular disorder or metabolic

issue but they don't know what it is. The only test left is a muscle biopsy

where they take a significant sample from her thigh (but she has to be 2 yrs old

to do it). That was where I drew the line. Her muscle tone has continued to

improve (very hypotonic at 6 months and now at 18 months almost normal, just

slightly low tone), she still has one side weaker (left), her left thoracic

curve has improved from almost 40 degrees down to 11 degrees with Metha casting,

no recent cases of pneumonia, etc. So overall, I think she is doing great and am

not going to put her (or us) through any more testing. I asked them if the

results of the biopsy test would change her treatment

options (no), would they be able to do something for her if there was an issue

(no), what was the point then? (they said so we could prepare ourselves for the

future). So then I asked what they meant by " future " ? Could this shorten her

life span, would she require special care, etc. (that is when I was really

freaking out in the office and starting to tear up)? They said there is very

wide spectrum for muscular disorders from those that live totally normal,

healthy lives and you would never know anything was wrong to those that end up

in wheelchairs by highschool and life expectancy is 30s. I know that you will

make the right decision for Noelle, but just wanted to share our experience. By

the way, Sophia did not even cry when they did the EMG. Good luck and please let

us know what you find out from the test results.

Tina

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.>

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html

[Guest guest]

Hi Tasha,

You made me laugh.... Glad you think I'm not nuts!!!! Just a lot of info. at

once and so many possibilities! Dr. Pappas also said that soon we will be able

to test for a genetic link for scoliosis, but that it's not available yet. He

suggested that we might test Noelle's blood again in the future when they were

able to detect it because I was concerned for her offspring. I will post her

blood tests when they come back and update also after her eye exam. Thanks for

listening! Steph

Tasha Fontenot wrote:

Hi ,

Try not to freak out over everything they told you.........you just don't know

yet.

's visit with a geneticist was just an observation type visit. She did not

feel he needed any testing. too had torticollis, plagiocephaly and facial

asymmetry. He never had PT or wore a helmet. Maybe he should have, but we never

went that direction. Once he starting casting his torticollis improved

tremendously.

also had an eye exam.......can't remember the specifics of it, but it came

out fine.

After was done with casting he was evaluated for PT, but did not show signs

of needing that. All they did is give us exercises to do here at home. Those

soon were done away with because he really did not need them.

Anyway, I think I tend to agree if it were positioning in utero, why didn't it

get better once he was born. Who knows???

I know where goes for treatment, ish Rite,they have found out through

research a genetic link.

Here is a link to that article discussing their findings:

http://www.tsrhc.org/default.asp?contentID=59

So much to wonder about, but I try not to drive myself crazy about it.

Especially not until I actually see a real reason for all the testing. So far

has not had any issues where we feel he needs any testing done.

Good luck on what ever you decide for Noelle. Keep us posted.

Oh and BTW, no I do not think you are nuts.

Take care,

Tasha

Kauffunger wrote: Hi Tasha,

We saw Noelle's neuro and geneticist yesterday.... What a LONG day!!!!!!! Her

neuro eval was great.... I asked her to prescribe some PT for Noelle and she

thought it was a good idea due to her torticollis, which has improved,but she

said it couldn't hurt so why not? And I agreed. We go back in 6 months. The

geneticist's visit confused/relieved /scared me more all at the same time!!!! He

and 2 of his staff memebers were present and they all agree that Noelle is

physically very strong, developmentally at or above age level, and advanced

asfar as verbal/communication skills, etc. They were a bit puzzled about how to

proceed with her because other than the scoli, torticollis and mild

hydroplagiocephaly, she has no other issues. They are running some blood tests

to rule out certain things that I don't completely understand. One is on marker

22 for cpk to rule out the leakage of a certain muscular protein, which they

don't think she has and a few other tests that they

are pretty sure will come back negative. They want her to have an eye exam to

look at her optical nerves for some possible clues as to the cause of her scoli,

so we will schedule that . He says we may check with her neuro to do a special

test where tiny needles are placed at certain points on the body and check the

various muscles and nerves on the right and left sides of the body. This test

could tell us if the muscles on one side of her body are devoloping faster than

the other side or if it's an issue where the nerves on one side of the body are

stronger than the other, which could cause the scoli. I asked him if it could

just be a positional issue in utero and he said that it could, but the fact that

the scoli was getting worse leads him to think it was more likely to be

something else that was still affecting the spine. He did ask me about my

uterus! And if Noelle was a twin, if I had fibroids, etc.... Anything that would

inhibit her movement inside of me. I

have no uterine issues, but I never felt her rolling around in there.... just

kicking and punching mostly! I'm worried that if the cause is muscular, that

once the cast and brace come off, the scoli could return again. I'm going to

have to ask Dr. S about that, too, in June. What do you think? He seems to think

if the scoli was caused by uterine positioning that it shouldn't have

progressed, but I'm not so sure..... And, at what point do I stop with the

testing? So, on the one hand, I feel great that Noelle is doing so well right

now, but scared that there still may be some underlying cause that could worsen

as she ages. I'm actually terrified that if one side continues to develop

faster, that she will become mishapen as she grows! Do you think I'm nuts!? The

truth is that her plagiocephaly is so mild that only expert-type docs even pick

it up.... Her pediatrician and some orthos have actually said they don't see

assymetry in her face..... Just seems like

there is always something more to test!!!!! Steph

Tasha Fontenot wrote:

Hi ,

When saw a geneticist, she felt it was due to his positioning in utero.

is a twin. For 3 months he literally stayed in 1 spot in my belly. He moved

his arms and legs, but was head down in the birth canal ready for the world. He

gave his brother lots of room to move around. Anyway I have heard of several

scoli kids that their docs/geneticist thought the same thing......positioning in

utero.

I'll be anxious to hear what they say about Noelle.

Tasha

Mommy of twin boys- and 3 years old

Fort Worth, Texas

is currently in a brace-8 degrees out of brace!!

Kauffunger wrote: Hi Kelli,

Congratulations on your great news with Santiago!!!! You actually raised a very

interesting point for me with the mention of " symptomatic " scoliosis. My

daughter has infantile scoli from birth and some of her docs from NYU are still

referring to it as congenital and not ideopathic. We are actually seeing a

geneticist tomorrow as well as her neurologist for further evaluation. When I

spoke to the nurse practitioner several days ago, she sort of mentioned that the

scoli has to be caused by something.... if not a spinal abnormality, then

perhaps her position in utero could be the " cause " . Even in cast, Noelle does

tend to lean to one side and I have often wondered if she would benefit from

some type of PT and will mention these exercises to the docs tomorrow. Thanks

for the great info and good luck with the brace!!!! Steph

kelli peasley wrote:

Hi everyone, just thought I would give you the latest on Santiago. Just got back

from Barcelona with Dr. Ventura and three other specialists . The great news is

that the Providence brace is doing just what we hoped it would, its working...

His official curve is at 38 degrees without the brace and 18 in the brace which

is great!!!!. So the brace is holding him, straightening him and on top of it

all, it is comfortable for him to wear, not one problem with it. We casted Santi

a couple of times and went from 50 degrees to 28, which was incredible.. the

casting literally saved us from a very early intervention. Dr. Ventura mentioned

something interesting, have any of you heard of having a scoliosis that is not

idiopathic or congenital but " symptomatic " . He is referring to Santis lack of

muscles in his back at birth, but slowly we are recooperating them, thus it is

holding his scoliosis.. He says the MRI will confirm a lot, but he doesn´t feel

that

Santi falls into either catagory, just curious what you all thought of that

interesting point of view..The PT did say that abdominales and lunges are

essential for kids like him, also she wants us to velcro his feet to the floor

(now that didn´t come out the way it should have, although sometimes I would

like to literally velcro him to the floor to slow him down!!!) She said that

stability and equilibrium are also essential with the curves, because they tend

to lean to one side more then the other. Thus this motion platform is literally

a piece of wood with velcro straps nailed into it and you place his feet in them

so they cannot move, make him do reaches with his hands, waist etc, but not

letting him move his feet, sounds easier then it really is...I hadn´t realized

how much compensation he has to his left side. The Pt also specializes in

training of the Theratogs in Spain..She put them all over him. But we realized

that he now is too strong for

them to be much use, and I expected to see more improvement of his lordosis, but

it didn´t do much. He did get more stability in them, but not much else.. Even

she was a little disappointed in how little they seemed to help him. I thought

they would work well for him, but right now, only in stability, not sure I want

to spend 600 euros on something that doesn´t do too much.. That is all the news

for now on Santiago. Hoping and praying that all the other kids out their

continue getting better and that the future holds a lot of new and better things

for them.

Sincerely,

Kelli and Santiago

[infantile_scoliosi s] 5 year old girl needs our help

Watching the local news last night I heard a headline I could not

ignore. A 5 year old girl now paralyzed from the chest down after

surgery to correct a scoliosis related condition. Hearing this, I

looked down at my son sleeping in my arms. He is in his first cast.

If I hadn't researched treatment myself and had followed the first

recommendation of surgery we recieved, that could have been Jaydon. It

brought into perspective, even more, how critical educating our

pysicians on EPT is for our children and the children of those who are

not aware that they have options.

Here is a link to the website for Abrigail Gadson. I hope some of you

will be able to help. I intend to do all I can for a family that

wasn't as lucky as my family has been.

http://www.abrigail

<http://www.abrigail gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.>

gadsonhopefund. org/Abrigail_ Gadson_Hope_ Fund/Welcome.

html