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great job- you have done all the appropriate testing and it sounds like your

little guy has made much improvement. My name is charlotte henry- I do not

post very often but read all the posts- welcome- you can right me on or off the

board anytime you like. My Josh will be 7 next month and has made a lot of

improvement with everything except his eating-Its been along hard road for

Josh who was nonverbal til he was 3.5, had 2 sets of tubes in his ears, refused

to take a bath due to sensory issues no matter what I did for about a year

(YES-YOU HEARD ME RIGHT) this summer he has started playing in the swimming

pool and he does not mind getting his hair, WE STILL HAVE SEVERE BEHAVIOR

PROBLEMS. I thank god everyday. Josh had 5 years of intense speech and

occupational

therapy and we see a psychologist every other week now for an hour and we

get a 1 hour a week in home service from Easter Seals. Rob works at Easter

Seals and he comes over once a week and engages Josh in a cooking project to

entice him to try some new foods. I am a stay at home mom, a registered

childcare

provider who specializes in kids with special needs, a college student who

will get my associate in science degree in may, I am going to school to be a

special ed teacher, I also have a nursing degree. I have along way to go. We

went to Walt Disney World for 5 days last month and had a great time. Josh

did sweel. We brought his own food with a microwave oven and kept the milk in

an ice chest. Charlotte Henry from West Des Moines in Iowa

************************************** Get a sneak peek of the all-new AOL at

http://discover.aol.com/memed/aolcom30tour

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Please take a look at the malabsorption work up and Dr. 's

study. Tina has created a folder for this that may be a good thing for you.

Best wishes!

Liz

rainydev wrote:

>Hi everyone.

>

>I am new to this board.. I can't remember if I already posted an

>intro.. I am still getting used to the formating too so bare with me

>please.

>

>I really like how you all seem to look at more than just apraxia, and

>take a very holistic approach to our kids. I mean looking at other

>issues like food alleries, defieciencs, etc and treating our kids with

>supplementation and other dietary and natural remedies.

>

>My son is almost 4.5, has severe verbal apraxia, dysarthria,

>hypotonia, sensory integration disorder, fine-motor dyspraxia and

>developmental (or global) dyspraxia.

>Recently he has surged, being able to say about 50-100 word

>approximations and more everyday. He uses sign language at school (1

>on 1 interpreter). He just started this and it is working really well,

>he is expected/encouraged to sign at the same time as speech attempts.

>He signs over 1000 words.

>

>6 months ago he didn't have one word that was there consistently. He

>could sometimes say mom, and sometimes say no. So he is making

>progress. We travelled to Michigan (from New York) with his speech

>therapist to see Kaufmann apraxia expert for a week. It was

>amazing, a sort of point of turnaround for Liam. If any of you have

>questions about that I will gladly share.

>

>I also wanted to ask of any of you what other tests you think I should

>ask the doctors to do. We have just been through Dr season with his

>yearly check ups with dev ped and neurology, but we have another appt

>with his general soon, so I want to get everything done as effeciently

>as possible. I am gettng really sick of going to all the doctor's

>appointment and feeling bad for Liam getting poked and prodded! I am

>hoping after this one he won't have to go back to the doc for a while!

>

>So here is Liam's short history,

>-already listed his diagnosis..

>-pneumonia for several months at age 1

>-hospitalized age 3 for one week with unknown illness 105 fever,

>vomitting, extreme fatigue, 35,000 white blood cell count - doctors

>couldn't find illness despite every test (spinal tap, etc etc etc) iv

>antibiotics got him better

>-normal delivery, 2 weeks overdue

>

>Liam has already been tested and tests were FINE for:

>

>EEG - seizures

>fragile x

>EFA levels

>lead levels

>immune system (not sure what specific tests ?)

>

>I plan on asking the doctor about

>allergy tests for food/environmental

>hemachromotosis (in my family)

>

>I know he must have had more tests but I can't remember at the moment.

>Thanks y'all ! Sorry so long, you'll find out I am long-winded. Err,

>long-type-ed.. ?

>

>Annie

>

>

>

>

>

>

>

>

>

>

>

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Guest guest

Does anyone know of support groups in Manhattan

Annie

Liz <lizlaw@...> wrote:

Please take a look at the malabsorption work up and Dr.

's

study. Tina has created a folder for this that may be a good thing for you.

Best wishes!

Liz

rainydev wrote:

>Hi everyone.

>

>I am new to this board.. I can't remember if I already posted an

>intro.. I am still getting used to the formating too so bare with me

>please.

>

>I really like how you all seem to look at more than just apraxia, and

>take a very holistic approach to our kids. I mean looking at other

>issues like food alleries, defieciencs, etc and treating our kids with

>supplementation and other dietary and natural remedies.

>

>My son is almost 4.5, has severe verbal apraxia, dysarthria,

>hypotonia, sensory integration disorder, fine-motor dyspraxia and

>developmental (or global) dyspraxia.

>Recently he has surged, being able to say about 50-100 word

>approximations and more everyday. He uses sign language at school (1

>on 1 interpreter). He just started this and it is working really well,

>he is expected/encouraged to sign at the same time as speech attempts.

>He signs over 1000 words.

>

>6 months ago he didn't have one word that was there consistently. He

>could sometimes say mom, and sometimes say no. So he is making

>progress. We travelled to Michigan (from New York) with his speech

>therapist to see Kaufmann apraxia expert for a week. It was

>amazing, a sort of point of turnaround for Liam. If any of you have

>questions about that I will gladly share.

>

>I also wanted to ask of any of you what other tests you think I should

>ask the doctors to do. We have just been through Dr season with his

>yearly check ups with dev ped and neurology, but we have another appt

>with his general soon, so I want to get everything done as effeciently

>as possible. I am gettng really sick of going to all the doctor's

>appointment and feeling bad for Liam getting poked and prodded! I am

>hoping after this one he won't have to go back to the doc for a while!

>

>So here is Liam's short history,

>-already listed his diagnosis..

>-pneumonia for several months at age 1

>-hospitalized age 3 for one week with unknown illness 105 fever,

>vomitting, extreme fatigue, 35,000 white blood cell count - doctors

>couldn't find illness despite every test (spinal tap, etc etc etc) iv

>antibiotics got him better

>-normal delivery, 2 weeks overdue

>

>Liam has already been tested and tests were FINE for:

>

>EEG - seizures

>fragile x

>EFA levels

>lead levels

>immune system (not sure what specific tests ?)

>

>I plan on asking the doctor about

>allergy tests for food/environmental

>hemachromotosis (in my family)

>

>I know he must have had more tests but I can't remember at the moment.

>Thanks y'all ! Sorry so long, you'll find out I am long-winded. Err,

>long-type-ed.. ?

>

>Annie

>

>

>

>

>

>

>

>

>

>

>

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Guest guest

Hi Annie,

Welcome to this great group. I think it's time to say something again

about my son's rare genetic condition. He has everything you

describe. (like many of the dyspraxic children). Here are a few other

features. Again, this condition IS RARE. I mention it because for a

just a few of you it may provide the missing information you need.

Many people go without diagnosis into their teens, primarily because

of lack of awareness. Most physicians (pediatricians and

developmental pediatricians as well) have never heard of or seen it.

Even many geneticists haven't seen it. Amniocentesis is often normal.

You have to think of the diagnosis to accurately test for it. It is

from a very tiny deletion in chromosome 17. You do not get it from

your parents. It is from an accident of nature. Here goes:

Major Physical Features (> 75% of affected individuals)

Characteristic facial appearance; flattened mid-face, down-turned

mouth, prominent and often rosy cheeks; prominent jaw in older

children and adults; dark eyebrows that meet in midline (synophrys).

(Note: these facial characteristics can be subtle.)

Middle ear problems (chronic ear infections) and laryngeal anomalies

Hoarse voice,

Short fingers and toes

Decreased sensitivity to pain

Major Developmental & Behavioral Features* (> 75% of affected

individuals)

Developmental delay(significant for most)

Generalized complacency/lethargy (infancy)

Teeth grinding

Maladaptive behaviors such as: hyperactivity, impulsivity, attention

seeking (especially from adults); easy excitability or

distractibility; sudden mood shifts; explosive outbursts; prolonged

tantrums; and aggressive or destructive behavior

Sleep disturbance (chronic)

Frequent nighttime awakenings

Increased daytime sleepiness/naps

Early morning awake times (5:30 a.m. - 6:30 a.m.)

Stereotypic/repetitive behaviors such as arm hugging/hand squeezing

when excited, " lick and flip " behavior (i.e., quick flipping pages of

books/magazines with/without licking finger)

Positive behavioral features

Endearing/appealing personalities

Excellent long term memory for names, places, events

Great sense of humor

Again, I'm sure at most this information is of use to only a couple

of people. Unlike most people on the board, my son will have

significant developmental delay (unless an NACD miracle can work

here!)My son's behavior hasn't been as bad as described, but it is an

issue. This syndrome does come with an undescribed immune deficiency,

and many of the kids do have recurrent respiratory infections.

If any of this rings a bell with you, check out the excellent website

about the syndrome: www:prisms.org for more information, or feel

free to contact me on or offline. Gretchen

>

> Does anyone know of support groups in Manhattan

> Annie

>

> Liz <lizlaw@...> wrote:

> Please take a look at the malabsorption work up and Dr.

's

> study. Tina has created a folder for this that may be a good thing

for you.

>

> Best wishes!

> Liz

>

> rainydev wrote:

>

> >Hi everyone.

> >

> >I am new to this board.. I can't remember if I already posted an

> >intro.. I am still getting used to the formating too so bare with

me

> >please.

> >

> >I really like how you all seem to look at more than just apraxia,

and

> >take a very holistic approach to our kids. I mean looking at other

> >issues like food alleries, defieciencs, etc and treating our kids

with

> >supplementation and other dietary and natural remedies.

> >

> >My son is almost 4.5, has severe verbal apraxia, dysarthria,

> >hypotonia, sensory integration disorder, fine-motor dyspraxia and

> >developmental (or global) dyspraxia.

> >Recently he has surged, being able to say about 50-100 word

> >approximations and more everyday. He uses sign language at school

(1

> >on 1 interpreter). He just started this and it is working really

well,

> >he is expected/encouraged to sign at the same time as speech

attempts.

> >He signs over 1000 words.

> >

> >6 months ago he didn't have one word that was there consistently.

He

> >could sometimes say mom, and sometimes say no. So he is making

> >progress. We travelled to Michigan (from New York) with his speech

> >therapist to see Kaufmann apraxia expert for a week. It was

> >amazing, a sort of point of turnaround for Liam. If any of you have

> >questions about that I will gladly share.

> >

> >I also wanted to ask of any of you what other tests you think I

should

> >ask the doctors to do. We have just been through Dr season with his

> >yearly check ups with dev ped and neurology, but we have another

appt

> >with his general soon, so I want to get everything done as

effeciently

> >as possible. I am gettng really sick of going to all the doctor's

> >appointment and feeling bad for Liam getting poked and prodded! I

am

> >hoping after this one he won't have to go back to the doc for a

while!

> >

> >So here is Liam's short history,

> >-already listed his diagnosis..

> >-pneumonia for several months at age 1

> >-hospitalized age 3 for one week with unknown illness 105 fever,

> >vomitting, extreme fatigue, 35,000 white blood cell count - doctors

> >couldn't find illness despite every test (spinal tap, etc etc etc)

iv

> >antibiotics got him better

> >-normal delivery, 2 weeks overdue

> >

> >Liam has already been tested and tests were FINE for:

> >

> >EEG - seizures

> >fragile x

> >EFA levels

> >lead levels

> >immune system (not sure what specific tests ?)

> >

> >I plan on asking the doctor about

> >allergy tests for food/environmental

> >hemachromotosis (in my family)

> >

> >I know he must have had more tests but I can't remember at the

moment.

> >Thanks y'all ! Sorry so long, you'll find out I am long-winded.

Err,

> >long-type-ed.. ?

> >

> >Annie

> >

> >

> >

> >

> >

> >

> >

> >

> >

> >

> >

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Guest guest

I understand the genetic condition is at issue. Regardless, part of the

condition could actually involve malabsorption, especially because you

mentioned hoarse voice (acid reflux could cause that). There is

more...malabsorption could cause bone maleability, neurological stuff,

thyroid wackiness without a true thyroid issue (sleep disturbance, mood

shifts). It may not be your panacea but could have therapeutic value.

Not a doc, just a mom.

Gretchen wrote:

>Hi Annie,

>Welcome to this great group. I think it's time to say something again

>about my son's rare genetic condition. He has everything you

>describe. (like many of the dyspraxic children). Here are a few other

>features. Again, this condition IS RARE. I mention it because for a

>just a few of you it may provide the missing information you need.

>Many people go without diagnosis into their teens, primarily because

>of lack of awareness. Most physicians (pediatricians and

>developmental pediatricians as well) have never heard of or seen it.

>Even many geneticists haven't seen it. Amniocentesis is often normal.

>You have to think of the diagnosis to accurately test for it. It is

>from a very tiny deletion in chromosome 17. You do not get it from

>your parents. It is from an accident of nature. Here goes:

>

>Major Physical Features (> 75% of affected individuals)

>

>Characteristic facial appearance; flattened mid-face, down-turned

>mouth, prominent and often rosy cheeks; prominent jaw in older

>children and adults; dark eyebrows that meet in midline (synophrys).

>(Note: these facial characteristics can be subtle.)

>Middle ear problems (chronic ear infections) and laryngeal anomalies

>Hoarse voice,

>Short fingers and toes

>Decreased sensitivity to pain

>

>Major Developmental & Behavioral Features* (> 75% of affected

>individuals)

>

>Developmental delay(significant for most)

>Generalized complacency/lethargy (infancy)

>Teeth grinding

>Maladaptive behaviors such as: hyperactivity, impulsivity, attention

>seeking (especially from adults); easy excitability or

>distractibility; sudden mood shifts; explosive outbursts; prolonged

>tantrums; and aggressive or destructive behavior

>

>Sleep disturbance (chronic)

>Frequent nighttime awakenings

>Increased daytime sleepiness/naps

>Early morning awake times (5:30 a.m. - 6:30 a.m.)

>

>Stereotypic/repetitive behaviors such as arm hugging/hand squeezing

>when excited, " lick and flip " behavior (i.e., quick flipping pages of

>books/magazines with/without licking finger)

>

>Positive behavioral features

>Endearing/appealing personalities

>Excellent long term memory for names, places, events

>Great sense of humor

>

>Again, I'm sure at most this information is of use to only a couple

>of people. Unlike most people on the board, my son will have

>significant developmental delay (unless an NACD miracle can work

>here!)My son's behavior hasn't been as bad as described, but it is an

>issue. This syndrome does come with an undescribed immune deficiency,

>and many of the kids do have recurrent respiratory infections.

>If any of this rings a bell with you, check out the excellent website

>about the syndrome: www:prisms.org for more information, or feel

>free to contact me on or offline. Gretchen

>

>

>>Does anyone know of support groups in Manhattan

>> Annie

>>

>>Liz <lizlaw@...> wrote:

>> Please take a look at the malabsorption work up and Dr.

>>

>>

> 's

>

>

>>study. Tina has created a folder for this that may be a good thing

>>

>>

>for you.

>

>

>>Best wishes!

>>Liz

>>

>>rainydev wrote:

>>

>>

>>

>>>Hi everyone.

>>>

>>>I am new to this board.. I can't remember if I already posted an

>>>intro.. I am still getting used to the formating too so bare with

>>>

>>>

>me

>

>

>>>please.

>>>

>>>I really like how you all seem to look at more than just apraxia,

>>>

>>>

>and

>

>

>>>take a very holistic approach to our kids. I mean looking at other

>>>issues like food alleries, defieciencs, etc and treating our kids

>>>

>>>

>with

>

>

>>>supplementation and other dietary and natural remedies.

>>>

>>>My son is almost 4.5, has severe verbal apraxia, dysarthria,

>>>hypotonia, sensory integration disorder, fine-motor dyspraxia and

>>>developmental (or global) dyspraxia.

>>>Recently he has surged, being able to say about 50-100 word

>>>approximations and more everyday. He uses sign language at school

>>>

>>>

>(1

>

>

>>>on 1 interpreter). He just started this and it is working really

>>>

>>>

>well,

>

>

>>>he is expected/encouraged to sign at the same time as speech

>>>

>>>

>attempts.

>

>

>>>He signs over 1000 words.

>>>

>>>6 months ago he didn't have one word that was there consistently.

>>>

>>>

>He

>

>

>>>could sometimes say mom, and sometimes say no. So he is making

>>>progress. We travelled to Michigan (from New York) with his speech

>>>therapist to see Kaufmann apraxia expert for a week. It was

>>>amazing, a sort of point of turnaround for Liam. If any of you have

>>>questions about that I will gladly share.

>>>

>>>I also wanted to ask of any of you what other tests you think I

>>>

>>>

>should

>

>

>>>ask the doctors to do. We have just been through Dr season with his

>>>yearly check ups with dev ped and neurology, but we have another

>>>

>>>

>appt

>

>

>>>with his general soon, so I want to get everything done as

>>>

>>>

>effeciently

>

>

>>>as possible. I am gettng really sick of going to all the doctor's

>>>appointment and feeling bad for Liam getting poked and prodded! I

>>>

>>>

>am

>

>

>>>hoping after this one he won't have to go back to the doc for a

>>>

>>>

>while!

>

>

>>>So here is Liam's short history,

>>>-already listed his diagnosis..

>>>-pneumonia for several months at age 1

>>>-hospitalized age 3 for one week with unknown illness 105 fever,

>>>vomitting, extreme fatigue, 35,000 white blood cell count - doctors

>>>couldn't find illness despite every test (spinal tap, etc etc etc)

>>>

>>>

>iv

>

>

>>>antibiotics got him better

>>>-normal delivery, 2 weeks overdue

>>>

>>>Liam has already been tested and tests were FINE for:

>>>

>>>EEG - seizures

>>>fragile x

>>>EFA levels

>>>lead levels

>>>immune system (not sure what specific tests ?)

>>>

>>>I plan on asking the doctor about

>>>allergy tests for food/environmental

>>>hemachromotosis (in my family)

>>>

>>>I know he must have had more tests but I can't remember at the

>>>

>>>

>moment.

>

>

>>>Thanks y'all ! Sorry so long, you'll find out I am long-winded.

>>>

>>>

>Err,

>

>

>>>long-type-ed.. ?

>>>

>>>Annie

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

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Guest guest

I am not a doc but want to beg both of you to do two things:

1) Consider addressing malabsorption and whatever the cause is. If few

docs know about this then it is likely that, as with autism and apraxia,

the docs don't know where to begin with malabsorption and simply say

" well that is what comes with that syndrome. "

2) Consider NACD. These folks, according to so many of Janice's posts,

have been able to develop programs for kids disabled in so many ways

that I would think your kid has a shot.

Again, I am a mom on a mission, ro get my kid well. My 2 cents are just

that. No medical background. I have just learned along the way that

opportunities get missed because labels, genetic or otherwise, can

sometimes shift focus in the wrong direction and we end up accepting

things that can be helped.

Best wishes!

Liz

Gretchen wrote:

>Hi Annie,

>Welcome to this great group. I think it's time to say something again

>about my son's rare genetic condition. He has everything you

>describe. (like many of the dyspraxic children). Here are a few other

>features. Again, this condition IS RARE. I mention it because for a

>just a few of you it may provide the missing information you need.

>Many people go without diagnosis into their teens, primarily because

>of lack of awareness. Most physicians (pediatricians and

>developmental pediatricians as well) have never heard of or seen it.

>Even many geneticists haven't seen it. Amniocentesis is often normal.

>You have to think of the diagnosis to accurately test for it. It is

>from a very tiny deletion in chromosome 17. You do not get it from

>your parents. It is from an accident of nature. Here goes:

>

>Major Physical Features (> 75% of affected individuals)

>

>Characteristic facial appearance; flattened mid-face, down-turned

>mouth, prominent and often rosy cheeks; prominent jaw in older

>children and adults; dark eyebrows that meet in midline (synophrys).

>(Note: these facial characteristics can be subtle.)

>Middle ear problems (chronic ear infections) and laryngeal anomalies

>Hoarse voice,

>Short fingers and toes

>Decreased sensitivity to pain

>

>Major Developmental & Behavioral Features* (> 75% of affected

>individuals)

>

>Developmental delay(significant for most)

>Generalized complacency/lethargy (infancy)

>Teeth grinding

>Maladaptive behaviors such as: hyperactivity, impulsivity, attention

>seeking (especially from adults); easy excitability or

>distractibility; sudden mood shifts; explosive outbursts; prolonged

>tantrums; and aggressive or destructive behavior

>

>Sleep disturbance (chronic)

>Frequent nighttime awakenings

>Increased daytime sleepiness/naps

>Early morning awake times (5:30 a.m. - 6:30 a.m.)

>

>Stereotypic/repetitive behaviors such as arm hugging/hand squeezing

>when excited, " lick and flip " behavior (i.e., quick flipping pages of

>books/magazines with/without licking finger)

>

>Positive behavioral features

>Endearing/appealing personalities

>Excellent long term memory for names, places, events

>Great sense of humor

>

>Again, I'm sure at most this information is of use to only a couple

>of people. Unlike most people on the board, my son will have

>significant developmental delay (unless an NACD miracle can work

>here!)My son's behavior hasn't been as bad as described, but it is an

>issue. This syndrome does come with an undescribed immune deficiency,

>and many of the kids do have recurrent respiratory infections.

>If any of this rings a bell with you, check out the excellent website

>about the syndrome: www:prisms.org for more information, or feel

>free to contact me on or offline. Gretchen

>

>

>>Does anyone know of support groups in Manhattan

>> Annie

>>

>>Liz <lizlaw@...> wrote:

>> Please take a look at the malabsorption work up and Dr.

>>

>>

> 's

>

>

>>study. Tina has created a folder for this that may be a good thing

>>

>>

>for you.

>

>

>>Best wishes!

>>Liz

>>

>>rainydev wrote:

>>

>>

>>

>>>Hi everyone.

>>>

>>>I am new to this board.. I can't remember if I already posted an

>>>intro.. I am still getting used to the formating too so bare with

>>>

>>>

>me

>

>

>>>please.

>>>

>>>I really like how you all seem to look at more than just apraxia,

>>>

>>>

>and

>

>

>>>take a very holistic approach to our kids. I mean looking at other

>>>issues like food alleries, defieciencs, etc and treating our kids

>>>

>>>

>with

>

>

>>>supplementation and other dietary and natural remedies.

>>>

>>>My son is almost 4.5, has severe verbal apraxia, dysarthria,

>>>hypotonia, sensory integration disorder, fine-motor dyspraxia and

>>>developmental (or global) dyspraxia.

>>>Recently he has surged, being able to say about 50-100 word

>>>approximations and more everyday. He uses sign language at school

>>>

>>>

>(1

>

>

>>>on 1 interpreter). He just started this and it is working really

>>>

>>>

>well,

>

>

>>>he is expected/encouraged to sign at the same time as speech

>>>

>>>

>attempts.

>

>

>>>He signs over 1000 words.

>>>

>>>6 months ago he didn't have one word that was there consistently.

>>>

>>>

>He

>

>

>>>could sometimes say mom, and sometimes say no. So he is making

>>>progress. We travelled to Michigan (from New York) with his speech

>>>therapist to see Kaufmann apraxia expert for a week. It was

>>>amazing, a sort of point of turnaround for Liam. If any of you have

>>>questions about that I will gladly share.

>>>

>>>I also wanted to ask of any of you what other tests you think I

>>>

>>>

>should

>

>

>>>ask the doctors to do. We have just been through Dr season with his

>>>yearly check ups with dev ped and neurology, but we have another

>>>

>>>

>appt

>

>

>>>with his general soon, so I want to get everything done as

>>>

>>>

>effeciently

>

>

>>>as possible. I am gettng really sick of going to all the doctor's

>>>appointment and feeling bad for Liam getting poked and prodded! I

>>>

>>>

>am

>

>

>>>hoping after this one he won't have to go back to the doc for a

>>>

>>>

>while!

>

>

>>>So here is Liam's short history,

>>>-already listed his diagnosis..

>>>-pneumonia for several months at age 1

>>>-hospitalized age 3 for one week with unknown illness 105 fever,

>>>vomitting, extreme fatigue, 35,000 white blood cell count - doctors

>>>couldn't find illness despite every test (spinal tap, etc etc etc)

>>>

>>>

>iv

>

>

>>>antibiotics got him better

>>>-normal delivery, 2 weeks overdue

>>>

>>>Liam has already been tested and tests were FINE for:

>>>

>>>EEG - seizures

>>>fragile x

>>>EFA levels

>>>lead levels

>>>immune system (not sure what specific tests ?)

>>>

>>>I plan on asking the doctor about

>>>allergy tests for food/environmental

>>>hemachromotosis (in my family)

>>>

>>>I know he must have had more tests but I can't remember at the

>>>

>>>

>moment.

>

>

>>>Thanks y'all ! Sorry so long, you'll find out I am long-winded.

>>>

>>>

>Err,

>

>

>>>long-type-ed.. ?

>>>

>>>Annie

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

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Guest guest

Thanks for your thoughts, Liz. I think it is likely that there is

malabsorption involved. But unfortunately, if there is, it is

probably metabolic rather than inflammatory. I think he did have some

response to fish oil and vitamin E, (There were a lot of other things

going on at the same time as the supplements were started and at each

dosage change, so I can't say for sure the surges were due to fish

oil and vitamin E. I recently stopped them for 4 days, and the mood

swings were terrible. We are back on them, feeling much better. With

the syndrome there are associated thyroid and cholesterol changes,

too. I think he has some reflux (it's a big problem in many of the

kids) but even as an infant his voice was hoarse after a spell of

crying (he didn't cry nearly as much as his sisters when they were

infants, and their voices weren't hoarse). I keep trying to make

sense of it all, but I guess if the experts can't, I probably won't

anytime soon either! Some parents in the group (3 I know of) have had

improved behavior with the GFCF or SCD diets. I'm just not ready to

commit to that one yet. Thanks again for your input. You have sure

done your research! Gretchen

In , Liz <lizlaw@...> wrote:

>

> I understand the genetic condition is at issue. Regardless, part of

the

> condition could actually involve malabsorption, especially because

you

> mentioned hoarse voice (acid reflux could cause that). There is

> more...malabsorption could cause bone maleability, neurological

stuff,

> thyroid wackiness without a true thyroid issue (sleep disturbance,

mood

> shifts). It may not be your panacea but could have therapeutic

value.

> Not a doc, just a mom.

>

>

>

> Gretchen wrote:

>

> >Hi Annie,

> >Welcome to this great group. I think it's time to say something

again

> >about my son's rare genetic condition. He has everything you

> >describe. (like many of the dyspraxic children). Here are a few

other

> >features. Again, this condition IS RARE. I mention it because for

a

> >just a few of you it may provide the missing information you need.

> >Many people go without diagnosis into their teens, primarily

because

> >of lack of awareness. Most physicians (pediatricians and

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Guest guest

Just to let you know, the reason the folks likely had success with the

diets you mention is the removal of difficult to digest and absorb

foods. Some on this board have been able to find digestion and

absorption success with enzymes, probiotics and supplements. You could

inquire as to that route (which is precisely how my kids malabsorption

would be treated by the docs if I let them scope only maybe with steroid

added which I want to avoid). In the end that stuff and the right diet

may be helpful but that route could buy you time to prepare for dietary

change. I did diet first for a number of reasons, not the least of which

I knew I had to and the kids are young so it was the easiest time to

make the switch. We each have to do our own thing and I have no doubt

you can and will do whatever ends up being the best thing. You are in

the best position to know what is right. Don't rush or beat yourself up.

Life is hard enough.

Gretchen wrote:

>Thanks for your thoughts, Liz. I think it is likely that there is

>malabsorption involved. But unfortunately, if there is, it is

>probably metabolic rather than inflammatory. I think he did have some

>response to fish oil and vitamin E, (There were a lot of other things

>going on at the same time as the supplements were started and at each

>dosage change, so I can't say for sure the surges were due to fish

>oil and vitamin E. I recently stopped them for 4 days, and the mood

>swings were terrible. We are back on them, feeling much better. With

>the syndrome there are associated thyroid and cholesterol changes,

>too. I think he has some reflux (it's a big problem in many of the

>kids) but even as an infant his voice was hoarse after a spell of

>crying (he didn't cry nearly as much as his sisters when they were

>infants, and their voices weren't hoarse). I keep trying to make

>sense of it all, but I guess if the experts can't, I probably won't

>anytime soon either! Some parents in the group (3 I know of) have had

>improved behavior with the GFCF or SCD diets. I'm just not ready to

>commit to that one yet. Thanks again for your input. You have sure

>done your research! Gretchen

>

>

>In , Liz <lizlaw@...> wrote:

>

>

>>I understand the genetic condition is at issue. Regardless, part of

>>

>>

>the

>

>

>>condition could actually involve malabsorption, especially because

>>

>>

>you

>

>

>>mentioned hoarse voice (acid reflux could cause that). There is

>>more...malabsorption could cause bone maleability, neurological

>>

>>

>stuff,

>

>

>>thyroid wackiness without a true thyroid issue (sleep disturbance,

>>

>>

>mood

>

>

>>shifts). It may not be your panacea but could have therapeutic

>>

>>

>value.

>

>

>>Not a doc, just a mom.

>>

>>

>>

>>Gretchen wrote:

>>

>>

>>

>>>Hi Annie,

>>>Welcome to this great group. I think it's time to say something

>>>

>>>

>again

>

>

>>>about my son's rare genetic condition. He has everything you

>>>describe. (like many of the dyspraxic children). Here are a few

>>>

>>>

>other

>

>

>>>features. Again, this condition IS RARE. I mention it because for

>>>

>>>

>a

>

>

>>>just a few of you it may provide the missing information you need.

>>>Many people go without diagnosis into their teens, primarily

>>>

>>>

>because

>

>

>>>of lack of awareness. Most physicians (pediatricians and

>>>

>>>

>

>

>

>

>

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Guest guest

Liz, thanks as always for your thoughts. I have been toying with the

diet change, but don't think it will be easy in my family. I am

researching all the diets, but am holding off for now. One change at

a time seems good for us. Gretchen

>

> >Thanks for your thoughts, Liz. I think it is likely that there is

> >malabsorption involved. But unfortunately, if there is, it is

> >probably metabolic rather than inflammatory. I think he did have

some

> >response to fish oil and vitamin E, (There were a lot of other

things

> >going on at the same time as the supplements were started and at

each

> >dosage change, so I can't say for sure the surges were due to fish

> >oil and vitamin E. I recently stopped them for 4 days, and the

mood

> >swings were terrible.

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Guest guest

I am reading a good book on enzymes: Enzymes for autism and other

neurological conditions by DeFelice. I believe GFCFSF is needed

right now for us and it is the easiest for me to do now (no school but

social outings are tricky). What I do not know is if it will always be

necessary. As I say to myself often, it is a marathon and not a sprint.

I am encouraged by what I have learned about the dietary stuff but it is

something you need to go slowly on to see what each change means and

include the most food possible. Not sure if I have helped but I hope so.

Gretchen wrote:

>Liz, thanks as always for your thoughts. I have been toying with the

>diet change, but don't think it will be easy in my family. I am

>researching all the diets, but am holding off for now. One change at

>a time seems good for us. Gretchen

>

>

>>

>>

>>

>>>Thanks for your thoughts, Liz. I think it is likely that there is

>>>malabsorption involved. But unfortunately, if there is, it is

>>>probably metabolic rather than inflammatory. I think he did have

>>>

>>>

>some

>

>

>>>response to fish oil and vitamin E, (There were a lot of other

>>>

>>>

>things

>

>

>>>going on at the same time as the supplements were started and at

>>>

>>>

>each

>

>

>>>dosage change, so I can't say for sure the surges were due to fish

>>>oil and vitamin E. I recently stopped them for 4 days, and the

>>>

>>>

>mood

>

>

>>>swings were terrible.

>>>

>>>

>

>

>

>

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Guest guest

That's the question we are tackling these days -- do we still need to

take enzymes, or is his gut healed from combination of enzymes,

probiotics, and fish oil? And if healed right now, will it come

back? That's the BIG question.

As a first step, I am dialing back the fish oil to see if we can

reduce/eliminate some minor behaviorial issues. After that, we may

cut back on the enzymes to see if we still need them. I hate to mess

around right before starting kindergarten, but at some point we are

going to need to try.

in NJ

> >>

> >>

> >>

> >>>Thanks for your thoughts, Liz. I think it is likely that there

is

> >>>malabsorption involved. But unfortunately, if there is, it is

> >>>probably metabolic rather than inflammatory. I think he did have

> >>>

> >>>

> >some

> >

> >

> >>>response to fish oil and vitamin E, (There were a lot of other

> >>>

> >>>

> >things

> >

> >

> >>>going on at the same time as the supplements were started and at

> >>>

> >>>

> >each

> >

> >

> >>>dosage change, so I can't say for sure the surges were due to

fish

> >>>oil and vitamin E. I recently stopped them for 4 days, and the

> >>>

> >>>

> >mood

> >

> >

> >>>swings were terrible.

> >>>

> >>>

> >

> >

> >

> >

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