misdiagnosis

[Guest guest]

Jen in Illinois,

Just a thought, people are often misdiagnosed before a CMT diagnosis is made.

You said your grandmother had ALS and there is a cousin with a form of MD. This

could be all CMT - just misdiagnosed. It is also possible the CMT in your family

is recessive. Let us know how your son's diagnosis goes.

Gretchen

[Guest guest]

Gretchen,

Thanks for your input. My grandmother definately had ALS and died from it 2

years later. All my mom knows about her cousin with MD was that she had

whatever kind that causes droopy eyelids. My mom seems to have foot pain and

high arches like I do but she has never officially been tested. I am not sure

whether to take my son to the MDA clinic for a diagnosis or take him to a

pediatric neurologist. Any input would be appreciated.

Jen

[Guest guest]

Gretchen,

Are you saying that the ALS could have actually been CMT? I'm just curious,

because ALS is a fatal disease, and CMT is not.

Thanks,

**** , yes I know ALS is fatal. There have been reports of people

(especially older than 60, who have been given a diagnosis of ALS, when after a

ssecondary opinion, the seniors had CMT. ~ Gretchen

[Guest guest]

Gretchen, do you know if the CMT and/or its complications were the cause of

their death, or did they possibly have CMT and ALS? Thanks,

[Guest guest]

Not long ago, I stumbled upon a " blog " (public Internet diary) in which the

author of the blog wrote about how she was incredibly frustrated by the fact

that so many of the parents on her listserve were so clearly in denial about

their children being autistic. These children had all the " markers " for

autism, she said, and yet the parents were busy patting each other on the back,

reassuring each other that the signs they saw were obviously not autism, but

something else. The author cautioned that this delusional thinking was

ultimately going to be harmful to the children, who needed the autism dx in

order to

obtain services that would be beneficial. The parents needed to get over

their denial and move on.

Denial is a common theme in this group. Whether one has it or one doesn't,

that is.

, I know your child has been hugely benefitted by biomedical

intervention. I took my child, who had already been diagnosed with motor

dyspraxia by a

developmental ped, to a DAN doctor when he was four, almost five. The doctor

who assessed him said she doubted whether he was even on the spectrum, and

spectrum for her included ADHD. She watched him for about an hour. She still

felt that she could help us, because she perceived all delays as being related

to heavy metals. In our case, she felt that the DAN approach could help his

fine motor delays. We implemented the typical barrage of DAN-based treatments

including vitamins, minerals, and other interventions. We did this for a

year, and also changed his diet to strict GFCF and tried LOD for a while. He is

currently off all supplements except for Pro-EFA, Pro-EPA, a regular

multivitamin, zinc, and magnesium. He had a very bad week last week when he

was

overloaded with sugar. I know that diet plays a role for him, and will continue

to use enzymes, or completely eliminate certain foods. We are all eating

better since DAN. But even on the original " food allergy " test that we had

done,

he had very few foods that he showed reactions to - the handful of items

that he did show reactions to were 2s - there was was one 3 - it was for barley

which translates into malt - we'll continue to avoid that and milk since even

his ENT said that might be beneficial due to his constant ear infections.

He continues to be on zinc and magnesium because, as I wrote before, we

tried chelation for 3 months. It did not help him, but did result in his

minerals

being severely depleted. At the beginning of DAN treatment, I felt that the

minerals and vitamins were " awakening " him. I still question that. That is,

did they " awaken " him or did he show developmental gains that he would have

achieved anyway. Was I so desperate to see gains that I convinced myself

that these things were helping? His fine motor skils, the main issue that

caused us to seek out the help of a DAN, remain the issue that sets him apart

from others. He has friends, is in a regular pre-K, does not engage in any

self-stim behaviors. For me the main eye-opening event about how he was

obviously

not autistic came when I met another mom whose son had a HFA autism dx at a

Mc's and compared that child to my son. I posted an email several months

back about the profound differences between the two. I would respectfully

disagree that the prognosis for a child with autism is the same as a child with

another delay like apraxia or dyspraxia. I have seen many cases where kids

with HF autism improve dramatically or even recover, so I know that's

possible. I also think that the DAN approach has helped many of these children.

I

still think, though, that there are bigger obstacles to overcome between my

son and the little boy we met at Mc's that day. I don't think that puts

me in denial.

Here's what I'm worried about: That other parents will, like me, shell out

upwards of 15,000 for testing, supplements, prescription meds, etc. and find

themselves in essentially the same place they were in before. If they're like

me, they'll try anything that may help but won't hurt, because they are so

very desperate to ensure that their child has a good life and attends a regular

school with friends and other typical, average things. I'll be honest, I

always thought my child would have an " extraordinary " life, and now I'm praying

for average. I was always determined to teach my child to be the one who

befriended the little boy or girl who sat alone on the school bus or didn't

quite

fit in. Now I'm wanting to ring the necks of those parents whose children

point out that he's scribbling or can't complete an art project. This is a

desperate situation we're all in, and I know that there is a common theme - I

felt it - that any child with any delay would benefit from biomedical

intervention. As someone who tried it all and never saw improvement in the one

area

that I was seeking improvement (fine motor), I am writing again to share my

experience. As you may or may not be aware, I was one of the parents who

really pushed others towards biomed before. At times, I was incredibly angry and

frustratred by posts on this list that seemed to suggest that biomed was a bad

choice. I feel it's important to share what happened with us over the course

of the past year.

I do think it's important to get as many professional evaluations done as

possible. Spend the money on these. See more than one developmental ped. If you

have an HMO, like I do, get on board with a dev ped through the HMO but also

find the very best dev ped in your area and get your child in to see him/her

too. I am beginning to feel more and more strongly that the best doctor you

can see is one who refuses to take insurance. That doctor will have only your

child's interests at heart, NOT the interests of the insurance company.

As an aside, I also think that there are PLENTY of traditional approaches

that are taken for autistic kids that might help apraxic/dyspraxic kids or

others with delays (the recent discussioin re: " visual supports " comes to mind)

and that it does a disservice to all if we shun those approaches because

embracing them might move apraxia/dyspraxia closer to autism. Autism isn't

contagious.

Just as an aside, let's assume that everyone who has diagnosed my son so far

(well, the dev ped dxd him, but all of his provider reports say the same)

got it wrong, I'm in denial, and he really has autism. Even if that were the

case, we tried biomed and, again, having stripped virtually all of his

supplements away, I can't say that it brought us any closer to " fixing " the

issue

that continues to cause us the gravest concern.

In a message dated 2/20/2006 4:42:06 AM Pacific Standard Time,

eberlein@... writes:

I think that apraxia, expressive language delay, sensory issues,

echolalia and social issues together do suggest an autism spectrum

disorder. It is not uncommon for kids with autism to have apraxia.

Getting an early diagnosis gives you the opportunity to implement

effective early intervention, which is so important for children with

autism.

Many children on the spectrum are quite interested in socializing, but

don't have the skills they need to interact successfully with peers.

My son has always been high-functioning, and he is very affectionate

and wants to socialize with other kids. It's a misconception that

children on the autism spectrum are not loving and affectionate; many

of them are. One of the key things you can look for as she gets older

is the development of theory of mind - the ability to see situations

from another person's perspective, and the understanding that others

have different feelings and thoughts from her. Simon Baron-Cohen has

written a lot about theory of mind. Your daughter is too young at this

point for you to know if she will develop this normally. Kids on the

spectrum do not have age appropriate theory of mind.We are now

focusing much of my son's ABA therapy on teaching theory of mind (he

is 6).

Autism and PDD-NOS are just behavioral labels. It doesn't change her

issues or her long-term prognosis. The label can however suggest

helpful therapies and biomed treatments that have worked for other

children with the same label and similar issues.

Did any of your daughter's doctors ever do a CHAT screening for her?

The CHAT checks for things like joint attention, pointing and pretend

play in a child, and is usually administered between 18 and 24 months.

take care,

[Guest guest]

I think that apraxia, expressive language delay, sensory issues,

echolalia and social issues together do suggest an autism spectrum

disorder. It is not uncommon for kids with autism to have apraxia.

Getting an early diagnosis gives you the opportunity to implement

effective early intervention, which is so important for children with

autism.

Many children on the spectrum are quite interested in socializing, but

don't have the skills they need to interact successfully with peers.

My son has always been high-functioning, and he is very affectionate

and wants to socialize with other kids. It's a misconception that

children on the autism spectrum are not loving and affectionate; many

of them are. One of the key things you can look for as she gets older

is the development of theory of mind - the ability to see situations

from another person's perspective, and the understanding that others

have different feelings and thoughts from her. Simon Baron-Cohen has

written a lot about theory of mind. Your daughter is too young at this

point for you to know if she will develop this normally. Kids on the

spectrum do not have age appropriate theory of mind.We are now

focusing much of my son's ABA therapy on teaching theory of mind (he

is 6).

Autism and PDD-NOS are just behavioral labels. It doesn't change her

issues or her long-term prognosis. The label can however suggest

helpful therapies and biomed treatments that have worked for other

children with the same label and similar issues.

Did any of your daughter's doctors ever do a CHAT screening for her?

The CHAT checks for things like joint attention, pointing and pretend

play in a child, and is usually administered between 18 and 24 months.

take care,

>

> Hi,

> I am curious as to how many people have children with apraxia and

> sensory issues who have been misdiagnosed as on the autistic

> spectrum. My daughter is 3 now and is about a year behind in

> expressive language though her receptive is age appropriate. She

> definitely has sensory issues which we receive ot for and has made

> tremendous strides w/ a prompt trained speech therapist. She is up

> to multiple word sentences though she is very difficult to

> understand. She still resorts to crying (and recently tantruming)

> when she is frustrated instead of using her words. She is also

> somewhat echolalic (copies what we say) She however has a

> tremendous interest in socializing with other children and adults

> though because of her issues her social skills are weak. She is very

> affectionate and also pretty hyper.

> We do not officially have a diagnosis of PDD-NOS (it has been

> brought up by her therapists, though one dev. ped. declined to

> diagnose her at this point and another pediatrician thinks

> she " likely is PDD-NOS or high functioning autism " ).

>

> I am wondering about the people who KNOW their children are not on

> the autistic spectrum, but KNOW that they have sensory issues and

> apraxia. What does that look like? What is the difference? I am

> wondering if we have been somewhat misdiagnosed or if we are just in

> denial? She is DEF. not classically autistic, of that we are sure,

> but the " spectrum " is just so wide. Any help or experiences in this

> area would be greatly appreciated. You can e-mail me privately if

> you prefer.

>

> Thank you so much, I learn so much from lurking here

>

>

>

[Guest guest]

hi- i hope you dont mind my responding buty there is a test called the ados

for autism, children with aspergers have 0 eye contact. the ados is a 300

dollar test here although there are some who will do it for as little as 35

dollars. you can read about the ados on the internet. pdd meets a certain amount

of

criteria but not all of the criteria . according to the definition set forth

in the dsm-iv (American psychiatric association, 1994), pdd is characterized by

severe and pervasive impairment in several areas of development; social

interaction skills 2 communication skills or3 the presence of stereotyped

behavior,

interests, and activities 5 types of

pdd 1 autistic disorder, sometimes referred to as early infantile autism

or childhood autism, is 4 times more common in boys than in girls, Children

with autistic disorder have a moderate to severe range of communication,

socialization , and behavioral problems. Many with autism also have mental

retardation. The DSM-iv criteria by which autistic disorder is diagnosed are

presented

below. a total of 6 or more items

from1,2, and 3 with at least 2 from 1 and 1 each from 2 and 3

1qualitative impairment in social interaction, as

manifested by atleast 2 of the following;

a) MARKED IMPAIRMENT IN THE USE OF MULTIPLE NONVERBAL BEHAVIORS SUCH AS

EYE-TO-EYE GAZE, FACIAL EXPRESSIONS, BODY POSTURES, AND GESTURES TO REGULATE

SOCIAL

INTERACTION b)FAILURE TO DEVELOP

PEER RELATIONSHIPS APPROPRIATE TO DEVELOPMEWNTAL LEVEL

C A LACK OF

SPONTANEOUS SEEKING TO SHARE ENJOYMENT, INTERESTS, OR ACHIEVEMENTS WITH OTHER

PEOPLE BY LACK OF SHOWING, BRINGING, OR POINTING OUT OBJECTS OF INTEREST

D A LACK OF SOCIAL OR

EMOTIONAL RECIPROCITY

2QUALITATIVE IMPAIRMENTS IN COMMUNICATION AS MANIFESTED BY ATLEAST 1 OF THE

FOLLOWING

A -DELAY IN, OR TOTAL LACK OF, THE DEVELOPMENT OF SPOKEN LANGUAGE

WHICH IS NOT ACCOMPANIED BY AN ATTEMPT TO COMPENSATE THROUGH ALTERNATIVE

MODES OFCOMMUNICATION SUCH AS GESTURE OR MIME

B-IN

INDIVIDUALS WITH ADEQUATE SPEECH, MARKED IMPAIRMENTS IN THE ABILITY TO INITIATE

OR

SUSTAIN CONVERSATION WITH OTHERS C-

STEREOTYPED AND REPETITIVE USE OF LANGUAGE OR IDIOSYNCRATIC LANGUAGE

D-LACK OF VARIED, SPONTANEOUS MAKE BELIEVE PLAY OR SOCIAL IMITATIVE PLAY

APPROPRIATE TO DEVELOPMENTAL LEVEL

3RESTRICTIVE REPETITIVE AND STEREOTYPED PATTERN OF BEHAVIOR, INTERESTS THAT IS

ABNORMAL EITHER IN INTENSITY OR FOCUS B-APPARENTLY

INFLEXIBLE ADHERANCE TO SPECIFIC . NONFUNCTIONAL ROUTINES OR RITUALS

C-STEREOTYPED AND REPETITIVE MOTOR MECHANISMS SUCH AS HAND FLAPPING OR TWISTING,

OR

COMPLEX WHOLE BODY MOVEMENTS. D-PERSISTENT PREOCCUPATION WITH PARTS

OF OBJECT BDELAYS OR ABNORMAL

FUNCTIONING IN ATLEAST ONE OF THE FOLLOWING AREAS, WITH ONSET PRIOR TO AGE 3;

SOCIAL INTERACTION,LANGUAGE AS USED IN SOCIAL COMMUNICATION OR SYMBOLIC OR

IMAGINATIVE PLAY

C THE DISTURBANCE IS NOT BETTER ACCOUNTED FOR BY RETTS DISORDER OR CHILDHOOD

DISINTEGRATIVE DISORDER THE

INFORMATION I HAVE SAVED AND GIVEN TO YOU WAS VERY HELPFUL TO ME FOR MY SON

AS THIS DIAGNOSIS WAS BEING QUESTIONED -CHARLOTTE HENRY

[Guest guest]

You cannot compare your child to another child on the autism spectrum,

regardless of their severity, and say, " well my child doesn't have

issues x, y and z that this child does - so my child must not have

autism " . Children, even high-functioning children, with autism can

look very different, and have very different behaviors. They can be

very affectionate and have great interest in social interaction. A

lack of interest in social interaction is not part of the diagnostic

criteria for autism (it's also not a characteristic of my child with

autism). Disordered social interaction is a characteristic of autism.

My son wants to interact, but he often doesn't interact appropriately,

and this causes him social problems. It's also not the case that

children with autism are not affectionate. Many of them, like my son,

are very affectionate and cuddly. It just depends on the issues of the

specific child.

Certainly there are no guarantees that biomedical treatment will help

a particular child. The quality of the doctor is critical - don't stop

looking until you find a Dan doctor who is working out for you and

your child. The doctor needs to be knowledgeable about the issues

affecting your child. E.g., if your child has PANDAS, you need a doc

who is informed about that. Most of the children I've known who have

been treated with a Dan biomed approach have improved.

>

> Hi, I have 3 boys with different neurological disorders, one of whom

> is on the autistic spectrum. He is our oldest.

>

> When our 3rd was about 18-22 mos we had serious concerns about him

> also being on the spectrum due to his lack of speech and

> inappropriate reactions to peers. He definitely at this point has

> SID and most likely has apraxia (waiting for formal diagnosis). We

> finally stopped thinking he had PDD when we noticed that he LOVES

> being around and interacting with people. He sought out interaction

> (though he may have done it inappropriately), where a PDD child

> would most likely not. He enjoys playing " jokes " on us (screams for

> us to get up like he wants something from the kitchen, then jumping

> in our chair and HOWLING with laughter) which a child with PDD would

> not do.

>

> The biggest difference that I can tell you in our case is that our

> suspected apraxic child is so eager to interact and engage others,

> where our Asperger's child (although he wasn't dx until age 8) could

> talk, but more often chose not to, and certainly didn't talk for

> talking's sake. Lucas (apraxic and SID) is SOOOOOO cuddly and loves

> to be held and snuggled, but our Asperger's child can only be

> touched in certain circumstances in a certain way, and even then

> only by me.

>

> I'm sure there are other differences, and of course every child is

> different. I hope you find the answers you're looking for.

>

> Toni

>

[Guest guest]

>

> You cannot compare your child to another child on the autism

spectrum,

> regardless of their severity, and say, " well my child doesn't have

> issues x, y and z that this child does - so my child must not have

> autism " .

, I could not agree more with you on this.

I just want to let you know, I have been reading all your recent

posts, I thank you so much for sharing, I find what you have to say,

the most insightful! I congratulate you on your daughter's recovery

from apraxia and your boy's almost recovery from autism.

As one parent to another, your story is a true inspiration and a

message of hope. I too will never give up!

You could have walked away from all this, afterall you are not part

of the band, yet you chose to stay and be a roadie and I thank you

for that from the bottom of my heart.

Keep up the good fight!

[Guest guest]

In a message dated 2/20/2006 7:41:42 A.M. Eastern Standard Time,

eberlein@... writes:

One of the key things you can look for as she gets older

is the development of theory of mind - the ability to see situations

from another person's perspective, and the understanding that others

have different feelings and thoughts from her. Simon Baron-Cohen has

written a lot about theory of mind.

SINCE WE ARE ON THE TOPIC...THIS IS KEY TO ME. MY SON JUST RECENTLY SAW

CURIOUS GEORGE. WHAT A WONDERFUL MOVIE FOR THE KIDS, BY THE WAY. HE IS 6 1/2

AND RECENTLY DIAGNOSED AS MODERATELY AUTISTIC. NOW WOULD A MODERATELY

AUTISTIC CHILD SAY, " GEORGE WAS CURIOUS. GEORGE WAS SAD. GEORGE WAS HAPPY.

THE

MAN WITH THE YELLOW HAT WAS MAD. GEORGE WAS SCARED. " AT DIFFERENT AND

APPROPRIATE TIMES OF THE MOVIE? I DO NOT THINK HE IS AUTISTIC, AND I DON'T

THINK I

AM IN DENIAL. I JUST FEEL IN MY HEART THAT HE ISN'T. TO FEEL, TO SENSE

FEELINGS AND EMPATHIZE AND SYMPATHIZE, I FEEL IS A RED FLAG HE IS NOT AUTISTIC.

HE

ALSO SENSED FEAR AND WAS SCARED WHEN WE PUT HIM ON A RIDE WE DID NOT KNOW

WAS SCARY. AND SAID, " I WANT TO GET OUT OF HERE. WHERE'S DADDY'S TRUCK? " ANY

THOUGHTS FROM OTHERS?

THANKS

LORI