Genetic Testing

April 26, 2000

Thanks Judy..... that was exactly what I was looking for.

-----------------------------------------------

>The survey is discussed at:

>http://www.shriver.org/Research/SocialScience/Staff/Wertz/lawjrl.htm

>The relevant section is as follows:

> " A majority of M.D. geneticists, both inside and outside the United

>States, would themselves abort for 15 of the 24 cond

December 11, 2002

Wow Bill, I will certainly circulate, and I applaud this effort. Is this

specific to MT dysfunction or immune system problems?

I would love to be a part of this and help you, and I will send hither and

yon to many of the groups I am on. Of course this

is directly the mission statement of CHILDSCREEN so we will do everything we

can to network for you these families. I am part

of the AGRE list, so this may be the best in terms of multiplicity autism.

I can also put this information on CHILDSCREEN so

that when people go to it, they can contact you and your person over this

study.

I do believe in miracles, I do, I do, I do. I await such an award to fund

the iron study on 6p and also a study on MELISA tests. If you know of a

benefactor willing to give, please have them contact me. This would close

the loop in essence to be able to find the vulnerable infants. In my

opinion it may be infants with not only immune dysfunction, but also

metabolic/nutrient loss dysfunction.

Tell me more on the progression of your thoughts on iron and what you saw

and have seen. I think this is also a wierd wild card in autism, either

main or no, I am not sure? It is definately a subgroup, al beit, iron can

do a million things great, and a million things not so great.

Also, please vote on VOSI's Hyper IgE study at www.voicesofsafety.com as we

feel this may show an immune system on the brinks in the newborn, and is a

sign to delay vaccinations. Any questions, I can forward you the results

of the study.

Your the one that started me to think about this prescreening idea, and your

the one actually doing it. Hurrah for you and hurrah for our children.

Maybe they can kick us when we are down, but we get up again, and rise up

and meet the challenge of stopping this epidemic.

As you know I have a son with autism (21), but I don't have another brother,

only a daughter, (15) so that won't help. Am I amongst the only that has a

son and daughter with autism, and what is your feelings on why as far as MT

is concerned and hormones? Perhaps our immune weaknesss on c4b and stealth

virus and zinc deficiency were very much key to this families misery. And

Joy. I wish you can disappear my children's autism, and you probably would

with your promotion therapy. When I rob a bank, I will let you know when I

am in the money....and I AM THERE.... Have noticed IP-6 therapy was very

useful in chelating iron. I wonder what it does to other metals?

Blessings

Pres of Childscreen

www.childscreen.org

Genetic Testing

> Kathy,

>

> I hope you can help me!

>

> We have finally cleared away the bureaucratic underbrush & are now able to

> proceed with the genetics tests of autistics and controls. If successful,

> this could nail down the cause of autism & enable early-infant screening

for

> autism predisposition.

>

> We are searching the nation for families that include an autistic boy and

a

> non-autistic brother, in which the boys are NOT blood-related. In other

> words, one or both of them is an adoptee. Such a sibling study would

control

> for a multitude of factors (parenting, neighborhood, family stress, etc),

> with a greatly-reduced possibility of both having the genetic flaw (and

only

> one experiencing mercury or other toxic insult which triggered the

autism).

>

> I get the impression that you are connected to a large number of autism

> families via the internet. It would be great if you could broadcast the

fact

> that we are searching for these special sibling pairs. Distance from

> Illinois is not a problem since the blood samples can be drawn from

anywhere

> & shipped to Illinois. Any candidate families should contact Tanika

of

> our research staff: Phone 630/505-0300, ext. 232 or e-mail:

> research@...

>

> Do you believe in miracles? Within 24 hours of getting approval for this

> experiment, we received a huge unexpected donation from the family of an

> autistic boy whose autism is disappearing. Another positive result of

> metallothionein-promotion therapy. The donation was earmarked for autism

> research. Nice timing!

>

> Best regards,

>

> Bill Walsh

>

March 14, 2004

Hi Dora... I am also in the process getting information for that study. I

just got an email from him with an address to send the papers to. I have

been doing a family tree and trying to break it down for him to send via

email was just too much so will be printing out what I have and sending it

to him. My mother knows more of the health history of the family so she is

helping me with it and I am planning to contact a family member on my

fathers side for any information I can get.

susan & hobbes

michigan

implanted 2/23/04

hookup 4/2/04

At 10:35 AM 3/14/2004 -0600, you wrote:

>Hi Joni

>Good to hear that you have contacted the U of Iowa about your family

>participating in a genetic study.My family has been in a genetic linkage

>otosclerosis study there for a few years.

>Dr. came to our home town and did hearing tests and took

>blood samples.There was no cost to us.

>

>Dora Weber

>Nucleus Volunteer Advocate

>dora_weber@...

>

>Bilateral

>N22-96

>N24C-01

>Cochlear Otosclerosis

>

March 15, 2004

Well I have to get the information to him first, then see what

happens. But even if my family doesn't get in the study I will have alot

of information on the medical history of my family down.

susan & hobbes

michigan

implant 2/23/04

hook up 4/2/04

At 09:06 AM 3/15/2004 -0600, you wrote:

>Hi

>Good to hear that you have begun the process with Dr. .Hope all goes

>well.You will enjoy working with him and his team!!They are fun as well as

>very Smart!!

>

>Dora Weber

>Nucleus Volunteer Advocate

>dora_weber@...

>

>Bilateral

>N22-96

>N24C-01

>Cochlear Otosclerosis

>

April 5, 2005

, my daughter has been diagnosed with Oral Motor Apraxia. It

seems to me more like Verbal Apraxia. She never had trouble swallowing or

with straws or blowing. It is her speech which is severly impaired. She is

14. We had genetic testing done when she was very young and Fragile X was

ruled out.

Joyce Cerulo

[ ] genetic testing

>

> The apraxia diagnosis is still very new. We are still searching for

> answers.

> Two slp's have now said that yes apraxia seems to be part of the

> picture for Lucas, but they strongly feel that something else is going

> on. The dev. ped. we saw thought ASD last fall when we saw her, but

> then in February/05 said he did not have ASD.

> We requested a referral for genetic testing and our appointment is in

> June. I have been reading about Fragile X syndrome, because this has

> been mentioned as a possibility before. Has anyone else had genetic

> testing done? Or received a diagnosis of Fragile X?

> So much of what I see in Lucas fits with the apraxia picture, and with

> what I am hearing from other parents....but it also fits with certain

> characteristics of Fragile X(understanding that it is a syndrome and

> exists in varying degrees in those affected.

>

> So confused here, and feeling down in the dumps today:(

>

April 6, 2005

Hi ;

Just a quick note.

We had genetic testing done with our daughter (now 5 yrs old).

The testing was done at Chapel Hill when she was 21 months old.

I can go into more details later but just wanted to ask...

how old is Lucas ? what characteristics are you seeing besides

possible verbal apraxia ?

As far as fragile X, they can detect that fairly easily with

the blood sample.

if you want, give me just a few more details and i will try to

help.

we recently have been introduced to a wonderful genetic counselor

and she has explained alot to me that no one else took the time too

about the whole genetic testing 'thing'.

Lift your head girlfriend !!!

even if you have to push on your on chin !!!

This message board is a lifeline sometimes !

regards,

April 6, 2005

,

My name is Angie and I have a 3 1/2 year old girl. She has a severe speech

delay, sensory intragration dysfunctino, hypotonia, ataxia, motor oral verbal

dyspraxia. She is a real confuser for the Docs. We went to a neurologist last

month and they ordered some genetic tests, fraile x being one of them. They

took 18 tubes of blood and 2 cups of urine, mri scheduled for the 13th and

still waiting for a sleep study to be scheduled. I would have to say the

hardest part is waiting and not knowing. We do not go back to the neur till

June 8th for test results, thats 2 months away. Just to know that someone

else is where you are always seems to help. Angie

" Illerbrun " <illerbrun@...> wrote:

April 6, 2005

,

Okay, I've missed this conversation becuase I've been very sick and

have just today been dealing with the aftermath of a long consult

with our pediatric neurologist on a great number of metabolic tests

she has run.

However, that said, we are currently undergoing genetic testing as

well for our 27-month old daughter who seems to have oral, speech

and motor apraxia, periventirculare demyelination and decelertion of

head growth. ly, we suspect Cerebral Folate Deficiency, a

new " neurological phenomenon, " but the tests have not yet come back

on that one.

Can you tell me more about your son's symptoms, history and medical

testing results? Apraxia can be a good description, for example, of

neurological symptoms, but there may be something else going on that

produces the apraxia. In our case, we know that Lulu has

periventricular demyelination and small thalami, so we know what

is " causing " the apraxia (demyelination), even if we don't yet know

what is " causing " the demyelination.

There are a handful of parents on this list who have, for example,

MRI results for their children -- some MRIs have revealed brain

damage and some have not.

So what are they thinking of checking for in terms of the syndrome

and the genetics?

Best,

Theresa

>

> The apraxia diagnosis is still very new. We are still searching

for

> answers.

> Two slp's have now said that yes apraxia seems to be part of the

> picture for Lucas, but they strongly feel that something else is

going

> on. The dev. ped. we saw thought ASD last fall when we saw her,

but

> then in February/05 said he did not have ASD.

> We requested a referral for genetic testing and our appointment is

in

> June. I have been reading about Fragile X syndrome, because this

has

> been mentioned as a possibility before. Has anyone else had

genetic

> testing done? Or received a diagnosis of Fragile X?

> So much of what I see in Lucas fits with the apraxia picture, and

with

> what I am hearing from other parents....but it also fits with

certain

> characteristics of Fragile X(understanding that it is a syndrome

and

> exists in varying degrees in those affected.

>

> So confused here, and feeling down in the dumps today:(

>

April 6, 2005

My son was tested for fragile X, because at the time the school thought he was

retarded, and I was looking for answers. The results came back negative for

the disorder. My son was 8 at the time. It was a neurologist who had ordered

the test. We did see a geneticist who said that he thought my son had a

language disability.

Good Luck

Lorraine

-------------- Original message --------------

The apraxia diagnosis is still very new. We are still searching for

answers.

Two slp's have now said that yes apraxia seems to be part of the

picture for Lucas, but they strongly feel that something else is going

on. The dev. ped. we saw thought ASD last fall when we saw her, but

then in February/05 said he did not have ASD.

We requested a referral for genetic testing and our appointment is in

June. I have been reading about Fragile X syndrome, because this has

been mentioned as a possibility before. Has anyone else had genetic

testing done? Or received a diagnosis of Fragile X?

So much of what I see in Lucas fits with the apraxia picture, and with

what I am hearing from other parents....but it also fits with certain

characteristics of Fragile X(understanding that it is a syndrome and

exists in varying degrees in those affected.

So confused here, and feeling down in the dumps today:(

April 7, 2005

You might want to have your son tested for 5-MTHFR. This is a genetic disorder

that effects speech and processing. You want to catch this one early. Let me

know if you want the info for testing.

---------------------------------

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April 7, 2005

Lorraine,

What was the basis of the geneticist's diagnosis (ie, what further did he do to

make this determination, other genetic testing? or was it based upon interviews

with you and your son)? Just curious as to what a geneticist would have to

offer. Thanks.

Original Message -----

From: boudreaulorraine@...

Sent: Wednesday, April 06, 2005 7:18 PM

Subject: Re: [ ] genetic testing

My son was tested for fragile X, because at the time the school thought he was

retarded, and I was looking for answers. The results came back negative for

the disorder. My son was 8 at the time. It was a neurologist who had ordered

the test. We did see a geneticist who said that he thought my son had a

language disability.

Good Luck

Lorraine

-------------- Original message --------------

The apraxia diagnosis is still very new. We are still searching for

answers.

Two slp's have now said that yes apraxia seems to be part of the

picture for Lucas, but they strongly feel that something else is going

on. The dev. ped. we saw thought ASD last fall when we saw her, but

then in February/05 said he did not have ASD.

We requested a referral for genetic testing and our appointment is in

June. I have been reading about Fragile X syndrome, because this has

been mentioned as a possibility before. Has anyone else had genetic

testing done? Or received a diagnosis of Fragile X?

So much of what I see in Lucas fits with the apraxia picture, and with

what I am hearing from other parents....but it also fits with certain

characteristics of Fragile X(understanding that it is a syndrome and

exists in varying degrees in those affected.

So confused here, and feeling down in the dumps today:(

April 7, 2005

" S. " <donabug2001@...> wrote:

Hi ,

I saw your e-mail and can you tell me what would be seen in a child with a

mutation of the 5-MTHFR gene? This is in regards to receptive and expressive

abilities?

Thanks,

Anita

You might want to have your son tested for 5-MTHFR. This is a genetic disorder

that effects speech and processing. You want to catch this one early. Let me

know if you want the info for testing.

---------------------------------

Messenger

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April 7, 2005

hi-we did genetic testing and it was normal. our son is 4,5 and has apraxia

and sid charlotte henry

April 7, 2005

HI STEPHANIE-WE DID GENETIC TESTING-THEY ONLY TOOK 1 TUBE OF BLOOD AND IT

TOOK 3 WEEKS TO GET THE RESULTS BACK-ALL NORMAL- IVE BEEN TOLD WITH GENETIC

ABNORMALITIES THERE ARE FACIAL CHARACTERISTICS USUALLY-HOPE THIS HELPS SOME

-CHARLOTTE HENRY

April 7, 2005

Please be aware that facial characteristics can be very subtle. Most people

(almost everyone, and most drs never noticed my daughters facial characteristics

and she has smith-magenis syndrome) syndromes vary in symptoms just like

autisim. Rhonda

Re: [ ] genetic testing

hi-we did genetic testing and it was normal. our son is 4,5 and has apraxia

and sid charlotte henry

April 7, 2005

,

It was a 2 hour appointment. 1 hour was with the geneticist. He did a complete

physical exam. He measured his head, looked at his eyes, nose, mouth, neck,

chest, heart, abdomen, skin and had him walk around. He even looked at his hands

and made a comment about his palm length and 3rd finger, and feet. He looked

at lab work results that had previously been done. All the lab work came back

in the normal range. 1 hour was with an assistant doing a complete family

history chart. They asked about my husbands and my parents, brothers, sisters,

aunts, uncles, cousins, children. He ordered a fragile x because it hadn't

been done. It came back normal. He said that they have no specific genetic

diagnosis for him, but his condition most likely has an underlying genetic

basis. Unfortunately we do not have specific gene tests for the various

learning handicaps as yet. It was interesting, but not really as informative

as I was hoping.

Good Luck

Lorraine

--------- Re: [ ] genetic testing

My son was tested for fragile X, because at the time the school thought he was

retarded, and I was looking for answers. The results came back negative for

the disorder. My son was 8 at the time. It was a neurologist who had ordered

the test. We did see a geneticist who said that he thought my son had a

language disability.

Good Luck

Lorraine

April 8, 2005

What is a DAN! doctor? I am new to this board and new

to the world of apraxia.

March 8, 2007

paulette, been watched GMA since 8:33am after I read ur message. Obviously i missed it. so, what was the message, please? just brief one, okay? thanks, kkpbeurrier@... wrote: Good Morning America is doing a piece on genetic testing sometime between 8:00 and 9:00 this morning (Thursday). ette

March 8, 2007

The piece was about a couple who chose genetic testing of their embryos before artificial insemination. The reason was the father has a gene for colon cancer. His mother and her 2 brothers both died of colon cancer and he has an 85% chance of developing it. It wasn't clear if they checked for anything else but the cancer gene, but they destroyed the 4 embryos carrying the gene, implanted 2 and 1 survived to birth. The mother is now pregnant again the same way.

There is a message board which I plan to post to: http://forums.go.com/abcnews/GMA/thread?threadID=542044. I need to formulate my opinion! The case provided made sense, but it is not something I would do. The doctor interviewed on the show said that this case is clear, of course colon cancer is not something you want for your child. His opinion was people would not use this for designer babies, but then commented on the "grey area". The problem I see is the grey area is larger for many people.

One problem I have with this is that it will be the educated, wealthy people who can afford the big expense of it. That leaves the less educated, less wealthy people who end up with children they are less able to care for. This stinks of class-ism. I don't mean uneducated, poor people can't raise children well, it would just be much more difficult for them.

ette

-------------- Original message from KATHLEEN TRIPP <ktripp99@...>: --------------

paulette,

been watched GMA since 8:33am after I read ur message. Obviously i missed it. so, what was the message, please? just brief one, okay? thanks, kkpbeurrieratt (DOT) net wrote:

Good Morning America is doing a piece on genetic testing sometime between 8:00 and 9:00 this morning (Thursday).

ette

February 20, 2008

Hi -

We adopted Josh when he was 4 days old. We had been given minimal

information, and what we were given turned out to be " creative, " shall we say?

So, after getting some diagnoses of conditions (hypotonia, verbal/oral apraxia,

sensory integration dysfunction, cognitive delays, not on spectrum), and what

some docs were calling Dandy Variant at the time, when Josh was about 4

we tried to get him into a research study on DWV. When the docs there looked at

his MRI's they said it wasn't DWV so we were back at square one not knowing what

" umbrella " condition included all that Josh has (or if there even was one).

So, the ped neuro for the study suggested we hook up with Shriner's Hospitals

- he would continue as Josh's neuro there. They did a whole slew of genetic

tests - 8 vials worth of blood - and nothing showed up. When Josh was about 8,

I found, searching the net, references to -Magenis Syndrome - which sounded

amazingly like Josh (everyone who looked at the list of symptoms said, holy cow,

that's Josh) - blood test for that one showed, nope, it wasn't Josh (he did have

all the symptoms except that chromosomal anomaly! go figure!).

I recently took Josh (now 9 1/2 yo) back for his yearly follow-up at Shriner's

and the neuro suggested I take him down for blood tests for the micro array that

it sounds like you had. Doc tried to explain that they look at something like

50,000 bits of material to see if there are any deletions or " missing " genes,

then they try to match it up with the conditions Josh has to see if it fits any

recognized condition. I should get results around the second week of March.

I'll mark your email for follow-up just to let you know how the tests turned

out.

As the neuro said, if something shows up, it will likely not result in any

changes in therapies or anything that Josh is already doing/getting/having.

But, there is some comfort in knowing there is a reason, and, for benefits

purposes as he gets older, it may/will ease the way through the governmental

mazes.

Sherry and Josh

<fourxtrouble@...> wrote:

I was wondering if anyone has opted to have genetic testing for their

child? What were the findings?

We recently had a micro array (they look at each gene on a

chromosomes). They found that he is missing the small arm of chromosome

16. That is what I know so far. They haven't really discussed what this

means for him and if is what is causing his apraxia and autism. There

has been a recent report out that says some kids with autism have a

deletion on chromosome 16. He did have the test where they look just at

the chromosomes (not the genes) and didn't find any out of the norm.

I'm confused and the internet isn't the place to look for things like

this. Just interested in finding out if anyone else has similar

findings.

February 20, 2008

We did have genetic testing (it seems the standard at

the Army hospital after a diagnosis of autism). We

found that my son has Klinesfelter syndrome- also

known as Male XXY syndrome. Instead of having one X

and one Y chromosome, he has two Xs and a Y . It

causes him to have some slightly feminine features,

later problems with sexual reproduction and the

communication/social delays.

This came out of left field for us, as we had never

considered the possibility that the problem lays in

genetics.

Good luck

--- <fourxtrouble@...> wrote:

> I was wondering if anyone has opted to have genetic

> testing for their

> child? What were the findings?

>

> We recently had a micro array (they look at each

> gene on a

> chromosomes). They found that he is missing the

> small arm of chromosome

> 16. That is what I know so far. They haven't really

> discussed what this

> means for him and if is what is causing his apraxia

> and autism. There

> has been a recent report out that says some kids

> with autism have a

> deletion on chromosome 16. He did have the test

> where they look just at

> the chromosomes (not the genes) and didn't find any

> out of the norm.

>

> I'm confused and the internet isn't the place to

> look for things like

> this. Just interested in finding out if anyone else

> has similar

> findings.

>

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March 1, 2008

Hi Sherry,

I can't keep up with this board anymore. I save every email digest,

but I'm about 250 behind! I just saw your email and had to comment.

My son does have SMS. I don't know how thorough your testing was, but

there are many in your situation. There is actually a researcher

(very nice person, too) who is interested in people who appear to

have -Magenis Syndrome but test negative. She has found several

different mutations, which could not be found with the regular

testing that is done for SMS. In case you didn't know about it, I am

passing on this information to you from the PRISMS web site. She (Dr.

Elsea) responded to my emails immediately.

Virginia Commonwealth University : Projects in Dr. Elsea's lab

are focused on the molecular analysis of chromosome 17p11.2 deletions

and the identification and analysis of the genes involved in SMS.

Recent studies in Dr. Elsea's lab led to the identification of the

RAI1 gene as the primary culprit in SMS. Mutation or deletion of

this gene can lead to -Magenis syndrome. The precise function

of the RAI1 protein is not yet clear. Studies in the lab are also

focused on determining the normal function of this protein in the

cell and in development and behavior.

While Dr. Elsea is interested in all 17p11.2 deletions, SHE IS

PARTICULARLY INTERESTED IN INDIVIDUALS WHO HAVE CLINICAL FEATURES OF

SMS BUT WHO DO NOT HAVE DOCUMENTED CHROMOSOME 17 DELETION.

Evaluation of the RAI1 gene in persons fitting these criteria can be

performed on a research basis. For more information, call Dr. Elsea

at (804) 628-0987 or send an email to selsea@...

>

> Hi -

>

> We adopted Josh when he was 4 days old. We had been given

minimal information, and what we were given turned out to

be " creative, " shall we say? So, after getting some diagnoses of

conditions (hypotonia, verbal/oral apraxia, sensory integration

dysfunction, cognitive delays, not on spectrum), and what some docs

were calling Dandy Variant at the time, when Josh was about 4

we tried to get him into a research study on DWV. When the docs

there looked at his MRI's they said it wasn't DWV so we were back at

square one not knowing what " umbrella " condition included all that

Josh has (or if there even was one).

>

> So, the ped neuro for the study suggested we hook up with

Shriner's Hospitals - he would continue as Josh's neuro there. They

did a whole slew of genetic tests - 8 vials worth of blood - and

nothing showed up. When Josh was about 8, I found, searching the

net, references to -Magenis Syndrome - which sounded amazingly

like Josh (everyone who looked at the list of symptoms said, holy

cow, that's Josh) - blood test for that one showed, nope, it wasn't

Josh (he did have all the symptoms except that chromosomal anomaly!

go figure!).

March 1, 2008

Hi ,

Just wanted to say my son is missing a small piece of chromosome 17.

He has apraxia, hypotonia, and some other issues, but does not have

autism. It is probably best to wait until your doctor can find out

exactly what is missing on chromosome 16. Different missing genes can

cause completely different symptoms/characteristics/syndromes. It

could be very misleading (not to mention depressing) to read about

syndromes that may not even apply to your son. You may have

discovered that already. I can give you a couple of websites that

will give you specific information on syndromes for specific missing

pieces of chromosomes if you are interested. Since I can't seem to

keep up with the posts from this board, it might be better if you

email me off-line, or I might not get the message for a long time.

Good luck, hope things work out the best possible way for you and

your family. Gretchen

>

> I was wondering if anyone has opted to have genetic testing for

their

> child? What were the findings?

>

> We recently had a micro array (they look at each gene on a

> chromosomes). They found that he is missing the small arm of

chromosome

> 16. That is what I know so far. They haven't really discussed what

this

> means for him and if is what is causing his apraxia and autism.

There

> has been a recent report out that says some kids with autism have a

> deletion on chromosome 16. He did have the test where they look

just at

> the chromosomes (not the genes) and didn't find any out of the

norm.

>

> I'm confused and the internet isn't the place to look for things

like

> this. Just interested in finding out if anyone else has similar

> findings.

>

March 1, 2008

It depends on what types of genteric testing they are doing. My son

was tested last summer,(still going though it) they took 4 vials of

blood. The first test showed nothing. The other test(I think it was a

refract test, But I am really not sure) They found a Q10 deletion. It

is a small deletion sometimes grouped with fox p2. Fox p2 has been

rerefered to the speach gene. So your genetic tests done, may not have

been complete. There are some new tests that showed deletions which

were missed before. I wish I could remember the names of the tests,

but it has been almost a year since we started this process. He was

tested at Yale New Haven Hopsital. The newer tests take months to get

back. Good luck! I hope my experience helped you out!

>

> HI STEPHANIE-WE DID GENETIC TESTING-THEY ONLY TOOK 1 TUBE OF BLOOD

AND IT

> TOOK 3 WEEKS TO GET THE RESULTS BACK-ALL NORMAL- IVE BEEN TOLD WITH

GENETIC

> ABNORMALITIES THERE ARE FACIAL CHARACTERISTICS USUALLY-HOPE THIS

HELPS SOME

> -CHARLOTTE HENRY

>

March 1, 2008

OMG! Thank you Gretchen!! When we got the results back from the SMS testing

and he didn't show as having it, I kept asking if maybe there were some

mutations that wouldn't have shown up on the tests that were done, was there

some other deletion that was possible and not addressed in the test but still

" qualified " as SMS, since he had all the symptoms of SMS but not the chromosomal

anomaly wasn't it possible that SMS affected more than one gene, etc.? No one

was answering me and no one would OK further testing (meaning his pediatrician -

I had to fight him to get the OK for the SMS testing!) since it wasn't

" medically necessary " (I hate that phrase - how about " future life

necessary?? " ). I will contact Dr. Elsea right away. I should be getting the

results back this coming week on the other genetic testing so maybe that would

be good to have prior to contacting her. I'll have to pry the SMS test results

out of Josh's pediatrician's hands, also, before contacting Dr.

Elsea.

Thank you so much for sending this info!

Sherry

Gretchen <gpmhajh@...> wrote: