RE: Anyone with a genetic disorder?

[Guest guest]

Did they give it a name?

Tammy

Anyone with a genetic disorder?

I am looking to talk to or email to anyone who knows a child or has a child

with a micro deletion relating to Chromosome 13.

We found out at Cincinnati Children's Hospital that my son, now 11, has a

micro deletion. We have thought that he had autism since he was 4 so this is

quite a turn of events.

I am looking for support. He has autistic features but never quite " fit " into

the Autism criteria the way people usually do. He was always, " well if he has

it, it is very mild " but has seizures and digestive issues and all of that.

Thanks.

April Cullins

aprilcullins@...

[Guest guest]

How did you find out? What tests did they do?

----- Receiving the following content -----

From: april cullins

Receiver: enzymes autism,jp7615

Time: 2009-10-27, 14:17:00

Subject: Anyone with a genetic disorder?

>I am looking to talk to or email to anyone who knows a child or has a child

with a micro deletion relating to Chromosome 13.

>

>We found out at Cincinnati Children's Hospital that my son, now 11, has a micro

deletion. We have thought that he had autism since he was 4 so this is quite a

turn of events.

>

>I am looking for support. He has autistic features but never quite " fit " into

the Autism criteria the way people usually do. He was always, " well if he has

it, it is very mild " but has seizures and digestive issues and all of that.

>

>Thanks.

>April Cullins

>aprilcullins@...

>

>

>

>

>

[Guest guest]

You know I have always suspected I do.My autism seems so unusual.I have all the

features of the most severe autism,and developmental delay,except for

intellectual disability.I had such weird issues with physical and sexual

development,that nobody else seems to have,and I have had so many unexplained

medical problems,that this could well be the only answer.But it would be

something so unusual,if not unknown,that I have given up on finding an answer

here.

                                      

From: Tammy Kuhn <tkuhn1@...>

Subject: Re: Anyone with a genetic disorder?

Date: Tuesday, October 27, 2009, 3:28 PM

 

Did they give it a name?

Tammy

Anyone with a genetic disorder?

I am looking to talk to or email to anyone who knows a child or has a child with

a micro deletion relating to Chromosome 13.

We found out at Cincinnati Children's Hospital that my son, now 11, has a

micro deletion. We have thought that he had autism since he was 4 so this is

quite a turn of events.

I am looking for support. He has autistic features but never quite " fit " into

the Autism criteria the way people usually do. He was always, " well if he has

it, it is very mild " but has seizures and digestive issues and all of that.

Thanks.

April Cullins

aprilcullins

[Guest guest]

How do you find out if your child has a genetic mutation? Where do you go?

What do they do? And is it expensive?

_____

From:

[mailto: ] On Behalf Of april cullins

Sent: Tuesday, October 27, 2009 2:17 PM

enzymes autism; jp7615@...

Subject: Anyone with a genetic disorder?

I am looking to talk to or email to anyone who knows a child or has a child

with a micro deletion relating to Chromosome 13.

We found out at Cincinnati Children's Hospital that my son, now 11, has a

micro deletion. We have thought that he had autism since he was 4 so this

is quite a turn of events.

I am looking for support. He has autistic features but never quite " fit "

into the Autism criteria the way people usually do. He was always, " well if

he has it, it is very mild " but has seizures and digestive issues and all of

that.

Thanks.

April Cullins

aprilcullins@ <mailto:aprilcullins%40>

[Guest guest]

If it's a really rare or unique one you could go your whole life and not find

out what the problem is.

                                                    

From: Jefferson <jamie@...>

Subject: RE: Anyone with a genetic disorder?

, jp7615@...

Date: Tuesday, October 27, 2009, 8:53 PM

 

How do you find out if your child has a genetic mutation?

Where do you go?

What do they do? And is it expensive?

_____

From:

[mailto:] On Behalf Of april cullins

Sent: Tuesday, October 27, 2009 2:17 PM

enzymes autism; jp7615@...

Subject: Anyone with a genetic disorder?

I am looking to talk to or email to anyone who knows a child or has a child

with a micro deletion relating to Chromosome 13.

We found out at Cincinnati Children's Hospital that my son, now 11, has a

micro deletion. We have thought that he had autism since he was 4 so this

is quite a turn of events.

I am looking for support. He has autistic features but never quite " fit "

into the Autism criteria the way people usually do. He was always, " well if

he has it, it is very mild " but has seizures and digestive issues and all of

that.

Thanks.

April Cullins

aprilcullins@ <mailto:aprilcullin s%40. com>

[Guest guest]

My daughter who does not have the autism diagnosis has some unidentified genetic

syndrome. They have not found out what gene or chromosome it is related to and

have not found a named syndrome that fits her after 6 years of searching for

answers. She best fits into the Cornelia deLange Syndrome, which ironically

often causes autistic traits as do many genetic syndromes. My son with autism

doesn't have any signs of a genetic syndrome, but has not been tested for any

either. I am debating on whether or not to test him, will it make any

difference? I just don't know. I have autism so it is apparent to me that

genetics are involved here, but his autism is more involved than mine so I think

that maybe environmental factors play a role here as well. I am currently

suffering from some unknown condition that is wreaking havoc on my body, looking

for answers for me as well.

>

> I am looking to talk to or email to anyone who knows a child or has a child

with a micro deletion relating to Chromosome 13.

>  

> We found out at Cincinnati Children's Hospital that my son, now 11, has a

micro deletion.  We have thought that he had autism since he was 4 so this is

quite a turn of events.

>  

> I am looking for support.  He has autistic features but never quite " fit " into

the Autism criteria the way people usually do.  He was always, " well if he has

it, it is very mild " but has seizures and digestive issues and all of that. 

>  

> Thanks.

> April Cullins

> aprilcullins@...

>

>

>

>

>

[Guest guest]

after 4 years of doctoring, and moving from doc to doc, we were sent to

HOpkins Bio chemical geneticist, Dr. Rich Kelley. They did

testing due to multiple medical issues no one could explain. DNA

testing is very expensive, to my understanding it is not something that

they can just look at every gene in an instant. For instant their current

equipment can look at all 3000 GENES, but look at 800,000 cells that

comprise those genes. But it is not a drop of something and it tells you

which Gene is the problem immediately, but they take a grouping of

symptoms and check those particular cells. For instance, my daughter had

to have 1 blood test to look for Glut 1 deficincy, there was only 1 lab in

the country that could do the test. ANd HOpkins called 8 major

hospitals in PA to actually draw the blood and send it overnight they way

Atlanta Georgia required it to be drawn. AFter much searching they got

another Bio Chemical Geneticist in Hershey to order the blood test and ship

it to Georgia. To do the 2 DNA tests for it, cost 1185.00 EACH. our

insurance covered part of both, but not all, and they covered it, because

she has an extensive history and it was ordered by HOpkins. So it's

not like ordering a test for an infection or what minerals they are

deficient in....

hopkins has told us that in March, their new equipment will be able to

read over 1 million cells, so that is promising.... HOpe this helps..

Jen

Anyone with a genetic disorder?

>

>

>

>

>

> I am looking to talk to or email to anyone who knows a child or has a

> child

> with a micro deletion relating to Chromosome 13.

>

> We found out at Cincinnati Children's Hospital that my son, now 11, has a

> micro deletion. We have thought that he had autism since he was 4 so this

> is quite a turn of events.

>

> I am looking for support. He has autistic features but never quite " fit "

> into the Autism criteria the way people usually do. He was always, " well

> if

> he has it, it is very mild " but has seizures and digestive issues and all

> of

> that.

>

> Thanks.

> April Cullins

> aprilcullins@ <mailto:aprilcullins%40>

>

>

[Guest guest]

So you have to have a suspicion of a particular gene being defective or

deleted or you are searching for a needle in a haystack?

Is there any advantage to finding out if your child has a micro deletion or

a genetic variant contributing to the autism?

_____

From:

[mailto: ] On Behalf Of thesweetattack

Sent: Wednesday, October 28, 2009 5:12 PM

Subject: Re: Anyone with a genetic disorder?

after 4 years of doctoring, and moving from doc to doc, we were sent to

HOpkins Bio chemical geneticist, Dr. Rich Kelley. They did

testing due to multiple medical issues no one could explain. DNA

testing is very expensive, to my understanding it is not something that

they can just look at every gene in an instant. For instant their current

equipment can look at all 3000 GENES, but look at 800,000 cells that

comprise those genes. But it is not a drop of something and it tells you

which Gene is the problem immediately, but they take a grouping of

symptoms and check those particular cells. For instance, my daughter had

to have 1 blood test to look for Glut 1 deficincy, there was only 1 lab in

the country that could do the test. ANd HOpkins called 8 major

hospitals in PA to actually draw the blood and send it overnight they way

Atlanta Georgia required it to be drawn. AFter much searching they got

another Bio Chemical Geneticist in Hershey to order the blood test and ship

it to Georgia. To do the 2 DNA tests for it, cost 1185.00 EACH. our

insurance covered part of both, but not all, and they covered it, because

she has an extensive history and it was ordered by HOpkins. So it's

not like ordering a test for an infection or what minerals they are

deficient in....

hopkins has told us that in March, their new equipment will be able to

read over 1 million cells, so that is promising.... HOpe this helps..

Jen

Anyone with a genetic disorder?

>

>

>

>

>

> I am looking to talk to or email to anyone who knows a child or has a

> child

> with a micro deletion relating to Chromosome 13.

>

> We found out at Cincinnati Children's Hospital that my son, now 11, has a

> micro deletion. We have thought that he had autism since he was 4 so this

> is quite a turn of events.

>

> I am looking for support. He has autistic features but never quite " fit "

> into the Autism criteria the way people usually do. He was always, " well

> if

> he has it, it is very mild " but has seizures and digestive issues and all

> of

> that.

>

> Thanks.

> April Cullins

> aprilcullins@ <mailto:aprilcullins%40>

>

>

[Guest guest]

Yes, that's close...... It takes approx 6 weeks to get testing back for 1

type test.... usually due to certain symptoms is where a specialist doc can

help you with that....

Advantage? not sure that their is one other than the fact that you would

have a answer of why or how---

Anyone with a genetic disorder?

>>

>>

>>

>>

>>

>> I am looking to talk to or email to anyone who knows a child or has a

>> child

>> with a micro deletion relating to Chromosome 13.

>>

>> We found out at Cincinnati Children's Hospital that my son, now 11, has a

>> micro deletion. We have thought that he had autism since he was 4 so this

>> is quite a turn of events.

>>

>> I am looking for support. He has autistic features but never quite " fit "

>> into the Autism criteria the way people usually do. He was always, " well

>> if

>> he has it, it is very mild " but has seizures and digestive issues and all

>> of

>> that.

>>

>> Thanks.

>> April Cullins

>> aprilcullins@ <mailto:aprilcullins%40>

>>

>>

[Guest guest]

It might depend on what you're looking for. Our test was not nearly so

complicated. When my daughter and I were tested for the MTHFR mutation, it

was a blood draw at our local lab. I don't really remember now how long it

took , we had other typical things tested at the same time. Insurance

covered it...

in MD

Re: Anyone with a genetic disorder?

after 4 years of doctoring, and moving from doc to doc, we were sent to

HOpkins Bio chemical geneticist, Dr. Rich Kelley. They did

testing due to multiple medical issues no one could explain. DNA

testing is very expensive, to my understanding it is not something that

they can just look at every gene in an instant. For instant their current

equipment can look at all 3000 GENES, but look at 800,000 cells that

comprise those genes. But it is not a drop of something and it tells you

which Gene is the problem immediately, but they take a grouping of

symptoms and check those particular cells. For instance, my daughter had

to have 1 blood test to look for Glut 1 deficincy, there was only 1 lab in

the country that could do the test. ANd HOpkins called 8 major

hospitals in PA to actually draw the blood and send it overnight they way

Atlanta Georgia required it to be drawn. AFter much searching they got

another Bio Chemical Geneticist in Hershey to order the blood test and ship

it to Georgia. To do the 2 DNA tests for it, cost 1185.00 EACH. our

insurance covered part of both, but not all, and they covered it, because

she has an extensive history and it was ordered by HOpkins. So it's

not like ordering a test for an infection or what minerals they are

deficient in....

hopkins has told us that in March, their new equipment will be able to

read over 1 million cells, so that is promising.... HOpe this helps..

Jen

Anyone with a genetic disorder?

>

>

>

>

>

> I am looking to talk to or email to anyone who knows a child or has a

> child

> with a micro deletion relating to Chromosome 13.

>

> We found out at Cincinnati Children's Hospital that my son, now 11, has a

> micro deletion. We have thought that he had autism since he was 4 so this

> is quite a turn of events.

>

> I am looking for support. He has autistic features but never quite " fit "

> into the Autism criteria the way people usually do. He was always, " well

> if

> he has it, it is very mild " but has seizures and digestive issues and all

> of

> that.

>

> Thanks.

> April Cullins

> aprilcullins@ <mailto:aprilcullins%40>

>

>

[Guest guest]

My son has 47XYY - ie he is extra male, we found out at Amniocentesis but

they tested DH family with blood (for research purposes, its not supposed to

be inherited) so it must have been able to be done that way

Mandi in UK