Just recieved Genetic test results

[3boysmom]

On our quest to figure out what was going on with our son (when he became OCD overnight), we were sent to a neurologist / psychiatrist. He is the one that mentioned PANDAS, but then when we agreed after research...he "backed- off" and said he didn't believe in PANDAS. Well any way he did order genetic testing for our son because our ds10 has aspergers. He has such a mild and very unnoticeable degree that he isn't under the "special education umbrella". In fact, if one of my degrees was not in Special Education and I hadn't been a Special education teacher for 13 years....anyone else may not have seen it. Everyone told me that I was being paranoid that something was different about our son because I was looking too closely for things because of the students that I teach. Took him for outside testing at age 2 1/2 and he was officially diagnosed with aspergers but does not carry the lable at school. (no educational or behavioral needs ) Well, our son has the most incredible memory. Off the charts - Unbelievable memory!

 

My husband and I began early intervention with him at around 15 months old and like I said, you would never know he has aspergers. He has topics that he gets interested in, but he can keep them to himself and not control the conversation with his interests. (teaching himself to speak Japaneese and learning where every place in the world is, etc...). I feel that the neurologist/ psychiatrist (specializes in Aspergers, OCD, and Toretts) asked for genetic testing because he didn't believe that he had aspergers. Said that our son "would never be on his radar" for this.

 

Well long story short...He would not believe in PANDAS and wanted to treat as stress....we "fired" him. We have the results of a 4 page $4,500. Genetic Test that we will need to find a geneticists to read. It does state ""newly defined duplication interval at 16p13.11” and includes the words "susceptibility for autism". I also have vey detailed documentation of our son over his 10 year life.

 

Here are my questions...

 

1. If DAN doctors can "get rid of autism"...how do they change the genetic make-up?

 

2. was he only susceptible for autism and something "triggered" the on set?

 

3. Is there anyone researching the connection between autism and PANDAS that may want me to contact them? Seems like we could make some use of this expensive genetic test to help find answers. If any information that we have could be useful in any type of research...we would be willing to share. Who, if anyone, should we contact that may want this information?

[thereishope]

See, I think would say Dr K. I believe there is a connection between autism and PANDAS. I think both camps can learn a lot from each others research.

 

Dr K, Dr T, and Dr Latimer are all speaking at the Autism One Conference. They will also be in the think tank, as well as Dr B. So, maybe if you feel up to it, you could send a copy to all of them. You never know, it may reinforce something one of them already has a hunch on but hasn't made public.

Edited April 11, 2010 by Vickie

[MomWithOCDSon]

See, I think would say Dr K. I believe there is a connection between autism and PANDAS. I think both camps can learn a lot from each others research.

 

Dr K, Dr T, and Dr Latimer are all speaking at the Autism One Conference. They will also be in the think tank, as well as Dr B. So, maybe if you feel up to it, you could send a copy to all of them. You never know, it may reinforce something one of them already has a hunch on but hasn't made public.

Unfortunately, Dr. K. has dropped out of speaking at the AO Conference. I am bummed about it. Now Dr. B. is on the actual speakers list instead.

[peglem]

See, I think would say Dr K. I believe there is a connection between autism and PANDAS. I think both camps can learn a lot from each others research.

 

Dr K, Dr T, and Dr Latimer are all speaking at the Autism One Conference. They will also be in the think tank, as well as Dr B. So, maybe if you feel up to it, you could send a copy to all of them. You never know, it may reinforce something one of them already has a hunch on but hasn't made public.

Unfortunately, Dr. K. has dropped out of speaking at the AO Conference. I am bummed about it. Now Dr. B. is on the actual speakers list instead.

 

Will he still be part of the think tank?

[thereishope]

Really? Do you have any more info that you are allowed to share? Do you know if it was just a conflict in time?

 

 

See, I think would say Dr K. I believe there is a connection between autism and PANDAS. I think both camps can learn a lot from each others research.

 

Dr K, Dr T, and Dr Latimer are all speaking at the Autism One Conference. They will also be in the think tank, as well as Dr B. So, maybe if you feel up to it, you could send a copy to all of them. You never know, it may reinforce something one of them already has a hunch on but hasn't made public.

Unfortunately, Dr. K. has dropped out of speaking at the AO Conference. I am bummed about it. Now Dr. B. is on the actual speakers list instead.

[MomWithOCDSon]

What I KNOW is that if you check the AO Conference web site, he's dropped off the list of speakers. What I've HEARD is that he became concerned about an evolving media circus and didn't want to get side-tracked by that.

 

AO Conference Speakers Schedule

 

Since there's no mention of the "Think Tank," per se, I really don't know who plans to participate in that, but I've gotten the impression that Dr. K. is avoiding the entire event.

 

Fortunately, he remains on the speaker list for the International OCD Foundation conference in D.C. in July.

 

IOCD Conference Speaker List

Edited April 12, 2010 by MomWithOCDSon

[kim]

3boysmom,

 

I wonder if this would be helpful to you? What I'm taking away from this is that a DUPLICATION is not as strongly suggestive of anything certain. A deletion seems to be more significant?

 

excerpt from

 

http://www.ncbi.nlm.nih.gov/pubmed/18550696

 

In contrast to its previous association with autism, the duplication seems to be a common variant in the population (5/1682, 0.29%). CONCLUSION: These findings indicate that deletions inherited from clinically normal parents are likely to be causal for the patients' phenotype whereas the role of duplications (de novo or inherited) in the phenotype remains uncertain. This difference in knowledge regarding the clinical relevance of the deletion and the duplication causes a paradigm shift in (cyto)genetic counselling.

Not long ago I read an article where they talked about some of the disappointments regarding genetics. They thought it would be easier to nail down certain genetic profiles with specific disease, but as they identified variants of certain genes (commom to patients) they also found these same changes in healthy people. This seems to suggest that in some circumstances the genetic variables are not the whole picture which could lead us right back to environmental triggers/variables.

 

If DAN doctors can "get rid of autism"...how do they change the genetic make-up?

 

I think the main idea is to support/correct the pathways that are affected by genetic change/error.

Edited April 12, 2010 by kim

[P_Mom]

Dr.K dropped out???.........how unfortunate, and...OUCH!

[reactive]

On our quest to figure out what was going on with our son (when he became OCD overnight), we were sent to a neurologist / psychiatrist. He is the one that mentioned PANDAS, but then when we agreed after research...he "backed- off" and said he didn't believe in PANDAS. Well any way he did order genetic testing for our son because our ds10 has aspergers. He has such a mild and very unnoticeable degree that he isn't under the "special education umbrella". In fact, if one of my degrees was not in Special Education and I hadn't been a Special education teacher for 13 years....anyone else may not have seen it. Everyone told me that I was being paranoid that something was different about our son because I was looking too closely for things because of the students that I teach. Took him for outside testing at age 2 1/2 and he was officially diagnosed with aspergers but does not carry the lable at school. (no educational or behavioral needs ) Well, our son has the most incredible memory. Off the charts - Unbelievable memory!

 

My husband and I began early intervention with him at around 15 months old and like I said, you would never know he has aspergers. He has topics that he gets interested in, but he can keep them to himself and not control the conversation with his interests. (teaching himself to speak Japaneese and learning where every place in the world is, etc...). I feel that the neurologist/ psychiatrist (specializes in Aspergers, OCD, and Toretts) asked for genetic testing because he didn't believe that he had aspergers. Said that our son "would never be on his radar" for this.

 

Well long story short...He would not believe in PANDAS and wanted to treat as stress....we "fired" him. We have the results of a 4 page $4,500. Genetic Test that we will need to find a geneticists to read. It does state ""newly defined duplication interval at 16p13.11” and includes the words "susceptibility for autism". I also have vey detailed documentation of our son over his 10 year life.

 

Here are my questions...

 

1. If DAN doctors can "get rid of autism"...how do they change the genetic make-up?

 

2. was he only susceptible for autism and something "triggered" the on set?

 

3. Is there anyone researching the connection between autism and PANDAS that may want me to contact them? Seems like we could make some use of this expensive genetic test to help find answers. If any information that we have could be useful in any type of research...we would be willing to share. Who, if anyone, should we contact that may want this information?

 

 

Hi there

This does not pertain to PANDAS per se, but I have spoken with a neurologist who taught me something. Evidently, some kids with TS can exhibit some symptoms of autism due to a "crossover" in genes. And, he told me that up to 5% (that would be one in 20) kids with TS are on the autism spectrum. Makes sense to me that if TS is related to autism that PANDAS could be....maybe....?

[Fixit]

Oh brother.....i hope it's not conflict....

there are only a handful of these willing docs.....and if they are not getting along, it would not be good!!!

 

 

 

Dr.K dropped out???.........how unfortunate, and...OUCH!

[kim]

3boysmom,

 

I have to wonder if there isn't something here, regarding your genetics test. I think I might do some real research on this pathway and see if you can come up with something.

 

http://www.google.com/search?q=+acyl-coenz...amp;startPage=1

 

acyl-coenzyme A synthetases 16p13.11

 

 

http://www.latitudes.org/forums/index.php?...st=0#entry51478

 

pyruvate kinase, subject of strep antibody attack

 

Acetyl-CoA synthetase

http://en.wikipedia.org/wiki/Acetyl-CoA_synthetase

 

be sure to click on

 

Pyruvic acid

Pyruvate dehydrogenase complex

Edited April 14, 2010 by kim