Genetic Tests?

[airial95]

Okay, as you all know, we ADORE our pediatrician. I try to brag about him too much, but he's a believer, willing to learn and open to new ideas.

 

His office called me today, his secretary told me that he found out about a new "genetic test" and he asked her to call 3 of his patieints (us included) to see if we'd come in to get tested. It's simply blood work (which my guy handles quite well) They'd waive any costs insurance wouldn't cover. I was curious, she said that if we could come in tomorrow at 10 he'd be there with another dr who was using these tests there as well. She couldn't tell me much more other than the obvious - our Dr. does not normally call in patiiets for random tests. She's also very flighty - so she was just using the dr's notes to make the call.

 

Unfortunately, that time doesn't work for me. We're taking our non-PANDAS daughter for tubes/adnoid (and hopefully tonsil)removal at 11:15 tomorrow.

 

However, my thought was - whatever might help either our son or any other kid with this condition - let's go!! My husband wanted more info.

 

I emailed the dr, with some further questions. This is what he responded with:

 

"The new test looks for genetic markers for approx 56 dominant and 30 recessive genetic syndromes including 24 markers for autism and 14 single gene conditions. I can show you a brochure listing them, etc. I am not suggesting Broderick has autism, just pointing out all the different markers.

Bob Friedmeyer MD"

 

Right now, I'm taking him in tomorrow early to talk about it possibly to do a blood draw. My initial thought is this: How many kids are dx with autism that might actually be PANDAS? My son was suspected autistic (sp. Aspbergers) until he responded to PANDAS treatment. If tracking his markers helps distinguish between Autism and not (or even find something else?) how could that be bad??? How can more detailed information on his genetic makeup hurt??

 

Let me note very strongly. Our pediatrician has been DEAD ON with anything we have brought our children in with - including PANDAS immediately. So we trust him implicitly. He called us with this test - is waiving all of his costs, and has only asked 2 other patients - so he must think it's helpful.

 

What are the risks benefits of doing this test? Wondering what others thoughts are.

[MomWithOCDSon]

"The new test looks for genetic markers for approx 56 dominant and 30 recessive genetic syndromes including 24 markers for autism and 14 single gene conditions. I can show you a brochure listing them, etc. I am not suggesting Broderick has autism, just pointing out all the different markers.

Bob Friedmeyer MD"

 

 

Generally speaking, I'm with you. I always want more information. The only hitch here is, let's say there's a genetic marker in common between autism and what will ultimately be determined to be PANDAS, once all the studies have been done and genetic markers for PANDAS have been identified. Between now and then, if your child displays one or more of those markers, is that just going to feed the PANDAS cynics more ammunition . . . look, I told you your kid had Aspberger's/autism! Is it possible that these tests could lead to MORE, rather than fewer, misdiagnoses?

 

Of course, you're a lucky one with a very "present" pediatrician, so it doesn't seem he would be led down that path based on the marker evidence alone, but maybe it would be worth a frank conversation with him about the "end-game" of this testing. Is he participating in a larger research project? Is he following some hunch of his own?

 

As a side note, I had a discussion with Dr. Rosenberg's office at Wayne State University last week. Dr. Rosenberg is the guy who's research on pediatric OCD helped identify glutamate as a "major player" in the development of OCD behaviors. Anyway, he's got a new line of research going now involving glutamate and genetics. I didn't inquire into any depth about that particular research, but I find it interesting that these folks are moving down the genetics vein of the research. Maybe there's some connection there, as well? Anybody else know anything further about this?

[thereishope]

If you consider doing the blood test, ask what he plans on doing with the results. Also, will they be "on the side" or oficially be put in your son's med file.

[kimballot]

Arial - I wish I lived near you - I would go to your pediatrician!!

 

I in agreement, though, that you should proceed with caution - especially if you don't know what will be done with the results.

 

Is this being done as part of a research study? If it is, then you should have a consent form that says what they will do with the results and it should NOT include putting them in your medical chart without your permission.

 

I am wondering, too, if they will be looking for the D8/17 marker. I've read some promising studies on this marker for ARF, rheumatic fever, and PANDAS (here is one example http://ajp.psychiatryonline.org/cgi/content/full/159/8/1430), but I have not seen any studies recently.

Edited February 23, 2011 by kimballot

[airial95]

We have an appointment for Friday afternoon to discuss in more detail. Our Dr. is very progresssive and always on top of the latest things. I don't have too much worry about him chasing down some sort of rabbit hole - but I haven't thought about other, future doctors looking at his records.

 

I'm curious about it because I carry the HLA-B27 gene marker, which is linked to several autoimmune inflamatory conditions, including my ankylosing spondylitis. So I'm very interested in the genetic aspect of any of this!

 

I'll keep you posted on what else the dr tells us on Friday...

[airial95]

I wanted to post sooner - but with 2 cases of active strep in the house, my daughter's tube/adnoid surgery late last week, and prepping the house for ALL of the in-laws (parents, sisters, brothers!) to decend on us this week (starting tomorrow) - time got away from me. (Honestly, if it wasn't for the fact that my PE liscence expires tomorrow and I HAD to get on line to do my final continuing ed tonight, I may not even be here now!)

 

I had a good appointment with the pediatrician on Friday to get more detail on what he was testing for. It's not a "specific" test he's doing. He wasnts to do a complete genetic profile on my son - the whole she-bang. He has been keeping detailed records/notes on the PANDAS kids that he has treated and he has a few "theories" of his own. Including (but not limited to):

 

1.) that as they "re-define" the autism spectrum, PANDAS should be included (since autism is really just a collection of symptoms, not a dx itself.) So he's curious as to what the autsim sensitive markers may or may not tell us.

 

2.) He is totally convinced that there is a genetic component to this condition - and that may be why there's a high incidence in siblings (he doesn't think I'm nuts to suspect my daughter may have a very mild case too.) He suspects links to the mother, since many of his patients have a parent with a history of streop or autoimmune/inflamatory condition.

 

He recommended 3 patients get the tests, and he wants to compare the results. He's curious to see if anything shows up. He suggested my son because he knows we're up to date on all the latest research, we're open to anything we can do to not only help him, but help other kids not suffer like him, and he knows my past history with chronic strep and AS.

 

He's aware that there are some studies/speculation on some of his "theroies", but he's looking at this simply from a treatment standpoint. If any of this information can give him a clue as to how to help his patients - that's his goal. He's not making any decisions on what else to do with the info (if he'll share with researchers for example) until he gets the results back, see what they say, and regroup with the parents involved.

 

We ultimately decided to get it done - for a couple of reasons. First, I think having that kind of analysis done is fantastic. It's also going to be screening for all sorts of other non-PANDAS related things. Second - knowing I carry a gene marker that causes arthritic disorders, I'd like to know if he has that same thing, so we can be watchful for symptoms and start treatment early for him. (I started having symptoms over 10 years ago, but always thought it was my old cheerleading days that did me in - would've been nice to start treatment before there was damage!) My family (on both sides) also has a long history of neural tube defects, which is also suspected to have genetic links, so if we can identify that, it will help him in the long run too.

 

I know that we risk the markers identifying some random thing that may cause insurability issues later, but I think it's a risk we're willing to take, considering my family's other history of genetic issues.

 

It will take about 3 weeks to get the results...I'll pass along anything interesting we may learn!