Genetic Testing/Lynch Syndrome

[elissa]

Hi all,
Not sure how many people here remember me. Next week will be four years since my husband passed after an eight month battle with stage 4 colon cancer. Even though I have not posted in a very long time, I continue to check in regularly. I want to stay up on any new treatments and I like to check on how people are doing. In some ways, many of you have become my guardian angels.
So, my husband had Lynch syndrome, and it is now time to get my sons tested as they are 21 and 18. Does the testing have to be done by a geneticist or can a GP do the testing? Also, will they only be tested for the specific mutation my husband had, or will they get a complete analysis? Is a complete analysis even necessary?
Additionally, I want to get myself prepared should either or both of them test positive for Lynch. So, with regard to that, I am looking for a doctor who specializes in monitoring someone with Lynch syndrome. I am on Long Island but would travel to any of the boroughs.
Thank you in advance for your help!
Elissa

[Nik Colon]

Copied from link

Genetic testing looks for changes in your genes that indicate that you have Lynch syndrome. You may be asked to give a sample of your blood for genetic testing. Using special laboratory analysis, doctors look at the specific genes that can have mutations that cause Lynch syndrome.

http://www.mayoclinic.org/diseases-cond ... n-20025651

[elissa]

Bumping this up to try and get some input.
Thanks,
Elissa

[JAZZToo]

Elissa
Since the specific Lynch Syndrome mutation that your husband had is known, that is what the testing will look for in your sons' blood samples. I have Lynch Syndrome and received my genetic testing and counseling at MSKCC in NYC. Also, my follow-up surveillance has been at MSKCC. If your insurance is accepted there, that would be the best place to go to. They also have a an outpatient center on Long Island.
Leslie
Lynch Syndrome PMS2 mutation.
2014 Stage IV Pancreatic Cancer
2003 Stage III Colon Cancer
1995 Stage I Endometrial Cancer

[exaussie]

I was told by genetic counselor that a colonoscopy is first step even if there's a genetic link. In our case there isn't any link yet by what they know now. I know genetic testing here in US is expensive. Oregon state plan covered it for my son because we pushed. Please let us know here what you decide and how it turns out. Genetic counselor is now trying to push for testing for our girls. They have all had colonoscopies and with 2 daughtets,, polyps were found.

[KimT]

We have gone through this several times since my diagnosis of lynch with other family members. Go through a geneticist if you can because they do this all the time and are the best and navigating any insurance problem. My sister went through her gynecologist and the insurance issues were a huge pain in the butt and it took a long time to get her test and results. Because they didn't deal with the testing very much,they just didn't know to handle it. You need to have your husbands results handy because either lab that does the testing will want them. It is won't be necessary to run the full gamut of testing. With your husbands results, they will know exactly where to look as the defect will be in the same place if present in your children. If either of your kids have it, your family doctor should be able to take care of any referrals for testing ie colonoscopy, etc. I have found that in the 5 years since I was diagnosed, there is so much more knowledge about lynch with doctors. When I was first diagnosed, i dealt with doctors who never heard of it. I have moved around a few times in the last 5 years and every doctor I have encountered in the last 2-3 years knows about lynch and I have had no problem continuing my necessary testing.

[sofarsogood]

Elissa,
My oncologist set everything up for the genetic testing (even did all the paperwork for the insurance request). She sent the blood sample to Myriad to do the testing and she also said when it comes time to have our son tested that she would set everything up for him too. They told us that his test would be a lot less expensive since they aren't looking for a needle in a haystack so to speak, but just have to look for that specific mutation (MSH6 in my case). We also went to Mayo in Rochester to see a genetic counselor which was very informative, she gave us a lot of information when it comes to what the doctors should be doing to monitor the lynch. They also do the testing there. If you would like any of that information, I would sure share it with you.
Take care,
sofarsogood

[steiconi]

My oncologist handled it all; they tested part of the tumor that had been removed 8 years before (I'm negative).
My insurance is an HMO; there was no special paperwork, and no charge (though I may have already hit my max copay for the year).

[elissa]

So, after a long wait, I finally got my sons' results today. It turns out that my 22 year old has Lynch. Certainly not what I wanted to hear.
If anyone has a doctor in NY who specializes in Lynch, I'd love to hear.
Thanks,
Elissa

[Sams wife]

Wow. Sorry to hear that.

[bathroom_tile_blues]

No offense but I can't let this thread end with, "wow. Sorry to hear that." after a lynch syndrome diagnosis. I'm a young guy with lynch. Yea, you have to go through quite a bit more regular testing, but it's not the worst thing in the world! At least he knows, and can work to stay ahead of it!

I'm sorry I'm not in NY so I can't give you any references. If you ever find yourself in Chicago, I'd be happy to help. Or if your son needs a fellow young guy to talk to, I'm here for him. Best of luck!

[Bob Bones]

Couldn't agree more with bathroom_tile_blues. While nobody would choose to have Lynch Syndrome it isn't an automatic death sentence, far from it. The important things are regular screening and being symptom aware. www.lynch-syndrome-uk.org

[UnicornOnTheJayneCob]

I know this is an old thread, but did you ever find a doctor that specialized in Lynch?

I am from LI, too and am seeing Dr Stadler at MSKCC in Manhattan. She is wonderful and is a GI oncologist with a specialization in genetic cancers, especially Lynch syndrome. She does a TON of research on the topic and incorporates a lot of genetic counseling into her treatment. Though she practices out of the NYC office, Sloan also has extensions in Commack and Rockville Centre, where your son can get his CT scans, etc. done.

We have also seen doctors at the Monter Center at LIJ and at South Nassau, but Dr Stadler is the only area physician I have found with this specific interest.

I hope that this message is ultimately completely superfluous and that your son is already in good hands. Best of luck!