I speak to many people, every week, many of whom have been recently diagnosed with Lynch syndrome. The problem is that many of them have been tested without having a conversation with a genetic counselor. This is highly problematic for many reasons. Their doctors or oncologists do not have the time to go over the implications of having Lynch. Nor do they know or understand the emotional gravity of the situation and the number of other tests, which must be performed annually, in order to screen for Lynch syndrome related cancers.
Aside from blogging, I help people find genetic counselors who can assist them in their journey in hopes of keeping them as healthy as possible for as long as possible. I encourage those with good insurance and can afford to travel to visit places like Mayo Clinic where all of the necessary screening for Lynch related cancers may be done within a couple of days.
Some people say they do not want to take the time off of work to devote two or three days for testing and would rather do it over a period of time. You must do what works best for you; but in my opinion, if you can afford to get it all done at once and be given a clean bill of health, you will stress less. Besides, the “one stop shop” such as Mayo knows what they’re doing. You do not have to fret about whether or not you are properly being screened.
So how do you go about getting into places like Mayo Clinic, you ask? First of all, call them and tell them you have Lynch syndrome and that you would like to see someone who specializes in Lynch. Your doctor will determine which annual screenings are best for you following your initial consult. I see Dr. Boardman and her nurse, Sheila Buhler in Rochester, MN. I call Mayo up a couple of months prior to my due date for my annual screenings and tell them I need to come in for all of my tests. The appointment coordinator does her best to accommodate my schedule and tries to fit all of my tests within a couple of days. I do not have to tell them which tests I need, my doctor knows what needs to be done. For more information about Mayo Clinic, please go here: http://www.mayoclinic.org.
These are the tests which I have done annually:
- Blood test
- Urine test
- CA-125 (I no longer have my ovaries)
- Colonoscopy with blue dye
- Skin exam
- Pelvic ultrasound
- CT Scan of my chest due to elusive nodules in my lungs
- and last time, I had a cystoscopy due to the presence of blood in my urine.
This litany of tests may vary depending on your family history, whether or not you’ve had prophylactic surgery, if you’ve already had cancer, which mutation you hold, and your doctor. But I do know that most of these tests are imperative for annual screening. If you are not comfortable with the screening protocol your doctor would like you to have, talk to them; if they refuse to budge then perhaps it’s time to find another doctor. Things like your annual colonoscopy are non-negotiable.
If you need to find a genetic counselor, I highly recommend you go the National Society of Genetic Counselors website at: http://nsgc.org/p/cm/ld/fid=164. It will assist you in finding a counselor nearest to you and they will most likely help you find the right doctors, medical institutions, and any other support you may need.
The one thing, which truly concerns me, is that globally, we are not on the same page regarding screening measures. This is highly problematic although not surprising considering we lack cohesiveness across the board on many things. Many people in other countries tell me they’re concerned they are not receiving proper care and that their doctors are not as vigilant as some of the other doctors who are highly knowledgeable about Lynch syndrome around the world. Many factors contribute to this, particularly things like cultural beliefs, social stigmas, different medical practices within countries, having to wait to see a doctor, having doctors who are ignorant about Lynch, the inability to see specialists, and so forth. If we are to truly committed to saving the lives of those with Lynch syndrome around the world then we must work together to change this.
I am in Spain this week for the AFA Lynch syndrome conference which will take place on Saturday. I am looking forward to meeting those who will be attending and hearing their perspectives on screening and other issues, which surround Lynch syndrome.
I am honored and flattered that AFA Lynch and Myriad Genetics wanted to include me in on this very important conference.
Much gratitude to both!
AFA’s Lynch is a fantastic organization and their mission includes the following:
Help advance research into Lynch Syndrome or HNPCC.
Disseminate and exchange the results of the very latest research in the field.
- Contribute to reducing the psychological impact both at the moment of recieving the diagnosis and throughout the carrier’s life, supporting the creation and/or specialisation of competent healthcare professionals in this field.
Promote policies aimed at prevention and the regular and systematic surveillance of patients, as well as provide information about the different treatment options currently available.
Provide support and information to families including professional advicesurrounding these types of genetic illnesses.
Develop actions and activities for both lay and professional audiences to increase awareness and knowledge about the syndrome and how best to manage it.
Please go to their site for more information: http://www.afalynch.com.
I will let you know all about the conference in a few days.