To explain what constitutional mismatch repair deficiency (CMMRD) is, we first need to talk about Lynch Syndrome. Lynch Syndrome increases a person’s risk of getting certain types of cancer in their lifetime, including bowel cancer, which is the most common cancer associated with this genetic condition.
What is Lynch Syndrome?
Lynch Syndrome affects genes called mismatch repair genes. They are genes responsible for correcting changes in genetic code when cells grow and divide. As the cells grow and make copies of their DNA, they can make mistakes, which mismatch repair genes rectify so that those errors don’t lead to cancer. So if these mismatch repair genes are abnormal or have a “mutation”, they may not repair those mistakes and cancer can occur.
What is CMMRD?
CMMRD, like Lynch Syndrome, is a genetic condition that makes it more likely for a person to get certain types of cancer, except this time it occurs when a child has inherited mutated genes from both parents, and the cancer risk is even higher. PMS2 is the most commonly affected gene in CMMRD.
To illustrate this: If mum has one “good” copy of the gene and one bad copy, I could inherit her good gene or her bad gene. And the same goes for my dad. My sister could inherit both of their good copies, and therefore doesn’t have Lynch Syndrome or CMMRD, and neither do her children. Whereas if I inherited both of their bad genes I therefore have CMMRD.
It is thought that… As many as 1 in 300 may have Lynch Syndrome, while the odds of having CMMRD are one in a million – or 0.0001%.
I hope will put a Lynch Syndrome diagnosis in the proper perspective and keep you and your loved ones alive.
First, do not bury your head in the sand…
If you have a family history of cancer–of the uterus, ovaries, bladder, ureter, kidney, stomach, small intestine, liver, pancreas, prostate, and oil glands (there may be others), take seriously the possibility that there is a hereditary component to such histories.
Especially–I repeat ESPECIALLY–if there’s a family history of colon or uterine cancer at a young age, talk to your doctors and get tested for Lynch.
And if you happen to test positive for the Lynch mutation, don’t hide it from your family. Because sharing that information may save others in your family as well.
Second, if you discover that you or a loved one has Lynch Syndrome, DON’T FREAK OUT!
Realise that such knowledge—as upsetting as it—invites you to design a surveillance program with your doctors that will enable you to “stay ahead” of the most common types of Lynch cancers, and thus to swing your odds of living a relatively healthy life hugely in your favor.
Gynaecological cancersrefer to any cancer of the female reproductive system which includes the uterus (womb), the ovaries, the cervix (the neck of the womb), the vulva (the outer part of the female genitals) or the vagina.
Ovarian cancer and was launched in February 2022 and the genetic conditions, BRCA and Lynch Syndrome, were added in May 2022. Uterine cancer went live in September 2022. Vulva cancer and vaginal cancer will be live before the end of 2022.
The strange juxtaposition of utter pain, destruction and sadness in my private life and the brave, strong and positive patient in public was stifling. I didn’t want to hear how I was an inspiration simply for trying not to die. I didn’t want to hear how brave I was. I didn’t want to hear how upset my own cancer made Sally from fifth grade (who hadn’t spoken to me since).
Despite a devastating family history of cancer, no doctor took note of the history and took action to determine if there was a hereditary cause.
Having just one physician dedicated to the practice of hereditary cancer awareness and prevention would also not only potentially save lives, it also would save on the enormous expenses incurred because ofa cancer that wasn’t prevented or caught early.
No one is going to be a bigger or better advocate for your health than YOU. The days of doing a trust fall into a white coat might be over. You know you. No one will fight harder for your life than you.
“Your diet is not only what you eat. It’s what you watch, what you listen to, what you read and the people you hang around, be mindful of the things you put into your body emotionally, spiritually and physically.”