At 28, Lydia* has had more than her share of Lynch syndrome worry and loss. And she is worrying today.
The South Australian healthcare worker is currently considering a move back to her hometown, 600 km away, “So that I can be closer to my sister and my dad.”
For the past four years, Lydia has been an intrinsic part of both her younger sister’s and her mother’s repeated battles with bowel cancer, pancreatic, and ureteric cancer, after they were simultaneously diagnosed with Lynch syndrome in 2012. Lydia later decided to be tested for the gene fault in 2014.
“My little sister was tested for Lynch syndrome after being diagnosed with bowel cancer at 21 years of age. By the time her gene test results came through six months later, she had been diagnosed with yet another primary cancer, this time pancreatic cancer. Only then did we join the dots to other family members,” explains Lydia.
“If our GP had only taken a cancer family history, then we could have been on the look-out. Mum’s father died at 55 after having bowel cancer at 43 then a possibly primary biliary cancer (it is unclear if this was an unusual presentation of secondary cancers from his bowel cancer or a primary biliary cancer) at 52. His sister also died young of an unspecified cancer. “
A bowel cancer under 50 is a clear red flag for hereditary cancer and a subsequent hepato-biliary cancer another key signal of risk. If there is even one direct relative affected with bowel cancer or a Lynch syndrome associated tumour before age 50, a patient should be referred directly for genetic counselling with a view to possible genetic testing. In fact, it is best practice for all GPs to take a family history for each of their patients, with particular emphasis on heart disease, diabetes and cancer.
For Lydia’s family, as with thousands of other Australian families, this was not the case. For more than half of those with Lynch syndrome, like her sister, diagnosis comes just after they find out they have cancer and at the same time as they are dealing with complex and arduous cancer treatment. It usually takes some time to understand fully the implications of carrying one of the five known Lynch syndrome mutations.
“Mum’s focus was naturally on us, her daughters, but when my sister was being investigated for her new pancreatic cancer, Mum turned 50 and did the right thing – she took her poop test (FOBT) which everyone gets sent through the post from the government when they reach 50.” The test came back positive and a partial colectomy (where a section of the bowel is removed) shortly after took care of a 3cm precancerous polyp. “I looked at the pattern of my grandfather’s and my sister’s two cancers and wondered then, what kind of cancer would my Mum get next, and would we catch it in time?”
It was just over eighteen months later in September 2013 that Lydia’s mum complained of backache when helping her youngest daughter move house. Despite a recent diagnosis of Lynch syndrome, a pre-cancerous polyp in the bowel and a daughter with two metachronous cancers in the space of a year, her mother’s complaints were dismissed as a urinary tract infection. She was given antibiotics and her symptoms eased, but they frequently recurred, Lydia later found out, but still no consideration was given to the possibility of a urothelial cancer.
Lydia’s mum’s ureteric cancer was found by accident during an annual pelvic ultrasound in November 2013, recommended by her GP as a screening tool for ovarian cancer. (Lydia’s mum had previously had a hysterectomy for unclear reasons in her 40’s but had one remaining ovary) She went on to have a CT scan after the scan showed her ureter and kidney to be obstructed and was subsequently diagnosed with cancer of her ureter. Following surgery to remove her kidney and ureter, a biopsy was taken of enlarged lymph nodes deep in her abdomen and just before Christmas it was confirmed that the cancer had already spread, and the lymph nodes were unable to be removed.
“The biopsy was a terrible ordeal for her”, explains Lydia, “I remember that night vividly because although Mum was in a lot of pain she was determined to get back home from the hospital in Adelaide because she’d promised Dad they’d go squidding that night!”
Due to the late diagnosis and the advanced stage of the urothelial cancer eventually found by the doctors, Lydia’s mother died fifteen months later in April 2015.
A common burden for those living with Lynch syndrome is guilt. Firstly, survivor guilt, especially when other family members are not so lucky. Then there’s the guilt of finding out that you do not carry the Lynch syndrome gene, when siblings and other relatives are found to be positive. For parents, there’s the burden about the mutation they might have passed on to their children. And of course there’s the constant questioning of whether they have done enough to spread the word and encourage family members to get tested and to be screened.
And this is certainly how Lydia feels. “ I keep thinking, I work in the medical profession, and it was my responsibility to look out for Mum. Why didn’t I insist she get screened when she first complained about backache? I should have known that this was a possible sign. Mum often apologised for passing on to us this faulty gene and all that came with it, and I would tell her, ‘It’s not your fault, Mum!’ ”
For Lydia, the past five years have been a rude awakening to the realities of living with Lynch syndrome but, despite her misgivings, she has a refreshingly hopeful attitude towards surveillance and survivorship. At 26, her little sister has been an inspiring example of not letting Lynch syndrome rule her life, having undertaken treatment for two separate primary cancers and two recurrences of these, and in between treatments getting married and having a healthy baby boy. She recently had another clear CT scan and the future is looking hopeful.
“It’s been a traumatic few years, even by Lynch syndrome standards, I think, but I’m coping. Life keeps going, just a little differently, but we have to continue to make plans, build a life, have a family, and look forward with hope.”
Indeed, after her family’s recent experience, when it comes time to have start a family, our interviewee is considering using pre-implantation genetic diagnosis testing (PGD) – a complicated and often expensive procedure whereby embryos are selected if they do not carry the Lynch syndrome genetic mutation and then implanted in the womb.
“While it is a bit of an ethical dilemma, after what I’ve witnessed my family go through, I feel as though I have a responsibility to prevent this gene from being passed to my children. Having said that, at least those of us with a Lynch syndrome diagnosis are better off than all those poor people who still don’t find out that they are at risk until after someone gets cancer. And sometimes, not even then. We just have to be vigilant.“
Worldwide, tens of millions of people with Lynch syndrome do not know that they are carrying this gene mutation. Best estimates in Australia suggested that only five percent have been diagnosed so far and that leaves tens of thousands of people still in the dark.
“I just want to share our story. If there is a chance that even one family will ask the right questions about their family’s history then Mum’s death, and my sister’s ordeal might mean that a life is saved.” Lydia pauses as the loss and grief well up once more.
In fact, by being proactive and contacting family members overseas, Lydia’s mum’s actions have had a profound impact on the life of one of her cousins. He went for a colonoscopy after hearing about the possible risk and was found to have multiple asymptomatic bowel cancers. He has thanked Lydia’s mum for saving his life.
“I know that some people like to keep quiet and be private when something like a Lynch syndrome diagnosis hits them,” admits Lydia, “It’s because it changes how we see ourselves and we don’t want others to see us differently. But I believe that we don’t own our Lynch syndrome diagnosis – it really is a family matter!
“I know that getting a Lynch syndrome diagnosis is frightening, it took me 2 years to summon the courage to get tested. I thought that I didn’t want to know. But now I’m armed with my known risk, and I’m not going let it get me, or anyone else I love.”
Lydia has one final piece of advice for anyone who lives each day with Lynch syndrome.
“If Lynch syndrome were better understood by medical professionals and family histories taken when and how they should be, perhaps we might all have been forearmed. If nothing else, I am determined things should be different for my children. If we all do our bit to spread the word about Lynch syndrome, we really can make a difference.”
*The family has asked for their names to be withheld to protect their privacy.