A cancer diagnosis revealed Ari’s rare syndrome: “Knowledge helps”

It started with a burning sensation.

Every time Ari ate, he felt irritation in his stomach. He thought it was probably acid reflux or an ulcer, and his GP also believed that medication would most likely make it go away.

But it didn’t.

Eventually, Ari and his wife insisted that he undergo a colonoscopy. He was only 38, and both his doctor and the hospital initially considered the risk of serious illness to be very low.

The examination revealed something else.

The doctors found a small tumour. It was colorectal cancer at a very early stage.

“The burning sensation turned out to be colorectal cancer. I never imagined that,” he says.

“The burning sensation turned out to be colorectal cancer. I never imagined that.”

In this article, we call the main subject Ari. His real name is different, but he does not wish to be identified by name or photograph. Pharmadanmark knows his real identity, and we respect his wish to remain anonymous.

A rare diagnosis

Shortly after the doctors discovered the tumour, Ari began treatment with immunotherapy, followed by surgery.

The doctors quickly suspected that there might be an underlying cause.  Ari’s young age was unusual for colorectal cancer and raised the possibility of an underlying genetic condition.

And indeed, genetic testing confirmed that Ari has Lynch syndrome.

Lynch syndrome is a rare hereditary condition that, among other things, increases the risk of colorectal cancer.

Ari had no idea that something was hidden in his genes. His father had previously had colorectal cancer, but the family was unaware of the genetic link. It was only after Ari became ill that the pieces fell into place.

Today, he knows that the diagnosis may also have implications for the rest of his family. His children can undergo genetic testing when they turn 18, Ari explains.

On the one hand, it is reassuring to know that his children will enter the healthcare system and be monitored once they are old enough. On the other hand, it is naturally difficult to know that they may also carry the syndrome.

“It’s a bit of an emotional rollercoaster,” Ari says.

“The children are too young to understand it right now, but when they get older, we will of course have to talk it all through with them.”

Knowledge makes a difference

In many ways, going through cancer treatment has been a unique experience for Ari, not least because he previously worked in cancer research himself.

Ari emphasises that his scientific background has been a great help throughout the process.

He understood the treatment options and knew that the diagnosis was not necessarily a death sentence.

But not all patients have that knowledge.

“I believe knowledge helps. When you understand the disease and know what options are available, the fear becomes less overwhelming.”

“I believe knowledge helps. When you understand the disease and know what options are available, the fear becomes less overwhelming.”

According to Ari, it is crucial that patients have the opportunity to meet others with the same diagnosis, share experiences and gain access to the latest knowledge.

He is involved in a network for patients with Lynch syndrome and has helped organise events where patients can meet and exchange experiences.

Today, there are many small patient associations and private groups for people with rare diseases, but Ari would like to see the public healthcare system take greater responsibility.

“Patients shouldn’t have to be the ones searching for answers themselves. They should encounter a healthcare system that provides information and hope and connects them with others who are in the same situation.”

What about quality of life?

When Ari looks back on his experience with cancer today, he does so with mixed emotions.

It was a long and difficult process lasting eight to ten months. Immunotherapy, surgery and subsequent complications resulted in several hospital admissions and placed a heavy strain on him, both physically and mentally.

“We talk a lot about survival. But the big question is also: what will life be like afterwards?”

Despite the difficult course of treatment, Ari also considers himself fortunate. The cancer was detected early, and the treatment worked.

Today, the disease is under control, but Ari continues to live with a number of long-term effects.

Through his patient network, he knows that many other people with Lynch syndrome struggle with the same challenges.

Fatigue, changes to working life and uncertainty about the future affect many patients, even long after treatment has ended.

“We talk a lot about survival. But the big question is also: what will life be like afterwards?” Ari says.

“Of course, it is important that the healthcare system focuses on treatment, but I hope that in the future there will also be a greater focus on how we ensure a good quality of life on the other side of treatment.”