Genetic cancer: the story of Giuseppina

A family story

"Just call me Pina," she says, because that's how I'm known and that's how I introduce myself when I meet people I'd like to connect with. For generations, my family has had a history of breast cancer. My mother also died from it and it was at that time that we were all informed that this was a genetic, hereditary type BRCA2 cancer. There were five of us girls at home and two of my sisters were also diagnosed with this BRCA2 gene.

An extraordinary story

The diagnosis of my breast cancer happened 19 years ago. Immediately the doctors made a genetic connection. They could not confirm that I had the BRCA2 gene, but they could confirm that I had a hereditary factor: I carried a genetic mutation that was not yet known or described. I live in Liège, but because of this diagnosis, I am participating in a research program at the Jules Bordet Institute in Brussels. This research is still ongoing.... Every 10 years, my genetic mutation is analyzed to better understand it and anticipate the care of people who are carriers of the same mutation.

Choosing life

Unfortunately, a multifocal cancer was found in one breast, so I began chemotherapy. Later, not only the affected breast had to be removed, but also my other, healthy breast. This was very exceptional at that time and not many hospitals were doing this. The emphasis then was less on prevention and more on sparing the healthy parts. It was Professor Nogaret who treated me, and he wanted to give me more security: all the preventive and curative decisions we made together turned out, in retrospect, to be the right choice for me.

We are now almost 20 years later and I am fully enjoying my family life. Three children have not yet left the parental nest; they are all studying at the University of Liege. I remain present and available as a mother, but have also developed my own activities. I was lucky enough to have started a family before the disease. At the time of the diagnosis, I was married and the mother of four young children. This allowed me to put my career on hold to devote myself fully to my health and my family.

At the time of contralateral removal of my breasts, that is, also with preventive removal of the healthy breast, I underwent an ovarianectomy as a precautionary measure and also an ovariectomy, another decision I certainly do not regret.

Then came radiation treatments, I took the drug Herceptin for a year, and finally hormone therapy followed. First I took Arimidex for 5 years and then Femara for 5 years. This last part, the extension of hormone therapy to 10 years, happened again as part of an innovative study at the Institut Jules Bordet. At that time, this type of treatment was recommended for 5 years, now it is extended to 10 years in certain cases as a result of the conclusions of the study in which I participated.

I repeat, some good decisions and scientific advances got me where I am today.

Sharing stories of hope

Still, after chemotherapy, I was very depressed and saw a bleak future. It was a very difficult time. The fact that I had lost both my breasts certainly played a part, but I was especially worried about the health of my two sisters with the BRCA2 gene.

Still, in the hospital, the day after my double mastectomy, I found a glimmer of comfort. I was visited by a lady from the non-profit organization Vivre comme Avant and she gave me hope and courage for the future. I can still see her standing at my bedside, telling me that she had been in remission for 7 years and was doing well. And then she gave me my first post-operative prostheses. What a gift to me and my womanhood! I still remember the image of this woman: smiling, beautiful and brightly dressed. Believe it or not, I often see these colors vividly before me and still consider this moment an essential turning point. Then came the realization that in addition to medical care, I had to seek human contact with other patients to crawl out of the valley.

So from the start, I was convinced that listening and exchanging thoughts would help my recovery. Still, I felt very dejected. At the same time, one of my sisters, who was a carrier of the familial gene, died of breast cancer. That was a terrible shock to me and the beginning of a severe depression.

Nevertheless, I then joined two groups, which now no longer exist. One in Liege with a group that had formed on the initiative of the Foundation against Cancer. And also with Les Essentielles, an international group (mainly in France but also in Brussels), where I had incredible contacts and conversations! Meetings with families and genuine friendships that helped us understand our own illness or that of a spouse or close relative.

The story of an innovative reconstruction

There I also learned more about the various breast reconstruction techniques available internationally. In Belgium, there was no or little talk of DIEP yet. Yet I was convinced that this was the treatment I needed. I was finally able to go for reconstruction in Ghent, at the only Belgian hospital that could perform my bilateral DIEP reconstruction at that time. It was a very long surgery and an exhausting process, but again it turned out to be a very good decision. Many years later, I am still satisfied and happy with this choice. Unfortunately, this innovative technique was not yet recognized by the RIZIV at that time, so I had to pay the many high costs myself. I saved for a year to pay for my reconstruction.

Fortunately, much has changed in the meantime for patients. Surgeries are now reimbursed by the health insurance fund, whereas in the past the cost was a real barrier for most of us.

Volunteering, a 'win-win' for patients and ex-patients

So I went through everything in terms of healthcare delivery, medical advances, sharing experiences....

And soon I hoped that with my experiences, and the positive dynamics of the group meetings, I could also help other patients move forward. Word of mouth played a big role here. Women advised family members who had also been diagnosed with breast cancer: "Go see Pina, give her a call, she can help and advise you."

So I then joined the non-profit organization Vivre comme Avant, whose headquarters are in Brussels. All of our volunteers have gone through and overcome breast cancer themselves. These women visit patients who have had surgery. Our association in Wallonia and Brussels is best compared to Breast Cancer Flanders. The two asbls are also partners and are recognized by the Foundation against Cancer (cancer.be).

I am glad that the restrictions of the pandemic are dying out, so that more contact is possible again, that we can go back to visit the operated patients in my region and offer them hope and our experience. Meanwhile, I did stay in touch by phone to listen to them and support them whenever possible.

So my testimony has a happy ending: I am in remission, I feel good in my body and in my life. I can even say that I enjoy life more than before.

Heredity, prevention and confidence in the future

And finally, I take care of my daughter.

My two nieces, my sisters' daughters with the BRCA2 gene, were screened at age 20. Depending on their personal results, they are following a customized prevention program.

Since I am not a BRCA2 carrier myself, neither is my daughter. But she is being preventively screened for my specific gene, around which scientific research is ongoing.

Mammograms in high-risk young girls are best avoided, but my daughter has been given specific codes for "high-risk patients" to have annual reimbursed MRI scans starting at age 30.

It is not easy for these young people, but as a mother and aunt, I try to convey to them the message that there is no other choice: prevention is the most important and right choice.

I also know that people who are carriers of a rare gene often stand alone against the majority of other breast cancer patients. Therefore, in my case, I find it even more necessary to testify and remain available for exchange. I informed myself through my doctors and at the group meetings I already spoke about, but in addition, I also received many answers to my questions through closed Facebook groups specifically for people with genetic mutations, such as BRCA1, BRCA2, PALB2 and Preventive Mastectomy.

After this long journey, I came to this conclusion: no patient is alone. Open yourself to human contact, life is worth living and you will appreciate it even better afterwards.

With hope and in thought I am with you all.

Pina.

Interview by Marie Paule Lecart