As a child she lost her mother to gastric cancer, then her aunt also fell ill. She cos at 35 does her genetic test and she discovers she is in great danger
Maria is an unfortunate girl who remains without her mother just before she turns 10, so her childhood and that of her two younger brothers is marked by great pain and many difficulties. When he turns 14, however, a nice stroke of luck arrives: he meets the love of his life, what as soon as you see him your stomach closes, your hunger goes away and you feel butterflies in your stomach, that love for which your heart is pounding. Not the blunder of a teenage girl. At the age of twenty she marries him and they are still together today, after 25 years of marriage. A house built in a small village halfway between Rimini and Cesena, two children (Marco, born in 2009, and Martina, born in 2012) and the preventive removal of the whole stomach after discovering she was the bearer of a genetic mutation that exposes her to a great danger: developing a tumor which, in many cases, is lethal.
Inherit cancer risk
In Italy I was the first, that I know of, to have my stomach removed preventively – she says -. It happened eight years ago and in this period medicine has made important progress on hereditary-familial DNA mutations that predispose to cancer. When I discovered, in 2013, that I was a carrier of the CDH1 genetic mutation, I was 35 years old and the geneticist suggested that I have a mammogram every year and a gastroscopy every 10/12 months because this mutation involves 80-90% chance to develop stomach cancer and 50-70% breast cancer, but preventive gastrectomy was already being practiced in Germany.
Mom and aunt
Maria’s mother had died in 1987 at 32 years old of stomach cancer and in 2013 her 43-year-old aunt (the mother’s younger sister) was diagnosed with the same disease. My aunt lived in Germany, she was treated and the doctor who followed her had the idea of having the genetic test performed, given her family history. My siblings tested negative, unfortunately I didn’t. I have the CDH1 gene mutation, which is rare and the German geneticist explained to me that the type of tumor that my risk of invasive and aggressive gastric cancer was high. The danger, doing only checks with gastroscopy, would have been to discover a neoplasm already in an advanced stage, when it was too late. On the other hand, of course, the prospect of having his whole stomach removed “only” as a preventive measure was not a trivial matter….
A difficult decision
Thus two years of normal life pass for Maria between a job that she likes very much (as sales representative of various areas of Europe and northern Italy for a well-known Italian fashion company) and which gives her great satisfaction, family, friends on one side and on the other, the great anxiety of falling ill and leaving her children orphans, just as had happened to her. Mattia, her husband, stands by her among reflections, anxieties and discussions. A rock to which she clings firmly in the storm. After evaluating the pros and cons countless times, the decision was made: Maria will go to the operating room, entrusted to the able hands of Professor Franco Roviello, my savior, the one who reassured, protected and operated on me. Total gastrectomy surgery (i.e the removal of the entire stomach) is scheduled for April 16, 2015.
Eight years have passed since then: despite numerous difficulties, Maria is convinced of her choice.
What happens to those who live without a stomach
I have never regretted it, I have not had second thoughts. Certainly my life has been complicated: living without a stomach is possible, but it is a very important organ and doing without it has many consequences. First of all, completely change your relationship with food: the first thing to learn is not to eat and drink at the same time, it is essential to rely on a nutritionist expert in gastrectomized patients. Great care must be taken in choosing what to eat: unfortunately, over the years they become more and more frequent blood sugar swings (which can cause significant damage) and to theexcessive weight loss: as a gastrectomized patient one generally suffers from malnutrition and for life the vitamin B12 will be deficient, as well as often iron, folin and vitamin D (for which specific supplements are specified), useful against osteoporosis. Over the years, all of this implies other problems: the skin suffers, hair and teeth weaken, the bones become more fragile, one suffers from constant fatigue, often from tachycardia. After eating, then, you may have palpitations, fainting, breathlessness and it is essential to take moments of rest throughout the day (especially after lunch to manage and overcome glycemic swings).
Inherited genetic mutations
The latest estimates indicate that in Italy there are about 60,000 annual cases of neoplasms linked to hereditary syndromes out of a total of 377,000 new diagnoses. Obviously, in large part, these are rare mutations. Today preventive gastrectomy is also suggested in our country for those with the hereditary syndrome of diffuse gastric adenocarcinoma, a very rare condition. Being able to identify healthy carriers is decisive – underlines Carmine Pinto, president of the Federation of Italian Oncological Cooperative Groups (FICOG) -: a careful assessment of familiarity is needed to establish who must have access to genetic counseling and any test that can identify DNA mutations which, as in my case, expose you to a high risk of getting sick.
Alarm bells
Despite the progress made in recent years, gastric cancer remains a difficult disease to treat even today: aggressive, it can be cured if it is discovered in time and surgically removed, but if it is recognized in an advanced stage, the treatment process becomes more complicated and it stretches. Every year in Italy there are about 14 thousand new cases, but only a third of patients alive after five years from the diagnosis – explains Carmine Pinto, director of medical Oncology of the Comprehensive Cancer Center of the AUSL-IRCCS of Reggio Emilia -. He mainly blames the fact that the disease is discovered late, when it is already in an advanced stage, because only then does it begin to show the first symptoms. Not to be overlooked, if they continue for several weeks, are persistent digestive disturbances, loss of appetite, difficulty swallowing, loss of weight, feeling of fullness after meals, feeling of nausea and vomiting, heartburn (burning behind the breastbone), presence of blood in the black stools or stools, chronic fatigue.
Work and life today
Maria is 46 years old today and continues to work at Pollini, but she had to reduce her professional ambitions, due to the consequences of the surgery she however had to adapt to another role: travel and stressful rhythms were too heavy for her to bear, while medical appointments take their time. But I’m happy with her – she concludes -. I have a wonderful family, my great love, and I’m alive. I am in constant argument with the scale and I weighed 42 kilos (too few for a 1.70 tall, before the operation I was 16 more) and it was very hard, I had to learn how to give myself intramuscular injections, I that I’m afraid of needles… I’ve learned to appreciate the little things, I’ve learned to “listen” to myself, I’ve reassigned my priorities based on who I am, I’ve stopped seeing people who didn’t make me feel good. I learned not to make judgments without knowing the facts, if I don’t agree I try to understand a different vision from mine. I’m trying to love myself, enjoying life, with all the limits that my body imposes on me, without experiencing it as a deprivation… You can live without a stomach (as the name of the association says which I belong to and which has helped me so much over the years).
April 13, 2023 (change April 13, 2023 | 06:53 am)
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