Two words that encompass a very broad universe of pathologies. Because inside the container of rare diseases there are many names that are often difficult to memorize that refer to syndromes that are even more difficult to understand. But when fate puts one of these diseases on your path, it is inevitable that you have to familiarize yourself with names, acronyms, graphics and therapies that seem like secret codes. It also happened to Matteo that one day he had to know four new words: amyloidosis from light chains. Matteo is one of the protagonists of the second edition of the awareness campaign ‘Let’s give voice to the future’ promoted by Janssen Oncology and sponsored by AIL – the Italian association against leukemia-lymphomas and myeloma.
A strange tingling and headache
Matteo spent his days in peace doing the job he always loved: the gardener. His ‘journey’ began years ago. “At a certain point – he tells Oncoline – the symptoms presented themselves and in the strangest ways. First appeared a strange tingling in the hands, to which I did not give particular weight, attributing it to my work. In addition, the migraines that I have always suffered, but which in that period have become more frequent, to the point of making it impossible to plan any activity “.
An inexplicable fatigue
The disease that Matteo suffers from is progressive, but extremely slow: it can take years before it manifests itself openly. Therefore, it is difficult to arrive at the diagnosis early. But in addition to the symptoms described, Matthew is suspicious of his tiredness: “I felt a state of exhaustion that could not have been due only to work. In short, it was evident that I was not feeling well ”, he continues to tell.
Just anxiety?
To understand what the problem was, Matteo performs blood tests which show that – apart from the usual things like a bit high cholesterol – everything is fine. So the doctors conclude that perhaps his symptoms are due to anxiety. “In fact, the new business on my own caused me some more worries”, admits the man who, however, adds: “Yet something does not convince me and a thought at night makes me turn over in bed. I feel inside me that something is not right, that there must be something that the doctors have missed “.
Protein in the urine
Three years pass during which Matteo is ill, every other day. “I especially remember the exhaustion and, believe me, for those who do my job, feeling constantly tired is a really big problem. I had to move, prune, plow, sow…. And I was constantly tired ”. Matteo insists with the doctor and finally repeats the tests, but once again everything seems fine. In fact, the presence of protein is found in the urine. “The doctor explains to me that they shouldn’t be there, that their presence indicates that the kidneys are not working properly but there is nothing alarming, I just have to repeat the test after a couple of months”, recalls Matteo.
Swollen feet and liquids all over
To alarm Matteo is then the appearance of a strange swelling in his legs and feet so much that he is unable to wear work shoes. After insisting again with the doctor, he is hospitalized because in the meantime he is completely filled with fluids. “My whole body is as if it is unable to eliminate the liquids I take in”, says the man. “At this point I attract the attention of several specialists who start discussing my case, and as they say, they overturn me like a sock: x-rays, resonances, ultrasound scans, a biopsy, liters and liters of blood analyzed”.
A disease never felt before
Matteo is almost relieved from that string of exams because he finally feels taken seriously. “The first time, lying in that white bed, I hear the haematologist pronounce ‘light chain amyloidosis’ I look at my wife to see if at least she has understood. Instead of terrible words like leukemia or cancer, I was lucky enough to have a disease I had never heard of before and I didn’t know whether to be relieved or terrified. As soon as the doctors left the room I started looking for information on the internet and I was disheartened: the stories I find are few and they all end badly, and also quickly “.
What are amyloidoses
Amyloidoses are a group of rare but serious diseases caused by deposits of fibrils made up of insoluble protein material (proteins and protein fragments) called amyloid. These deposits can be located in organs such as the kidneys, heart, liver, intestine, autonomic or peripheral nervous system and cause systemic or localized forms of disease. Immunoglobulin free light chain amyloidosis, also called AL amyloidosis, is the most common form of systemic amyloidosis in the Western world. Typical sites of amyloid deposits in AL amyloidosis are heart, kidneys, autonomic or peripheral nervous system, intestine, liver. In patients with light chain amyloidosis, the prognosis can vary significantly depending on the stage of the disease, the response to treatments, but especially the organs involved. The presence of heart damage is a major determinant of survival. To date, there is no definitive therapy for AL amyloidosis. Patients can undergo systemic or supportive treatments to improve symptoms and quality of life.
The ‘competitive malice’
Faced with that diagnosis, Matteo is very tried and as often happens when one is struck by an illness, he wonders why it was precisely him. “There are days, those with zero energy, in which I look back and see how much of my life I had to give up because of this disease, then I get sad”, Matteo reflects who, however, adds: “Then I give myself courage and do what the doctors tell me to do: don’t give up, keep hoping because new things are discovered every day. They tell me to put ‘competitive malice’, that of sportsmen engaged in a competition. That competitive nastiness is served, but of course the big deal is done by the treatments. And I, unluckily, was very lucky because even though I have to come to the hospital often for visits and blood tests, MRIs and ultrasound scans, it’s been years and no matter how tiring they have been, I’m here and I’m fine “.
The lesson learned
In short, it was worth holding on. Cures come, even for rare diseases. “In my life – concludes Matteo – some things have changed for the better. I spend more time with my family, I eat much better than before, I plan periodic holidays that have allowed me to see beautiful places. When I’m very tired I read, watch movies, keep my head busy. A rare disease is not necessarily a no-appeal sentence. And that’s why I’m talking about it: I would like stories like mine to be told more, precisely to help those like me who have had to face this situation “.
The ‘Let’s give voice to the future’ campaign
Hematological tumors, including leukemias, lymphomas and myelomas, represent almost 8% of all malignant tumors and according to the estimates of 2021, referring to 2020, they were responsible for about 29,000 new cases in our country. Among blood cancers, leukemias are certainly the best known. In Italy, approximately 8,000 new diagnoses of leukemia were expected in 2020, of which 4,700 men and 3,200 women. The 2022 edition of the campaign aims to raise public awareness on blood cancers and bring to light the challenges of those who have to fight against these diseases every day: from clinicians, researchers, patients to caregivers, with a new focus rare haematological cancers, including light chain amyloidosis and Waldenström’s macroglobulinemia, and adult forms of leukemia, such as chronic lymphatic leukemia. At the center of the campaign are once again the stories of those who are at the forefront of the fight against hematological cancers, through podcasts broadcast on the information portal lmcome.it, on the related Facebook and Instagram pages and on the YouTube and Spotify channels. The episodes, divided into two series and added to the three of the previous edition, bring out the point of view of science and research and of patients. After Lazio, the campaign will stop in Naples on 24 June and then there will be Padua (15 September) and Reggio Calabria (29 September).