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The first symptom was disturbed sensation in the left leg. I remembered this feeling from my childhood, when I entered the nettles – says Zbigniew Pawłowski. The diagnosis was a blow, but the man still believes that he was very lucky – he found good specialists who took care of him quickly, which is not obvious with such a rare disease as his. In Poland, amyloidosis has so far been diagnosed in 30 people, although there may be many more of them. It is a disease of the whole organism – it attacks the heart, liver, digestive system, nerves …
- Transthyretin amyloidase is a very rare genetic disease. So far, 30 people have been diagnosed in Poland
- Amyloidosis belongs to the so-called storage diseases – their feature is the deposition of certain substances in the patient’s tissues
- The disease destroyed Mr. Benedict’s body so much that there was not much that could be done. “I saw my husband suffer tremendously,” recalls his wife
- When Mr. Zbigniew got to know the diagnosis, he asked the doctor: what now? He spread his hands helplessly and said: I don’t know. – It was the most difficult for me: this enormous powerlessness
- You can find more up-to-date information on the TvoiLokony home page
Amyloidosis – what is this disease?
Transthyretin amyloidase (ATTR) is a very rare genetic disease – in Poland, 30 people have been diagnosed so far, although according to specialists, in the following years, due to greater diagnostic possibilities, there may be many more of them. So far, however, the disease is little known and its symptoms are not very characteristic, which does not facilitate diagnosis.
– The first symptom of the disease was a sensory disturbance in the tibia of the left leg. I remembered this feeling from my childhood, when I entered the nettles. I calmed down for a moment when all the tests were normal. I have always been an athlete, I felt healthy, I tried not to pay attention to my ailments, but instead of disappearing, they appeared in a new form. Abnormal sensation in the right leg, fatigue, difficulty running, feeling of heavy legs. It was difficult for me not only to walk in the mountains, but even to get to the third floor – says Zbigniew Pawłowski, patient, president of the TTR Amyloidosis Families Association.
Amyloidosis belongs to the so-called storage diseases, i.e. diseases which are characterized by the accumulation of substances in the tissues of the patient. Here, proteins accumulate in various organs – most often in the heart and kidneys, but also in the spleen, liver, nervous system, and digestive tract. Hence, they stop working properly.
– In a healthy organism, proteins disintegrate after some time and are replaced by new ones with the same structure. In patients with amyloidosis, the protein is not biodegradable and forms permanent deposits in various organs. In the next stage, it enters the bloodstream and from there to other organs, causing them to be disturbed – explains prof. dr hab. n. med. Magdalena Kostkiewicz, from the Department of Heart and Vascular Diseases at the Jagiellonian University Medical College at the John Paul II in Krakow.
Diagnosing the patient at the earliest possible stage of the disease is extremely important because the longer amyloidosis develops in the body, the more its effects are burdensome for the patient. Unfortunately, it usually takes several years from the first symptoms of transthyretin amyloidosis to appear in a patient. It also happens that the correct diagnosis is not made at all.
“It happened to me that when I asked for a prescription, the doctor asked what kind of disease it was that required me to take this drug for so many months. When I said, she asked me to spell it because she had never heard of her – says the patient.
The amyloidase had destroyed his body so much that there was little that could be done
The problem is that over the years of life in the unawareness of the disease the body is struggling with, the patient’s condition worsens more and more, and often at the time of diagnosis, the patient is exhausted and exhausted, while he should have the strength to fight.
– Figuratively speaking, in transthyretin amyloidosis with cardiomyopathy (ATTR-CM), deposits of amyloid, an abnormal protein, build up in the heart, damaging the heart muscle and causing heart failure. Dyspnoea appears – initially after exercise, then swelling during the simplest activities. In turn, in amyloid polyneuropathy (ATTR-FAP), peripheral nerves are damaged. The patient complains of muscle weakness, numbness in the arms and legs, difficulty walking, first moves slower, then with help, finally stops walking – explains Prof. dr hab. n. med. Magdalena Kostkiewicz, from the Department of Heart and Vascular Diseases at the Jagiellonian University Medical College at the John Paul II in Krakow.
Modern therapies stop the progression of the disease, but cannot reverse the changes. The road to diagnosis is extremely difficult – the need for consultations, inter alia, internal medicine, cardiology, neurology, hematology and genetics. If the diagnosis is made too late, the disease causes irreparable damage to the body. This was the case with Mr. Benedict, who took four years to find the cause of his health problems – sensorimotor neuropathy, weight loss and diarrhea which were devastating the body. When he finally found a doctor who diagnosed amyloidosis, there was no help for him. Mr. Benedict lived for about a year and a half.
– The disease destroyed his body so much that there was not much that could be done. I saw my husband suffer tremendously. It was such a daily fall of a man who cannot make it to the toilet, standing by the bed. His body was completely devastated by diarrhea, which was not helped by any anti-diarrheal drugs. There were also no medications for the loss of sensation. Even rehabilitation did not help, it did not improve, it did not strengthen. A physiotherapist came to my husband and massaged his legs, but it was very exhausting for him. And yet it is the most gentle therapy he could have had – says Małgorzata Wolszon.
The sick became more and more disabled. He could not exercise because amyloidosis is a disease of the whole organism that affects the nervous system, heart, liver and digestive system.
— There was no therapy that could help my husband. No hope of improvement. It is cruel to look at a loved one who cannot be helped in any way. He was dying of starvation – says Mrs. Małgorzata in an interview published in the album «Faces of ATTR. Stories of patients with amyloidosis », published by the Institute of Patient Rights and Health Education.
Amyloidosis turned his world upside down. “The most difficult was this immense powerlessness”
When Mr. Zbigniew was diagnosed, satisfaction with the fact that he finally knew what it was about was mixed with helplessness. – The worst thing for me was that once the cause of my condition was cleared up, when there was hope for targeted action, it turned out that the treatment options were very limited. To my question, “what now?”, The doctor spread his hands helplessly and said, “I don’t know.” It was the most difficult for me: this enormous powerlessness – recalls Mr. Zbigniew.
The disease turned his world upside down. He is a PE teacher by education, he has always been very active. – And suddenly being locked up in a disease that limits everything. Frankly speaking, it’s hard to accept – he says.
For many people, this situation is a precursor to another disease – depression. Fortunately, Mr. Zbigniew is an optimist by nature, so instead of wringing his hands, he started to act. – You have to sleep with it and accept it. There is no other way out. What was put off, what was broken off, what was interrupted. You can’t fix it, you have to live with it. Someone once said that human disability is really in the head. I do not treat myself as a disabled person, I am simply sick – he says.
The search for the possibility of reaching treatment centers in England, looking for a medicine on their own began. In the end, we managed to get into the treatment program, under which Mr. Zbigniew takes a drug that inhibits the progression of the disease.
– It gives some hope that my life will be extended and its quality will improve. I am lucky that my body is not that exhausted. My active lifestyle so far helped me a lot. The musculature and body weight I had before prevented the disease from wreaking havoc before I started taking medications, he says.
Amyloidosis is a genetically determined, i.e. family disease – the disease gene was also detected in Zbigniew’s daughters, in his cousin and his daughters, and in his brother’s daughter. The age of onset is very different: from the third decade of life to old age. Specialists still do not know what determines the manifestation of the disease and why some carriers have symptoms of the disease and become ill, and why others do not.
An association that helps patients with amyloidosis
Instead of wringing his hands, Mr. Zbigniew started to act not only for himself but also for others. – With a group of patients and their families (you have to be aware that the whole family is involved in this disease, which must create appropriate conditions for the patient, take care of him, support him and help him almost at every step), we managed to get together and reactivate Former Association of Families with TTR Amyloidosis.
– Our goal is to shorten the path from diagnosis to treatment. The information on our website may narrow the field of diagnosis and make it easier to reach centers or specialists who have extensive knowledge in this topic. We also want to share our experience with other patients and support each other. It is often about trivial matters: what diet to use, what to eat and what to avoid, what activity to take and with what intensity – everything we did not know. We tested it on ourselves, but we know it now, so we can tell it to others, ‘he says.
Mr. Zbigniew assures that he can enjoy small matters. – I’m optimistic by nature, but now I appreciate everything more.
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Zdrowie.pap.pl/ Monika Wysocka
The article is based on the press meeting “TTR amyloidosis – a rare disease of patients with a big heart”, which took place on March 30, 2021 in PAP.
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