"Until the aorta explodes": How I live with Marfan syndrome
THE EXISTENCE OF GENETIC DISEASES ARE HEARD, but very few people imagine how many are there. Not all are detected at birth: for example, Marfan syndrome becomes known much later. This is a genetic disease in which fibrillin protein synthesis is impaired - it is responsible for the elasticity and contractility of the connective tissue. Many systems and tissues of the body are affected: vessels and heart, bones and joints, eyes and lungs. People with this disease are usually tall, with long arms, legs, hands and feet; their extended fingers in medical textbooks are called "spider". Treatment and prognosis directly depend on the severity: for example, if the aorta, the largest vessel in the human body, is affected, the condition becomes life threatening. We talked with Svetlana H. about how she lives with Marfan syndrome.
I am thirty years old, and the diagnosis became known when I was six. I grew rapidly, and at the next scheduled examination, the doctor heard a heart murmur; after that, genetics was used and a presumptive diagnosis was Marfan syndrome; In the status of "presumable" he remained for many years. The disease was then poorly understood, and the only recommendations were observation of a cardiologist and a ban on physical activity. Then, however, it became clear that physical therapy was necessary, and I went for a swim. It worked well: I was engaged in the Olympic reserve school and at the age of nine I was even invited to join a professional team. The cardiologist and parents, however, were against increasing loads - upset, I gave up swimming in general.
As they matured, heart problems worsened: I grew, and with me the aorta, the largest vessel in the body, stretched. Already in childhood all parameters of the aorta exceeded normal values even for an adult. Problems with heart valves, too, were on the rise. When I was ten years old, I had the opportunity to attend a consultation of doctors - at that time it was rare, and even in free medicine, that is, the case was hard. The question of cardiac surgery was resolved, but there was no direct indication for the operation - just a "sluggish deterioration", and "it is not known how the tissues will behave after the operation, maybe they will spread." Genetically, to confirm or deny the diagnosis then they did not offer - whether the doctors were not aware of this possibility, or if it simply did not exist then.
The course of the disease is very difficult, and treatment must be approached responsibly, because not only the quality of life, but also itself is at stake: according to statistics, 90-95% of patients do not reach 40-50 years old
In general, the only examinations were ECG, ECHO, Holter monitoring (round-the-clock ECG in the conditions of normal daily activity, when ECG sensors are glued to the body. - Ed.), cardiologist visits, supportive care, and no-hurt advice. It wasn't very good for me to follow him. When I was thirteen years old, having lain at home for two weeks with a temperature of under forty, I still went to the infectious diseases hospital - and in the emergency room, the doctor, seeing my throat, turned pale and told my mother that I had diphtheria. Mom burst into tears, and I was transferred to the ward and placed in a ward with those recovering from the flu - a “wonderful” solution. Well, that the diagnosis was not confirmed, and I still did not have diphtheria. Nevertheless, any disease, especially affecting the airways, negatively affects the heart, which in my case is simply dangerous.
All my life I have been living with a diagnosis of connective tissue dysplasia, and Marfan syndrome was just a phenotype, which means that I had manifestations of the syndrome, but it was not genetically confirmed. According to some doctors, especially those who saw me for the first time, he was absent altogether - after all, there was no complete set of classic symptoms. I have everything more or less normal with the bones and the state of the spine, in place of the lens of the eye; the disease can be suspected only due to abnormalities of the cardiovascular system, high growth, arachnodactyly (the same “spider fingers”) and increased elasticity. Even now, when I tell doctors about my anamnesis, I mention dysplasia more often than Marfan syndrome - otherwise they just nod politely and pass by the ears.
Since I was not bothered by the pain, I lived like a normal teenager. Mom worried about my heart, but incomplete awareness helped me to go this way much easier. If, then, she was aware of all the surprises that the disease can present, I do not know how to cope with this. I am even glad that now she knows no more than before - now I think about her heart. In reality, it was only possible to confirm the diagnosis in the thirtieth year of life: I myself passed the analysis for gene mutations in the framework of the so-called connective tissue disease panel. With its help, they revealed a mutation characteristic of Marfan syndrome, but not in “hot spots” - perhaps that is why I am not a typical representative of the disease.
Marfan syndrome is a genetic disease, but it does not have to occur in any of the relatives. My parents, for example, have no manifestations, either externally or "internally." The disease is based on mutations in the gene responsible for the synthesis of fibrillin, the most important structural protein of the extracellular matrix, which gives elasticity and contractility of the connective tissue. It affects the organs with the greatest concentration of connective tissue: heart, eyes, back, ligaments. The syndrome is not treated, and any therapy is directed to specific affected organs - for example, I should take a pill course that helps the cardiovascular system. The course of the disease is very difficult, and treatment must be approached responsibly, because not only the quality of life, but also itself is at stake: according to statistics, 90-95% of patients do not reach 40-50 years old.
The restrictions primarily concern physical exertion. You can’t practice professional sports, although ironically, I have plenty of data - for example, tall growth and tremendous flexibility (I can still throw my leg over my head or sit in the lotus pose with a running start). People with Marfan syndrome are shown sensible sport without sudden movements, such as swimming. When traveling, my first-aid kit is no more than that of an ordinary person, no specifics - but here it’s rather not a fact of the syndrome, but a degree of its manifestation.
Because of the "puppet theater," as they called the screen between me and the operating doctors, I heard the obstetrician constantly repeat to the assistants: "Do not tear the fabric, do not tear the fabric!"
I faced the seriousness of the problem when my husband and I wanted a child. Geneticist sentenced to surrogacy or possible pregnancy after cardiac surgery, to which there was no direct evidence. They explained to me that the function of the heart is enough for my own life support, but during pregnancy the load doubles. I insisted that with a relatively mild degree of damage to the heart and blood vessels, normal pregnancy is possible. I visited all the cardiology centers in Moscow, shed a lot of tears and still got permission, subject to constant monitoring by a cardiologist. So, two months later I came to register with the cardiac perinatal center, which agreed to lead me.
Of course, it was very scary to decide on pregnancy, especially after the ambiguous forecast of doctors - my aorta is still at a subcritical level. I hope there it will remain - to the critical only a few millimeters. Hope was infused by a gynecologist, who spent half his life studying connective tissue dysplasia. After talking with her, I realized that if I did not try to bear the child against my will, I would regret all my life. Somewhere deep inside, I took the risk and have no regrets.
The pregnancy went great, and the daughter was born through a planned cesarean section a little ahead of time. Doctors were terribly afraid that the aorta would "jerk" from maximum loads and I would die right in the maternity hospital, where I was the most "heavy" woman in labor. My daughter is my victory, and we called her Victoria. Because of the "puppet theater," as they called the screen between me and the operating doctors, I heard the obstetrician constantly repeat to the assistants: "Do not tear the fabric, do not tear the fabric!" - but at that moment I was ready for anything, so long as the child was fine. The operation lasted twice as long as usual, the doctor was wet, as if a bucket of water had been poured onto her. I almost lost consciousness a couple of times, the anesthesiologist brought me to my senses, and then, already in intensive care, I learned that I had lost almost a liter of blood. The state of my cardiovascular system remains unchanged, that is, the same as before pregnancy.
Looking back at my youth, I understand that I was lucky to some extent, so to speak. Yes, I was not spared high growth, the plate on the teeth, one shoulder above the other - of course, I stood out from the crowd, there were ridicule among peers and tears at night in the bathroom. But this was the case with many, such is teenage life. After talking with mothers of children with more severe Marfan syndrome, I realized that my life could be much harder.
I nurtured my own optimism myself, in grains - at the same time I am an avid paranoid, which is generally inherent in people with Marfan syndrome. There are many articles and information on the Internet, in which it is very easy to get confused and wind yourself even stronger. Professionals who understand the problem, units. There are groups and forums where people describe their symptoms, share experiences, and even “set” themselves and others diagnoses; many have studied the problem well and will give odds to some doctors in this area. But the majority write about inevitability, about moral and physical pain, about surviving - that is why I don’t sit in these groups, I don’t want to drive myself into feelings even deeper. Of course, I understand my perspectives, but I always look for positive things in the world around me, I try not to dwell on problems - otherwise it is extremely difficult to get out of the growing panic. Of course, it is not necessary to turn a blind eye to your diagnosis as if it is not there — it is, and it is very dangerous, but this is not a stigma and not a sentence.
Only the closest people know about my peculiarities, and many people from the environment ask questions about the second child. But I can not decide on this step, just do not have the right. Even before the birth of my daughter, I took on enormous responsibility for her and before her. I may have to deal with heart surgery, and I am very scared. Over the years, my body makes itself felt more and more, the number of visits to doctors is growing every year - but this is not a reason to sit and count the remaining days. It can be very difficult for me. Thoughts about the fate of my daughter, who is already two years old, and about the length of her own life, sometimes we are not allowed to sleep for weeks, but I do everything possible to minimize the manifestations of the syndrome - because if I give in, it will not be better. You need to live your life, not live it.
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