“Until the aorta ruptures”: How I Live With Marfan Syndrome

EVERYONE HAD HEARED ABOUT THE EXISTENCE OF GENETIC DISEASES , but few people imagine how many there are. 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 disrupted – it is responsible for the elasticity and contractility of the connective tissue. Many systems and tissues of the body are affected: blood vessels and heart, bones and joints, eyes and lungs. People with this condition are usually tall with long arms, legs, hands, and feet; their extended fingers in medical textbooks are usually 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 to Svetlana H. about how she lives with Marfan’s syndrome.

I am thirty years old, and the diagnosis became known when I was six. I was growing rapidly, and at the next scheduled examination, the doctor heard a heart murmur; after that there was an appointment with a geneticist and a presumptive diagnosis – Marfan syndrome; it remained in the “presumptive” status for many years. The disease was then poorly understood, and the only recommendations were the observation of a cardiologist and a ban on physical activity. Then, however, it became clear that physiotherapy exercises were needed , and I went swimming. It turned out well: I studied at the Olympic reserve school and at the age of nine I was even invited to a professional team. The cardiologist and parents, however, were against increasing the load – frustrated, I quit swimming altogether. 

As I got older, my heart problems worsened: I grew, and the aorta, the largest vessel in the body, stretched with me. Already in childhood, all parameters of the aorta exceeded normal values ​​even for an adult. Heart valve problems were also on the rise. At the age of ten, I had the opportunity to attend a consultation of doctors – at that time it was a rarity, and even in free medicine, that is, the case was difficult. The issue of cardiac surgery was being resolved, but there were no direct indications for the operation – just “sluggish deterioration”, and “it is not known how the tissues will behave after the operation, maybe they will creep away.” At that time, they did not offer to genetically confirm or deny the diagnosis – either the doctors were not aware of such a possibility, or it simply did not exist then.

The course of the disease can be very difficult, and treatment must be approached responsibly, since not only the quality of life is at stake, but also the life itself: according to statistics, 90–95% of patients do not reach the age of 40–50

In general, the only examinations were ECG, ECHO, Holter monitoring (round-the-clock ECG in conditions of normal daily activity, when ECG sensors are glued to the body. – Ed.), Visits to a cardiologist, supportive therapy and advice “not to get sick.” I was not very good at following it. At the age of thirteen, after lying at home for two weeks with a temperature of about forty, I still ended up in an infectious diseases hospital – and in the emergency department, the doctor, seeing my throat, turned pale and announced to my mother that I had diphtheria. Mom burst into tears, and I was transferred to the department and placed in the ward with those recovering from the flu – a “miraculous” solution. It is good that the diagnosis was not confirmed and I still did not have diphtheria. Nevertheless, any disease, especially affecting the respiratory tract, negatively affects the heart, which in my case is simply dangerous.  

All my life I have lived with a diagnosis of connective tissue dysplasia, and Marfan’s syndrome was just a phenotype, which means that I had symptoms 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. Everything is more or less normal with my bones and the condition of the spine, the lens of the eye is in place; the disease can be suspected only due to pathologies of the cardiovascular system, high growth, arachnodactyly (those same “spider fingers”) and increased elasticity. Even now, when telling doctors about my medical history, I mention dysplasia more often than Marfan’s syndrome – otherwise they just politely nod and turn a deaf ear.

Since I was not worried about pain, I lived like an ordinary teenager. Mom was 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 she would have coped with it. I’m even glad that even now she knows no more than before – now I’m already thinking about her heart. In reality, it was possible to confirm the diagnosis only in the thirtieth year of life: I independently passed the analysis for gene mutations within the framework of the so-called panel of connective tissue diseases. With its help, a mutation characteristic of Marfan’s syndrome was identified, but not in “hot spots” – perhaps that is why I am not a typical representative of the disease.

Marfan syndrome is a genetic disorder, but it does not have to manifest itself 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 to the connective tissue. With it, organs with the greatest “concentration” of connective tissue are most affected: heart, eyes, back, ligaments. The syndrome is not cured, and any therapy is aimed at specific affected organs – for example, I have to take pills that help the cardiovascular system in courses . The course of the disease can be very difficult, and treatment must be approached responsibly, since not only the quality of life is at stake, but also the life itself: according to statistics, 90–95% of patients do not reach the age of 40–50.

Restrictions primarily relate to physical activity. You can’t go in for professional sports, although, ironically, I have just enough data – for example, high growth and colossal flexibility (I can still throw my leg over my head or sit in the lotus position from a running start). People with Marfan syndrome are shown intelligent non-violent sports such as swimming. When traveling, my first-aid kit is no more than that of an ordinary person, no specifics – but here it is more likely not the fact of the syndrome, but the degree of its manifestation.

Because of the “puppet theater”, as the screen between me and the operating doctors was called , I heard the obstetrician constantly repeat to the assistants: “Do not tear tissue, do not tear tissue!”

I faced the seriousness of the problem when my husband and I wanted a child. The geneticist was sentenced to surrogacy or possible pregnancy after cardiac surgery, for which there was no direct indication. It was explained to me that the function of the heart is sufficient 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, the normal course of pregnancy is possible. I visited all cardiology centers in Moscow, shed a sea of ​​tears and still received permission, subject to constant supervision of a cardiologist. So, two months later I came to get registered at the cardiological perinatal center, which agreed to lead me.  

Of course, it was very scary to decide on a pregnancy, especially after the doctors’ ambiguous predictions – my aorta is still at a subcritical level. I hope it will remain there – only a few millimeters to the critical point. Hope was inspired by a gynecologist who has devoted half her life to the study of connective tissue dysplasia. After talking with her, I realized that if I don’t try to bear the child against my will, I will regret it all my life. Somewhere deep inside I took this risk and I do not regret it.

The pregnancy went well, and the daughter was born through a planned caesarean section a little ahead of schedule. Doctors were madly afraid that the aorta would “burst” from the maximum loads and I would die right in the hospital, where I was the “hardest” woman in labor. My daughter is my victory, and we named her Victoria. Because of the “puppet theater”, as the screen between me and the operating doctors was called, I heard the obstetrician constantly repeat to the assistants: “Do not tear tissue, do not tear tissue!” – but at that moment I was ready for anything, if only everything was in order with the child. The operation lasted twice as long as usual, the doctor was wet, as if a bucket of water had been poured over her. A couple of times I almost lost consciousness, 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 remained unchanged, that is, the same as before pregnancy. 

Looking back at my youth, I understand that I am somewhat lucky, so to speak. Yes, I was not spared by my tall stature, the plate on my teeth, one shoulder higher than the other – of course, I stood out from the crowd, there were ridicule among my peers and tears in the bathroom at night. But many people had this, such is the teenage life. After talking with the mothers of children with more severe Marfan syndrome, I realized that my life could be much more difficult.

I cultivated my optimism myself, bit by bit – while I am an inveterate 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 up even stronger. There are only a few specialists who understand the problem. There are groups and forums where people describe their symptoms, share experiences, and even “diagnose” themselves and others; many have studied the problem well and will give odds to some doctors in this area. But most write about inevitability, about moral and physical pain, about living out – that’s why I don’t sit in these groups, I don’t want to drive myself into experiences even deeper. Of course, I understand my prospects, but I always look for the positive 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, you do not need to close your eyes to your diagnosis, as if it does not exist – it exists and is very dangerous, but this is not a stigma and not a sentence.

Only the closest ones know about my peculiarity, and many people from the environment ask questions about the second child. But I cannot decide on this step, I just have no right. Even before the birth of my daughter, I assumed a colossal responsibility for her and before her. I may have to deal with cardiac 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 are sometimes not allowed to sleep for weeks, but I do everything possible to minimize the symptoms of the syndrome – after all, if I give up, it will not get better. You need to live your life, not live it. 

local_offerevent_note July 24, 2021

account_box mydietblog

Leave a Reply

Your email address will not be published. Required fields are marked *