Cornelia de Mariia

They took all the necessary tests from Masha, performed an EKG, an ultrasound of her internal organs, and an ultrasound of her hip joints. All the results came back the same: no structural abnormalities. An ophthalmologist checked her eyes and found no abnormalities in the retina. All this gave me hope; there was clearly nothing terrible. Only a consultation with the geneticist remained.

At that point, the thought of seeing a geneticist didn’t worry me much. If a genetic consult was recommended, so be it. I couldn’t even imagine that the word “genetics” could in any way affect my family. After all, I knew my lineage up to the seventh generation (thanks to my grandmother), and there had been no serious hereditary diseases.

The geneticist, a calm woman, asked me to undress Masha for the examination. She looked at Masha’s body very carefully and for quite a long time – especially compared to other specialists. She touched the fingers on Masha’s hands and feet, studying her face intently. Beside her stood a young woman, likely an intern, to whom the geneticist described each step of the examination and pointed out important details.

“Look here – that’s a third nipple.”

To say I was shocked to hear that would be an understatement. A third nipple? I was quickly reassured that it was a fairly common micro-anomaly found in many people, posed no danger, and would become almost unnoticeable over time.

“And has the big toe on her foot always had this unusual shape?”

A toe with an unusual shape? A toe is a toe. Yes, it did stand out a bit in its form, and she moved it in an unusual way. But so what?

“Small hands, small feet, the pinky finger on her hand is tiny,” the geneticist continued, before moving on to the usual questions about pregnancy, birth, and any family history of genetic conditions.

After the examination, the geneticist concluded, “At the time of this exam, the possibility of a genetic pathology seems unlikely.” I believe this moment marked the beginning of a series of strategic errors in diagnosing Masha’s condition, delaying a correct diagnosis for a long four years. And, of course, it fed my own internal denial about the genetic nature of her condition.

To confirm her conclusion, the doctor insisted on conducting a karyotype and TMS analysis.

The karyotype, put simply, is a person’s set of chromosomes. Normally, the genome has 46 chromosomes—44 of which are autosomal, determining hereditary traits (such as hair color and eye color). The final pair is the sex chromosomes, which define the karyotype: 46 XX for females and 46 XY for males. The karyotype can’t show individual genes or detect subtle abnormalities; it’s the simplest way to identify chromosomal disorders.

TMS, or tandem mass spectrometry, doesn’t examine hereditary material, but it does detect substances that deviate structurally from the norm, particularly amino acids. TMS helps diagnose metabolic disorders.

Of course, we’d do all this, but I have to admit, the upcoming MRI results worried me much more than these genetic tests. Genetics? What were they thinking? Highly unlikely.

In the hallway, mothers walked with their babies, sharing their problems with each other. People looked at us curiously, with some insisting on finding out why we were there and constantly trying to talk to me. I didn’t want to talk, much less share details. The doctors would treat us, and we’d go home – no need for candid discussions.

In the room next door was a boy whose mother was very talkative and openly showed me her son’s very thin legs and arms – really just bones covered in skin. She lamented that the doctors couldn’t figure out what was wrong but suspected genetics. How terrible! Genetics. How frightening it all was. And she spoke of it so calmly? Thank goodness it wasn’t us. Compared to these children, Masha looked like a perfectly healthy and lovely child. What were we doing here? I didn’t pay much attention to these conversations; I wasn’t interested in medical jargon, especially since it didn’t concern my child. When asked what was wrong with Masha, I answered vaguely. I didn’t want to go into detail, as I believed these were just temporary setbacks that would soon be resolved. There was no need for others to know.

Night was falling. The ward was gradually quieting down as everyone settled in to sleep. Masha peacefully fell asleep on my chest. I carefully “undocked” her, laid her in the little crib, and rolled it close to my bed. The moonlight illuminated nearly the entire room, allowing me to easily make out Masha’s face in the darkness. She lay there, snuffling softly. That narrow nasal passage again… Lost in anxious thoughts, I drifted off to sleep.

Very soon, I came to my senses. Not fully awake, I was in a kind of daze, aware of only two things: the moonlight streaming through the window and a deep, inexplicable fear gripping me. But fear of what? I propped myself up on my elbows and looked carefully at Masha. It was with the onset of her seizures that I began to understand the phrase “heart in your throat.” It turns out it’s not just a poetic expression but a real feeling – a sudden, overwhelming fear, as if your entire body is plunging downward, sinking into your feet. That’s exactly what happened to me at that moment. Masha’s face was twisted, her eyes bulging, and her little mouth was skewed to one side, moving in a terrifying way, as if trying to grasp for air. Her hands were tense, making strange, jerky motions in the air. This episode looked nothing like a simple fainting spell. It was terrifying.

I don’t know how long I stood there, paralyzed by fear, watching her – it felt like an eternity, but in reality, it was only seconds. The fear loosened its grip just enough to let maternal instinct take over.

I did the first thing that came to mind: I scooped her up in my arms and ran to find a doctor. No one was at the nurses’ station, but at the end of the hall, I could hear the sound of glass bottles clinking together. It had to be a nurse. I rushed toward the sound, clutching Masha tightly to me.

I burst into the room where the noise was coming from. I must have looked quite a sight because the nurse, without asking a single question, immediately dropped what she was doing and simply said, “To the on-call doctor!”

Now, the three of us were running through the quiet corridors, the nurse leading, me following with Masha in my arms. I kept glancing down at her face, trying to see if she was breathing. We descended to the first floor, and the nurse knocked insistently on the on-call room door. Silence. She knocked again, louder and more urgently. I looked at Masha; she had started breathing slightly, and only then did I notice her lips had taken on a bluish tint. The door finally opened, and a woman, looking very drowsy and clearly just woken up, peered out.

“What’s the matter?” the doctor asked in an annoyed tone.

“The child’s unwell,” the nurse replied.

The doctor slowly stepped out into the corridor and asked me to lay Masha on the changing table along the wall. She examined her briefly.

“The child’s fine. Why are you running around the halls at night?” she asked.

I began explaining that Masha had stopped breathing and turned blue, and I was terrified she was dying or that her heart might have stopped.

The doctor huffed irritably.

“That’s not how people die! You should stay in the room and wait for the doctor instead of running around with the child.”

“I’m sorry, but I don’t know how children die!” I snapped, grabbing Masha and heading back to our room.

I was fuming. Why? Why are our doctors like this? Why do they talk to parents in hospitals like they’re clueless students? Why can’t they just speak humanely? Is it all just routine to them? Are they too tired, too fed up? I didn’t yet realize that there were, unfortunately, many doctors like this, and I’d have to face them over and over. The cynicism, the indifference, the unwillingness to explain anything. They treat you like a pesky fly they’re eager to swat away.

In time, I began to understand doctors like this. For them, it’s routine, and explaining the same thing to every terrified mother is exhausting. Running around the hospital with a child at night might seem irrational, but what’s the right way to act? What are you supposed to do when you see your child stop breathing, turning blue before your eyes? How is a mother supposed to judge if it’s death or just a fainting spell? Who cares about rationality and hospital rules at that moment? The way doctors respond to your panic can often throw you off even more. You don’t know if you’re overreacting and if it’s just a common occurrence that they can quickly fix, or if it’s so awful that you might as well not bother running around at night.

A nurse came into the room. She was very attentive but looked sad. She’d likely taken more heat for our “nightly run” than I had. She connected Masha to a machine to check all her vitals, turned on the oxygen. Everything was normal. Masha had returned to her usual state, her face regaining its normal color.

During the morning rounds, the doctors decided to conduct an EEG video monitoring. Everything pointed too closely to epileptic seizures. EEG – electroencephalography – is a type of brain scan that measures electrical activity, identifying pathological areas, the nature and location of abnormalities, deviations from normal brain function, and tracking its condition over time. We were scheduled for 1 p.m., and we were to report to the hospital’s neurology department, located in another building.

I was nervous. Now, as a professional in the field of epilepsy, I know for sure that’s what it was. But back then, I still considered other possibilities. What if these fainting episodes were caused by something else? I needed answers as quickly as possible.

As lunchtime approached, the nurse explained where the neurology building was located. The hospital was more like a medical campus, with a large, sprawling layout. It was February. Cold and icy. Somehow, I’d need to get there with a child in my arms. Masha was tired and clearly about to fall asleep. I couldn’t let that happen. To get an accurate clinical picture of her brain function, Masha needed to fall asleep during the EEG and sleep for at least two hours. I started rushing.

My belongings were stored in what they called a “cloakroom.” In the basement of the building was a room with large iron shelves holding huge cloth bags where patients’ items were kept, each bag carefully labeled. This system was overseen by a stern woman in a white coat, and it operated on a strict schedule. “Strange system,” I thought at the time. Over the years, I learned that all our hospitals use this system.

I asked the nurse to keep an eye on Masha and, ideally, to prevent her from dozing off. I hurried down to the cloakroom. But, as it turned out, the cloakroom was closed for lunch. Another obstacle. What was I to do? It was nearly 1 p.m., and Masha was already starting to close her sleepy eyes. I went down again, hoping to find someone, anyone, in the dim basement. But no luck. The cold, dark basement was empty, all the doors locked. The cloakroom wouldn’t open for another hour. Well, I’d just have to go in my sneakers and the hospital coat the nurse lent me. After all, it wasn’t that far.

I bundled up Masha and set off. Stepping outside and taking a few steps, I realized this would be a long walk. It was terribly icy, and I had to take small, careful steps to keep my balance. The sneakers were dangerously slippery, and Masha felt especially heavy in her winter clothes. The sun glinted off the icy crust on the road. It wasn’t much farther – halfway there already. Just at that moment, my foot slipped forward sharply, and I was airborne, falling backward with my full weight. It only lasted a couple of seconds, but I managed to clutch Masha tightly to my body so that she’d land on top of me. I heard the startled cry of a woman nearby.

“A woman with a child just fell really hard, please help!” Her voice was filled with horror. In that moment, it crossed my mind that my “flight” must have been quite a spectacle. I was focused on examining Masha; she was crying, but more from fear than anything else. She was all right, thank God. It wasn’t until the woman came to help us that I realized how difficult it would be for me to get up – the pain in my back was excruciating. I don’t even know how I made it to the building, thanks to the kind woman who helped us up and walked us there, holding me tightly by the arm. The pain was unbearable. I started to worry that I’d injured myself. The guard, who had witnessed the whole scene, helped me up the stairs and animatedly described the fall to the doctor who was supposed to perform the EEG.

We got into the elevator – thank goodness there was one. There was no way I’d have managed the stairs. The doctor stepped in with us, looking at me with sad eyes.

“Why were you in such a hurry? I just got here, and we still have to set everything up,” he said.

My hands were trembling as I clutched Masha with all my strength. Why was I in such a hurry? I wanted to grab him by the throat right there in the elevator.

Why was I rushing?

Because I’m a responsible person. And if they tell me to be at a serious exam at 1 p.m. that will take three hours, I’ll be there at 1 p.m.

Because it was already past 2 p.m., and our examination should have already started, yet here we were, still in the elevator with a doctor who wasn’t rushing at all.

Because something inexplicable was happening with my child, and all the doctors moved like they were sleepwalking. They had no reason to rush; the workday was ticking along just fine!

Panic! Looking back now, I realize I was living in a state of panic at that time. That’s the first thing that happens to you! You’re in constant turmoil, making mistakes, always on edge, trying to “fix” everything as fast as possible. It feels like every day, every minute counts. You want to complete all the exams, see all the doctors, and get the prescriptions that will put an end to it all. It feels like everyone around you is moving at a turtle’s pace when every minute matters (and, in many cases, it truly does). You’re missing a cool head. A mother’s instinct drives you to walk in ice and cold in sneakers, charging into the fray. You make unnecessary, sometimes outright dangerous moves. You’re running on adrenaline. And it’s so important in these moments to have people around. People who are empathetic and level-headed. Not those who’ll just add to the tension and guilt or dismiss the whole situation. But those who’ll understand, explain, offer comfort when needed, and even slow you down at times. Ideally, this person should be a doctor. But not everyone is lucky enough to find such a doctor along the way.

They looked at me with pity and a kind of bewilderment. I understand that reaction now. Many people see special-needs mothers as irrational and unhinged. And, in some ways, we are. Why not just wait for the cloakroom to open and go later? Why not call the doctor and reschedule the exam? Why couldn’t the nurse suggest a more reasonable option besides, “It’s no big deal, just go in your sneakers – it’s not far!” Today, I’d definitely see plenty of other ways to handle the situation, but back then… Back then, I needed to save her.

We arrived, and I remember it clearly, on the fourth floor. The EEG room, of course, was all the way at the end of a long corridor. I was desperate to get there and free up my hands, which were growing numb. They led us into a small room with two large beds and a chair. I laid Masha down on one of the beds and carefully sat beside her. Each movement sent a sharp pain through my lower back and tailbone. More than anything, I wanted to lie down, but there was a long process ahead of us and the journey back. I pushed those thoughts aside.

They began prepping Masha, fitting her with a cap full of electrodes. She was fussy and whimpering. They filled each electrode with a special gel to facilitate the transmission of electrical impulses. Now came the hardest part: getting her to sleep. It was essential to conduct the study while she slept, to observe what was happening in her brain during the transition between sleep and wakefulness. I took Masha in my arms and settled into the chair, trying to find a comfortable position to stay in for at least two hours. But my back was relentlessly throbbing. It didn’t matter; I’d have to endure it. I nursed Masha and rocked her gently. Thankfully, she fell asleep within ten minutes. That was good. We could complete the test without repeating this entire ordeal.

“No epileptic activity detected,” was the result.

“What does that mean?”

“It doesn’t rule out epilepsy, but there’s no activity at this time,” the doctor explained. Clear as mud. I don’t remember how we got back, but given that I’m writing about it now, it must have been without any major incidents. Most likely, my mind was occupied with processing the information. The absence of activity gave me some optimism. But what, then, was happening? With each step, more questions arose, and no one was providing answers. My head was spinning.

_________

During the morning rounds, a neurologist came by. She made a good impression – positive and confident. After examining Masha and reviewing the EEG results, she concluded: these were definitely epileptic seizures. The EEG might simply not have captured activity during the brief monitoring, but that didn’t mean it wasn’t there. Longer monitoring sessions were necessary; two hours was far too short.

With a smile, she handed me a booklet titled How to Live with Epilepsy and an A4 sheet listing the treatment instructions: “Convulex,” to be taken at strict intervals, starting with three drops and gradually increasing the dose.

I sat down on the bed and stared at these pieces of paper, feeling completely lost. How to live with epilepsy? I flipped briefly through the booklet. Just like that, without any real investigation or understanding of the cause, they handed me this book as if it were a sentence. Was this all? Or was I making a mountain out of a molehill? Maybe we’d start this “Convulex,” and it would all just stop?

I regret not keeping that booklet. A few months later, I threw it away. There was no truly useful or important information about epilepsy in newborns. The more I delved into the medical details, the more puzzled I became. Why don’t doctors provide genuinely helpful information?

“You don’t die from epilepsy,” the EEG doctor had once told me after another monitoring session.

At the time, that phrase reassured me, but now… Now, I’m astonished, looking back. Seriously? That’s it? That’s all you have to say to the mother of a newborn with a severe form of epilepsy? It’s absurd! Where’s the information on types of epilepsy, the statistics on the effectiveness of antiepileptic drugs, the risks and potential consequences? Where’s the plan of action? If this information were available, perhaps parents wouldn’t be left in shock, frantically consulting doctors, raising exorbitant sums for treatment abroad, and dealing with countless “not’s.” Isn’t it a doctor’s duty to provide information?

But these frustrations came later, once I started to research everything myself. At that time, I was satisfied. We’d try the Convulex, and it would all go away.

In the room across the hall, a child was crying. Constantly. Odd. I peeked in. It was a large room, meant for four mothers and their babies. There was no one there, just a tiny crib with a baby who was crying non-stop. This went on all day until a nurse finally took the child away. Where? I found out the baby’s mother had left and never returned. The baby was taken to the ward for abandoned children. It was shocking. I was beginning to immerse myself in a world very different from my own.

_________

The next morning, Masha woke up lethargic. She ate a little but without much appetite, then spit up a lot. This made me uneasy. I picked her up and went out into the corridor to check if the doctors’ rounds would be soon or if I should call a doctor earlier. At that moment, Masha vomited on me – this was something new. The doctors arrived, examined her, and seemed concerned. Vomiting? Most likely rotavirus, and with so many small children around, they decided to transfer us to another hospital, to the infectious diseases ward.

I began to panic. Another hospital, yet no real answers. What was happening to my child? The main questions remained unresolved. I hurriedly packed up. Every movement was painful – my back was still causing me problems, but the thought of checking my own health didn’t even cross my mind. And once again, we embarked on yet another journey into the unknown.

The admissions room. A small space with two desks, an examination table, and a changing table – a standard setup. And, of course, the attending doctor and a nurse. I carried Masha in, still dressed in her winter clothes, and laid her on the table. The paramedic helped bring in all my bags.

“Why didn’t you change shoes in the hallway? Change your shoes, undress, and undress the child as well so we can examine her,” the doctor said, studying our papers.

Right. How was I supposed to manage all this? I started with myself, then undressed Masha. Where to put all these clothes? I piled them onto a chair. Meanwhile, they were firing off a barrage of questions and asking me to sign various forms. I had to do everything on the go – holding Masha with one hand to keep her from falling off the table, while holding a pen with the other.

It would’ve been comical if it hadn’t been so sad. This whole admissions procedure can sometimes take hours. Why put the child and mother through this? I always wonder – why can’t they first settle patients in a room and then handle all these procedures? What’s stopping them?

The doctor prescribed the standard set: Smecta, Rehydron, Motilium. And, of course, we needed to collect urine and stool samples. Masha would latch onto the breast, but within seconds, everything came back up. Attempts to give her water through a syringe ended the same way.

The next two days passed in much the same way. The nurses kept bringing huge glass bottles of water and demanding urine and stool samples for testing. Just like clockwork. I was baffled and asked to speak with the head of the department. I had a list of questions: how was I supposed to collect a stool sample when my child hadn’t eaten or drunk much in three days? How could I keep pouring water into her when everything came back up? How was I supposed to give her Motilium – an anti-nausea and anti-vomiting medication – if it had the same effect as the water? It was a vicious cycle.

A kind, young nurse listened to my complaints attentively and sympathetically, shrugged, and simply noted that drinking was essential to prevent dehydration. But she didn’t explain how I was supposed to manage that. This was like a children’s game.

Meanwhile, Masha was growing visibly weaker. She barely moved, letting out small, weak sounds. Night fell outside. The hallways grew quiet as all the doctors left. Masha lay there in just a diaper – it wasn’t hot, but her cheeks were starting to flush. A nurse brought a thermometer. Horror gripped me when, just a few minutes later, I saw the reading: 40°C (104°F). In a panic, I demanded the on-call doctor. Luckily, it was a man. With just one look, he immediately grew concerned. Dehydration was setting in. He and the nurse quickly inserted a catheter and began an IV drip for Masha.

From 7 p.m. until 1 a.m. – six hours – I lay in a contorted position, holding Masha’s hand, although she was so weak she barely resisted. My back was killing me, but I didn’t dare take any painkillers since I was breastfeeding. The doctor returned frequently to check on her. After three hours, Masha’s condition improved. Her breathing steadied, her fever dropped significantly, and she finally fell asleep. But I couldn’t sleep. I was bewildered. Why hadn’t they done this sooner? How could anyone leave, knowing there was a child in the ward who hadn’t had fluids in three days, was vomiting uncontrollably, and had an unclear neurological status overall? Why couldn’t they give such babies an anti-nausea injection and start an IV right away? Why let it get to a dangerous point?