Natan's Chance
Donation protected
On March 7, 2013 by the means of cesarean incision in blood, sweat, fear, panic and screams I gave birth to my dearest son Natan. Here I was, first-time mom, vulnerable and unguarded, tapping into the unfamiliar territory of what’s known as “motherhood”. I was in love, happy and so grateful to be his mom.
After the routine examination at the hospital Natan was pronounced healthy. The nurse said “your boy is 10 out of 10” perfectly healthy. In my wildest dreams I would have never imagined how misleading these two words “perfectly healthy” were.
November 20, 2013, Natan is 7 months; it is my third visit to the Staten Island Hospital ER after inconsolable screaming outbursts lasting over 3 hours. I am repeatedly being told he is fine, but something inside tells me they are wrong. Suddenly, I see my son’s body clutching in very rhythmic jerky movements, I panic and call the attending pediatrician. She explains, it is nothing serious just a muscle reflex and I should take him home. I am on the edge of losing my patience - obviously the doctor has no idea what she is talking about. I confront her and explain he is having a seizure. She automatically becomes defensive and threatens to call her supervisor if I won’t leave. I refuse and ask for hospital admission and appropriate testing. She continues to deny me help. I calmly inform her that I will be more than pleased to speak with her superior and unless someone physically removes me from this hospital I am not going anywhere until I see a neurologist. She leaves the room, flushed and angry, comes back after few minutes and approves my son’s admission. The next day based on an EEG scan the neurologist diagnoses Natan with a form of epilepsy called infantile spasms.
This is where it all began, the onset of the disabling fear of losing someone I love so much and the shock of being so helpless. There is nothing worse in life than to see your child suffer, it crushes you. In a matter of minutes you start to realize how precious and fragile life is and maybe, if you are lucky, you will get through it. In this very moment you already know you are never going to be the same.
I watched my baby suffer through the unimaginable, having doctors and nurses poke and prod at his tiny veins as if he were a sewing piece. I was a wreck, but I had to stay strong since I was all he had. The first line of treatment failed, and more than that, almost killed him. Natan’s blood pressure spiked to a point where he had to be moved to the intensive care unit. Over the next several months he was given countless trials of various pharmaceutical cocktails, but none of them could stop the seizures. He was continuously screaming, going through 40-minute clusters of epileptic activity up to 15 times a day, that’s thousands of seizures daily. His development reversed to where he lost milestones, could not sit, did not respond to the sound of my voice, and did not smile or move his body. His big blue eyes, so tired and restless, wandered around unfocused, sometimes briefly scanning my face as if begging for help.
Months of tedious lab tests, hospital admissions and searching for specialists who could possibly shed any light on his condition, led me to nothing but an accumulation of medical bills I was afraid to look at. Finally, sometime in June we received the eagerly anticipated call from his geneticist asking to arrange for a visit to discuss Natan’s genetic test results. It took six months waiting for these tests to be analyzed and I thought finally we will have an answer. The test came back positive for a random sodium channel mutation that caused a chemical imbalance in his brain leading to a seizure disorder and developmental disability. I was told he is the second person in the history of medicine to ever be identified with this mutation. The case previously described in the medical literature had a tragic end, only confirming the worst; there was no effective cure for his disease, at least not yet.
I remember walking out of the doctor’s office through the narrow basement hallway of Mount Sinai hospital with tears pouring down my face, pushing Natan’s stroller and hoping the hallway would never end. My mind was paralyzed; the thought of facing daylight was overwhelming. I stood at the end of the corridor blindly staring at the floor, wishing for the world to stop turning and to let me forget that this was really happening…. Suddenly, I heard the ding sound, the elevator doors opened, I got in and I had to face the world again. There must be a reason, why the geneticist’s office is in the basement…
The situation was catastrophic; by that point my vast experience with the medical community was enough for me, to realize its limits. Natan’s antiepileptic medications were narrowed down to only one a drug we thought was somewhat contributing to reduction in seizure frequency, but not completely eradicating them. Unfortunately, its side effects are rare but quite risky; because it may cause vision lose. I figured I had to do everything in my power to find a better solution. My first goal was to at least get him to smile. I began researching different options of treating epilepsy using nutrition and supplements. I joined several online groups where people successfully treated seizures by following specific diets. I combined their experience they so genuinely shared with my newly gained knowledge and I put together a nutritional regimen. After two months of applying my experimental plan and diligently recording every detail of his meals, activities and behavior I began to see improvements. Natan started getting better and eventually, after fine-tuning the diet to his specific needs, his seizures disappeared completely. I was ecstatic.
His second birthday, a memorable day among monkey balloons from grandma, a chocolate cake with two candles and abundance of pure joy to see my boy smile, marked two months of being seizure free.
Natan is a happy boy, whose eyes sparkle with promise and whose laugher tickles my heart. His strong will and undeniable personality surface with each gesture he fights to get across to the outside world. He never ceases to amaze me. I believe everyday can bring a revelation and every little step forward counts.
During the first two years of his life he has overcome more than many of us do in a lifetime. Unfortunately, up to now, his disease has robbed him of a fair chance to have a normal childhood. Small but significant experiences, people so often take for granted, like seeing your child, take a first step or say his first word...to mention few, are still not part of his development. In addition to the seizure disorder, his genetic mutation causes developmental disabilities. He struggles with coordination, muscle strength, and visual tracking, making it difficult for him to gain new skills. He only receives three hours of therapy a week through Early Intervention, which is too minimal to produce positive results for a child so severely delayed. My countless disputes with numerous, seemingly helpful institutions whose application processes take up to six months or more are still in “process” and seemingly leading nowhere.
I can’t change the system insurance companies and other agencies run by, but I can change the way your heart works. Maybe after you read our story, something inside of you will click and you will not only appreciate all the simple things in life but pay attention to those who never had a chance to experience them.
I can’t bear to spend another day, another minute or second, aimlessly waiting and doing nothing, watching my son lose each precious moment, while not getting the help he needs. I want to see him run, talk and play, like all the other children we now watch while standing on a sidewalk by the playground. I wonder what he is thinking? His face lightens and his lips unfold into a smile pushing his bottom jaw forward showing his pearly whites, as if he was trying to charm all the kids who run around, telling them “come and teach me to do that, don’t you see I am the cutest fella on the block”. They look at him with curiosity, not sure what to do - sometimes gently touching him, sometimes just staring or, for the more creative types, they utilize their own charisma thinking it will convince him to get up and go.
The other day a little girl approached us, after looking at him for a while and trying to coax him out of his stroller, not quite understanding why he can’t, she decided that the only resolution to this challenge was to give him a smooch… The cutes thing I have seen, she melted my heart, a moment to live for.
My hard-won wisdom, tells me we need help, which is not something I ask for often. My goal is to raise money for Natan to go to a private clinic where kids with similar disabilities receive appropriate physical therapy, to hire therapists who can spend more than 20 minutes to work with him and provide additional medical necessities I cannot fund on my own… I have spoken to mothers who had kids in a similar predicament and succeeded by getting help from good-hearted people. They are my guides, providing much needed inspiration.
Natan and I cannot afford to lose this window of opportunity, which only gets smaller with time. I promise to make your contributions count. I will make it a weapon to fight this battle with him, so he can take his best shot at realizing his full potential, living a healthy and fulfilling life.
Please help Natan take his first step by taking that step with him. Thank you.
After the routine examination at the hospital Natan was pronounced healthy. The nurse said “your boy is 10 out of 10” perfectly healthy. In my wildest dreams I would have never imagined how misleading these two words “perfectly healthy” were.
November 20, 2013, Natan is 7 months; it is my third visit to the Staten Island Hospital ER after inconsolable screaming outbursts lasting over 3 hours. I am repeatedly being told he is fine, but something inside tells me they are wrong. Suddenly, I see my son’s body clutching in very rhythmic jerky movements, I panic and call the attending pediatrician. She explains, it is nothing serious just a muscle reflex and I should take him home. I am on the edge of losing my patience - obviously the doctor has no idea what she is talking about. I confront her and explain he is having a seizure. She automatically becomes defensive and threatens to call her supervisor if I won’t leave. I refuse and ask for hospital admission and appropriate testing. She continues to deny me help. I calmly inform her that I will be more than pleased to speak with her superior and unless someone physically removes me from this hospital I am not going anywhere until I see a neurologist. She leaves the room, flushed and angry, comes back after few minutes and approves my son’s admission. The next day based on an EEG scan the neurologist diagnoses Natan with a form of epilepsy called infantile spasms.
This is where it all began, the onset of the disabling fear of losing someone I love so much and the shock of being so helpless. There is nothing worse in life than to see your child suffer, it crushes you. In a matter of minutes you start to realize how precious and fragile life is and maybe, if you are lucky, you will get through it. In this very moment you already know you are never going to be the same.
I watched my baby suffer through the unimaginable, having doctors and nurses poke and prod at his tiny veins as if he were a sewing piece. I was a wreck, but I had to stay strong since I was all he had. The first line of treatment failed, and more than that, almost killed him. Natan’s blood pressure spiked to a point where he had to be moved to the intensive care unit. Over the next several months he was given countless trials of various pharmaceutical cocktails, but none of them could stop the seizures. He was continuously screaming, going through 40-minute clusters of epileptic activity up to 15 times a day, that’s thousands of seizures daily. His development reversed to where he lost milestones, could not sit, did not respond to the sound of my voice, and did not smile or move his body. His big blue eyes, so tired and restless, wandered around unfocused, sometimes briefly scanning my face as if begging for help.
Months of tedious lab tests, hospital admissions and searching for specialists who could possibly shed any light on his condition, led me to nothing but an accumulation of medical bills I was afraid to look at. Finally, sometime in June we received the eagerly anticipated call from his geneticist asking to arrange for a visit to discuss Natan’s genetic test results. It took six months waiting for these tests to be analyzed and I thought finally we will have an answer. The test came back positive for a random sodium channel mutation that caused a chemical imbalance in his brain leading to a seizure disorder and developmental disability. I was told he is the second person in the history of medicine to ever be identified with this mutation. The case previously described in the medical literature had a tragic end, only confirming the worst; there was no effective cure for his disease, at least not yet.
I remember walking out of the doctor’s office through the narrow basement hallway of Mount Sinai hospital with tears pouring down my face, pushing Natan’s stroller and hoping the hallway would never end. My mind was paralyzed; the thought of facing daylight was overwhelming. I stood at the end of the corridor blindly staring at the floor, wishing for the world to stop turning and to let me forget that this was really happening…. Suddenly, I heard the ding sound, the elevator doors opened, I got in and I had to face the world again. There must be a reason, why the geneticist’s office is in the basement…
The situation was catastrophic; by that point my vast experience with the medical community was enough for me, to realize its limits. Natan’s antiepileptic medications were narrowed down to only one a drug we thought was somewhat contributing to reduction in seizure frequency, but not completely eradicating them. Unfortunately, its side effects are rare but quite risky; because it may cause vision lose. I figured I had to do everything in my power to find a better solution. My first goal was to at least get him to smile. I began researching different options of treating epilepsy using nutrition and supplements. I joined several online groups where people successfully treated seizures by following specific diets. I combined their experience they so genuinely shared with my newly gained knowledge and I put together a nutritional regimen. After two months of applying my experimental plan and diligently recording every detail of his meals, activities and behavior I began to see improvements. Natan started getting better and eventually, after fine-tuning the diet to his specific needs, his seizures disappeared completely. I was ecstatic.
His second birthday, a memorable day among monkey balloons from grandma, a chocolate cake with two candles and abundance of pure joy to see my boy smile, marked two months of being seizure free.
Natan is a happy boy, whose eyes sparkle with promise and whose laugher tickles my heart. His strong will and undeniable personality surface with each gesture he fights to get across to the outside world. He never ceases to amaze me. I believe everyday can bring a revelation and every little step forward counts.
During the first two years of his life he has overcome more than many of us do in a lifetime. Unfortunately, up to now, his disease has robbed him of a fair chance to have a normal childhood. Small but significant experiences, people so often take for granted, like seeing your child, take a first step or say his first word...to mention few, are still not part of his development. In addition to the seizure disorder, his genetic mutation causes developmental disabilities. He struggles with coordination, muscle strength, and visual tracking, making it difficult for him to gain new skills. He only receives three hours of therapy a week through Early Intervention, which is too minimal to produce positive results for a child so severely delayed. My countless disputes with numerous, seemingly helpful institutions whose application processes take up to six months or more are still in “process” and seemingly leading nowhere.
I can’t change the system insurance companies and other agencies run by, but I can change the way your heart works. Maybe after you read our story, something inside of you will click and you will not only appreciate all the simple things in life but pay attention to those who never had a chance to experience them.
I can’t bear to spend another day, another minute or second, aimlessly waiting and doing nothing, watching my son lose each precious moment, while not getting the help he needs. I want to see him run, talk and play, like all the other children we now watch while standing on a sidewalk by the playground. I wonder what he is thinking? His face lightens and his lips unfold into a smile pushing his bottom jaw forward showing his pearly whites, as if he was trying to charm all the kids who run around, telling them “come and teach me to do that, don’t you see I am the cutest fella on the block”. They look at him with curiosity, not sure what to do - sometimes gently touching him, sometimes just staring or, for the more creative types, they utilize their own charisma thinking it will convince him to get up and go.
The other day a little girl approached us, after looking at him for a while and trying to coax him out of his stroller, not quite understanding why he can’t, she decided that the only resolution to this challenge was to give him a smooch… The cutes thing I have seen, she melted my heart, a moment to live for.
My hard-won wisdom, tells me we need help, which is not something I ask for often. My goal is to raise money for Natan to go to a private clinic where kids with similar disabilities receive appropriate physical therapy, to hire therapists who can spend more than 20 minutes to work with him and provide additional medical necessities I cannot fund on my own… I have spoken to mothers who had kids in a similar predicament and succeeded by getting help from good-hearted people. They are my guides, providing much needed inspiration.
Natan and I cannot afford to lose this window of opportunity, which only gets smaller with time. I promise to make your contributions count. I will make it a weapon to fight this battle with him, so he can take his best shot at realizing his full potential, living a healthy and fulfilling life.
Please help Natan take his first step by taking that step with him. Thank you.
Organizer
Marta Skorupska
Organizer
Staten Island, NY