Meet Tony
Written By:
Sandra Bedrosian Sermone
Sandra Bedrosian Sermone
Tell us about your journey to an ADNP diagnosis:
This is Tony, aka Superman.
His genetic odyssey began when he was just one week old, and in May of 2014 after SIX long years of searching for a diagnosis, he was the 1st child in the US and 11th in the world formally diagnosed with ADNP Syndrome.
His life started out perfect! He was born a seemingly healthy perfect baby boy, along with his equally perfect twin brother Rocco. We where filled with joy and excitement that lasted all of about 24 hours, then things started going very wrong.
Our first blow was to the heart, literally. Within hours, we were told that Tony had problems with his heart. The next blow came while I waited in a hospital room with my perfect little newborn after having an ECHO and a team of doctors came in and explained what they had found. In addition to numerous holes in his heart, his hearts aortic arch actually went the wrong way and was wrapped around his esophagus requiring heart surgery. But it didn't end there, in addition to a cardiologist, heart surgeon, and pediatrician, a geneticist was also now standing in front of me with the heartbreaking news that my son most likely had a very rare genetic syndrome and that testing needed to be done immediately. It turned out that he did not have the suspected condition, and this began six very long years of genetic testing before he was finally diagnosed with ADNP, and his genetics doctors said he would most likely pass away at a young age.
Everything a parent dreams about when having a baby was annihilated, and our new dream was that our baby would live. Tony developed neurological issues, brain scans showed numerous brain abnormalities and he spent a large chunk of the first few years of his life in and out of the hospital with a never ending list of surgeries, emergencies, severe medical complications, procedures and diagnostic testing. At just 3-months old he underwent his first of 2 open heart surgeries, just the start of MANY surgeries that he experienced as a young child.
Although he looked perfect on the outside, on the inside he had numerous brain abnormalities, heart defects, a complicated neurological vision impairment called CVI, and severe global developmental and motor planning delays. He developed a sleeping disorder and began waking multiple times per night, similar to a newborn. Tony had to have a G-tube because he could not chew or swallow and we discovered he was aspirating fluid into his lungs. He had severe GERD and could not regulate his body temperature. He could not walk, could not talk, could not eat and he was growing further and further behind his twin brother developmentally with each passing month. He developed seizures and had a string of mini strokes. He had medical issues from head to toe!
However, through it all, Tony is always brave, strong and courageous, a real life “Superman”. His constant happy disposition (similar to Angelman Syndrome) and high pain tolerance is his saving grace and he charms his doctors, nurses and therapists with his gigantic adorable smile.
Despite seeing doctors, developmental therapists, geneticists, cardiologists, neurologists, endocrinologists, allergists, gastroenterologist, urologists and other specialists, Tony was a complete puzzle that no one could not figure out. His constellation of medical problems did not match up to his happy demeanor and other unique features. Just when his doctors thought they had a diagnosis idea, testing would come back negative. Everyone agreed that the cause of Tony's complex medical problems had to be genetic but for 6 years they did every test under the sun, MRI's of the brain, chest, orbitals, CT scans, Echo's, EKG's, EEG's, ultrasounds, barium swallow studies, laryngeal and renal scopes and hundreds of tests, labs and skin biopsies. Still, NO diagnosis and no answers!!!
Tony started to have significant regression and it was discovered that he had an episode of mild cerebral atrophy (brain degeneration) and his doctors lost hope of ever diagnosing him and seemed to give up looking for answers. At that time, we were unsure if he would live or die or if his twin brother was affected. We were told that we would never find out what was wrong with Tony, that it was unique to him and that he most likely would not live a long life.
Giving up on our son was not an option so we went out on our own to find answers and a way to help him. After a lot of research and hard work, we were able to get him into a study across the country at Duke University, where in a matter of months using whole exome sequencing, it was discovered that he had a mutation in his ADNP gene.
At that time, his entire medical team from the west coast to the east coast had never heard of ADNP. He was the very first child diagnosed in the US, 11th in the world. There was no information, the syndrome had no name, there were no doctors that he could be referred to, no specialty center, no support group, no website or place to find any information, and worst of all - there was no treatment and no cure.
No was not an option, and that is when our world shifted from diagnosing our child, to curing him and other children like him, so I founded ADNPkids, followed by the ADNP International Family Support Group and the ADNP Kids Research Foundation, to find treatments and cure for all individuals living with ADNP syndrome..
Fast forward to today. Each day that passes gets harder and harder, and we are racing to stop this disease, Tony is one of the most medically complex children and is now classified as degenerative, meaning he has had several episodes of brain atrophy. As he has grown older, some things have become better, while many others have become worse. His once constant smile has disappeared and he is trapped in a body that is failing him. and silenced by a brain that takes away his voice, his childhood and his potential. His immune system is his worst enemy at the moment causing severe illness and life changing medical protocols. We are fighting to keep him safe and healthy, while dealing with a system that has kicked him to the curb. His doctors have ordered that he not go into a public building/school because of his incredible high risk of infection, but his school is making us choose to either send him to school and risk his life, or give him no services because they refuse to provide any services in our home. He has had complication after complication with every recent surgery or hospitalization that has led to more long term problems. As he has gotten older in age, with no school services, so he has not advanced cognitively as he should despite the therapies that we private pay for him in our home. He is still essentially non-verbal, has profound cognitive and developmental delays and severe level 3 autism.. He is much like an early toddler, is in diapers and needs assistance eating, dressing, bathing, etc. He doesn’t understand danger and can't be left alone, requiring 24/7 care. For all of these reasons, we are trying our hardest to find treatments to give him a better quality of life and one day a cure.
Despite Tony's struggles, he is still very affectionate and loving at times. He surprises us all the time with windows of his true intelligence and his sense of humor. He works hard at home with our team of therapists and as he has become older his receptive skills have really improved the most. He LOVES sensory input, so some of his favorite things are chewing on things, playing in water, watching videos on his iPad and movement activities like swinging and jumping. He adores music, and has recently discovered YouTube videos. He is obsessed with watching shows that have music and his current favorite is the Lady Gaga Superbowl Halftime show, which we have watched thousands of times. But his favorite thing in the entire world is riding the Dumbo Ride and Thunder Mountain at Disneyland, his happiest place on earth. He is a beautiful, loving little boy who I believe has extreme potential.
To us, Tony is Superman. He is brave, strong, unique and he has a greater purpose in this life to help others. As one of the first children diagnosed in the world, he has helping pave the way for ADNP Syndrome research. He has participated in many clinical studies, donated his stem cells, blood/plasma, skin cells, baby teeth, hair, brain scans and medical records- all to help researchers understand ADNP Syndrome and genetic Autism. He is the driving force that motivated me to create and build the the ADNP community when nothing existed. (ADNP International Facebook Parent Support Page, ADNPkids.com and the ADNP Kids Research Foundation). He has no idea just how many children he is helping or how strong he is.
He is a “superhero”, he is our little Superman!
What has Tony taught us?
HOPE, DETERMINATION & DOING THE IMPOSSIBLE!
BE KIND - BE STRONG
This is Tony, aka Superman.
His genetic odyssey began when he was just one week old, and in May of 2014 after SIX long years of searching for a diagnosis, he was the 1st child in the US and 11th in the world formally diagnosed with ADNP Syndrome.
His life started out perfect! He was born a seemingly healthy perfect baby boy, along with his equally perfect twin brother Rocco. We where filled with joy and excitement that lasted all of about 24 hours, then things started going very wrong.
Our first blow was to the heart, literally. Within hours, we were told that Tony had problems with his heart. The next blow came while I waited in a hospital room with my perfect little newborn after having an ECHO and a team of doctors came in and explained what they had found. In addition to numerous holes in his heart, his hearts aortic arch actually went the wrong way and was wrapped around his esophagus requiring heart surgery. But it didn't end there, in addition to a cardiologist, heart surgeon, and pediatrician, a geneticist was also now standing in front of me with the heartbreaking news that my son most likely had a very rare genetic syndrome and that testing needed to be done immediately. It turned out that he did not have the suspected condition, and this began six very long years of genetic testing before he was finally diagnosed with ADNP, and his genetics doctors said he would most likely pass away at a young age.
Everything a parent dreams about when having a baby was annihilated, and our new dream was that our baby would live. Tony developed neurological issues, brain scans showed numerous brain abnormalities and he spent a large chunk of the first few years of his life in and out of the hospital with a never ending list of surgeries, emergencies, severe medical complications, procedures and diagnostic testing. At just 3-months old he underwent his first of 2 open heart surgeries, just the start of MANY surgeries that he experienced as a young child.
Although he looked perfect on the outside, on the inside he had numerous brain abnormalities, heart defects, a complicated neurological vision impairment called CVI, and severe global developmental and motor planning delays. He developed a sleeping disorder and began waking multiple times per night, similar to a newborn. Tony had to have a G-tube because he could not chew or swallow and we discovered he was aspirating fluid into his lungs. He had severe GERD and could not regulate his body temperature. He could not walk, could not talk, could not eat and he was growing further and further behind his twin brother developmentally with each passing month. He developed seizures and had a string of mini strokes. He had medical issues from head to toe!
However, through it all, Tony is always brave, strong and courageous, a real life “Superman”. His constant happy disposition (similar to Angelman Syndrome) and high pain tolerance is his saving grace and he charms his doctors, nurses and therapists with his gigantic adorable smile.
Despite seeing doctors, developmental therapists, geneticists, cardiologists, neurologists, endocrinologists, allergists, gastroenterologist, urologists and other specialists, Tony was a complete puzzle that no one could not figure out. His constellation of medical problems did not match up to his happy demeanor and other unique features. Just when his doctors thought they had a diagnosis idea, testing would come back negative. Everyone agreed that the cause of Tony's complex medical problems had to be genetic but for 6 years they did every test under the sun, MRI's of the brain, chest, orbitals, CT scans, Echo's, EKG's, EEG's, ultrasounds, barium swallow studies, laryngeal and renal scopes and hundreds of tests, labs and skin biopsies. Still, NO diagnosis and no answers!!!
Tony started to have significant regression and it was discovered that he had an episode of mild cerebral atrophy (brain degeneration) and his doctors lost hope of ever diagnosing him and seemed to give up looking for answers. At that time, we were unsure if he would live or die or if his twin brother was affected. We were told that we would never find out what was wrong with Tony, that it was unique to him and that he most likely would not live a long life.
Giving up on our son was not an option so we went out on our own to find answers and a way to help him. After a lot of research and hard work, we were able to get him into a study across the country at Duke University, where in a matter of months using whole exome sequencing, it was discovered that he had a mutation in his ADNP gene.
At that time, his entire medical team from the west coast to the east coast had never heard of ADNP. He was the very first child diagnosed in the US, 11th in the world. There was no information, the syndrome had no name, there were no doctors that he could be referred to, no specialty center, no support group, no website or place to find any information, and worst of all - there was no treatment and no cure.
No was not an option, and that is when our world shifted from diagnosing our child, to curing him and other children like him, so I founded ADNPkids, followed by the ADNP International Family Support Group and the ADNP Kids Research Foundation, to find treatments and cure for all individuals living with ADNP syndrome..
Fast forward to today. Each day that passes gets harder and harder, and we are racing to stop this disease, Tony is one of the most medically complex children and is now classified as degenerative, meaning he has had several episodes of brain atrophy. As he has grown older, some things have become better, while many others have become worse. His once constant smile has disappeared and he is trapped in a body that is failing him. and silenced by a brain that takes away his voice, his childhood and his potential. His immune system is his worst enemy at the moment causing severe illness and life changing medical protocols. We are fighting to keep him safe and healthy, while dealing with a system that has kicked him to the curb. His doctors have ordered that he not go into a public building/school because of his incredible high risk of infection, but his school is making us choose to either send him to school and risk his life, or give him no services because they refuse to provide any services in our home. He has had complication after complication with every recent surgery or hospitalization that has led to more long term problems. As he has gotten older in age, with no school services, so he has not advanced cognitively as he should despite the therapies that we private pay for him in our home. He is still essentially non-verbal, has profound cognitive and developmental delays and severe level 3 autism.. He is much like an early toddler, is in diapers and needs assistance eating, dressing, bathing, etc. He doesn’t understand danger and can't be left alone, requiring 24/7 care. For all of these reasons, we are trying our hardest to find treatments to give him a better quality of life and one day a cure.
Despite Tony's struggles, he is still very affectionate and loving at times. He surprises us all the time with windows of his true intelligence and his sense of humor. He works hard at home with our team of therapists and as he has become older his receptive skills have really improved the most. He LOVES sensory input, so some of his favorite things are chewing on things, playing in water, watching videos on his iPad and movement activities like swinging and jumping. He adores music, and has recently discovered YouTube videos. He is obsessed with watching shows that have music and his current favorite is the Lady Gaga Superbowl Halftime show, which we have watched thousands of times. But his favorite thing in the entire world is riding the Dumbo Ride and Thunder Mountain at Disneyland, his happiest place on earth. He is a beautiful, loving little boy who I believe has extreme potential.
To us, Tony is Superman. He is brave, strong, unique and he has a greater purpose in this life to help others. As one of the first children diagnosed in the world, he has helping pave the way for ADNP Syndrome research. He has participated in many clinical studies, donated his stem cells, blood/plasma, skin cells, baby teeth, hair, brain scans and medical records- all to help researchers understand ADNP Syndrome and genetic Autism. He is the driving force that motivated me to create and build the the ADNP community when nothing existed. (ADNP International Facebook Parent Support Page, ADNPkids.com and the ADNP Kids Research Foundation). He has no idea just how many children he is helping or how strong he is.
He is a “superhero”, he is our little Superman!
What has Tony taught us?
HOPE, DETERMINATION & DOING THE IMPOSSIBLE!
BE KIND - BE STRONG
Tell us about your journey to an ADNP diagnosis:
Meet Tony, also known affectionately as Superman.
Tony's journey began when he was merely a week old. By May of 2014, after a grueling six-year quest for answers, he became the first child in the United States and the eleventh globally to be formally diagnosed with ADNP Syndrome.
Initially, Tony's life seemed perfect. He and his twin brother, Rocco, were born seemingly healthy and filled our hearts with joy and anticipation. However, within the first 24 hours, our joy turned to concern as complications emerged.
Our first shock came in the form of a heart condition. Shortly after, we received the heartbreaking news from a team of doctors: Tony had a rare heart defect, necessitating immediate surgery, and numerous other defects, requiring many more surgeries. Additionally, a geneticist delivered the devastating news that Tony most likely had a rare genetic defect, setting off six years of exhaustive testing before the ADNP diagnosis was confirmed. The prognosis was bleak, with doctors predicting a shortened lifespan.
Our dreams as parents were shattered, replaced by a single hope: for Tony to survive. He faced a myriad of challenges—neurological issues, brain abnormalities, countless surgeries, and severe intellectual and developmental delays. Despite his outward appearance, Tony's internal struggles were profound, encompassing a range of medical complexities.
Throughout it all, Tony displayed remarkable courage, resilience, strength and a infection smile, earning him the nickname of "Superman."
Despite exhaustive testing, Tony remained a medical enigma. His complex symptoms defied easy diagnosis, leading to significant regression and uncertainty about his future. At age five, his doctors gave up hope of finding a genetic diagnosis. Refusing to accept defeat, we set out on a personal quest for answers, eventually leading us to Duke University, where a groundbreaking genetic study revealed Tony's mutation in the ADNP gene.
Tony's diagnosis marked a milestone, but it also led us into uncharted territory. With no treatment or cure available, we founded ADNPkids, the ADNP International Family Support Group, and the ADNP Kids Research Foundation to advocate for research and support for individuals with ADNP Syndrome.
Today, Tony faces ongoing medical challenges, classified as degenerative with episodes of brain atrophy. Despite his struggles, he retains moments of affection and humor, captivating us with glimpses of his true intelligence.
To us, Tony embodies hope, determination, and the capacity to defy the odds. He continues to inspire us with his resilience and unwavering spirit, reminding us to be kind and strong in the face of adversity.
Tony may not realize the extent of his impact, but to us, he is a superhero—a beacon of strength and resilience in the face of adversity. Through him, we've learned the power of hope, determination, and the ability to achieve the impossible.
Meet Tony, also known affectionately as Superman.
Tony's journey began when he was merely a week old. By May of 2014, after a grueling six-year quest for answers, he became the first child in the United States and the eleventh globally to be formally diagnosed with ADNP Syndrome.
Initially, Tony's life seemed perfect. He and his twin brother, Rocco, were born seemingly healthy and filled our hearts with joy and anticipation. However, within the first 24 hours, our joy turned to concern as complications emerged.
Our first shock came in the form of a heart condition. Shortly after, we received the heartbreaking news from a team of doctors: Tony had a rare heart defect, necessitating immediate surgery, and numerous other defects, requiring many more surgeries. Additionally, a geneticist delivered the devastating news that Tony most likely had a rare genetic defect, setting off six years of exhaustive testing before the ADNP diagnosis was confirmed. The prognosis was bleak, with doctors predicting a shortened lifespan.
Our dreams as parents were shattered, replaced by a single hope: for Tony to survive. He faced a myriad of challenges—neurological issues, brain abnormalities, countless surgeries, and severe intellectual and developmental delays. Despite his outward appearance, Tony's internal struggles were profound, encompassing a range of medical complexities.
Throughout it all, Tony displayed remarkable courage, resilience, strength and a infection smile, earning him the nickname of "Superman."
Despite exhaustive testing, Tony remained a medical enigma. His complex symptoms defied easy diagnosis, leading to significant regression and uncertainty about his future. At age five, his doctors gave up hope of finding a genetic diagnosis. Refusing to accept defeat, we set out on a personal quest for answers, eventually leading us to Duke University, where a groundbreaking genetic study revealed Tony's mutation in the ADNP gene.
Tony's diagnosis marked a milestone, but it also led us into uncharted territory. With no treatment or cure available, we founded ADNPkids, the ADNP International Family Support Group, and the ADNP Kids Research Foundation to advocate for research and support for individuals with ADNP Syndrome.
Today, Tony faces ongoing medical challenges, classified as degenerative with episodes of brain atrophy. Despite his struggles, he retains moments of affection and humor, captivating us with glimpses of his true intelligence.
To us, Tony embodies hope, determination, and the capacity to defy the odds. He continues to inspire us with his resilience and unwavering spirit, reminding us to be kind and strong in the face of adversity.
Tony may not realize the extent of his impact, but to us, he is a superhero—a beacon of strength and resilience in the face of adversity. Through him, we've learned the power of hope, determination, and the ability to achieve the impossible.
