MEET TONY aka SUPERMAN
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
2020 UPDATE: Well, we all knew Tony was Superman, but this year he made that clear as day. Tony almost died and recovered so well that it amazed everyone. He just can't seem to catch a break, but he sure if fighting hard and he is our hero!
Read about his journey “From a Fever to Life Support in 9-Days” here.
NEWS AND ARTICLES PUBLISHED ON TONY and his JOURNEY.
ONE MOMS MISSION TO FIND CURE FOR SON'S RARE DISEASE: | *CBS News / National
SEAHAWKS PLAYER HONORS WASHINGTON BOY WITH RARE DISORDER - ADNP SYNDROME | *KGW News Portland
THE FIGHT FOR TONY: A MOTHER’S QUEST TO UNRAVEL A MYSTERY AND PUSH AUTISM RESEARCH FORWARD. | *SPARK for Autism / Simons Foundation
WHY MY SON WITH ADNP SYNDROME IS JUST LIKE SUPERMAN | * The Mighty.com
A MOTHER'S QUEST TO UNRAVEL A MYSTERY AND PUSH RESEARCH FORWARD - A FIGHT FOR TONY | * Interactive Autism Network at Kennedy Krieger Institute
THE COMPASSIONATE SIDE OF NEUROSCIENCE: TONY SERMONE'S UNDIAGNOSED GENETIC JOURNEY | *Journal of Molecular Neuroscience
MOTHER CRUSADES CURE FOR 10 YEAR OLD SONS RARE CONDITION | DailyMailMedUK