MEET TONY aka SUPERMAN
Written by Tony's Mom
STORIES PUBLISHED ON TONY:
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
Tony is an adorable little boy born in 2008 along with his equally adorable twin brother. He was one of the first children diagnosed in the world with an ADNP mutation in June 2014, just a few months after the ADNP syndrome was discovered, but that was after six long years of searching for answers.
Tony spent 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 three months old he underwent open heart surgery, just the first of many surgeries that he had as a young child. Tony had to have a G-tube for nutrition because he had difficulties feeding which included aspiration and severe reflux. It was discovered that he had many brain abnormalities, several heart defects, a complicated neurological vision impairment called CVI and severe global developmental delays. He was a good sleeper, but as he became a toddler he began waking up multiple times per night and would wake extremely early which didn't help his brain development. He also didn't like to eat and would often appear as if he was never hungry. Tony could not walk, could not talk, could not chew or swallow and was growing further and further behind his twin brother developmentally with each passing month.
Tony underwent 6 years of genetic testing for many different syndromes. He spent almost every single day as an infant seeing doctors, developmental therapists, geneticists, cardiologists, neurologists, endocrinologists, allergists, gastroenterologist, urologists and other specialists. They all agreed that the cause of Tony's medical problems were genetic, but they were unable to diagnose him. 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 answers!!! Tony started to have significant regression and it was discovered that he had an episode of mild cerebral atrophy and at that point his doctors seemed to give up looking for answers. 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 our son and that it was unique to him (they called it the Tony Syndrome) and they assured us that a diagnosis would not change anything. Boy where they wrong!
We realized then that no one local would look outside of the box and that they where content to label him as an "Undiagnosed Genetic Syndrome Child". This was not acceptable to us and we wanted answers, so we went out on our own in search of clinical trials and research studies. We were able to get Tony accepted into an Undiagnosed Genetic Syndrome study at Duke University, where in a matter of months using Whole Exome Sequencing and a LDT from GeneDX, he was diagnosed with a mutation in his ADNP gene.
As a baby, Tony was a very happy and cuddly little boy. He smiled and laughed most of the time. He had the cutest laugh as a baby, almost like an old sole bellowing over with a deep laugh. Feeding was just about the only time he would cry. Even with daily doctors’ visits, tests, labs, scans, etc., Tony was always a very good baby. He seemed to love all of the adults that he would meet and charmed them all with his smile and cuddles. However, strangely enough, Tony didn't seem to have any interest in other children, including his twin brother. He was happy to be next to him, but he never interacted with him directly until he was around 5 years old.
As Tony grew older, we immediately could see that he was not developing or hitting milestones. His twin brother was walking and talking and Tony was still unable to even crawl. The first three years were very hard and we received a new medical diagnosis or discovered a new "issue" at almost every doctor visit. He has so many medical conditions and diagnosis' that we made him a list called "Tony's Laundry List”. You can read them all in the Journal of Molecular Neuroscience story posted below.
Fast forward to today, Tony has had all of his surgeries, most were 100% successful but his last open heart surgery it is suspected that he did suffer from minor strokes from being on bypass for such a prolonged period of time. He has recently started to have infrequent seizures and is followed by a team of doctors, medical specialists and developmental therapists. He has had 2 episdoes of cerebral atrophy and his condition in now labeled as a degenerative brain disease but he is fighting his regression every step of the way. He is still essentially non-verbal but has recently started approximating many words. He has severe cognitive delays, developmental delays and CVI. He also rarely sleeps through the night. I joke and say that I have the worlds oldest newborn because he wakes every few hours. He is still in diapers and can't be left alone, much like a small child. For us, our biggest challenge now is Autism and Prader Willi like symptoms of Hyperphagia. Tony is low functioning which makes his daily life very difficult. He still loves to interact with adults and is very affectionate and loving. He has the most silly sense of humor and he is a loving boy. As he has become older he has developed a lot of difficult behaviors that we think are due to frustration, but since he can't communicate, most of the time we are clueless. He has great respective skills and a very funny personality. Tony has the worlds BEST laugh! He is obsessed with watching Mickey Mouse Clubhouse and he LOVES sensory input, so some of his favorite things are playing in water, listening to music, playing on his iPad and movement activities like swinging and jumping. He is a beautiful, loving little boy who I believe has extreme potential.
To us, Tony is Superman. He is so strong and he works very hard every day! He has donated his stem cells, blood, skin, baby teeth, hair, brain scans and medical records all to help researchers understand ADNP Syndrome and genetic Autism. He has been in many clinical trial based studies and is currently participating in a very important publication for ADNP. He is the driving force that motivated me to create and build the ADNP Facebook Parent Support Page, ADNPkids.com and the ADNP Kids Research Foundation. He is the hardest working little boy, he goes to school everyday and then does therapy 6 days a week. I believe he has a higher purpose in this life. He has no idea just how many children he is helping or how strong he is. He is for sure a “superhero”, he is our little Superman!
We were told a diagnosis would not change anything. However, if Tony was never diagnosed, ADNPkids and ADNP-KRF would not exist. We have created support and a global community. We have a drug trial in the pipeline. Things are improving for my son and for all of the children with ADNP, largly because of what occurred after he was FINALLY diagnosed! A DIAGNOSIS DOES MATTER!