MEET TONY aka SUPERMAN
ARTICLES 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
ONE MOMS MISSION TO FIND CURE FOR SON'S RARE DISEASE: | *CBS News / National
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
This is Tony, aka Superman. He is an adorable little boy born in 2008 along with his equally adorable twin brother. His rare 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 the 11th child in the world diagnosed with a rare mutation on his ADNP gene.
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 his first open heart surgery, just the start 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 developed a sleeping disorder and began waking multiple times per night, similar to a newborn. 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.
For 6 years he spent his days seeing doctors, developmental therapists, geneticists, cardiologists, neurologists, endocrinologists, allergists, gastroenterologist, urologists and other specialists. They all agreed that the cause of Tony's complex 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. 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 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. They were wrong!
We realized then that his doctors 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 happiness. Feeding was just about the only time that Tony 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, loved to listen to them play, 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 article published on his journey.
Fast forward to today, Tony has had all of his surgeries, most were 100% successful but his last open heart surgery he did suffer 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 episodes of global defused cerebral atrophy and his condition in now labeled as a degenerative brain disease by his doctors 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 is still in diapers and can't be left alone, and needs 24/7 care, 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 his receptive skills have really improved to most. He is obsessed with watching Mickey Mouse Clubhouse and football games on TV 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 brave, strong, unique and he has a greater purpose in this life to help others. He is helping pave the way of ADNP Syndrome research. He has participated in many studies including donated his stem cells, blood, skin cells, 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 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 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 connected families all around the world, created support and a global community. We have a drug trial in the pipeline and several clinical studies. 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!