MEET TONY aka SUPERMAN
(Below are links to CBS news, KGW news and other stories and publications on Tony)
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 formally diagnosed with ADNP (HVDAS) just a few months after the discovery of the syndrome was published on 10 other children.
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 3-months old he underwent his first open heart surgery, 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, several 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. But through it all, he is always brave, strong and courageous, a real life Superman. His constant happy disposition (similar to Angelman Syndrome) and high pain tolerance was his saving grace and he loved all adults so he charmed the nurses with every gigantic smile.
Tony spent his days as a toddler seeing doctors, developmental therapists, geneticists, cardiologists, neurologists, endocrinologists, allergists, gastroenterologist, urologists and other specialists. But Tony was a complete puzzle that the could not figure out. They all agreed that the cause of Tony's complex medical problems had to be genetic, but they were unable to diagnose him. 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 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 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 so wrong!
Giving up was not acceptable to us and we wanted answers, so we went out on our own to find them. After months of searching and calls to anyone doing complex neurological and genetic research, we were able to get Tony accepted into an ‘Undiagnosed Genetic Syndrome’ study at Duke University, where in a matter of months, he was diagnosed with a mutation in his ADNP gene. At that time, Duke University had never heard of ADNP, they had never seen another child with this, there was no information, the syndrome had no name, there were no doctors that they could refer us to, no support, no website, no treatment and no cure.
The first three years were very hard and he received a new medical diagnosis’s a new problem would arise at almost every doctor visit. He has so many conditions and diagnosis' that we made him a list called "Tony's Laundry List”. You can read about 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 more episodes of global defused cerebral atrophy and his condition is 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 profound cognitive delays and developmental delays. He is still much like a toddler, in diapers, needs assistance eating, dressing, bathing, etc., doesn’t understand danger and can't be left alone. He needs 24/7 care. 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 sweet little boy. As he has become older his receptive skills have really improved the most. 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. His favorite thing in the world is riding 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. He is helping pave the way of ADNP Syndrome research. Since he was one of the first children in the world diagnosed, he has participated in many studies including ones that donated his stem cells, blood/plasma, 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 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 for sure a “superhero”, he is our little Superman!
To any doctors reading this......
We were told a diagnosis would not change anything. However, if Tony was never diagnosed, ADNPkids and ADNP-KRF would not exist. Because he was diagnosed we have connected families all around the world, created support, awareness and a global community. We have 2 drug trials in the pipeline and several clinical studies. Things are improving for Tony and for ALL of the children with ADNP, largely because of what occurred AFTER he was FINALLY diagnosed! A DIAGNOSIS DOES MATTER!
NEWS AND SOME ARTICLES PUBLISHED ON TONY and his JOURNAL.
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