OUR STORY - it all began with Tony....
Our story begins with the birth of our twins Rocco and Tony, a joyous occasion for our family. However, within hours of their birth, Tony began to experience a series of medical complications that would plague him for the rest of his life. Initially, it was his heart that caused concern, but soon, he began to experience a host of other problems with his brain, vision, and overall global development.
For the first four years of his life, Tony spent much of his time in and out of hospitals, undergoing numerous surgeries, including two open-heart surgeries. His parents watched as he fell further and further behind developmentally, unable to eat, swallow, walk, or talk like his twin brother. Eventually, he was diagnosed with a range of conditions, including profound intellectual delays, level 3 autism, severe apraxia of speech, non-verbal communication, seizures, strokes, and brain degeneration.
For six long years, we searched for answers, undergoing hundreds of labs, genetic tests, and diagnoses. However, despite our efforts, we were unable to determine what was wrong with our son.
Finally, in May of 2014, Tony was diagnosed with a genetic mutation on a master brain gene called the Activity Dependent Neuroprotective Protein (ADNP). At that time he was the 1st patient ever diagnosed in the US, and was the 11th case known worldwide. This mutation was so rare and unknown that it had only been published in one medical publication at the time. There was no name for the condition, no research or patient organization, no doctors or specialists who understood it, and worst of all, there were no treatments available and no cure.
We were devastated by the diagnosis, feeling helpless, scared, and heartbroken. We grieved for the life we had imagined for our son and our family, and were told that he would likely not live to become an adult, and if he did, he would never talk, never be able to do anything on his own, and would have the brain function of a one-year-old.
Despite the devastating news, we refused to give up hope. I began connecting with other families who had children with ADNP syndrome and researching the condition myself. I quickly realized that there was a significant lack of information and support available for families affected by the condition. In response, I founded the International ADNP Syndrome Parent Support Group and ADNPkids.com to ensure that no other family would feel alone and hopeless after receiving an ADNP diagnosis.
In 2015, I dove headfirst into research, becoming what I called a "crazy obsessed, middle of the night, internet stalking, ADNP mommy detective." I began collaborating with medical researchers around the world, co-publishing scientific papers and sharing my insights and observations with the ADNP community. I identified that children with ADNP syndrome shared many medically complex conditions that were not yet known, and I started developing an informational website to provide families with the information they needed.
In 2016, I founded the ADNP Kids Research Foundation to accelerate and lead the global research efforts needed to find treatments and a cure for ADNP syndrome. The foundation supports a global community of families and a growing team of researchers dedicated to finding treatments and a cure for all children and adults with ADNP syndrome.
Our story begins with the birth of our twins Rocco and Tony, a joyous occasion for our family. However, within hours of their birth, Tony began to experience a series of medical complications that would plague him for the rest of his life. Initially, it was his heart that caused concern, but soon, he began to experience a host of other problems with his brain, vision, and overall global development.
For the first four years of his life, Tony spent much of his time in and out of hospitals, undergoing numerous surgeries, including two open-heart surgeries. His parents watched as he fell further and further behind developmentally, unable to eat, swallow, walk, or talk like his twin brother. Eventually, he was diagnosed with a range of conditions, including profound intellectual delays, level 3 autism, severe apraxia of speech, non-verbal communication, seizures, strokes, and brain degeneration.
For six long years, we searched for answers, undergoing hundreds of labs, genetic tests, and diagnoses. However, despite our efforts, we were unable to determine what was wrong with our son.
Finally, in May of 2014, Tony was diagnosed with a genetic mutation on a master brain gene called the Activity Dependent Neuroprotective Protein (ADNP). At that time he was the 1st patient ever diagnosed in the US, and was the 11th case known worldwide. This mutation was so rare and unknown that it had only been published in one medical publication at the time. There was no name for the condition, no research or patient organization, no doctors or specialists who understood it, and worst of all, there were no treatments available and no cure.
We were devastated by the diagnosis, feeling helpless, scared, and heartbroken. We grieved for the life we had imagined for our son and our family, and were told that he would likely not live to become an adult, and if he did, he would never talk, never be able to do anything on his own, and would have the brain function of a one-year-old.
Despite the devastating news, we refused to give up hope. I began connecting with other families who had children with ADNP syndrome and researching the condition myself. I quickly realized that there was a significant lack of information and support available for families affected by the condition. In response, I founded the International ADNP Syndrome Parent Support Group and ADNPkids.com to ensure that no other family would feel alone and hopeless after receiving an ADNP diagnosis.
In 2015, I dove headfirst into research, becoming what I called a "crazy obsessed, middle of the night, internet stalking, ADNP mommy detective." I began collaborating with medical researchers around the world, co-publishing scientific papers and sharing my insights and observations with the ADNP community. I identified that children with ADNP syndrome shared many medically complex conditions that were not yet known, and I started developing an informational website to provide families with the information they needed.
In 2016, I founded the ADNP Kids Research Foundation to accelerate and lead the global research efforts needed to find treatments and a cure for ADNP syndrome. The foundation supports a global community of families and a growing team of researchers dedicated to finding treatments and a cure for all children and adults with ADNP syndrome.
My message to parents:
I was told that a diagnosis would not change anything. I knew in my heart that was not true. I am just a parent, just like you, with no experience in science or research, yet over the years, I have been able to make significant contributions to ADNP syndrome research, including discovering the first biomarker for the condition and co-authoring several ADNP-specific medical publications. I also worked with another parents of child with ADNP to research and hypothesize one existing drug as a viable treatment for ADNP syndrome, which is currently in an FDA drug trial. As parents, we know in our gut when something is wrong, we remember everything, we see everything, and there is no one more motivated to our children than we are. Non of this would have ever happened without a diagnosis, and now that we have a diagnosis, we are not stopping until we find a cure!
Sandra (Tony's Mom)
CEO/Founder
ADNP Kids Research Foundation
My message to parents:
I was told that a diagnosis would not change anything. I knew in my heart that was not true. I am just a parent, just like you, with no experience in science or research, yet over the years, I have been able to make significant contributions to ADNP syndrome research, including discovering the first biomarker for the condition and co-authoring several ADNP-specific medical publications. I also worked with another parents of child with ADNP to research and hypothesize one existing drug as a viable treatment for ADNP syndrome, which is currently in an FDA drug trial. As parents, we know in our gut when something is wrong, we remember everything, we see everything, and there is no one more motivated to our children than we are. Non of this would have ever happened without a diagnosis, and now that we have a diagnosis, we are not stopping until we find a cure!
Sandra (Tony's Mom)
CEO/Founder
ADNP Kids Research Foundation
Below are photos of Tony from 2008 (birth year) to 2020. It shows the common facial features as well as the medical complexities over his lifespan.
Please consider donating to the ADNP Kids Research Foundation - we can’t do what we do without your support!
