OUR STORY, it all began with Tony....
In May of 2014, we were given the devastating news that our son Tony was diagnosed with a mutation on a master brain gene called ADNP. Tony was the 1st child diagnosed only months after it was discovered and published. Read about the crazy odds of that happening at How My Son Won the Mega Millions Lottery Jackpot of Rare Genetic Disorders.
At that time, only one single medical publication existed on 10 children in Europe. This condition was so rare and unknown that it had NO name, NO research or patient organization, NO doctors or specialists who understood it, NO place to find support or connect with other families, NO informational websites, NO medical or therapy protocols, NO treatments, and worst of all, NO CURE.
I felt HELPLESS because we were all ALONE. I was SCARED and HEARTBROKEN. We were left to grieve the life we thought our child would have, the life we thought our family would have, and had to come the realization that he would never live a normal life. We were left all alone, unable to connect with anyone or given any information that we could understand to help our son with this INCURABLE DISORDER. Tony lived in and out of the hospital for the first 4 years of his life where he had many surgeries and procedures, 2 included open heart. This is when he earned his nickname "Superman" because he would endure these painful surgeries, was poked with needles daily, and he would do it all with a remarkable smile on his face like he felt no pain, he is truly the 'man of steel'! Tony was severely affected and it took 6 years to find a diagnosis. As a baby, he could not eat or swallow, he could not walk or talk like his twin brother. He fell further and further behind developmentally. By the time he was diagnosed. he had profound intellectual delays, level 3 autism, severe apraxia of speech, seizures and brain degeneration, and the list goes on and on.
We were told that three things by doctors that will stick with me forever.
(1) a diagnosis won't change anything; (2) there would NEVER be a treatment for a this type of brain disorder; and (3) if there was, it would never come in his lifetime.
They were dead wrong! THIS WAS NOT ACCEPTABLE TO ME. I realized that I had to find a way to save my son, and if I couldn't help him, maybe I could help another family not live this hell of watching their child suffer their entire life, so that is what I set out to do and in 5 years, his diagnosis is the reason ADNP Kids Research Foundation exists, we have found a treatment that is showing very promising results clearing our phase 2 FDA drug trial and he is 13 years old, so we did do this in his lifetime!
Parents - don't let grief cloud your mind when doctors don't know what they are talking about! A rare disease parent is the most motivated machine in medicine that exists!
Helpless turned into hopeful (which was a much better feeling).
Alone turned into finding families and hunting down the best scientists in the world to work on ADNP.
Scared turning into relentlessly working to understand ADNP and how it affects our children.
Heartbroken turned into focusing all my energy day and night into accelerating awareness and research for treatments of ADNP as fast as possible.
Incurable turned into a plan to one day cure this disease.
NOT ACCPETABLE TO ME turned me into one part Erin Brockovich (aka parent scientist) and one part Honey Badger (aka relentless 24/7 attach on ADNP).
In May of 2014, we were given the devastating news that our son Tony was diagnosed with a mutation on a master brain gene called ADNP. Tony was the 1st child diagnosed only months after it was discovered and published. Read about the crazy odds of that happening at How My Son Won the Mega Millions Lottery Jackpot of Rare Genetic Disorders.
At that time, only one single medical publication existed on 10 children in Europe. This condition was so rare and unknown that it had NO name, NO research or patient organization, NO doctors or specialists who understood it, NO place to find support or connect with other families, NO informational websites, NO medical or therapy protocols, NO treatments, and worst of all, NO CURE.
I felt HELPLESS because we were all ALONE. I was SCARED and HEARTBROKEN. We were left to grieve the life we thought our child would have, the life we thought our family would have, and had to come the realization that he would never live a normal life. We were left all alone, unable to connect with anyone or given any information that we could understand to help our son with this INCURABLE DISORDER. Tony lived in and out of the hospital for the first 4 years of his life where he had many surgeries and procedures, 2 included open heart. This is when he earned his nickname "Superman" because he would endure these painful surgeries, was poked with needles daily, and he would do it all with a remarkable smile on his face like he felt no pain, he is truly the 'man of steel'! Tony was severely affected and it took 6 years to find a diagnosis. As a baby, he could not eat or swallow, he could not walk or talk like his twin brother. He fell further and further behind developmentally. By the time he was diagnosed. he had profound intellectual delays, level 3 autism, severe apraxia of speech, seizures and brain degeneration, and the list goes on and on.
We were told that three things by doctors that will stick with me forever.
(1) a diagnosis won't change anything; (2) there would NEVER be a treatment for a this type of brain disorder; and (3) if there was, it would never come in his lifetime.
They were dead wrong! THIS WAS NOT ACCEPTABLE TO ME. I realized that I had to find a way to save my son, and if I couldn't help him, maybe I could help another family not live this hell of watching their child suffer their entire life, so that is what I set out to do and in 5 years, his diagnosis is the reason ADNP Kids Research Foundation exists, we have found a treatment that is showing very promising results clearing our phase 2 FDA drug trial and he is 13 years old, so we did do this in his lifetime!
Parents - don't let grief cloud your mind when doctors don't know what they are talking about! A rare disease parent is the most motivated machine in medicine that exists!
Helpless turned into hopeful (which was a much better feeling).
Alone turned into finding families and hunting down the best scientists in the world to work on ADNP.
Scared turning into relentlessly working to understand ADNP and how it affects our children.
Heartbroken turned into focusing all my energy day and night into accelerating awareness and research for treatments of ADNP as fast as possible.
Incurable turned into a plan to one day cure this disease.
NOT ACCPETABLE TO ME turned me into one part Erin Brockovich (aka parent scientist) and one part Honey Badger (aka relentless 24/7 attach on ADNP).
By 2015, I created the International ADNP Syndrome Parent Support Group and ADNPkids.com, so that no family would ever feel alone after receiving an ADNP diagnosis like we did. Instead, they would have a place to connect with other families and find information and support. And those families that I found, they wanted to help, to share information and to find ways to help all of our children. This became something very special, our very own ADNP Tribe..
I dove head first into research and started doing my own studies and projects, and began my own parent reported patient research project because nothing existed. I quickly identified that our children shared much more medically complex conditions than currently known. I began to collaborate with medical researchers around the world and that is when I decided to create the ADNP Kids Research Foundation.
I dove head first into research and started doing my own studies and projects, and began my own parent reported patient research project because nothing existed. I quickly identified that our children shared much more medically complex conditions than currently known. I began to collaborate with medical researchers around the world and that is when I decided to create the ADNP Kids Research Foundation.
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ADNP KIDS RESEARCH FOUNDATION IS BORN |
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In 2016 there was still very little known about ADNP Syndrome and there was no collaborative research effort underway in the US, so 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.
ADNP Kids Research Foundation supports a global community of families and growing team of researchers, dedicated to finding treatments and a cure for all children and adults with ADNP syndrome. We are motivated by the HOPE of incredible breakthroughs in the future of science and the belief that parents can move mountains to allow our children with ADNP syndrome to have a better quality of life.
We are a small grassroots organization ran by parents and fueled by the love of our children. We are connected by this devastating rare disease and we as families are leading efforts to accelerate research together, because together we believe we can help our children find treatments. Now with these amazing families, we are not stopping until we find a cure!
ADNP Kids Research Foundation supports a global community of families and growing team of researchers, dedicated to finding treatments and a cure for all children and adults with ADNP syndrome. We are motivated by the HOPE of incredible breakthroughs in the future of science and the belief that parents can move mountains to allow our children with ADNP syndrome to have a better quality of life.
We are a small grassroots organization ran by parents and fueled by the love of our children. We are connected by this devastating rare disease and we as families are leading efforts to accelerate research together, because together we believe we can help our children find treatments. Now with these amazing families, we are not stopping until we find a cure!
MY PERSONAL RESEARCH ACCOMPLISHMENTS INCLUDE:
THERE IS
HOPE FOR A CURE!
- In early 2015 I discovered the first biomarker for ADNP Syndrome; children have rapid "premature tooth eruption" which is an early diagnostic biomarker in ADNP syndrome, and is not seen in any other known syndrome in the world.
- To date, I have co-author 5 ADNP specific medical publications with researchers from Tel Aviv University, Cognitive Genetics-University of Antwerp and University of Washington TIGER/Bernier Lab.
- The most important research accomplishment has been, together with another father of a child with ADNP Syndrome, we researched, hypothesized and presented to Mount Sinai an idea of a repurposed drug called low dose ketamine which we believed could be therapeutic for our children. They agreed that this looked promising, and this has resulted in the 1st ever FDA drug trial for ADNP syndrome which began in the fall of 2020.
THERE IS
HOPE FOR A CURE!
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.
Some of my articles, news stories and publications:
- ONE MOMS MISSION TO FIND CURE FOR SON'S RARE DISEASE: | *CBS National News
- WASHINGTON MOM DESPERATE TO FIND CURE FOR SON: | *PEOPLE
- SEATTLE SEAHAWKS PLAYER HONORS WASHINGTON BOY WITH RARE DISORDER - ADNP SYNDROME | *KGW News Portland
- MOTHER'S CRUSADE FOR SONS RARE CONDITION: | *Daily Mail UK
- AUTISM AND ADNP SYNDROME: A GENETIC SEARCH FOR A BIOMARKER DISCOVERY | *Autism Speaks
- WHY MY SON WITH ADNP SYNDROME IS JUST LIKE SUPERMAN | * The Mighty.com
- LOCAL MOTHER'S QUEST TO DEFEND PRECISION MEDICINE | * The Oregonian – OregonLive
- PARENTS, PRECISION MEDICINE, AUTISM AND GENETICS | * Spectrums Magazine
- A MOTHER'S QUEST TO UNRAVEL A MYSTERY AND PUSH RESEARCH FORWARD - A FIGHT FOR TONY | * Interactive Autism Network at Kennedy Krieger Institute
- PRECOCIOUS BABY TEETH SIGNAL RARE FORM OF AUTISM | * Spectrum News
- THE COMPASSIONATE SIDE OF NEUROSCIENCE: TONY SERMONE'S UNDIAGNOSED GENETIC JOURNEY - ADNP MUTATION | * Journal of Molecular Neuroscience
- IAN MEMBER DISCOVERS EARLY WARNING SIGN FOR AUTISM SYNDROME | * Interactive Autism Network at Kennedy Krieger Institute
- LOCAL MOM HELPING CHANGE THE WAY DOCTORS LOOK AT RARE GENETIC SYNDROME LINKED TO AUTISM | * FOX-12 NEWS (OREGON)
- UNEXPECTED INNOVATIVE EARLY DIAGNOSIS IN AUTISM SPECTRUM DISORDER: PREMATURE PRIMARY TOOTH ERUPTION IN ADNP-MUTATED CHILDREN | * Translational Psychiatry
- SAVVY MOM MOVES SCIENCE FORWARD: ADNP AND AUTISM | * Seattle Children's Hosptial – The Autism Blog
- THE EIGHT AND A HALF YEAR JOURNEY OF UNDIAGNOSED AD | *Frontiers in Endocrinology