OUR STORY - it all began with Tony....
When our twin boys Rocco and Tony where born we were elated, but within hours things started going horribly wrong with Tony. The first thing we found out was that he needed heart surgery, then began numerous problems with his brain, his vision, his development and so many medical issues, some requiring surgeries, that I could never keep track. He and I 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, one while on full bypass he suffered mini strokes). As a baby, he could not eat or swallow, walk or talk like his twin brother, and we watched him fall 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. The list goes on and on, but for 6 long years and hundreds of lab, genetic and diagnosis testing, no one could tell us what was wrong with our son. That is because it wasn't discovered until 2014.
In May of 2014, we were given the devastating news that our son was the 1st child diagnosed in the US, 11th' in the world, with a genetic mutation on a master brain gene called ADNP, and it was not hereditary, it was a denovo mutation. Read about the crazy odds of that happening at How My Son Won the Mega Millions Lottery Jackpot of Rare Genetic Disorders.
This condition was so RARE and unknown that only one medical publication existed! 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. - NO WAS NOT AN OPTION!
This devastating diagnosis left us feeling HELPLESS because we were all ALONE; he was the only patient diagnosed in the entire country. We had no information on this syndrome and we were SCARED and HEARTBROKEN. We were left to grieve the life we thought our son and our family would have and where told that he may not live to become an adult and if he did, he would need 24/7 care. There are no words to describe hearing these words as a parent. Our son had this INCURABLE disorder and there was nothing to help him because nothing existed. Like I said, this was not an option and grief quickly turned into determination to find a way to help him. If no one in the world was trying to cure my sons rare disease, then I was going to fight like a mother to find a cure and get someone working on ADNP - ASAP.
HELPLESS turned into hopeful (which was a much better feeling).
ALONE turned into finding and connecting with families and hunting down the best scientists in the world to work on ADNP.
SCARED turning into relentlessly researching to understand ADNP and how it affects our children.
HEARTBROKEN turned into determination to help accelerate awareness and research for treatments of ADNP as fast as possible.
INCURABLE turned into a plan to one day cure this disease.
NOT AN OPTION turned me into one part Erin Brockovich (aka parent scientist) and one part Honey Badger (aka relentless 24/7 ADNP attach dog) to find an option.
When our twin boys Rocco and Tony where born we were elated, but within hours things started going horribly wrong with Tony. The first thing we found out was that he needed heart surgery, then began numerous problems with his brain, his vision, his development and so many medical issues, some requiring surgeries, that I could never keep track. He and I 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, one while on full bypass he suffered mini strokes). As a baby, he could not eat or swallow, walk or talk like his twin brother, and we watched him fall 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. The list goes on and on, but for 6 long years and hundreds of lab, genetic and diagnosis testing, no one could tell us what was wrong with our son. That is because it wasn't discovered until 2014.
In May of 2014, we were given the devastating news that our son was the 1st child diagnosed in the US, 11th' in the world, with a genetic mutation on a master brain gene called ADNP, and it was not hereditary, it was a denovo mutation. Read about the crazy odds of that happening at How My Son Won the Mega Millions Lottery Jackpot of Rare Genetic Disorders.
This condition was so RARE and unknown that only one medical publication existed! 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. - NO WAS NOT AN OPTION!
This devastating diagnosis left us feeling HELPLESS because we were all ALONE; he was the only patient diagnosed in the entire country. We had no information on this syndrome and we were SCARED and HEARTBROKEN. We were left to grieve the life we thought our son and our family would have and where told that he may not live to become an adult and if he did, he would need 24/7 care. There are no words to describe hearing these words as a parent. Our son had this INCURABLE disorder and there was nothing to help him because nothing existed. Like I said, this was not an option and grief quickly turned into determination to find a way to help him. If no one in the world was trying to cure my sons rare disease, then I was going to fight like a mother to find a cure and get someone working on ADNP - ASAP.
HELPLESS turned into hopeful (which was a much better feeling).
ALONE turned into finding and connecting with families and hunting down the best scientists in the world to work on ADNP.
SCARED turning into relentlessly researching to understand ADNP and how it affects our children.
HEARTBROKEN turned into determination to help accelerate awareness and research for treatments of ADNP as fast as possible.
INCURABLE turned into a plan to one day cure this disease.
NOT AN OPTION turned me into one part Erin Brockovich (aka parent scientist) and one part Honey Badger (aka relentless 24/7 ADNP attach dog) to find an option.
In 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. Now they have a place to connect with other families and find information and support. This has become something very special, our very own ADNP Tribe. A group of amazing parents from all around the world, all on the same ADNP rollercoaster and all who want to help their children live their best life possible.
I also dove head first into research and became what I called a "crazy obsessed, middle of the night, internet stalking, Google educated parent scientist". I started doing my own studies and projects and began my own parent reported patient research project because nothing existed at the time. I quickly identified that our children shared much more medically complex conditions than currently known. I began to collaborate and co-publish papers with medical researchers around the world and that is when I decided to create the ADNP Kids Research Foundation.
I also dove head first into research and became what I called a "crazy obsessed, middle of the night, internet stalking, Google educated parent scientist". I started doing my own studies and projects and began my own parent reported patient research project because nothing existed at the time. I quickly identified that our children shared much more medically complex conditions than currently known. I began to collaborate and co-publish papers 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 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 our 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 our amazing families, we are not stopping until we find a cure.
MY PERSONAL RESEARCH ACCOMPLISHMENTS INCLUDE:
- 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, which importantly is not seen in any other known syndrome in the world, making it unique to ADNP.
- 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.
Below are photos of my son 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 medical 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
