How ADNPkids began, what's going on and what's next
ADNP SYNDROME 101:
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome HVDAS). ADNP Syndrome is an extremely rare complex neurological development disorder caused by a mutation to the ADNP (Activity Dependent Neuroprotective Protein) gene. The mutation is de novo, meaning it is not hereditary and just spontaneously happened for no known reason. This is an important brain gene that when mutated can affect brain formation and development as well as many other areas and functions of the body. It can affect the neurological, cardiovascular, endocrine, immune and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. It causes gross motor, fine motor, oral motor, intelligence and speech delays. It causes behavior disorders such as Autism. In fact, this rare disease to which there is still no single test to diagnose, is estimated to be one of the most frequent de novo Autism causing syndromes known to date.
MY ADNP CONNECTION:
My name is Sandra Bedrosian Sermone, I am the founder and president of the ADNP Kids Research Foundation
and founder and creator of ADNPkids.com. My son Tony, a beautiful twin boy born in 2008 was diagnosed with a mutation to his ADNP gene in 2014 through an Undiagnosed Genetic Syndrome study at Duke University.
THE DIAGNOSIS: Tony was the first child diagnosed in the US after the discovery of the syndrome in 2014. At that time, only ONE single medical publication existed. The syndrome had NO name, there was NO place to find support, NO place to connect with other families, NO medical protocol, NO treatments or cure and NO information for us to understand what this diagnosis meant for our son and his future. This was extremely frustrating because it took 6 years to get a diagnosis, and now that we had one, it was completely unknown and there was no place for us to take him to see doctors who understood the syndrome.
A WORRIED MOTHER DOES BETTER RESEARCH THAT THE FBI: when I returned home from Duke with no helpful information, I became what I call - a crazy obsessed, highly caffeinated, middle of the night, internet stalking, “ADNP Mommy Researching Detective”. I started researching everything I could about the ADNP gene. I immediately reached out the team Cognitive Genetics in Belgium who discover the syndrome and to the worlds expert on ADNP, neuroscientist Professor Illana Gozes who discovered the gene in Israel. In a few months time I was able to find 3 other families, so I created an ADNP parent group on Facebook with the goal of helping to connect more families affected by ADNP so that we could learn more about the syndrome. It was amazing to connect with other families. To no longer feel alone and to be able to talk to parents on the same journey was so comforting and informative. As our ADNP community grew on Facebook, and my knowledge of the syndrome, I started to identify that our children shared much more medically complex conditions than currently known. I began to collaborate with medical researchers all around the world and started a parent/patient generated database. I built my own registry, and to date, have the largest collect of diagnosed patients in the world in our ADNPkids group.
ADNPkids.com:
Since no informative website existed, and I realized that families and doctors were flying blind with nowhere to find current data, I created ADNPkids.com, an informational website which has become a tool for families and diagnosing physicians around the world to review current and relevant statistic data on the syndrome, as well as a place to find information on the ADNP community as a whole. I wanted to create this website and support system for families so that in the future, when a family receives an ADNP diagnosis, they won’t be left feeling clueless and alone like we did. Rather, they will have a place to find a community of other ADNP families, information and support.
NEW BIOMARKER:
In early 2015, I discovered premature tooth eruption as an early diagnostic biomarker. After almost a full year of obsessing over our ADNP kids baby teeth, I convinced the European research team (Gozes, Kooy, Dijck) led by Professor Illana Gozes to investigate and confirm primary teething to be associated with the ADNP related autistic disorder, providing for simple EARLY diagnosis and paving the path to early intervention.
I am a huge proponent for early diagnosis so that children can begin aggressive specialized therapy plans which I truly believe will improve the long-term outcome of the child.
FOUNDATION AND FUTURE:
In 2016 I founded the ADNP Kids Research Foundation, which is a grass roots non-profit organization based out of Washington state with the mission to provide advocacy, support, education and research funding to find treatments. In 2017 a group of amazing parents joined the board of directors and we are growing our medical advisory team. We are beginning to see awareness build and treatment possibilities in the near future. In January of 2017, we announced that Dr. Gozes and a team at Coronis Neuroscience had a treatment drug in the pipeline and we are moving forward to begin a first phase clinical trial. This information and future news can be found in the foundation website. (www.adnpfoundation.org) Good things are coming for our amazing children with ADNP!
Welcome to our ADNP family! You are no longer alone in this journey. I am here to help so please feel free to contact me if you have any questions, need more information, or just want to talk to another mother who is in the same boat. I can be reached at sandra@adnpfoundation.org.
ADNP SYNDROME 101:
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome HVDAS). ADNP Syndrome is an extremely rare complex neurological development disorder caused by a mutation to the ADNP (Activity Dependent Neuroprotective Protein) gene. The mutation is de novo, meaning it is not hereditary and just spontaneously happened for no known reason. This is an important brain gene that when mutated can affect brain formation and development as well as many other areas and functions of the body. It can affect the neurological, cardiovascular, endocrine, immune and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. It causes gross motor, fine motor, oral motor, intelligence and speech delays. It causes behavior disorders such as Autism. In fact, this rare disease to which there is still no single test to diagnose, is estimated to be one of the most frequent de novo Autism causing syndromes known to date.
MY ADNP CONNECTION:
My name is Sandra Bedrosian Sermone, I am the founder and president of the ADNP Kids Research Foundation
and founder and creator of ADNPkids.com. My son Tony, a beautiful twin boy born in 2008 was diagnosed with a mutation to his ADNP gene in 2014 through an Undiagnosed Genetic Syndrome study at Duke University.
THE DIAGNOSIS: Tony was the first child diagnosed in the US after the discovery of the syndrome in 2014. At that time, only ONE single medical publication existed. The syndrome had NO name, there was NO place to find support, NO place to connect with other families, NO medical protocol, NO treatments or cure and NO information for us to understand what this diagnosis meant for our son and his future. This was extremely frustrating because it took 6 years to get a diagnosis, and now that we had one, it was completely unknown and there was no place for us to take him to see doctors who understood the syndrome.
A WORRIED MOTHER DOES BETTER RESEARCH THAT THE FBI: when I returned home from Duke with no helpful information, I became what I call - a crazy obsessed, highly caffeinated, middle of the night, internet stalking, “ADNP Mommy Researching Detective”. I started researching everything I could about the ADNP gene. I immediately reached out the team Cognitive Genetics in Belgium who discover the syndrome and to the worlds expert on ADNP, neuroscientist Professor Illana Gozes who discovered the gene in Israel. In a few months time I was able to find 3 other families, so I created an ADNP parent group on Facebook with the goal of helping to connect more families affected by ADNP so that we could learn more about the syndrome. It was amazing to connect with other families. To no longer feel alone and to be able to talk to parents on the same journey was so comforting and informative. As our ADNP community grew on Facebook, and my knowledge of the syndrome, I started to identify that our children shared much more medically complex conditions than currently known. I began to collaborate with medical researchers all around the world and started a parent/patient generated database. I built my own registry, and to date, have the largest collect of diagnosed patients in the world in our ADNPkids group.
ADNPkids.com:
Since no informative website existed, and I realized that families and doctors were flying blind with nowhere to find current data, I created ADNPkids.com, an informational website which has become a tool for families and diagnosing physicians around the world to review current and relevant statistic data on the syndrome, as well as a place to find information on the ADNP community as a whole. I wanted to create this website and support system for families so that in the future, when a family receives an ADNP diagnosis, they won’t be left feeling clueless and alone like we did. Rather, they will have a place to find a community of other ADNP families, information and support.
NEW BIOMARKER:
In early 2015, I discovered premature tooth eruption as an early diagnostic biomarker. After almost a full year of obsessing over our ADNP kids baby teeth, I convinced the European research team (Gozes, Kooy, Dijck) led by Professor Illana Gozes to investigate and confirm primary teething to be associated with the ADNP related autistic disorder, providing for simple EARLY diagnosis and paving the path to early intervention.
I am a huge proponent for early diagnosis so that children can begin aggressive specialized therapy plans which I truly believe will improve the long-term outcome of the child.
FOUNDATION AND FUTURE:
In 2016 I founded the ADNP Kids Research Foundation, which is a grass roots non-profit organization based out of Washington state with the mission to provide advocacy, support, education and research funding to find treatments. In 2017 a group of amazing parents joined the board of directors and we are growing our medical advisory team. We are beginning to see awareness build and treatment possibilities in the near future. In January of 2017, we announced that Dr. Gozes and a team at Coronis Neuroscience had a treatment drug in the pipeline and we are moving forward to begin a first phase clinical trial. This information and future news can be found in the foundation website. (www.adnpfoundation.org) Good things are coming for our amazing children with ADNP!
Welcome to our ADNP family! You are no longer alone in this journey. I am here to help so please feel free to contact me if you have any questions, need more information, or just want to talk to another mother who is in the same boat. I can be reached at sandra@adnpfoundation.org.
Tony with twin brother Rocco
News, Stories and Publications:
PARENTS, PRECISION MEDICINE, AUTISM AND GENETICS
* Spectrums Magazine
PRECOCIOUS BABY TEETH SIGNAL RARE FORM OF AUTISM
* Spectrum News
IAN MEMBER DISCOVERES 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 COMPASSIONATE SIDE OF NEUROSCIENCE: TONY SERMONE'S UNDIAGNOSED GENETIC JOURNEY - ADNP MUTATION
* Journal of Molecular Neuroscience
LOCAL MOTHER'S QUEST TO DEFEND PRECISION MEDICINE
* The Oregonian – OregonLive
A MOTHER'S QUEST TO UNRAVEL A MYSTERY AND PUSH RESEARCH FORWARD - A FIGHT FOR TONY
* Interactive Autism Network at Kennedy Krieger Institute
WHY MY SON WITH ADNP SYNDROME IS JUST LIKE SUPERMAN
* The Mighty.com
ADNP - THE MEDICAL ODYSSEY OF A UNDIAGNOSED CHILD
* Tel Aviv University Newsroom
PARENTS, PRECISION MEDICINE, AUTISM AND GENETICS
* Spectrums Magazine
PRECOCIOUS BABY TEETH SIGNAL RARE FORM OF AUTISM
* Spectrum News
IAN MEMBER DISCOVERES 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 COMPASSIONATE SIDE OF NEUROSCIENCE: TONY SERMONE'S UNDIAGNOSED GENETIC JOURNEY - ADNP MUTATION
* Journal of Molecular Neuroscience
LOCAL MOTHER'S QUEST TO DEFEND PRECISION MEDICINE
* The Oregonian – OregonLive
A MOTHER'S QUEST TO UNRAVEL A MYSTERY AND PUSH RESEARCH FORWARD - A FIGHT FOR TONY
* Interactive Autism Network at Kennedy Krieger Institute
WHY MY SON WITH ADNP SYNDROME IS JUST LIKE SUPERMAN
* The Mighty.com
ADNP - THE MEDICAL ODYSSEY OF A UNDIAGNOSED CHILD
* Tel Aviv University Newsroom
The ADNP Medical and Scientific Research Team
Please click on each photo to be redirected to their personal description page
Please click on each photo to be redirected to their personal description page
|
|
