FOR IMMEDIATE RELEASE: STORY PITCH FOR: World Rare Disease Day – Feb 29th or Autism Awareness Month – April
PUBLISHED 02-01-2020
Parents find glimpse of hope for treatment of their children’s RARE neurological genetic disease highly linked to Autism.
SUMMARY:
A new drug trial provides the first of glimpse hope for families of children with a rare neurological genetic syndrome recently identified as one of the top single genes linked to Autism. The cherry on top of the story is, parents found it in a very unique way.
These parents, researched and presented a repourpsed drug idea last year to top scientists at Mount Sinai in New York, who are now moving forward with the first ever drug trial for their children’s rare neurological disorder and last week the FDA gave approval to begin the study!
Just this week, in the largest genetic sequencing study of autism spectrum disorder (ASD) to date (CELL), researchers identified 102 genes associated with risk for autism. One of these genes, the ADNP gene, has been identified to be one of the top single genes related to autism in that report, causing a complex and rare neurological genetic disorder called ADNP syndrome. “With these identified genes, we can begin to understand what brain changes underlie autism spectrum disorder and begin to consider novel treatment approaches” said author Joseph Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai in New York.
Dr. Buxbaum and his team at Mount Sinai are currently working on two novel treatment options for ADNP Syndrome. The first drug trial they will begin oddly was found not by their research team, it was found by 2 parents of children with ADNP syndrome. Sandra Sermone of Washington and Matt Davis of Alabama. These 2 parents worked together to find, research and present a repurposed drug to Dr. Buxbaum and his team at Mount Sinai who took it on and have moved forward and just last week, the FDA has just given approval to begin that pediatric drug trial. The parents now must quickly raise about $130,000 to run Phase 2 study as soon as possible.
These parents, just like many parents of children with rare diseases, are stepping outside the norm and are diving in head first to rush and push forward science, research, drug development and awareness for their children’s rare and mysterious disorder. "We are racing against time to save our children". ”We have to meet these challenges head and try to push for drug discovery ourselves because no one else is going to care more about our children than we are.” Sandra Sermone
February 29th is World Rare Disease Day. Rare disease is anything but rare. As many as 7,000 rare diseases affect 400 million people worldwide. The vast majority are not well known or understood, and fewer than five percent have any FDA-approved therapy. But ADNP syndrome has not one but two possible drugs in the pipeline.
The Rare disease stories are rarely talked about. Why? Because they are so rare? But are they?
The second part of this story is an eye opener. Read how this rare disorder that has only been diagnosed in 250 children worldwide, is a lot more prevalent than anyone ever thought; it’s not so rare. In fact, Dr. Buxbaum estimates that 1 in 20,000 could have an ADNP mutation causing autistic traits and developmental delays. Why is it important for this story? Because there could be a potential drug in the near future that could help all of those children, but not unless they have genetic testing. ADNP syndrome also has some very unique traits in the children which is easily identified, but our story needs to be told so these parents around the country can see if this sounds like their child.
FOR IMMEDIATE RELEASE: STORY PITCH FOR: World Rare Disease Day – Feb 29th or Autism Awareness Month – April
PUBLISHED 02-01-2020
Parents find glimpse of hope for treatment of their children’s RARE neurological genetic disease highly linked to Autism.
SUMMARY:
A new drug trial provides the first of glimpse hope for families of children with a rare neurological genetic syndrome recently identified as one of the top single genes linked to Autism. The cherry on top of the story is, parents found it in a very unique way.
These parents, researched and presented a repourpsed drug idea last year to top scientists at Mount Sinai in New York, who are now moving forward with the first ever drug trial for their children’s rare neurological disorder and last week the FDA gave approval to begin the study!
Just this week, in the largest genetic sequencing study of autism spectrum disorder (ASD) to date (CELL), researchers identified 102 genes associated with risk for autism. One of these genes, the ADNP gene, has been identified to be one of the top single genes related to autism in that report, causing a complex and rare neurological genetic disorder called ADNP syndrome. “With these identified genes, we can begin to understand what brain changes underlie autism spectrum disorder and begin to consider novel treatment approaches” said author Joseph Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai in New York.
Dr. Buxbaum and his team at Mount Sinai are currently working on two novel treatment options for ADNP Syndrome. The first drug trial they will begin oddly was found not by their research team, it was found by 2 parents of children with ADNP syndrome. Sandra Sermone of Washington and Matt Davis of Alabama. These 2 parents worked together to find, research and present a repurposed drug to Dr. Buxbaum and his team at Mount Sinai who took it on and have moved forward and just last week, the FDA has just given approval to begin that pediatric drug trial. The parents now must quickly raise about $130,000 to run Phase 2 study as soon as possible.
These parents, just like many parents of children with rare diseases, are stepping outside the norm and are diving in head first to rush and push forward science, research, drug development and awareness for their children’s rare and mysterious disorder. "We are racing against time to save our children". ”We have to meet these challenges head and try to push for drug discovery ourselves because no one else is going to care more about our children than we are.” Sandra Sermone
February 29th is World Rare Disease Day. Rare disease is anything but rare. As many as 7,000 rare diseases affect 400 million people worldwide. The vast majority are not well known or understood, and fewer than five percent have any FDA-approved therapy. But ADNP syndrome has not one but two possible drugs in the pipeline.
The Rare disease stories are rarely talked about. Why? Because they are so rare? But are they?
The second part of this story is an eye opener. Read how this rare disorder that has only been diagnosed in 250 children worldwide, is a lot more prevalent than anyone ever thought; it’s not so rare. In fact, Dr. Buxbaum estimates that 1 in 20,000 could have an ADNP mutation causing autistic traits and developmental delays. Why is it important for this story? Because there could be a potential drug in the near future that could help all of those children, but not unless they have genetic testing. ADNP syndrome also has some very unique traits in the children which is easily identified, but our story needs to be told so these parents around the country can see if this sounds like their child.
FULL STORY INFORMATION:
11 year old Tony lives in Washington state with his twin brother Rocco, his parents Rich and Sandra, and his sister Sophia. However, Tony is very different from the rest of his family, including his twin brother, because Tony was born with a very rare non-hereditary disorder that leaves him with a debilitating disease that currently has no treatment and no cure, it’s called ADNP syndrome.
11 year old Tony lives in Washington state with his twin brother Rocco, his parents Rich and Sandra, and his sister Sophia. However, Tony is very different from the rest of his family, including his twin brother, because Tony was born with a very rare non-hereditary disorder that leaves him with a debilitating disease that currently has no treatment and no cure, it’s called ADNP syndrome.
Sermone Family (Rocco, Rich, Tony, Sandra and Sophia)
Tony in a nutshell; Tony lived in and out of the hospital as a baby and had a massive never ending list of surgeries, procedures and medical complications/emergencies. He was born with several heart defects and had his first open heart surgery at 3 months old and his last at 3 years old. He has many brain abnormalities, has had strokes, brain atrophy, seizures and devastating episodes of regression. He has severe intellectual, developmental and speech delays. He has problems with sleep, feeding, sensory processing, vision, motor planning, gastric and endocrine. He does not understand danger, needs help with all parts of daily living, including feeding, dressing, and bathing, and is still in diapers. He will need full time care for the rest of his life.
Despite all of his challenges, his family says the most difficult thing to deal with is his severe autism and they are most fearful about the continued degeneration of his brain and what that will mean for his future. They are fighting a race against time to save their son. "This is a brain development gene, and his brain is shrinking, the longer we wait for treatment the more his brain is damaged, we need to stop this now!"
Despite all of his challenges, his family says the most difficult thing to deal with is his severe autism and they are most fearful about the continued degeneration of his brain and what that will mean for his future. They are fighting a race against time to save their son. "This is a brain development gene, and his brain is shrinking, the longer we wait for treatment the more his brain is damaged, we need to stop this now!"
Tony was a medical mystery for close to 6 years. Although Tony was a very happy, loving and sweet child, he was extremely medically complex. Even the strangest things like, why did he have a full mouth of little chicklet teeth at the early age of 12 months old, why was he having absence seizures seen by all but not detected on EEG’s, why did he love adults but hardly engaged with other children, including his twin brother? Why was he so happy, but so delayed? He was a medical anomaly and spent years seeing a multidisciplinary team of doctors. He underwent a battery of genetic testing until his family decided to enroll him into a undiagnosed genetic study at Duke University where they did Whole Exome Sequencing on the entire family, and in 2014, Tony was diagnosed with a de novo mutation on his ADNP gene. At the time, the syndrome was so unknown and new that only one medical publication existed and the syndrome didn’t even have a name.
At that time, Tony was the 11th child in the world diagnosed. There were NO doctors who understood it, NO information on what to do, NO support group or website, and worst of all, NO treatments and NO cure. Sandra wrote about the rarity of the disorder in a very easy to understand blog How My Son Won The Mega Million Lottery Jackpot of Rare Disease.
Photo from ADNPkids.com blog/website
Sandra dove straight into research and devoted herself to helping her child. She stopped everything she was doing, while her children were at school, and while her family was sleeping, she worked, researching everything she could about ADNP syndrome. While other parents were looking up the best play date groups, Sandra was looking up the best scientists that could help her child.
Sandra has become an expert on and pioneered nearly everything that exists on ADNP syndrome. She created the world’s first ADNP parent support group to find and connect families, built a strong international research network, created the first ADNP syndrome informational website (adnpkids.com) and founded the ADNP Kids Research Foundation (adnpfoundation.org).
She is not a doctor, but she started conducting research like one. She built her own parent driven patient register and to date has connected the largest group of diagnosed patients in the world! Through her own research, Sandra made the initial discovery of the very first physical biomarker of ADNP syndrome and has collaborated and co-authored 5 medical publications with some of the world’s top experts in autism and the ADNP gene. (Some of her publications and stories can be found HERE) She now works with these researchers and scientists on what she calls a race against time to help not only her child, but all children with ADNP.
Here’s where the story gets good. A couple of years ago, Sandra’s research effort was super-sized by a dad of another ADNP syndrome child. She connected with Matt Davis, who is a father of a boy diagnosed with ADNP Syndrome 2 years ago named Benjamin from Alabama. Benjamin is now 3 years old and he also suffers from a long list of medical and developmental delays, has had to have surgery as a young child, and sees a multidisciplinary team of doctors and therapists. But because he was diagnosed at such a young age, and because so much information now exists just 4 years later on ADNP, his family has been able to understand the syndrome and do more for him, and they continue to look for ways to help him and are doing everything they can to help their son.
Sandra has become an expert on and pioneered nearly everything that exists on ADNP syndrome. She created the world’s first ADNP parent support group to find and connect families, built a strong international research network, created the first ADNP syndrome informational website (adnpkids.com) and founded the ADNP Kids Research Foundation (adnpfoundation.org).
She is not a doctor, but she started conducting research like one. She built her own parent driven patient register and to date has connected the largest group of diagnosed patients in the world! Through her own research, Sandra made the initial discovery of the very first physical biomarker of ADNP syndrome and has collaborated and co-authored 5 medical publications with some of the world’s top experts in autism and the ADNP gene. (Some of her publications and stories can be found HERE) She now works with these researchers and scientists on what she calls a race against time to help not only her child, but all children with ADNP.
Here’s where the story gets good. A couple of years ago, Sandra’s research effort was super-sized by a dad of another ADNP syndrome child. She connected with Matt Davis, who is a father of a boy diagnosed with ADNP Syndrome 2 years ago named Benjamin from Alabama. Benjamin is now 3 years old and he also suffers from a long list of medical and developmental delays, has had to have surgery as a young child, and sees a multidisciplinary team of doctors and therapists. But because he was diagnosed at such a young age, and because so much information now exists just 4 years later on ADNP, his family has been able to understand the syndrome and do more for him, and they continue to look for ways to help him and are doing everything they can to help their son.
Dr. Matt Davis and son Benjamin
Matt is a neurosurgeon in an academic setting, so he has had years of experience with clinical trials and now a vested interest in drug development because his son was one of the youngest children diagnosed with ADNP Syndrome. Benjamin was just 1 year old when he was diagnosed.
Matt decided to jump right in to researching a peptide that was being proposed for ADNP syndrome in Israel called NAP. Sandra had already been working with the Israeli team who created the peptide for years. The drug was slowly moving forward but then seemed to slam into a complete stall.
Sandra and Matt teamed up and started working together in 2018. During that time, they started looking deeper into the peptide that stalled and become quite frustrated because as each day passed, their children, and all children with ADNP syndrome were waiting to find out if this treatment could work to help their children.
Desperate to do something, they began to have conversations about ‘repurposed drug development’. Repurposed drug development is one of the hottest topics in precision medicine and in rare disease drug development.
They came across something very interesting that they began investigating in great detail. They worked as a team, Matt found publications and compiled the data and Sandra started attending biotech and drug development conferences and handled presenting to the researchers.
Together Matt and Sandra read and researched hundreds of pages of medical literature, contacted and spoke to other scientists and collected relevant data to build a case for a possible treatment using a repurposed drug called ‘Ketamine’. They believe low-dose Ketamine may increase ADNP expression, and if their children have a deficiency in the ADNP protein, this could increase the protein and possibly be therapeutic.
Ketamine has made headlines recently when it obtained FDA approval in intranasal esketamine (Sprav
atoÒ) for treatment-resistant depression. However, and important for ADNP syndrome, studies in animal models suggest that low-dose ketamine may increase expression of ADNP in nerve cells. For this reason, treatment with low-dose ketamine may have beneficial effects in individuals with ADNP syndrome by compensating for ADNP insufficiency.
They investigated it, summarized it, hired an attorney, filed for IP and then presented their information to Dr. Joseph Buxbaum at Mount Sinai. Buxbaum was immediately interested and took it to his team to further investigate. Buxbaum and his team, led by Dr Alex Kolevzon at Mount Sinai both felt this could be a viable treatment and Kolevzon took the lead by submitting the study to the FDA in December. Last week they received a response from the FDA saying that the trial was safe to proceed with a study of Ketamine as treatment of ADNP. The first drug trial ever for ADNP Syndrome is about to begin!
This is certainly not the norm. Parents do not present repurposed drug ideas to directors of medical centers that go to drug trial. Especially treatments that could help children with autism. But their persistence paid off and they now believe that they have a viable treatment option that could help their children and others. They have the FDA's approval to begin, now they must raise approximately $150,000 to fund the study.
“Our children with this syndrome need treatments right now not 5 years from now. This isn’t the gifted type of autism that you see on TV, my son is never going to be a doctor. My beautiful sweet son has permanent and profound global developmental and intellectual delays, autism, seizures and will require care for the rest of his life. It is heartbreaking and isolating and nobody understands what we are going through, what he goes through, what it is like to live with a child who looks so normal on the outside but is so severe on the inside. It is frighting not knowing what is going to happen to him in the future. Our children with this awful syndrome are amazing little humans who happen to be globally and severely affected. Our ultimate goal is a cure, but right now, if we can improve the tiniest thing and give them even a slightly brighter tomorrow than they have today, it will be a dream.” Sandra Sermone
Matt decided to jump right in to researching a peptide that was being proposed for ADNP syndrome in Israel called NAP. Sandra had already been working with the Israeli team who created the peptide for years. The drug was slowly moving forward but then seemed to slam into a complete stall.
Sandra and Matt teamed up and started working together in 2018. During that time, they started looking deeper into the peptide that stalled and become quite frustrated because as each day passed, their children, and all children with ADNP syndrome were waiting to find out if this treatment could work to help their children.
Desperate to do something, they began to have conversations about ‘repurposed drug development’. Repurposed drug development is one of the hottest topics in precision medicine and in rare disease drug development.
They came across something very interesting that they began investigating in great detail. They worked as a team, Matt found publications and compiled the data and Sandra started attending biotech and drug development conferences and handled presenting to the researchers.
Together Matt and Sandra read and researched hundreds of pages of medical literature, contacted and spoke to other scientists and collected relevant data to build a case for a possible treatment using a repurposed drug called ‘Ketamine’. They believe low-dose Ketamine may increase ADNP expression, and if their children have a deficiency in the ADNP protein, this could increase the protein and possibly be therapeutic.
Ketamine has made headlines recently when it obtained FDA approval in intranasal esketamine (Sprav
atoÒ) for treatment-resistant depression. However, and important for ADNP syndrome, studies in animal models suggest that low-dose ketamine may increase expression of ADNP in nerve cells. For this reason, treatment with low-dose ketamine may have beneficial effects in individuals with ADNP syndrome by compensating for ADNP insufficiency.
They investigated it, summarized it, hired an attorney, filed for IP and then presented their information to Dr. Joseph Buxbaum at Mount Sinai. Buxbaum was immediately interested and took it to his team to further investigate. Buxbaum and his team, led by Dr Alex Kolevzon at Mount Sinai both felt this could be a viable treatment and Kolevzon took the lead by submitting the study to the FDA in December. Last week they received a response from the FDA saying that the trial was safe to proceed with a study of Ketamine as treatment of ADNP. The first drug trial ever for ADNP Syndrome is about to begin!
This is certainly not the norm. Parents do not present repurposed drug ideas to directors of medical centers that go to drug trial. Especially treatments that could help children with autism. But their persistence paid off and they now believe that they have a viable treatment option that could help their children and others. They have the FDA's approval to begin, now they must raise approximately $150,000 to fund the study.
“Our children with this syndrome need treatments right now not 5 years from now. This isn’t the gifted type of autism that you see on TV, my son is never going to be a doctor. My beautiful sweet son has permanent and profound global developmental and intellectual delays, autism, seizures and will require care for the rest of his life. It is heartbreaking and isolating and nobody understands what we are going through, what he goes through, what it is like to live with a child who looks so normal on the outside but is so severe on the inside. It is frighting not knowing what is going to happen to him in the future. Our children with this awful syndrome are amazing little humans who happen to be globally and severely affected. Our ultimate goal is a cure, but right now, if we can improve the tiniest thing and give them even a slightly brighter tomorrow than they have today, it will be a dream.” Sandra Sermone
Genie, Matt and Sandra at UCLA Peptide Conference
There is a second part of this story and that is awareness of the importance of genetic testing. This can be added to the Rare Disease Day story or it can be separated for a story for Autism Awareness Month.
Genie Egerton-Warburton adds to this trifecta of super-parents. She is also a mother of a child with ADNP Syndrome named Rowland. She and Sandra are trying to spread national awareness about ADNP syndrome and other genetic autism syndromes. With the support of Dr. Buxbaum and their team at Mount Sinai, the hope to build awareness of the importance of genetic testing and autism. They call themselves the Laverne and Shirley of ADNP and they are trying to work with anyone they can to raise awareness about genetic causes of autism and have even teamed up with #WeTackleRare who honored one of their ADNP kids,.
Genie Egerton-Warburton adds to this trifecta of super-parents. She is also a mother of a child with ADNP Syndrome named Rowland. She and Sandra are trying to spread national awareness about ADNP syndrome and other genetic autism syndromes. With the support of Dr. Buxbaum and their team at Mount Sinai, the hope to build awareness of the importance of genetic testing and autism. They call themselves the Laverne and Shirley of ADNP and they are trying to work with anyone they can to raise awareness about genetic causes of autism and have even teamed up with #WeTackleRare who honored one of their ADNP kids,.
Tony Sermone spreading rare disease awareness of ADNP with Seattle Seahawk NFL player Malik Turner
“The majority of parents in the United States do not realize that there could be an actual genetic cause to their child’s autism and developmental delays, and they don’t know why it’s important, this is why we are trying to spread awareness and help others get their children correctly diagnosed”, says Sermone. “There could be a genetic cause like a change on their ADNP gene or one of the other 102 genes. They could find out that it wasn’t caused by vaccines, eating fish while pregnant or anything they did wrong, it could actually be genetic and it might even have a treatment option in the near future”.
ADNP Syndrome is not as rare as you might think, it's prevalence is thought to be approximately 1 in 20,000, yet shockingly, it has only been diagnosed in 250 children worldwide. This for the most part is because of the cost of genetic testing, no one is getting it. “That means there are thousands of children with this disorder, most likely with milder cases and there is an actual genetic cause for their autistic traits, sensory issues, developmental delays, intellectual delays, speech delays, happy demeanor, high pain threshold, sleep and feeding problems. Additionally, ADNP has a very unique biomarker. Children with ADNP have very early tooth eruption, most having a full mouth of teeth with molars by one year old, which is super easy to identidy, so if a child had a full mouth of teeth at 12-13 months old and has/had developmental delays and autism characteristics, they most likely have an ADNP mutation” says Sermone.
“We need to raise awareness about the importance of getting genetic testing if a child has these symptoms and I’m positive if we could share this information that parents, aunts, uncles, teachers, etc. around the country sitting in their living room hearing this might say ‘that sounds just like my child’ and get testing. Thousands of families could get answers for their child’s autism.”
“Could you imagine if there was a treatment option in the future for your child and you didn’t know about it because your child was not diagnosed correctly? Most families I talk to pray day and night for any treatment that could help their child” says Sermone. We need to get out there and tell them why it is so important to get genetic testing and just how easy it is to do.
WE NOW MUST RAISE MONEY TO FUND THIS DRUG TRIAL. WE ARE NOT A ST JUDE, WE DON'T HAVE CELEBRITY ENDORCEMENTS, WE ARE A GRASSROOTS ORGANIZATION RAN BY PARENTS TRYING TO MAKE A DIFFERENCE. BUT WE NEED YOUR HELP, WE NEED YOU TO SHARE OUR STORIES IN ORDER TO HELP OUR CHILDREN. WE CAN'T DO IT ALONE, PLEASE CONSIDER COVERING THIS IMPORTANT STORY.
You can’t have science without people, you can’t have people without stories and you can’t have stories without science.
Sandra Sermone
Founder/President
ADNP Kids Research Foundation
Email | sandra@adnpfoundation.org
Phone | (360) 831-3069
ADDITIONAL INFORMATION:
*Dr. Joseph Buxbaum and Dr. Alex Kolevzon, both Directors at Mount Sinai, as well as Sandra Sermone, Matt Davis and Genie Egerton-Warburton, are all available for interviews.
Additionally, we can obtain video and pictures of other ADNP children if needed.
You can learn more about the ADNP Kids Research Foundation at https://www.adnpfoundation.org/
Dr. Joseph Buxbaum and (See Video Bio Interview)
Dr. Alex Kolevzon at Mount Sinia, (See Video Bio Interview)
Additional information on this CBS National News story (Moms Mission to Find Cure for Sons Rare Disease) Story shows interviews with Sandra Sermone at the Seaver Autism Center Study at Mount Sinai with interview and information from Dr. Joseph Buxbaum.
ADNP Syndrome:
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation or partial deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene. It can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
BELOW PHOTOS
Photos of Tony Sermone, Benjamin Davis, Rolland Egerton-Warburton, and some of the other ADNP syndrome children. We can get many more photos and live video of kids if needed for a story.
ADNP Syndrome is not as rare as you might think, it's prevalence is thought to be approximately 1 in 20,000, yet shockingly, it has only been diagnosed in 250 children worldwide. This for the most part is because of the cost of genetic testing, no one is getting it. “That means there are thousands of children with this disorder, most likely with milder cases and there is an actual genetic cause for their autistic traits, sensory issues, developmental delays, intellectual delays, speech delays, happy demeanor, high pain threshold, sleep and feeding problems. Additionally, ADNP has a very unique biomarker. Children with ADNP have very early tooth eruption, most having a full mouth of teeth with molars by one year old, which is super easy to identidy, so if a child had a full mouth of teeth at 12-13 months old and has/had developmental delays and autism characteristics, they most likely have an ADNP mutation” says Sermone.
“We need to raise awareness about the importance of getting genetic testing if a child has these symptoms and I’m positive if we could share this information that parents, aunts, uncles, teachers, etc. around the country sitting in their living room hearing this might say ‘that sounds just like my child’ and get testing. Thousands of families could get answers for their child’s autism.”
“Could you imagine if there was a treatment option in the future for your child and you didn’t know about it because your child was not diagnosed correctly? Most families I talk to pray day and night for any treatment that could help their child” says Sermone. We need to get out there and tell them why it is so important to get genetic testing and just how easy it is to do.
WE NOW MUST RAISE MONEY TO FUND THIS DRUG TRIAL. WE ARE NOT A ST JUDE, WE DON'T HAVE CELEBRITY ENDORCEMENTS, WE ARE A GRASSROOTS ORGANIZATION RAN BY PARENTS TRYING TO MAKE A DIFFERENCE. BUT WE NEED YOUR HELP, WE NEED YOU TO SHARE OUR STORIES IN ORDER TO HELP OUR CHILDREN. WE CAN'T DO IT ALONE, PLEASE CONSIDER COVERING THIS IMPORTANT STORY.
You can’t have science without people, you can’t have people without stories and you can’t have stories without science.
Sandra Sermone
Founder/President
ADNP Kids Research Foundation
Email | sandra@adnpfoundation.org
Phone | (360) 831-3069
ADDITIONAL INFORMATION:
*Dr. Joseph Buxbaum and Dr. Alex Kolevzon, both Directors at Mount Sinai, as well as Sandra Sermone, Matt Davis and Genie Egerton-Warburton, are all available for interviews.
Additionally, we can obtain video and pictures of other ADNP children if needed.
You can learn more about the ADNP Kids Research Foundation at https://www.adnpfoundation.org/
Dr. Joseph Buxbaum and (See Video Bio Interview)
Dr. Alex Kolevzon at Mount Sinia, (See Video Bio Interview)
Additional information on this CBS National News story (Moms Mission to Find Cure for Sons Rare Disease) Story shows interviews with Sandra Sermone at the Seaver Autism Center Study at Mount Sinai with interview and information from Dr. Joseph Buxbaum.
ADNP Syndrome:
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation or partial deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene. It can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
BELOW PHOTOS
Photos of Tony Sermone, Benjamin Davis, Rolland Egerton-Warburton, and some of the other ADNP syndrome children. We can get many more photos and live video of kids if needed for a story.
