2-8-2020
FOR IMMEDIATE RELEASE:
FOR IMMEDIATE RELEASE:
Parents Find Glimpse of Hope For Treatment of Their Children's Rare Genetic Disorder.
STORY PITCH:
It's a compelling story; parent learns their child has a life threatening rare disease with no cure, though not a scientist, embarks on a quest to find treatment. But most of those stories almost always fail and don't have happy endings because of the difficulty in getting large pharmaceutical companies to grab the very expensive baton of developing a new drug for a small rare disease affecting children.
Still some parents, like Sandra Sermone and Genie Egerton-Warburton, have chosen to take matters into their own hands to help their children who both suffer from a debilitating rare neurological genetic condition called ADNP syndrome, a syndrome linked to intellectual and neurodevelopmental disabilities, speech delays, autism, seizures, low muscle tone, cardiac and brain abnormalities, and is currently diagnosed in less than 250 children in the world.
This advocate-supermom-duo are thinking outside the box. They are racing against time to accelerate drug development for children with ADNP syndrome, and have chosen to embark on the possibly quicker and somewhat less expensive route of repurposed drugs. Repurposed drugs come from investigating existing drugs for new therapeutic purposes, ones that are already FDA approved for another condition.
These moms dove in headfirst. One secured the first comprehensive study of ADNP syndrome at one of the best autism/neurodevelopmental syndrome research centers in the country at Mount Sinai in New York and leads in the fundraising efforts. The other jumped straight into research, became an expert on the syndrome, created a global research network, built a nonprofit foundation and is now maneuvering through the process of drug discovery and development, all in the last few years. They call themselves the Laverne and Shirley of ADNP and their motto is the shows theme song words "we're gonna do it, we're gonna make our dreams come true". Sermone says, "if we can for now, just improve the tiniest thing, and give these kids even a slightly brighter tomorrow than they have today, it will be a dream, but we don't give up, we don't stop until we find a cure".
Currently, there's not one single FDA approved treatment available for children with ADNP Syndrome, and there is no cure. But recently, they have led a team at Mount Sinai to embark on a possible treatment of a repurposed drug; and this all happened in a very unique and surprising way; when they pulled their resources and started working with more parents of children with rare disease.
Through artificial intelligence, the team found a repurposed drug that showed a lot of promise, and just last week, the FDA gave approval to start a clinical trial on that repurposed drug, and they hope the trial will begin in the next few months. Now these moms are in a race against time to raise money for a drug trial that could improve the lives and challenges of the children who suffer with this condition.
Additionally, they want to raise global awareness about their children's rare disorder. Although ADNP Syndrome is a condition that affects many organs and systems of the body, including brain, heart, endocrine, developmental, etc., it recently was identified as one of the top genes linked to autism in the largest genetic study of it's kind. Egerton-Warburton explains, "we are working directly with Dr. Joseph Buxbaum, the lead researcher of that study, and his team at Mount Sinai's Seaver Autism Center for Research and Treatment. We believe there could be thousands and thousands of children who have this genetic variant, and their families have no idea because they have not had genetic testing."
ADNP Syndrome is caused by a non-hereditary genetic change, meaning it was not passed down by either parent, it is new and spontaneous in the child's DNA. Surprisingly, says Sermone, "most families have no idea there could be a genetic cause to some of these very common things we see in kids like autism traits and developmental delays. This can also clear up a lot of the misinformation that many of us are told. I want to get out there and say... Hey, guess what? Autism isn't caused by lunch meat, caffeine or bad parenting, it's not all vaccines; and an important and very unknown component of it is GENETIC, some of which are 'spontaneous' gene mutations that occurred far before you ever drank that Starbucks latte while pregnant."
The good news is, these moms say that children with ADNP mutations have some very easy to identify features in children that can be seen as young as 9-12 months old and it's as simple to identify as a SMILE! Sermone explains, "it's really quite remarkable, 81% of children with ADNP mutations had early tooth eruption, which is a diagnostic biomarker. So at around 7-9 months old, they start popping up baby teeth like crazy and by about 12 months old, they basically have a great big smile full of baby teeth, including molars. In fact, we called our son Baby Shark when he was an infant far before Baby Shark was a song craze." Other features of ADNP include, very happy demeanor, developmental delays, feeding difficulties, speech or intellectual delays, autistic traits like twirling fingers, rocking, spinning, putting everything in mouth, breath holding, disruptive sleep and most kids seem to love direct interaction with adults but not other children.
These Mom's believe that by sharing their story about the unique features of ADNP syndrome and photos of the children who all share the same facial features, families watching will hear/see the story and will stop dead in their tracks and say, "Oh my God, this sounds just like my child". Why is this important to know? Because it is not as rare as previously thought, and children who do have an ADNP mutation may soon have a treatment.
So in honor of Rare Disease Day, these moms are on a mission to raise awareness of this rare genetic disorder called ADNP Syndrome, raise awareness of the importance of genetic testing, and possibly help thousands of other children get diagnosed.
It's a compelling story; parent learns their child has a life threatening rare disease with no cure, though not a scientist, embarks on a quest to find treatment. But most of those stories almost always fail and don't have happy endings because of the difficulty in getting large pharmaceutical companies to grab the very expensive baton of developing a new drug for a small rare disease affecting children.
Still some parents, like Sandra Sermone and Genie Egerton-Warburton, have chosen to take matters into their own hands to help their children who both suffer from a debilitating rare neurological genetic condition called ADNP syndrome, a syndrome linked to intellectual and neurodevelopmental disabilities, speech delays, autism, seizures, low muscle tone, cardiac and brain abnormalities, and is currently diagnosed in less than 250 children in the world.
This advocate-supermom-duo are thinking outside the box. They are racing against time to accelerate drug development for children with ADNP syndrome, and have chosen to embark on the possibly quicker and somewhat less expensive route of repurposed drugs. Repurposed drugs come from investigating existing drugs for new therapeutic purposes, ones that are already FDA approved for another condition.
These moms dove in headfirst. One secured the first comprehensive study of ADNP syndrome at one of the best autism/neurodevelopmental syndrome research centers in the country at Mount Sinai in New York and leads in the fundraising efforts. The other jumped straight into research, became an expert on the syndrome, created a global research network, built a nonprofit foundation and is now maneuvering through the process of drug discovery and development, all in the last few years. They call themselves the Laverne and Shirley of ADNP and their motto is the shows theme song words "we're gonna do it, we're gonna make our dreams come true". Sermone says, "if we can for now, just improve the tiniest thing, and give these kids even a slightly brighter tomorrow than they have today, it will be a dream, but we don't give up, we don't stop until we find a cure".
Currently, there's not one single FDA approved treatment available for children with ADNP Syndrome, and there is no cure. But recently, they have led a team at Mount Sinai to embark on a possible treatment of a repurposed drug; and this all happened in a very unique and surprising way; when they pulled their resources and started working with more parents of children with rare disease.
Through artificial intelligence, the team found a repurposed drug that showed a lot of promise, and just last week, the FDA gave approval to start a clinical trial on that repurposed drug, and they hope the trial will begin in the next few months. Now these moms are in a race against time to raise money for a drug trial that could improve the lives and challenges of the children who suffer with this condition.
Additionally, they want to raise global awareness about their children's rare disorder. Although ADNP Syndrome is a condition that affects many organs and systems of the body, including brain, heart, endocrine, developmental, etc., it recently was identified as one of the top genes linked to autism in the largest genetic study of it's kind. Egerton-Warburton explains, "we are working directly with Dr. Joseph Buxbaum, the lead researcher of that study, and his team at Mount Sinai's Seaver Autism Center for Research and Treatment. We believe there could be thousands and thousands of children who have this genetic variant, and their families have no idea because they have not had genetic testing."
ADNP Syndrome is caused by a non-hereditary genetic change, meaning it was not passed down by either parent, it is new and spontaneous in the child's DNA. Surprisingly, says Sermone, "most families have no idea there could be a genetic cause to some of these very common things we see in kids like autism traits and developmental delays. This can also clear up a lot of the misinformation that many of us are told. I want to get out there and say... Hey, guess what? Autism isn't caused by lunch meat, caffeine or bad parenting, it's not all vaccines; and an important and very unknown component of it is GENETIC, some of which are 'spontaneous' gene mutations that occurred far before you ever drank that Starbucks latte while pregnant."
The good news is, these moms say that children with ADNP mutations have some very easy to identify features in children that can be seen as young as 9-12 months old and it's as simple to identify as a SMILE! Sermone explains, "it's really quite remarkable, 81% of children with ADNP mutations had early tooth eruption, which is a diagnostic biomarker. So at around 7-9 months old, they start popping up baby teeth like crazy and by about 12 months old, they basically have a great big smile full of baby teeth, including molars. In fact, we called our son Baby Shark when he was an infant far before Baby Shark was a song craze." Other features of ADNP include, very happy demeanor, developmental delays, feeding difficulties, speech or intellectual delays, autistic traits like twirling fingers, rocking, spinning, putting everything in mouth, breath holding, disruptive sleep and most kids seem to love direct interaction with adults but not other children.
These Mom's believe that by sharing their story about the unique features of ADNP syndrome and photos of the children who all share the same facial features, families watching will hear/see the story and will stop dead in their tracks and say, "Oh my God, this sounds just like my child". Why is this important to know? Because it is not as rare as previously thought, and children who do have an ADNP mutation may soon have a treatment.
So in honor of Rare Disease Day, these moms are on a mission to raise awareness of this rare genetic disorder called ADNP Syndrome, raise awareness of the importance of genetic testing, and possibly help thousands of other children get diagnosed.
These mothers have been featured on numerous news stories in the past, here are a few of the recent ones:
Sandra Sermone and Genie Egerton-Warburton presenting the Mount Sinai team, including
Dr. Joseph Buxbaum and Dr. Alex Kolevzon, with a check for research.
STORY DETAILS
Just last week, in a landmark genetic study of Autism Spectrum Disorder (CELL Journal), researchers identified the ADNP gene as one of the top genes related to ASD. Interestingly, most of the genes at the top of that list cause 'rare diseases' similar to ADNP Syndrome. But is it really as rare as everyone thinks? Dr. Buxbaum, the lead of that report doesn’t think so. He estimates that 1 in 20,000 could have an ADNP mutation causing autistic traits and/or developmental delays. Yes, I repeat, 1 in 20,000.
But the information on this study and the importance of genetic testing for some reason doesn't seem to make it's way to the millions of families living with these complex disorders. They have no idea that their child or family member could in fact have a genetic variant. "We need these families to hear about some of these genetic disorders like ADNP syndrome and learn about genetic testing, because most families don't sit around reading the 'CELL journal' ", says Sermone.
So why is important to know for this story? Sermone says, "These pharmaceutical companies are far more interested when there are more patients, we know they are out there, we just need to find them. It is very important for research and drug development. We have worked incredibly hard to bring in the first clinical drug trail for treatment for ADNP to Mount Sinai, and that drug could help all of those patients as well as our children".
That drug investigation began last year when Sermone teamed up with another parent of a child with ADNP named Matt Davis, MD, who is a Neurosurgery at University of Alabama Birmingham. The two began their hunt; to find a treatment for their children. They started looking into repurposed drug development after a 2018 peptide trial stalled. During that time, Davis was approached by a fellow UAB researcher, Matt Might, Ph.D., a computer scientist, who also has a child with a rare disease and knows Sermone through her advocacy in the rare disease space. Might was working with artificial intelligence (AI) technology, with hopes to connect patients with possible treatment ideas. Might found some information on a few different compounds, and Sermone and Davis were off to the races!
Davis was able to pull relevant medical publications and compiled data and Sermone started attending biotech and drug development conferences. They researched hundreds of pages of medical literature, contacted and spoke to other scientists and collected relevant data to build a case for low-dose ketamine as quickly as they could. They strongly believe ketamine may help their children. It is already FDA approved safe in children at sedative levels. The ADNP study aims to use a very lose dose of ketamine, because in animal studies, low-dose ketamine has shown to increase ADNP expression. The hope is, if the children have a deficiency in the ADNP protein, this could increase the protein and possibly be therapeutic.
They took their findings to Dr. Buxbaum at Mount Sinai. His team, led by Dr. Alex Kolevzon, 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 to study of ketamine as treatment of ADNP.
"This model of patient-led research, of parents working directly with doctors and researchers is crucial to driving breakthroughs in science. Parents are driven, motivated and full of hope, we want to learn, and we can help accelerate research and innovation if you just let us. Look what we have done so far, flying by the seat of our pants", says Sermone.
STORY DETAILS
Just last week, in a landmark genetic study of Autism Spectrum Disorder (CELL Journal), researchers identified the ADNP gene as one of the top genes related to ASD. Interestingly, most of the genes at the top of that list cause 'rare diseases' similar to ADNP Syndrome. But is it really as rare as everyone thinks? Dr. Buxbaum, the lead of that report doesn’t think so. He estimates that 1 in 20,000 could have an ADNP mutation causing autistic traits and/or developmental delays. Yes, I repeat, 1 in 20,000.
But the information on this study and the importance of genetic testing for some reason doesn't seem to make it's way to the millions of families living with these complex disorders. They have no idea that their child or family member could in fact have a genetic variant. "We need these families to hear about some of these genetic disorders like ADNP syndrome and learn about genetic testing, because most families don't sit around reading the 'CELL journal' ", says Sermone.
So why is important to know for this story? Sermone says, "These pharmaceutical companies are far more interested when there are more patients, we know they are out there, we just need to find them. It is very important for research and drug development. We have worked incredibly hard to bring in the first clinical drug trail for treatment for ADNP to Mount Sinai, and that drug could help all of those patients as well as our children".
That drug investigation began last year when Sermone teamed up with another parent of a child with ADNP named Matt Davis, MD, who is a Neurosurgery at University of Alabama Birmingham. The two began their hunt; to find a treatment for their children. They started looking into repurposed drug development after a 2018 peptide trial stalled. During that time, Davis was approached by a fellow UAB researcher, Matt Might, Ph.D., a computer scientist, who also has a child with a rare disease and knows Sermone through her advocacy in the rare disease space. Might was working with artificial intelligence (AI) technology, with hopes to connect patients with possible treatment ideas. Might found some information on a few different compounds, and Sermone and Davis were off to the races!
Davis was able to pull relevant medical publications and compiled data and Sermone started attending biotech and drug development conferences. They researched hundreds of pages of medical literature, contacted and spoke to other scientists and collected relevant data to build a case for low-dose ketamine as quickly as they could. They strongly believe ketamine may help their children. It is already FDA approved safe in children at sedative levels. The ADNP study aims to use a very lose dose of ketamine, because in animal studies, low-dose ketamine has shown to increase ADNP expression. The hope is, if the children have a deficiency in the ADNP protein, this could increase the protein and possibly be therapeutic.
They took their findings to Dr. Buxbaum at Mount Sinai. His team, led by Dr. Alex Kolevzon, 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 to study of ketamine as treatment of ADNP.
"This model of patient-led research, of parents working directly with doctors and researchers is crucial to driving breakthroughs in science. Parents are driven, motivated and full of hope, we want to learn, and we can help accelerate research and innovation if you just let us. Look what we have done so far, flying by the seat of our pants", says Sermone.
SandraSermone and Dr. Alex Kolvezon/Mount Sinai, Dr. Raphael Bernier/Seattle Children’s Hospital and
Dr. Illana Gozes/Tel Aviv University, at a NAP pre-IND meeting at the FDA offices in D.C.
“Our children with this syndrome need treatments now! They suffer every day. This isn’t the gifted type of autism that you see on TV, my son is never going to be a doctor. Instead, he is like an infant trapped in a 12 year old body, he has wicked intellectual and developmental delays, he is non verbal, his brain is shrinking, and he keeps loosing skills. It’s beyond heartbreaking and not at all the life we hoped for our son. But this is bigger than him now, because now we have 250 kids and possibly thousands more that we need to help. If we can for now, just improve the tiniest thing and give these kids even a slightly brighter tomorrow than they have today, it will be a dream; but we don't give up, we don't stop until we find a cure", says Sermone.
MEET THE MOMS:
Sandra Sermone is the mother of Tony, a 12 year old boy from Brush Prairie, Washington. Just five short years ago, Tony was one of the very first children in the world diagnosed with ADNP Syndrome months after it’s discovery. It was a long and difficult road to find answers, searching for 6 years. At the time, the syndrome was so new that it didn’t even have a name and very little was known about it. After Tony was diagnosed, Sandra came home armed with the one and only publication that existed on the syndrome. She dove in head first into research and began searching and working with scientists from around the world and started building her research team. She has pioneered nearly everything informational that exists for ADNP syndrome; she created the first parent support group to find and connect families, built a strong international ADNP community, created ADNPkids.com, which is the worlds first ADNP syndrome information website, and founded the ADNP Kids Research Foundation. She is not a doctor, but she built her own parent generated patient registry, joined forces to partner in larger studies and conducted her own research. She was so successful that she made the discovery of the very first diagnostic biomarker of ADNP syndrome. Because of her successful research and collaborations, she has been a co-author on 5 medical publications.
Sandra Sermone is the mother of Tony, a 12 year old boy from Brush Prairie, Washington. Just five short years ago, Tony was one of the very first children in the world diagnosed with ADNP Syndrome months after it’s discovery. It was a long and difficult road to find answers, searching for 6 years. At the time, the syndrome was so new that it didn’t even have a name and very little was known about it. After Tony was diagnosed, Sandra came home armed with the one and only publication that existed on the syndrome. She dove in head first into research and began searching and working with scientists from around the world and started building her research team. She has pioneered nearly everything informational that exists for ADNP syndrome; she created the first parent support group to find and connect families, built a strong international ADNP community, created ADNPkids.com, which is the worlds first ADNP syndrome information website, and founded the ADNP Kids Research Foundation. She is not a doctor, but she built her own parent generated patient registry, joined forces to partner in larger studies and conducted her own research. She was so successful that she made the discovery of the very first diagnostic biomarker of ADNP syndrome. Because of her successful research and collaborations, she has been a co-author on 5 medical publications.
Genie Egerton-Warburton is a mother of a boy named Rowland from New York, who was also diagnosed with ADNP Syndrome. Rowland was the 54th child diagnosed and when he was, Genie immediately found and connected with Sandra and said that she wanted to help. Genie jumped in full speed and joined the ADNP Kids Research Foundation as the Vice President. She put her years of past PR experience to use and pulled her resources. She immediately started fundraising and contacted a friend who sits on the Board of Mount Sinai in New York who highly recommended their autism research center. Having the same mindset to get involved with driving research, Genie went out and took the initiative to go after Mount Sinai, which houses some of the countries best genetic autism research specialists at the Seaver Autism Center for Research and Treatment and she convinced them to work on ADNP. Together, with the foundation, they started a groundbreaking study for ADNP Syndrome in 2018 that only two short years later has exceeded their expectations. “We would never have found the Seaver Autism Center if it were not for Genie and her husband” said Sermone.
Genie and Sandra are now on a mission to spread national awareness about ADNP syndrome and other genetic autism syndromes. With the support of Dr. Buxbaum and his team at Mount Sinai, they hope to build awareness of the importance of genetic testing.
They call themselves the “Laverne and Shirley of ADNP”, because the shows opening song ‘Give us any chance we'll take it, read us any rule we'll break it, we're going to make our dreams come true,’ is their theme song. "'Never heard the word impossible, this time, there’s no stopping us, we're gonna do it.’ is how we think and operate", says Genie Egerton-Warburton.
Genie and Sandra are now on a mission to spread national awareness about ADNP syndrome and other genetic autism syndromes. With the support of Dr. Buxbaum and his team at Mount Sinai, they hope to build awareness of the importance of genetic testing.
They call themselves the “Laverne and Shirley of ADNP”, because the shows opening song ‘Give us any chance we'll take it, read us any rule we'll break it, we're going to make our dreams come true,’ is their theme song. "'Never heard the word impossible, this time, there’s no stopping us, we're gonna do it.’ is how we think and operate", says Genie Egerton-Warburton.
Genie and Sandra at UCLA ADNP Conference
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Laverne & Shirley stock photo
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They also work with other organizations such as Autism Speaks, the Simons Foundation SPARK project, and the National Organization of Rare Disorders. They fly around the country educating other research and genetic teams about ADNP, and they have even teamed up with unique groups like Global Genes and Uplifting Athletes #WeTackleRare, who honored one of their ADNP kids for the NFL event 'My Cleats My Cause' to bring awareness of rare disease. This February, Sermone will be in D.C. for Rare Disease Week and a visit to the NIH, to advocate for ADNP syndrome and rare disease research.
Tony Sermone spreading rare disease awareness of ADNP with Seattle Seahawk NFL player Malik Turner
"This is a topic that affects millions of people, and like us prior to our children's diagnosis, we had no idea that a genetic mutation could cause something this profound” says Egerton-Warburton. She goes on to say, “we are positive, that if we could share this information, that parents, aunts, uncles, teachers, etc. around the country sitting in their living room watching our story might say ‘that sounds just like my child’ and get genetic testing. Thousands of families could get answers for their child’s autism and delays”.
You can’t have science without people, you can’t have people without stories and you can’t have stories without science.
These moms are the people, they are telling their story and they are pushing science!
*PHOTOS BELOW
CONTACT:
Sandra Sermone
CEO/President, ADNP Kids Research Foundation
[email protected]
Genie Egerton-Warburton
Vice President, ADNP Kids Research Foundation
[email protected]
ADNP Kids Research Foundation is an IRS accredited 501(c)3 non profit organization based out of Washington.
WEBSITE: www.adnpfoundation.org
These moms are the people, they are telling their story and they are pushing science!
*PHOTOS BELOW
CONTACT:
Sandra Sermone
CEO/President, ADNP Kids Research Foundation
[email protected]
Genie Egerton-Warburton
Vice President, ADNP Kids Research Foundation
[email protected]
ADNP Kids Research Foundation is an IRS accredited 501(c)3 non profit organization based out of Washington.
WEBSITE: www.adnpfoundation.org
ADDITIONAL INFORMATION:
*Dr. Joseph Buxbaum and Dr. Alex Kolevzon with Mount Sinai are both available for interviews regarding this story. Additional photos and video can also be shared.
RECENT NEWS RELEVANT TO THIS STORY: Just last week, in the largest genetic sequencing study of autism spectrum disorder to date (CELL Journal), researchers identified 102 genes associated with risk for autism. The landmark study was led by Joseph Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment at Mount Sinai, through an NIH-funded international Autism Sequencing Consortium. He calls it a “profound neurobiological advance”.
One of these genes, the ADNP gene, has been identified to be one of the top single genes related to autism and neurodevelopmental dysfunction in that report. A change in the ADNP gene causes a complex and rare disorder called ADNP Syndrome. About one half of the genes outlined in this study cause genetic autism neurodevelopmental disorders.
ADNP SYNDROME:
ADNP Syndrome is an extremely rare neurodevelopmental genetic disorder caused by a change on the ADNP gene (one of the genes identified in the landmark study noted above), which is a master brain gene that affects brain formation, connectivity, development and function. It also regulates over 400 other genes and affects many different organs and functions of the body. This debilitating syndrome can cause problems with almost all systems of the body. Developmentally, it can cause delays in cognition, speech and global motor planning. ADNP is highly linked to autism as one of the top autism related genes. However, most children who are less affected have never had genetic testing and their families have no idea that there could be a genetic cause for their child’s autism or developmental delays.
*Dr. Joseph Buxbaum and Dr. Alex Kolevzon with Mount Sinai are both available for interviews regarding this story. Additional photos and video can also be shared.
RECENT NEWS RELEVANT TO THIS STORY: Just last week, in the largest genetic sequencing study of autism spectrum disorder to date (CELL Journal), researchers identified 102 genes associated with risk for autism. The landmark study was led by Joseph Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment at Mount Sinai, through an NIH-funded international Autism Sequencing Consortium. He calls it a “profound neurobiological advance”.
One of these genes, the ADNP gene, has been identified to be one of the top single genes related to autism and neurodevelopmental dysfunction in that report. A change in the ADNP gene causes a complex and rare disorder called ADNP Syndrome. About one half of the genes outlined in this study cause genetic autism neurodevelopmental disorders.
ADNP SYNDROME:
ADNP Syndrome is an extremely rare neurodevelopmental genetic disorder caused by a change on the ADNP gene (one of the genes identified in the landmark study noted above), which is a master brain gene that affects brain formation, connectivity, development and function. It also regulates over 400 other genes and affects many different organs and functions of the body. This debilitating syndrome can cause problems with almost all systems of the body. Developmentally, it can cause delays in cognition, speech and global motor planning. ADNP is highly linked to autism as one of the top autism related genes. However, most children who are less affected have never had genetic testing and their families have no idea that there could be a genetic cause for their child’s autism or developmental delays.
Really easy to understand BLOG explaining genetic mutations and the rarity of the disease:
How My Son Won The Mega Million Lottery Jackpot of Rare Disease.
How My Son Won The Mega Million Lottery Jackpot of Rare Disease.
PHOTOS
Photos below Tony Sermone, Benjamin Davis, Rolland Egerton-Warburton, and some of the other ADNP syndrome children from the ADNPkids.com website. We can get many more photos and live video of kids if needed for a story.
IF YOU SUSPECT THAT YOUR CHILD OR FAMILY MEMBER MAY HAVE ADNP SYNDROME, PLEASE TALK TO THEIR DOCTOR ABOUT GENETIC TESTING.
ADNP has been put on smaller genetic panels which are much less expensive than whole exome or whole genome sequencing.
Two US based labs that offer full tests or panels are Ambry Genetics and GeneDx, both seem to be used at most accademic and children's hospitals.
GENE DX AUTISM XPANDED PANEL
GENE DX AUTISM/ID PANEL
AMBRY GENETICS MULTIPLE PANEL
ADNP has been put on smaller genetic panels which are much less expensive than whole exome or whole genome sequencing.
Two US based labs that offer full tests or panels are Ambry Genetics and GeneDx, both seem to be used at most accademic and children's hospitals.
GENE DX AUTISM XPANDED PANEL
GENE DX AUTISM/ID PANEL
AMBRY GENETICS MULTIPLE PANEL
