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What Is Angelman Syndrome? Genetic Disorder Inspires Colin Farrell To Start Foundation
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What Is Angelman Syndrome? Everything To Know About The Rare Genetic Disorder Colin Farrell's Son James Has
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The rare neurogenetic disorder affects 1 in 15,000 people
For the first time, Colin Farrell has opened up his home and talked in-depth about life with his son James, who has Angelman syndrome.
James was just a toddler when he was diagnosed with the rare neurogenetic disorder. Now 20, his family still struggles with finding the support that he "deserves and should rightfully have," Farrell, 48, tells PEOPLE in this week's issue.
"I want the world to be kind to James. I want the world to treat him with kindness and respect," the actor says, which has been the driving factor for raising awareness about Angelman syndrome.
"I'm very private," Farrell tells PEOPLE, calling his home a safe space. "But I choose to believe that, if James knew that doing this could help families and could help other children and young adults who live with special needs, James would say, 'Dad, what are you talking about? Why are you even asking me? It's a no-brainer.'"
Angelman syndrome, which affects 1 in 15,000 people, is a rare neurogenetic disorder that stems from a mutation or deletion of a gene in the 15th chromosome, called the ubiquitin protein ligase E3A (UBE3A) gene.
The condition can cause severe developmental delays and is typically first noticed when a baby is not crawling or babbling between 6 and 12 months, according to the Mayo Clinic. It can cause difficulties walking, talking and eating, as well as seizures, balance issues, excessive laughter, sleep troubles, scoliosis and obesity due to limited mobility.
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Courtesy Colin Farrell
Colin Farrell with his son JamesRelated: Colin Farrell Starts Foundation in Honor of Son with Angelman Syndrome as He Opens Up About Their Life (Exclusive)
Angelman syndrome shares symptoms and characteristics with other disorders like autism, cerebral palsy and Prader-Willi syndrome, which is why 50% of individuals are originally misdiagnosed, according to the Angelman Syndrome Foundation.
"Angelman syndrome is not easy to get diagnosed," Paula Evans, CEO of the newly established Colin Farrell Foundation, tells PEOPLE. "It doesn't come up in any prenatal testing, and you have to actually know what you're looking for in order to test for it."
Children who have the disorder are often not diagnosed until they are between 3 and 7 years old. It's confirmed through a genetic blood test. Once officially diagnosed, early intervention is key.
Although there is no cure for Angelman syndrome, treatment for the condition involves managing symptoms and addressing any developmental delays. This can include anti-seizure medications, physical and occupational therapy, speech therapy, behavioral therapy, sleep training or sleep management medications, and more.
For Farrell, doing research and finding a community helped him learn how to best care for his son. James started walking at age 4 and hasn't had a seizure in a decade. He also feeds himself and is able to communicate and show affection, despite being nonverbal.
"With Angelman syndrome, not every child presents the same," he says. "It's a broad spectrum of characteristics that come with the condition, but you can start zoning in on your child so that you can treat your child as an individual under the umbrella of wealth of information that's being gathered pertaining to the condition that they may have."
"Rare disease by its nature means that in your own community, you're probably not going to find somebody that has any shared experience in what you're dealing with," Evans also notes. "So that sense of community and being able to bond and network and share tips and strategies, it's critical."
For more of Farrell's exclusive interview, pick up this week's issue of PEOPLE on newsstands Friday.
The life expectancy of people with Angelman syndrome is normal, but individuals with the condition will require life-long care. However, Farrell explains that with James turning 21 in September, he will age out of many of the support systems provided for families with kids who have special needs.
"Once your child turns 21, they're kind of on their own," he says. "All the safeguards that are put in place, special ed classes, that all goes away, so you're left with a young adult who should be an integrated part of our modern society and more often than not is left behind."
That is, in part, why Farrell is launching the Colin Farrell Foundation to provide support for adult children who have intellectual disabilities through advocacy, education and innovative programs.
The actor has "for years wanted to do something in the realm of providing greater opportunities for families who have a child with special needs, to receive the support that they deserve, basically the assistance in all areas of life," he says.
James, and those like him, have "earned the right to have a greater degree of individuality and autonomy in life, and a greater degree of community."
For more information or learn how you can offer support, visit www.Colinfarrellfoundation.Org.
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Read the original article on People.
What Is Angelman Syndrome? Colin Farrell's Son Is Living With This Rare Disease
Actor Colin Farrell is launching a new foundation to raise awareness of a rare genetic condition called Angelman syndrome, so that his son and others with the disorder will have more support and resources as they transition into adulthood.
"I want the world to be kind to James," Farrell, 48, told People magazine ahead of his son's 21st birthday in September.
"All the safeguards that are put in place, special ed classes — that all goes away, so you're left with a young adult who should be an integrated part of our modern society and, more often than not, is left behind."
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What is Angelman syndrome?The syndrome was first described in 1965 by physician Dr. Harry Angelman, according to the National Organization for Rare Disorders (NORD).
It is a disorder of the nervous system, which helps control movements, thoughts and behaviors, as stated by Cleveland Clinic.
Actor Colin Farrell is launching a new foundation to raise awareness of a rare genetic condition called Angelman syndrome, which affects his son — pictured with Farrell, at right, in 2009. (Getty Images)
Most cases are caused by a random genetic change during early development, which means those who are affected usually have no family history of the disease, the National Institutes of Health (NIH) adds.
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"Angelman syndrome is a complex neurodevelopmental disorder resulting from the loss of function of a specific gene called UBE3A, which plays a crucial role in brain development," Dr. Issac Molinero, pediatric neurologist at Ochsner Children's Hospital in New Orleans, Louisiana, told Fox News Digital.
The genetic changes that occur with Angelman syndrome lead to significant challenges, including severe intellectual disability, communication difficulties and characteristic behavioral patterns, such as frequent laughter and smiling, according to Molinero.
Model Kim Bordenave and actor Colin Farrell, parents of son James Farrell, are pictured at the 75th Annual Academy Awards at the Kodak Theater on March 23, 2003, in Hollywood, California. (Getty Images)
Dr. Dana Price, pediatric neurologist and director of Angelman Clinic at NYU in New York City, described the disorder as a "spectrum."
It can include "low muscle tone, developmental delay, poor gait, seizures (ranging from febrile seizures to refractory epilepsy), constipation, poor sleep and challenging behavior," she told Fox News Digital in an email.
Developmental delaysThe condition causes delays in development for the children it affects.
Newborn babies may have trouble latching on or swallowing milk, and after a few months, they may not be able to lift their heads, according to Cedars Sinai.
They may also miss the milestones of sitting up alone, crawling, standing up by themselves or taking their first steps.
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Infants can develop microcephaly, a condition where their heads are characteristically smaller compared to other children of the same age, per NIH.
"Generally, developmental delays associated with Angelman syndrome will become noticeable around six to 12 months of age," Molinero told Fox News Digital.
Children with the disorder often learn to communicate in other ways, like gesturing, and may be able to understand a simple conversation. (iStock)
Silence is another hallmark clue, experts say.
The baby may be able to say words like "Dada" and follow simple commands, but won't be able to put together complete sentences or have a verbal conversation, according to Cedars Sinai.
At age 2 or 3 years old, some children may start to have seizures, Mayo Clinic notes.
The rare disorder only affects roughly 500,000 people worldwide.
One typical hallmark of the syndrome is unprovoked fits of laughter, along with frequent smiling and hand-flapping movements, according to NIH.
Children with the disorder often have short attention spans, with most having difficulty sleeping or needing less sleep than normal.
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The sleep issues tend to improve as the child gets older, but the limited speech, intellectual disabilities and seizures may continue throughout life.
Although most people with the condition can't speak, they learn to communicate in other ways, such as gesturing, and may be able to understand a simple conversation, according to NORD.
Diagnosis and treatmentDoctors diagnose the condition based on blood tests that look for the genetic mutation, experts say.
The syndrome is often misdiagnosed, as initial symptoms can be confused with more well-known diseases like autism or cerebral palsy, according to the Angelman Syndrome Foundation.
Children are often not diagnosed until they are 3 or 4 years old, when they have already started pre-school. (iStock)
Children are often not diagnosed until they are 3 or 4 years old, when they have already started pre-school, experts say.
The rare disorder only affects roughly 500,000 people worldwide, Molinero noted.
Those with the condition have a normal life expectancy, according to NIH.
Individualized treatment"Although there is no definitive cure for Angelman syndrome, proactive early intervention through therapies, educational support and community resources can significantly enhance the quality of life for affected individuals and their families," Molinero said.
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Depending on symptoms, treatments may include various medications for seizures, sleep, mood, reflux and constipation, Price added.
Those with the disorder may also receive various types of therapy to learn how to communicate non-verbally, to manage hyperactivity and to improve balance. (iStock)
Those with the disorder may also receive various types of therapy to learn how to communicate non-verbally, to manage hyperactivity and to improve balance.
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"This is a very exciting time to work with the Angelman Community, because drug companies are working to develop precision medicine to turn on the missing gene (UBE3A)," Price said.
"Genetic treatment with precision medicine is such a revolutionary prospect — for the first time, we would be treating the disease, not the symptoms."
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Those who have a family member with Angelman Syndrome or are affected themselves can visit an Angelman Clinic or the Angelman Syndrome Foundation's website at https://www.Angelman.Org.
Fox News Digital reached out to the Colin Farrell Foundation for comment.
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