Actor Colin Farrell is launching a new foundation to raise awareness about a rare creature. Genetic Condition He said he is living with Angelman syndrome so his son and others with the disorder can have more support and resources as they enter adulthood.
“I want the world to be kind to James,” Farrell, 48, said. People Magazine ahead of her son’s 21st birthday in September.
“All safety measures have been implemented, Special education classes – all of that comes to an end, and you’re left with a young adult who should be an integrated part of our modern society, and often ends up getting left behind.”
What is Angelman syndrome?
According to the National Organization for Rare Disorders (NORD), the syndrome was first described by physician Dr. Harry Angelman in 1965.
It is a disorder Nervous systemAccording to the Cleveland Clinic, it is a type of exercise that helps control movements, thoughts and behaviors.
Actor Colin Farrell is launching a new foundation to raise awareness of a rare genetic condition called Angelman syndrome, which affects his son – pictured at right with Farrell in 2009. (Getty Images)
The National Institutes of Health (NIH) say that most cases are caused by random genetic mutations during early development, meaning those affected usually have no family history of the disease.
Stiff person syndrome patients reveal what it’s like to live with this rare disease
“Angelman syndrome is a complex neurodevelopmental disorder caused by loss of function of a specific gene called UBE3A, which plays a critical role in brain development,” said Dr. Isaac Molinaro. Pediatrician neurologist At Ochsner Children’s Hospital in New Orleans, Louisiana, Dr.
According to Molinaro, the genetic changes that cause Angelman syndrome lead to serious challenges, including severe intellectual disability, communication difficulties and distinctive behavior patterns, such as frequent laughing and smiling.
Model Kim Bordenave and actor Colin Farrell, parents to his son James Farrell, attend the 75th Annual Academy Awards at the Kodak Theatre on March 23, 2003 in Hollywood, California. (Getty Images)
Dr. Dana Price, a pediatric neurologist and director of the Angelman Clinic at NYU in New York City, described the disorder as a “spectrum.”
This can include “low muscle tone, developmental delay, poor gait, seizures (ranging from febrile seizures to refractory epilepsy), constipation, poor sleep “This is challenging and disturbing behavior,” he told Fox News Digital via email.
developmental delays
This condition causes delayed development in affected children.
Newborn Baby According to Cedars Sinai, babies may have trouble drinking or swallowing milk, and after a few months, they may not be able to hold their heads up.
They may also miss important milestones such as sitting alone, crawling, standing on their own, or taking their first steps.
The girl who couldn’t smile: how a rare disorder became one young woman’s ‘greatest gift’
According to the NIH, babies may develop microcephaly, a condition in which their head is smaller than that of other babies of the same age.
“In general, developmental delays associated with Angelman syndrome become noticeable around six to 12 months of age,” Molinaro told Fox News Digital.
Children with this disorder often learn to communicate in other ways, such as gesturing, and may be able to understand simple conversations. (iStock)
Experts say silence is another typical sign.
According to Cedars Sinai, the baby may be able to say words such as “dada” and follow simple commands, but will not be able to form complete sentences or have verbal conversations.
Some children may begin having seizures as early as age 2 or 3, the Mayo Clinic says.
This rare disorder affects approximately 500,000 people worldwide.
Its distinctive feature is that Syndrome According to the NIH, this symptom is characterised by bouts of unprovoked laughter, as well as frequent smiling and hand flapping.
Children with this disorder often have a short attention span and, more often than not, are unable to concentrate. Difficulty sleeping Or needing less sleep than usual.
Sleep problems tend to improve as the child grows older, but limited speech, intellectual disability, and seizures may persist for life.
Although most people with the disease cannot speak, they learn to communicate in other ways, such as gesturing, and may be able to understand simple conversations, according to NORD.
Diagnosis and treatment
Experts say doctors diagnose the disease based on a blood test that checks for genetic mutations.
This syndrome is often misdiagnosed, as the initial symptoms may be confused with more well-known diseases Like autism According to the Angelman Syndrome Foundation, it may be caused by cerebral palsy or cerebral palsy.
Children often aren’t diagnosed until age 3 or 4, when they start attending pre-school. (iStock)
Experts say the disease often isn’t diagnosed in children until age 3 or 4, when they start attending pre-school.
The rare disorder affects about 500,000 people worldwide, Molinaro said.
According to the NIH, people with this condition have a normal life expectancy.
individual treatment
“Although there is no definitive cure for Angelman syndrome, early intervention through treatment, educational support and community resources can significantly improve the quality of life for affected individuals and their families,” Molinaro said.
Click here to get the Fox News app
Depending on the symptoms, treatment may include the following: Various medications Price said the drug is effective for seizures, sleep, mood, reflux and constipation.
People suffering from this disorder may also be given various types of therapy to communicate non-verbally, control hyperactivity, and improve balance. (iStock)
People suffering from this disorder can also get this medicine Different types of therapy Learning to communicate non-verbally, manage hyperactivity, and improve balance.
Click here to sign up for our health newsletter
“This is a very exciting time to work with the Angelman community, as pharmaceutical companies are working to develop precision medicines to activate the missing gene (UBE3A),” Price said.
“Genetic treatment by precision medicine is a revolutionary possibility – for the first time, we will be treating the disease, not just its symptoms.”
For more health articles, visit here www.foxnews/health
People who have a family member with Angelman syndrome or are affected themselves can visit the Angelman Clinic or the Angelman Syndrome Foundation website at https://www.angelman.org.
Fox News Digital has reached out to the Colin Farrell Foundation for comment.
