What is Angelman syndrome? Colin Farrell's son has this uncommon condition.

Colin Farrell is establishing a new foundation to increase awareness of Angelman syndrome, which will provide more support and resources for his son and other individuals with the condition as they navigate adulthood.

Farrell, 48, expressed his wish for the world to be kind to his son James ahead of his 21st birthday in September, as shared in People magazine.

"The removal of safeguards and special ed classes leaves young adults without the necessary support to integrate into modern society, resulting in them being left behind more often than not."

What is Angelman syndrome?

Dr. Harry Angelman first described the syndrome in 1965, as per the National Organization for Rare Disorders (NORD).

The Cleveland Clinic states that Parkinson's disease is a nervous system disorder that controls movements, thoughts, and behaviors.

The National Institutes of Health (NIH) states that most cases of disease are caused by a random genetic change during early development, and those affected usually have no family history of the disease.

According to Dr. Issac Molinero, a pediatric neurologist at Ochsner Children's Hospital in New Orleans, Louisiana, Angelman syndrome is a complex neurodevelopmental disorder caused by the loss of function of the UBE3A gene, which is essential for brain development.

According to Molinero, Angelman syndrome results in genetic changes that cause significant challenges, including severe intellectual disability, communication difficulties, and characteristic behavioral patterns such as frequent laughter and smiling.

The pediatric neurologist and director of Angelman Clinic at NYU in New York City, Dr. Dana Price, characterized the disorder as a "spectrum."

She informed Planet Chronicle Digital in an email that her child exhibits low muscle tone, developmental delay, poor gait, seizures ranging from febrile seizures to refractory epilepsy, constipation, poor sleep, and challenging behavior.

Developmental delays

The condition causes delays in development for the children it affects.

According to Cedars Sinai, newborn babies may struggle with latching on or swallowing milk, and as they grow older, they may lose the ability to lift their heads.

They may miss milestones such as sitting up alone, crawling, standing up by themselves, or taking their first steps.

According to the NIH, infants can suffer from microcephaly, a condition where their heads are significantly smaller than other children of the same age.

According to Molinero, developmental delays associated with Angelman syndrome become noticeable between six to twelve months old.

Silence is another hallmark clue, experts say.

According to Cedars Sinai, 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.

Some children may experience seizures at the age of 2 or 3, according to Mayo Clinic.

The rare disorder only affects roughly 500,000 people worldwide.

According to NIH, a typical hallmark of the syndrome is unprovoked fits of laughter, along with frequent smiling and hand-flapping movements.

Most children with the disorder struggle with short attention spans and may also have difficulty sleeping or require less sleep than typical.

As the child grows older, sleep problems typically improve, but speech limitations, intellectual disabilities, and seizures may persist.

According to NORD, people with the condition may not be able to speak, but they can communicate through gesturing and may comprehend simple conversations.

Diagnosis and treatment

Experts say that blood tests are used by doctors to diagnose the condition by looking for the genetic mutation.

According to the Angelman Syndrome Foundation, the syndrome is frequently misdiagnosed due to initial symptoms being mistaken for more well-known conditions such as autism or cerebral palsy.

Experts say that children are often not diagnosed until they are 3 or 4 years old, which means they have already started pre-school.

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

According to Molinero, although there is no cure for Angelman syndrome, proactive early intervention through therapies, educational support, and community resources can significantly improve the quality of life for affected individuals and their families.

Various medications may be prescribed for different symptoms, such as seizures, sleep, mood, reflux, and constipation, at an additional cost.

Individuals with the condition may also undergo therapy to enhance their non-verbal communication, manage hyperactivity, and improve balance.

The Angelman Community is experiencing an exciting time, as drug companies are working to develop precision medicine to activate the missing gene (UBE3A), according to Price.

"Precision medicine through genetic treatment offers a revolutionary approach to treating diseases by targeting the root cause, rather than just the symptoms."

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Individuals with a family member with Angelman Syndrome or those affected themselves can visit the Angelman Clinic or the Angelman Syndrome Foundation's website at https://www.angelman.org.

Planet Chronicle Digital reached out to the Colin Farrell Foundation for comment.