Health
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.
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.
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 delays
The 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.
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 treatment
Doctors 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, 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.
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.
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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.
Health
J. Robin Warren, Who Proved That Bacteria Cause Ulcers, Dies at 87
Dr. J. Robin Warren, an Australian pathologist who shared a Nobel Prize for discovering that most stomach ulcers were caused by the bacterium Helicobacter pylori — and not, as had been widely believed, stress, alcohol or spicy foods — died on July 23 in Inglewood, Australia. He was 87.
His death, at a care home, was announced by the University of Western Australia in Perth, where he was an emeritus professor for many years. His daughter-in-law Gigi Warren said the cause was complications after a recent fall.
In 1984, Dr. Warren and his collaborator, the gastroenterologist Barry Marshall, published a paper in the British medical journal The Lancet describing their finding that the spiral-shaped bacterium now commonly called H. pylori festered in the stomachs of patients with ulcers and gastritis. Dr. Warren had first noticed the bacterium on a gastric biopsy sample in 1979.
The paper’s conclusion upended centuries of conventional wisdom about the cause of ulcers. (Psychoanalysts had even written of the “peptic ulcer personality.”) Doctors typically prescribed stress reduction, a bland diet and, starting in 1977, drugs like Tagamet and Zantac to tame the burning acids. Severe cases were sometimes treated with surgery.
When the study was published, gastroenterologists were skeptical. They expressed concern about whether to trust potentially paradigm-shifting findings made by two unknown researchers in Australia. And the idea that bacteria could even grow in the stomach was considered blasphemy.
“For about 100 years, or 1,000 years, the standard teaching in medicine was that the stomach was sterile and nothing grew there because of corrosive gastric juices,” Dr. Warren told The New York Times in 2005 after he and Dr. Marshall won the Nobel Prize in Physiology or Medicine. “So everybody believed there were no bacteria in the stomach. When I said they were there, no one believed it.”
The study was also at odds with the marketing done by pharmaceutical companies, which had spent millions of dollars developing acid reduction drugs. Those medicines cleared up ulcers, but the condition often returned again and again. Dr. Warren and Dr. Marshall’s work suggested that antibiotics would be a more effective treatment.
“The prospect that antibiotics might cure ulcers was a serious threat to the world record profitability of the recently developed wonder drugs that stopped the secretion of gastric acid and healed ulcers rapidly,” Dr. William S. Hughes wrote in “The Great Ulcer War” (2014), a history of the Australian duo’s fight over proving that H. pylori caused ulcers.
Fed up with the skepticism and pushback after their paper was published, Dr. Marshall had a rather unconventional idea: infecting themselves with H. pylori.
“I didn’t like that idea at all,” Dr. Warren later said, “so I think I just said no.”
But Dr. Marshall went through with it, gulping down a broth of the bacterium. A few days later, he became severely ill with gastritis — the precursor to an ulcer.
That still wasn’t enough proof. It would take almost a decade for physicians to finally accept the findings and change how they treated ulcers: with antibiotics, just as they would treat any other bacterial infection.
“Now there is the possibility of curing the condition, which was unthought of before,” Hugo Gallo-Torres, a Food and Drug Administration official, said in 1994, adding, “We had treated ulcers with anti-secretory compounds for so many years, it was hard to accept that a germ, a bacterium, would produce a disease like that.”
John Robin Warren was born on June 11, 1937, in North Adelaide, Australia. His father, Roger, studied viticulture and was a winemaker. His mother, Helen (Verco) Warren, was a nurse who had dreams of becoming a doctor but couldn’t afford medical school.
He studied medicine at the University of Adelaide, graduating in 1961. He wanted to specialize in psychiatry, but he wasn’t accepted into the residency program. He chose clinical pathology instead, committing himself to a solitary life staring into a microscope.
“In practice, ‘Clinical Pathology’ meant mainly laboratory hematology, which I thoroughly enjoyed,” Dr. Warren wrote in his Nobel autobiography. “Although the usual work entailed reporting on blood smears and bone marrow, we had a wide range of other tasks, including examining feces for parasites, examining urine and testing skin and nails for fungus.”
In 1968, he became a pathologist at Royal Perth Hospital, which is affiliated with the University of Western Australia.
“He was a bit eccentric,” Dr. Marshall said in an interview. “You’re a pathologist living down in the basement there, cutting up dead bodies and that. So you didn’t have to be a people person really to succeed at that job.”
What Dr. Warren did have was a kind of scholarly stubbornness.
“He’s uninfluenced by other people’s opinions,” Dr. Marshall said, adding that even when colleagues laughed at their attempts to prove H. pylori caused ulcers, “as far as he’s concerned, that was the facts. And if you didn’t believe it, it’s because you were just incompetent or something.”
Dr. Warren married Winifred Williams, a psychiatrist, in 1962. She died in 1997. They had five children. (Complete information on survivors was not immediately available.)
At the outset of Dr. Warren’s obsession with H. pylori, his wife was among the few people in his life not to deem him crazy — though she was certainly qualified to do so.
“Before I met Barry, Win was the only person to accept my work and encourage me,” he wrote in his Nobel autobiography. “As a psychiatrist, she could have suggested I was mad. But she stood beside me and helped me when no one else would.”
Health
Atlanta couple’s conjoined twin daughters, fused at the heart, lived for just 1 hour: ‘Gift from God’
Breana Dell was only able to hold her newborn twins, Amelia Jane and Elhora Auri, for just one hour after they were born on Feb. 29 — but every minute was filled with “peace” and “awe,” she said.
Three months before that, at 17 weeks of pregnancy, she and her husband, Matthew Dell, had gotten an ultrasound to learn the gender of what they thought was one baby.
The Atlanta couple was shocked to discover the single heartbeat on the monitor was shared by two girls. The conjoined twins were fused at the torso.
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“Everything changed in that moment,” Dell, 24, a stay-at-home mom, told Fox News Digital during a phone interview.
“I started to panic and cry.”
Doctors told the couple there was little-to-no chance of separating the twins — which meant there would be little-to-no chance of their survival.
“Because of how their heart was conjoined, it would just be too complicated,” Dell said.
The couple saw numerous specialists for MRIs and other exams.
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“It was lots and lots of appointments, in hopes that they would be wrong and that something could be done — but it didn’t work out that way,” Dell said.
The month before the twins were born, a cardiologist confirmed that there would be no way of separating the twins, and they would probably not survive.
The Dells focused on preparing for delivery and all the different outcomes they might face.
“Their heart literally was one unit,” Dell said. “I got the question a lot: ‘Can’t you just save one of them?’ It wasn’t possible, because they couldn’t live without each other.”
With that tough news, the Dells focused on preparing for delivery and all the different outcomes they might face.
“Northside Hospital [in Atlanta] was amazing,” Dell said. “They were so kind and considerate of our situation and our family.”
‘Never lost hope’
Dell, who already had a 1-year-old son, Dallas, was offered the choice of having an abortion — but she said it was “never even a thought.”
“Our thought process was always, ‘What can we do to save them and keep them,’” she said.
“Our faith was the biggest factor in the decision we made.”
“Our faith was the biggest factor in the decision we made,” she added. “I don’t know how anybody could get through a situation like that without having faith.”
Despite the twins’ prognosis, Dell said, she believes they were a gift from God who came to them for a reason.
“When I was first told that they were conjoined, it was just this bubble of devastation, sadness, confusion, uncertainty and fear,” she recalled.
“But nobody can predict the future perfectly, and you just never know what the outcome will be.”
As the pregnancy progressed, however, Dell said she faced tough emotional struggles.
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“I had severe anxiety attacks,” she said. “I knew what the outcome would be — but you can’t really prepare yourself for that.”
She went on, “Toward the end of my pregnancy, I had severe brain fog, my stomach was in knots, and I knew my body was trying to tell me, ‘Hey, you’re not OK.”
‘A sense of peace’
Amelia Jane Dell and Elhora Auri Dell were born on Feb. 29 at 7:37 a.m.
They each weighed 3.5 pounds.
The girls came into the world the same way they had appeared in the later ultrasounds — with their arms wrapped around each other.
“It was actually really sweet the way they were conjoined — they were holding each other from the moment they were alive, just in a big hug,” Dell said.
“Just to know that they were there, and that I held them alive, brought a sense of peace.”
“It was amazing to see how their little bodies were still working,” she went on.
“They didn’t move a whole lot or open their eyes — but just to know that they were there, and that I held them alive, brought a sense of peace … I couldn’t imagine not getting to meet them.”
What to know about conjoined twins
Conjoined twins are rare, occurring in one of every 50,000 to 200,000 births, statistics show.
The condition results from a single fertilized egg dividing into two embryos more than 13 days after fertilization, according to StatPearls, a medical resource on the U.S. National Library of Medicine’s website.
They are about three times more likely to affect female babies than males.
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“The classification of conjoined twins is based on the location of their connection and the organs they share,” Dr. Marschall Runge, MD, PhD, CEO of Michigan Medicine — who did not treat Dell or the babies — told Fox News Digital.
“Survival rates vary significantly depending on the ability to successfully separate shared organs.”
Twins who share a heart or components of the brain have the highest mortality rates, the doctor noted.
“Even if they survive the initial separation, many face long-term health challenges and may require additional surgeries,” Runge said.
The overall survival rate for conjoined twins after separation is approximately 75%, but this can vary greatly depending on several factors, according to the doctor.
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A majority of conjoined twins (28%) are fused at the thorax (torso) and abdomen, StatPearls states.
Another 18.5% are joined at the thorax and 10% are joined at the abdomen.
In 10% of cases, there is a heteropagus (parasitic twin), in which one twin is less developed than the other.
In 6% of cases, the twins are joined at the cranium.
Lifted by support
Throughout their journey, the Dells said they received a great deal of support from their family, friends and church, as well as people reaching out on social media.
“We have an amazing church family that has surrounded us in love and prayers,” Dell said.
She also created a Facebook page for the girls, where people rallied around the family and sent messages of encouragement and love.
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After their time with the babies came to an end, the Dells were faced with a long road to healing and recovery.
“It comes and goes,” Dell said. “Sometimes I feel OK, and then I’ll have really hard moments, hard days or even hard weeks.”
She also said, “I definitely miss my babies.”
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The Dells are planning to grow their family in the future.
“We definitely want more children,” Dell told Fox News Digital.
A previous conjoined twin pregnancy does not increase the risk of a recurrence, according to StatPearls.
Fox News Digital reached out to Northside Hospital in Atlanta for comment.
Health
Shed Up to 15 Pounds in a Week With This Easy Twist on the Water Detox
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