(CNN) – After Robin Williams died by suicide in August 2014, his widow, Susan Schneider Williams, would soon learn about a disease she had never heard of, but one that had haunted both of their lives.
That disease is Lewy body dementia, with which the actor was diagnosed in October 2014 following an autopsy on his brain. “A few months before he passed, he was given a Parkinson’s (disease) diagnosis,” said Schneider Williams, an artist and advocate for LBD awareness and research, at the Life Itself conference, a health and wellness event presented in partnership with CNN. “But that was just the tip of the iceberg.”
The misdiagnosis occurred in May 2014 after Robin had been experiencing severe memory, movement, personality, reasoning, sleep and mood changes.
The comedian had undergone multiple tests to identify his problem, most of which were negative. “None of the doctors knew that there was this ghost disease underlying all of this,” Schneider Williams told CNN in an interview. “When that was revealed, that was like essentially finding out the name of my husband’s killer.”
Dementia is a disorder of mental processes marked by memory dysfunction, personality changes and impaired reasoning due to brain disease or injury. The exact cause of LBD, which affects about 1.4 million Americans, is unknown. But the disease is associated with the accumulation of the protein alpha-synuclein, which is typically present in the brain and in small amounts in the heart, muscle and other tissues. Alpha-synuclein might help regulate neurotransmitters. But when this protein accumulates and forms masses (called Lewy bodies) within the brain, the effects are devastating.
Lewy body dementia and Parkinson’s disease dementia are the two types of Lewy body dementias, which are the second most common form of dementia after Alzheimer’s disease, according to the Lewy Body Dementia Association.
Because LBD initially presents similarly to Alzheimer’s or Parkinson’s disease, it’s often misdiagnosed. And since Lewy body proteins can’t be tested like Alzheimer’s proteins, LBD cases are often diagnosed after death when families request autopsies for closure or more details, or to donate a loved one’s brain for research.
Typically for undiagnosed LBD patients who initially exhibit movement issues, doctors first diagnose them with Parkinson’s disease since it is a movement disease. If those patients later develop dementia as well, they are often diagnosed with Parkinson’s disease dementia. More specific changes in cognitive function, too, over time can lead to the diagnosis “dementia with Lewy bodies.” Although Lewy bodies are common with Parkinson’s disease, not all Parkinson’s patients will develop LBD.
Misdiagnosis and overlapping symptoms can lead to a world of confusion for patients and their families, so for Schneider Williams, finally learning the truth behind her husband’s “pain and suffering” was a “pinprick of light,” she said.
“That’s when my own healing started to begin,” she said. “We had this experience with something that was invisible and terrifying, truly. And then on the other side of it, I’m left to find out the science underneath it that helped explain this experience. Robin wasn’t crazy. That was one of his biggest fears.”
So that other patients and caregivers can experience the same truth, understanding and healing, Schneider Williams has been in a “rabbit hole of discovery” and advocacy for eight years now. She has served on the board of the American Brain Foundation for six years, helped establish the Lewy Body Dementia Fund and its $3 million research grant award aimed at finding an accurate biomarker, and contributed to the documentaries “Robin’s Wish” and “Spark: Robin Williams and His Battle with Lewy Body Dementia.”
“I couldn’t live with myself if I didn’t tell this story,” Schneider Williams said. “I had no idea the journey I was about to begin on. But I had to go there.”
Doctors and researchers wanting to mitigate the kinds of experiences her husband endured “have a tall order,” she said, “but progress is being made.”
‘Chemical warfare in his brain’
Lewy body dementia has more than 40 symptoms that can randomly appear and disappear, Schneider Williams said. Categorically, the signs include impaired thinking, fluctuations in attention, problems with movement, visual hallucinations, sleep disorders, behavioral and mood issues, and changes in bodily functions such as the ability to control urinating.
What “marked the beginning of a cascade of symptoms” was when her husband started experiencing never-ending fear and anxiety, Schneider Williams said. It began to happen in 2012 when Williams started to pull back from engaging with people at the Throckmorton Theatre in California, where he would try new material out and riff with other comedians just for fun, she added.
The anxieties persisted beyond what Williams had experienced in the past and what is normal for a beloved actor living with the pressures of being on a world stage.
Eventually, paranoia was another significant symptom, Schneider Williams said. “It was the amygdala region of his brain that had a ginormous amount of the Lewy bodies. So that area of the brain is really our ability to regulate our emotions, particularly fear and anxiety. And Robin’s was basically broken.”
Toward the end, Williams also experienced delusional looping. “Your brain is concocting a story of what you think reality is,” Schneider Williams said. “And the people around you are unable to rationalize with you and bring you back into what is actually real. So it’s incredibly scary for everyone around someone who’s deluded as well as the deluded person.
“As a caregiver, you feel incredibly powerless when you realize, ‘Oh my gosh, nothing I say or do anymore can bring him back to what’s real.’ And that’s a very scary place,” she said. “Lewy body — it really takes over.”
Williams was stressed by work, his sudden forgetfulness and changing personality, and insufficient sleep — which progressed to severe insomnia that removed the separation between day and night in the couple’s home. “Our house was like ‘Night at the Museum’ at night,” Schneider Williams said. Pulling him back from nighttime delusions would take hours, sometimes days, she added. “Imagined fear on fire — that is what it is.”
Hallucinations are “a key hallmark of LBD that can really help in identifying the disease,” Schneider Williams said, but also a tough symptom many LBD patients don’t want to discuss. She didn’t know about her husband’s hallucinations until her conversation with a medical professional who had reviewed his medical records. A delusion involves a storyline with people who can deconstruct it for you — but a hallucination is something only you see and therefore is easier to hide.
“Lewy body is neurological; it’s a circuitry problem. So the chemical and structural changes happening in Robin’s brain were responsible for the psychiatric symptoms that he was experiencing,” Schneider Williams said at Life Itself. Those included depression.
The doctors Schneider Williams met with after learning of his diagnosis “indicated his was one of the worst pathologies they had seen. He had about 40% loss of dopamine neurons,” she wrote in her 2016 article “The terrorist inside my husband’s brain” for the journal Neurology. “The massive proliferation of Lewy bodies throughout his brain had done so much damage to neurons and neurotransmitters that in effect, you could say he had chemical warfare in his brain.”
Antipsychotic medications were dangerous for him and made some symptoms worse, as they do for some LBD patients, Schneider Williams said.
If people experiencing neurodegeneration can still do some routines such as work or walk their dog, those “usual, well-worn pathways can provide comfort,” Schneider Williams said. When people can no longer do those things, symptoms can worsen and lead to devastating feelings of isolation.
‘Every yard gained matters’
Nearly eight years after the diagnosis that catalyzed Schneider Williams’ research journey, she is “just now starting to really pick up the pieces of my own life,” she said.
“I kind of need to go underground for a while and relocate my inspiration and my true passion, which is art and painting,” Schneider Williams said. She plans for a portion of all her future print sales to go to LBD research, and she will stay in touch with efforts related to the documentaries and the Lewy Body Dementia Fund, where she remains lead chair.
As Schneider Williams widens her focus while leaving her door open for LBD advocacy, experts continue their research efforts.
“We’re always learning more and more about the disease, from the basic science studies looking at cells and test tubes, to animal models, to human observational studies,” said Dr. James Galvin, a professor of neurology and director of the Comprehensive Center for Brain Health at the University of Miami Miller School of Medicine.
Recent highlights include the introduction of at least two new diagnostics, Galvin said: a spinal fluid test from the company Amprion and a skin biopsy test from CND Life Sciences. The spinal fluid test tracks misfolded synuclein and helps doctors diagnose brain diseases, including LBD. The skin biopsy test aims to help doctors distinguish between serious neurologic disorders.
“To have diagnostics — that can confirm in life that someone has Lewy body disease — goes a long way both toward confirming the diagnosis and advancing research,” Galvin said. “The earlier you can start people on treatments, the easier to enroll people in clinical trials to test new medications.”
The National Institutes of Health has awarded Galvin and the company Cognition Therapeutics a $29 million grant for studying whether a new drug, CT1812, is safe and effective for patients with LBD.
To treat LBD, doctors “borrow medicines from Alzheimer’s to treat cognitive symptoms, from Parkinson’s to treat motor symptoms, from narcolepsy to treat attention deficits and from psychiatry to treat behavioral symptoms,” Galvin said in a news release. CT1812 could help the brains of LBD patients clear toxic proteins and protect against functional loss.
“When I wrote that editorial ‘The terrorist inside my husband’s brain,’ I was convinced that a diagnosis wouldn’t matter anyway, because there is no cure,” Schneider Williams said at Life Itself. “But my thinking since then has completely changed. Diagnosis is everything — not just for the patients and caregivers, but for the doctors, clinicians and researchers. If we had an accurate diagnosis, we could have sought specialized care.”
The Lewy Body Dementia Association has formed a Research Centers of Excellence Program, with 22 sites across the United States, to collaborate on clinical trials, assess needs for resources and infrastructure, and develop better measures of clinical symptoms, said Angela Taylor, the association’s interim executive director.
“We can’t undo changes that have already occurred,” said Samantha Holden, an associate professor of neurology at the University of Colorado and director of the Memory Disorders Clinic at UCHealth University of Colorado Hospital. “But if we catch people early enough, can we prevent it from progressing?”
Research progress is being made in baby steps. When asked whether there has ever been a point when she felt like giving up, Schneider Williams said, “Oh, my God. Pick a day.”
“It’s very overwhelming when you look at all the millions and bazillions of dollars that are spent on research and you think, ‘Oh my God, have we really progressed at all?’ ” she added. But with how complex LBD is, “every yard gained matters.”
“Whoever has hope has many days of feeling the darkness,” Schneider Williams said. “But the thing about hope is that no matter what, you dust yourself off, you pick yourself up and you go forward. And you don’t do that alone.”