Robin Williams and Rare Disease

I read today that Robin Williams’ autopsy confirmed that he had Lewy Body Dementia. For those that do not know, this rare disease causes protein “bodies” to appear in nerves. These bodies impair nerve signals, often leading to hallucinations, dementia, and poor motor control.

This struck me particularly hard since Lewy Body Disease is similar in certain respects to Infantile Neuroaxonal Dystrophy (“INAD”), the condition two of Katherine’s doctors believe she likely suffers from. While the manifestations and causes are different, both involve problems and “bodies” in the nerves. With INAD, “spheroids” appear in neuronal axons throughout the body, but particularly in the Cerebellum (because the Cerebellum contains more neurons than the entire rest of the brain and body combined). In both cases, nerve functioning is impaired. With INAD, it also can lead to dementia and always results in poor motor control.

Neither condition has a cure. Both can be difficult to diagnose. Both are debilitating. Both are progressive.

It also hit home because Glenda’s grandfather “likely” had Lewy Body Disease. I say “likely” because he was never definitively diagnosed with it. As we now know all too well, it often is difficult to diagnose rare diseases. Indeed, Robin Williams was only diagnosed with Lewy Body Dementia after a brain biopsy performed during his autopsy discovered the tell-tale Lewy bodies. Glenda’s grandfather died in 2013, just months before the MRI that led the physicians to telling us that Katherine “likely” has INAD. I looked for a relationship between these conditions in my first frantic internet searches, and wonder about possible connections still. It is no wonder, then, that Robin Williams’ suicide resonates with me.

His painful decision to end his life strikes a different, but familiar, chord. Whether dementia caused by the Lewy bodies was a contributing factor in Williams’ decision to commit suicide, loss of muscle coordination was the final straw in a man suffering from life-long depression, or Lewy Body Disease played no factor at all in his decision to commit suicide may never be known. What we do know is that little hope is given for sufferers of Lewy Body Disease – or INAD or any of the other (approximately) 4,000 known or countless as-yet-unknown rare diseases. Few resources are devoted to studying rare diseases and few treatments are available. In many cases, few options are available to even diagnose them — and insurance steadfastly refuses to cover most genetic testing by labeling these non-invasive diagnostic tools as too “experimental;” this translates to “too expensive.” Support groups are hard to come by because patients are few and too wide-spread to find or meet with others like them. There is little community for those of us in dire need of a community’s support.

In the wake of the Robin Williams revelation, we should all take a moment’s pause to consider that a man as objectively successful as Robin Williams saw his life with rare disease as so bleak that his chosen alternative was to end it. While I do not support Robin Williams’ decision, I do understand it. I suspect many others in the rare disease community understand it too.

For those of you who may wonder why Glenda and I have this blog, it is more than an attempt to build awareness for rare diseases (though it is certainly that too). It also is our life raft in deep water. We are trying to keep afloat as we search for others. We rely on your contact and support to keep us paddling toward a shore we cannot see and often lose faith is even there, but continue to hope to find before it’s too late.

For those of you who found Robin Williams’ death to be tragic, please consider that you are surrounded by people – a full 10% of the population suffering from rare disease plus their affected loved ones – who may sympathize all too closely with his decision.

Then do something to help.

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6 thoughts on “Robin Williams and Rare Disease”

  1. Hi. I run the Rare Disease United Foundation. Would you be interested in Katherine Belle being part of our Beyond the Diagnosis Art Exhibit. Professional artists are painting rare disease patients. The Exhibit will be at Brown University’s Medical School in RI and will then travel to medical schools and hospitals across the country. She is a doll. I have two rare girls ages 18 & 15. Thanks so much. Patty. Pweltin@rarediseaseunited.org

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