Why did Stephen Hawking live so long with ALS?

We’ll talk about amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig’s disease, tomorrow. It’s a pretty fast-progressing disease of motor neurons, with most patients dying within 5 years.

Stephen Hawking was diagnosed with ALS when he was 21, and he lived until the age of 76 (he died in 2018). What?? Here’s an article from Scientific American that talks a bit about some of the reasons he may have beaten the odds like this.

Also – there is new research showing that inherited cases of ALS are caused by buildup of a toxic protein called SPOP within neurons. AND there are drugs that can inhibit or get rid of this protein (in mice, but hopefully soon in humans too). This research is so exciting, because it may lead to greater understanding of what goes on in the sporadic cases of ALS, which are much more common than the inherited versions. There is hope!

Ted Talk: Stroke of insight

This is one of those blow-your-mind TED talks. Jill Bolte Taylor, a brain researcher, had a stroke. But it wasn’t an ordinary stroke. Because of her training, and her insight into the way the brain works, she actually watched – calmly and with curiosity – as her brain functions shut down, one by one. Not only that, but she felt she attained a new level of consciousness beyond left brain/right brain – and said it was lovely. Totally fascinating.

How about you – have you seen any TED talks that you found fascinating? If so, I’d love to know. It’s great if they’re about medical stuff – but I’m interested to hear about non-medical ones too.

Huntington Disease: would you get tested?

I’ll mention this very informative – and sad – New York Times story in class tomorrow. It involves a  young woman named Katharine Moser who decided to undergo genetic testing to see if she carried the gene for Huntington disease.

Katharine recalls how her family considered the disease to be a curse – a shameful thing not to be mentioned. Strangers showed a remarkable lack of compassion, assuming that her grandfather’s unsteady gait (an early symptom of the disease) meant he was drunk. Her mother was appalled at Katharine’s interest in being tested for the disease; if Katharine carried the gene, that meant her mother did too – and her mother did not want to know.

Here is a video talking about how people who have a family history of Huntington disease are more open about the disease now than their parents or grandparents were. There seems to be a lessening of the shame and stigma that has typically been associated with Huntington disease. Good! How ridiculous it is to view a genetic disease as shameful.

There are several short scenes in this video showing patients with Huntington disease, and if you watch carefully, you will notice some of the involuntary movements typical of Huntington disease. These short, unpredictable movements may be jerky or more writhing in nature. They are called “choreiform” movements (from the Greek “chorea” or dance).