Bill Nye the Science Guy is temporarily changing his brand. For now he is “Bill Nye, the ataxia advocate”, as he aims to raise awareness about a neurological disease that has affected his family for generations. Nye has previously spoken about the genetic disease, which makes it difficult for people with the condition to control their muscles and often leads to problems walking and speaking. documentary released in 2017. He said at the time that he did not have children because he was afraid he would pass the disease on to them.
This year, in partnership with the National Ataxia Foundation, Nye has taken a more vocal stance in raising awareness about the condition, which can often be misdiagnosed as other, more common diseases such as Parkinson’s or multiple sclerosis.
STAT spoke with Nye about his history with the disease and why he wanted to talk about it more publicly. This conversation has been lightly edited for length and clarity.
Can you talk to me about your family history of ataxia?
Well, my grandmother lost her balance all the time, often. Her two sons, my father and my uncle, constantly lost their balance. My sister and brother have symptoms. My sister in particular spends a lot of time sitting. She’s not completely confined to a wheelchair, but she’s getting there.
It correlates with this gene repeat that somehow affects your cerebellum – this is the base of your brain in the back. People didn’t even know if it was a genetic condition or something else, but a year and a half ago… two different A group of researchers identified this gene repeat on the FGF14 gene, which is why it is called spinocerebellar ataxia, SCA27B. There are many [other] variations of ataxia.
It’s a big deal because once you find it, [you can] maybe do something about it. And what you would do about it is, for example, according to genetic testing, my gene repeats are so few that I almost certainly won’t show any symptoms. Suppose it had been possible for my mother to select fertilized eggs, zygotes, in such a way that the eggs she selected would not have significant gene repeats. That could change the world.
You have spoken briefly about ataxia in the past. But why did you choose this moment to be more vocal?
The most important thing is identifying the gene repeat. It may be that SCA27B is more common than people realized for two reasons.
Sometimes it is so mild that people don’t even know they have it and pass it on. And other times it looks so much like other forms of ataxia that you don’t realize it’s 27B. So if we can get people with ataxia symptoms to come forward and send their genes – a cheek swab, blood sample – to the labs that do this analysis, then maybe we can learn more about how it is passed down from generation to generation. and then the pattern in that death would lead to discoveries related to all kinds of things about genetics.
It sounds like you yourself have been tested for these genes associated with ataxia. I wonder what that experience was like for you?
For me there are two big things. The first is: I’m not going to get it, cool. I can continue to play disc golf, swing dancing and the other things I do.
The other is the survivor’s fault. My brother and sister have strong symptoms; my cousin, who is about a year older than me, has very strong symptoms. He needs an aid to walk or move. His older sister, my cousin, has one of those crazy tricycles that she takes everywhere.
There are all these other parts of the mystery that we’re trying to solve. [like] why some people have shorter repeats but show stronger symptoms than other people with longer repeats and fewer symptoms. The more people in the world we can get into these studies, the more we’ll know about them, and it makes perfect sense to me that we’ll know more about all kinds of genetic questions.
What breakthroughs and discoveries do you hope will come to people with ataxia in the near future? Well, we’re all working for a molecule, as they say. If you can get the right drug injected into your cerebellum, which is fed by the bloodstream, then you could probably reduce symptoms in the same way that certain potassium channel blockers, as they are called, reduce symptoms and target the disease. Parkinson’s. and multiple sclerosis and other diseases related to coordination and fine motor skills, and so on.
So the cool thing is that we could learn enough about spinocerebellar ataxia 27B that you could design a drug that would specifically target this and improve people’s quality of life in the short term, and then maybe eliminate it in the long term .
Are you hopeful that you will experience this discovery in your lifetime?
Well, that would be great if in my lifetime we could find a drug to improve the quality of life for my sister and my brother, and the quality of life for my cousin – that would be fantastic. But maybe what I’m really hoping for is that my second cousin just got engaged, and I would love it if they could sort their eggs so they don’t pass them on. They may or may not have it; they are so young that symptoms are not present. You won’t know if you have it until you’re between 50 and 60.
Is there anything else you would like to tell people?
This is a big problem for me. Many people have heard of Parkinson’s, of multiple sclerosis, and many people have never heard of ataxia, even though the symptoms are so similar that they are often misidentified or misdiagnosed. By raising awareness, we hope to improve diagnosis and make everyone’s lives better.