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THE SCIENCE GUY: BACK IN THE LAB FOR FA

Greetings! Class is back in session. Bill Nye is heading into the lab to explore the science behind Friedreich ataxia (FA), a rare neuromuscular disease that affects more than 5000 people in the United States. Watch the new series now and find more information about FA below or by signing up .

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00:03

You can’t take it back, back back back. Whoa-oh. You can’t take it back, back back back.

00:13

It’s getting worse, you’re
Making me sick
It’s irreparable,
I didn’t need this

00:23

You can’t take it back
Just don’t neglect my heart
It’s what sets this apart

00:28

BILL NYE: These 90s kids, they think they’re experts on affairs of the heart. But what have they ever said about Friedreich ataxia?

00:36

BILL NYE: Ha!

00:40

BILL NYE: Oh, hi uh, today’s topic gets a little deeper than that. Let’s take a look at some of impacts of Friedreich ataxia.

00:49

BILL NYE: What are you looking at? What?

00:53

Pull up to the lab,
It’s been a minute
‘The Science Guy’ is back
With a special mission

00:58

Friedreich ataxia?
It’s a rare disease
If you think that’s you
Let’s get up to speed

01:02

Back in the lab, back in the lab,
Back in the lab with Bill Nye
Hi Bill, hi Bill, hi!

01:11

BILL NYE: Impact! It can be physical.

01:14

THE VOICE: Ouch.

01:15

BILL NYE: Or emotional!

01:17

BILL NYE: But in all seriousness, Friedreich ataxia is a progressive disease with a big impact. It can affect the functions of organs like the heart, as well as mobility and speech. And, man, when you’re experiencing this stuff, it can be really hard. But knowledge is power, my friends, and the more we know about Friedreich ataxia, the more we can do.

01:41

ROMAN WOMAN: We can detect a sign of Friedreich ataxia by looking at people’s feet. Pes cavus comes from the latin “pes” which means “foot” and “cavus” which means hollow.

01:54

ROMAN WOMAN: As Friedreich ataxia progresses, so do mobility issues. You may start with a cane, then switch to a walker, then eventually a wheelchair. [Beat] What’s a wheelchair? A horseless chariot? A wheelchariot? You meant wheelchariot!

02:15

BILL NYE: Over time, Friedreich ataxia can affect different parts of your body, even your heart. It’s a condition called cardiomyopathy. Let’s dive in for a closer look.

02:30

CLAY BILL: For someone with Friedreich ataxia, a reduction in frataxin production may cause abnormal mitochondrial function in the heart cells. People might not even notice it’s happening, but the walls of the heart can get thicker and thicker over time.

02:45

CLAY BILL: This can make it difficult for the heart to pump blood effectively.

02:50

CLAY BILL: Eventually, it may lead to complications!

02:56

BILL NYE: At this moment in time, Friedreich ataxia is irreversible, but the science is evolving, and there are treatments available that could help. But time is crucial. So, don’t wait. If you have symptoms, talk to your doctor right away.

03:13

THE VOICE: Uh oh.

03:15

BILL NYE: Well, that’s our show. Now, if you’ll excuse me, I’m off to have a little heart to heart.

03:39

BILL NYE: Spin! Sticky shoes!

03:53

ROMAN WOMAN: Yahhh, ataxia!

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Episode 1 hover state

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What is the impact of FA?

FA is progressive: What does it look like?

FA is progressive: What does it look like?

Because FA is progressive, damage to nerve cells continues over time, resulting in worsening symptoms. Coordination issues seen in the arms and legs (limb ataxia) can lead to difficulties with everyday activities like handwriting, washing, dressing, and using cutlery. Speech, swallowing, and chewing food may also become difficult, requiring patients to avoid certain foods.

Mobility Devices

As FA progresses, it may get harder to move around, but mobility devices can help. In the earlier stages of decreased mobility, people with FA can use canes or walkers to help maintain their capabilities in daily life. Eventually, in most cases, people with FA will require a wheelchair for mobility 10 to 15 years after symptoms start.

Other Conditions

Over time, FA can cause other conditions in the body, including diabetes and heart issues. Some people with FA will develop diabetes mellitus, and insulin therapy may be required. Some people may also experience a cardiac condition called cardiomyopathy, which is when the heart wall thickens. It may affect the heart’s ability to effectively pump blood and can lead to serious complications. Heart problems are the primary cause of death in people with FA. People with FA should have a multidisciplinary team to ensure all body systems are adequately being taken care of, such as diabetes, heart conditions, vision loss, and hearing loss.

Learn more about building a care team below.

Managing FA

Physical therapy, occupational therapy, and treatment

Physical therapy, occupational therapy, and treatment

While there is no cure, there are ways to manage life with FA. Physical therapy (PT) can be a great tool to help people maintain mobility and functional abilities. Another option is occupational therapy (OT), which may help optimize daily living activities and provide recommendations for home adaptations. There are also treatments available that may help.

Learn more about FA management, including treatment, at the link below.

Support Groups

FA is a difficult disease, which may have a serious impact on the well-being of people who have the disease as well as their friends, families, and caregivers. There are support groups that those affected by FA can take advantage of, that can offer help to those affected by FA.

Find information about support groups that may be available near you below.

Receive emails about FA

Brought to you by NAF and Biogen

The Science Guy: Back in the Lab for FA is brought to you by a joint effort from the National Ataxia Foundation (NAF) and Biogen, two leaders in the Friedreich ataxia space.

Bill and Christian

Meet two science guys with close ties to ataxia. Bill Nye has a long-standing relationship with NAF and has family members with a type of ataxia called Spinocerebellar ataxia type-27B (SCA27B). Bill is dedicated to helping others by spreading knowledge about ataxia. Christian M is a PhD student who has Friedreich ataxia. He studies molecular biology in hopes of one day finding a cure for his disease.

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