Friedreich’s Ataxia (FA) — more than people realize
Friedreich’s Ataxia is a rare, inherited disease caused by the body not making enough of a protein called frataxin. That protein is essential for cells — especially nerve and heart cells — to function and survive.
Without it, cells slowly become damaged and die.
That damage happens in the spinal cord, peripheral nerves, cerebellum (balance and coordination center), and the heart.
This is why FA affects so many systems at once.
It’s not just walking.
It’s:
• Loss of balance and coordination
• Weakness in the legs, arms, and core
• Difficulty with fine motor skills (writing, buttons, utensils)
• Slurred or slow speech
• Severe fatigue
• Muscle stiffness and pain
• Loss of reflexes
• Vision and hearing issues for some
Over time, many of us need mobility aids — walkers, wheelchairs — not because we “gave up,” but because FA means a loss in ability
Many people develop hypertrophic cardiomyopathy — thickening of the heart muscle — which can lead to heart failure or dangerous rhythms. Heart disease is one of the leading causes of death in FA.
Then there’s scoliosis — sometimes severe — caused by muscle imbalance and weakness.
And diabetes, because FA affects how the body handles insulin.
What makes FA hard is:
The mind is intact.
There is no loss of intelligence.
No loss of awareness.
We understand everything that’s happening
We feel the frustration.
We know what we used to be able to do.
We know what we are gonna loose
And we are always tired — not normal tired — bone-deep, neurological exhaustion that rest doesn’t fix.
FA is progressive.
There are no pauses.
No remission.
No cure — yet.
Treatment right now is supportive:
Physical therapy to slow loss of function
Speech therapy
Heart monitoring
Medications for symptoms
FA means constant adjustment.
Celebrating things others take for granted.
Living with anxiety about falls, choking, heart issues.
Learning to grieve while still loving fiercely and showing up every day.
Empathy matters. Acceptance matters and most importantly Awareness matters. Because back when I was diagnosed, even the doctors were unsure of FA - that’s why it takes so long for a diagnosis! Awareness creates visibility, visibility inspires action, and action brings us closer to treatment — and hopefully a cure.
February is rare disease month, and I have a lineup of 4 unique stories with FA. Stay Tuned HERE! :)
Credits to Jesse for all this info! Learn more at www.curefa.org