The Accumulating BBs Theory
We know medical terminology for a rare disease is hard to swallow.
So, imagine your body is a house you're living in.
And suddenly you notice tiny round BBs randomly appearing in your house.
"That's weird," you might say, but it doesn't affect you.
You shove the BBs in a drawer or move them under the counter. You don't bother throwing them out, because they're not really a problem.
"Where'd these come from?" You might say, as you're brushing your teeth, and see some BBs by your toothpaste.
But the BBs keep showing up. In every room.
Slowly building up.
Little inconveniences at first.
Until one day you can't open a door.
Or they end up in the fan light globe, and it starts to get dark.
Or they fill up the fridge, and you don't have space for milk.
Then they end up in the electrical wiring, and things start to short-circuit.
The BBs just keep coming.
And every cool thing about your house falls apart, fills up, or short circuits.
If the BBs are Amyloids - that's what this disease is like.
Hereditary. Rare. No Cure (yet).
WHAT IS AMYLOIDOSIS (hATTR)
hATTR is the hereditary kind of Amyloidosis. A gene misfires and misfolds a protein (called an amyloid). The body doesn't know what to do with it.
So, it stores the pieces.
In every system in the body.
And then the body starts to shut down.
Every system.
That's why this super rare disease is classified as a multi-system disease.
It’s important to recognize that inheriting the gene for amyloidosis is not the same thing as the disease onset.
If someone you love has tested positive for hereditary Amyloidosis, their body creates the misfolded protein called Amyloids.
The disease ONSET (or when the symptoms start), happens differently for each variation. And is always into adulthood.
That’s why it’s called an Adult Onset Disease.
(source: National Health Service)
WHAT IS AN AMYLOID?
Amyloid is a misfolded protein made by a misfiring gene that can build up in various organs and tissues as microscopic deposits, plaques, or masses.
Amyloid deposits are insoluble and have a similar tensile strength to steel.
Amyloid is not easily recognized and removed by the immune system.
(source: National Health Service)
WHAT IS A MULTI-SYSTEM DISEASE
A multi-system disease affects multiple systems at once in your body. Here are some examples that co-occur.
Heart problems
Kidney problems
Liver problems
Spleen problems
Autonomic nerve problems
Nerve pain or misfiring
Digestive tract motility problems
Feeling very tired or weak
Losing weight without trying to
Shortness of breath
Lightheadedness/drop in blood pressure while exercising
Swollen feet or legs
Bruising around your eye
(Source: Mayo Clinic)
Living with hATTR
There is no current cure for Amyloidosis. But in the last 9 years there are significant advancements in NEW medications that can slow the disease down, and change the story.
We believe that living with hATTR = living with hope.
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ABOUT THE AUTHOR
My name is Sue Skavlem.
I'm a visual messenger – not a doctor.*
My husband has Amyloidosis. And it took me a year of googling to understand what an "adult-onset multi-system genetic disease" was.
After learning that "Amyloids have the tensile strength of steel", I came up with the "Accumulating BBs Theory."
My hope is to promote awareness of the disease, update our friends & family on our journey, and create resources other families with hATTR can use.
*Information in this article is meant to inform, but is not medically reviewed, nor should it be used to self-diagnose. Please talk with a medical doctor about free genetic testing if you or a loved one may have hereditary Amyloidosis.
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