hATTR is a Progressive Chronic Disease
What is A Progressive Chronic Disease?
A progressive Chronic Disease is a condition that worsens over time. This means that symptoms and limitations gradually increase, impacting a person's quality of life.
“Progressive disease or progressive illness is a disease or physical ailment whose course in most cases is the worsening, growth, or spread of the disease. This may happen until death, serious debility, or organ failure occurs.[1]” - Wikipedia - Chronic Disease
Examples of Progressive Chronic Diseases
hATTR (hereditary Amyloidosis)
Neurodegenerative diseases: Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS)
Kidney disease
Heart failure
Lupus
Disease Timeline - The Difference 1 Year Can Make
Every chronic disease timeline is different for people who experience it.
Gene Vs. Disease Onset
Having the gene for hATTR, means Tony has always been producing the misfolded TTR protein. BUT his body didn't start to develop symptoms until enough buildup had occurred.
Tony's symptoms started March 2023- at least that's when we noticed a significant drop in his energy levels. By December of 2023 his GI tract, heart, and nerve pain started. By the time we got to Mayo Clinic in May 2024, his quality of life was dramatically impacted.
The Mayo Clinic tests in May/June confirmed Amyloids in every system tested - with the major quality of life impact in:
Neuropathy in Nerve Endings Burning & sensitivity in his feet/legs/hands This affects how much he can do in a day, how far he can walk, what it's like when our toddler steps on his toes
Autonomic Nervous System & Heart Digestive Motility, Breathing rate, Heart rate, Balance, Blood Pressure This affects how fast food moves through his body (10 min-1 hour), how deep he can breathe without coughing fits, how fast or slow his heart beats, and dropping blood pressure when he stands up or moves fast. (Excerpt from "There and Back Again")
Can Tony Get Better?
If someone is really sick from an acute illness we’re familiar with (flu, COVID, meningitis) - we hope for them to get better. The illness will generally run its course - and even though it may have long-lasting effects - it leaves the body.
Not so with progressive chronic diseases.
Unlike acute illnesses that have a defined beginning and end, progressive Chronic Diseases are ongoing and typically have no cure.
However, it's possible to slow down the progression of the disease and manage some of the symptoms with new, life-saving medications.
Is hATTR a Progressive or Terminal Disease
“Some progressive diseases can be halted and reversed by treatment (surgical, dietary, or lifestyle interventions). Many can be slowed by medical therapy. Some cannot be altered by current treatments.[2] - Wikipedia - Chronic Disease
Until recently, hATTR was a death sentence - and a terminal disease.
Currently, it’s still fatal, but with new medications, the timeline has been lengthened.
In fact, it may end up being curable in Tony’s lifetime.
Do I Have hATTR?
Hereditary transthyretin amyloidosis (hATTR) is a rare, progressive, and fatal disease.
It's caused by misfolded transthyretin (TTR) protein, which builds up in organs and tissues, reducing function and causing irreversible damage.
Because hATTR affects every system in the body, symptoms can mimic other common conditions, making hATTR difficult to recognize and diagnose.
Early identification and treatment are critical to improve outcomes.
This company provides free testing for hATTR: https://www.invitae.com/us/sponsored-testing/alnylam-act-hattr-amyloidosis
It's important to note that the rate of progression varies widely between individuals and even within the same disease.
hATTR is generally a rapid symptom progression - but its onset (when the symptoms begin) vary dramatically. (Always into adulthood though).
If you have a family history of of hATTR, please consider getting tested, so that if you’re positive you can start treatment sooner.
And know that if you get tested and DON'T have the gene, you're not a carrier. Your children won't inherit it from you.
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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