Hi! My name is Sue Skavlem, and my husband has hereditary Amyloidosis (HATTR).
I'm currently working on a FIELD GUIDE for families with Amyloidosis, but until that's done, I'm updating this page as I find new resources. So I hope you visit this page often. Please feel free to contact us, if you have another resource you think I should add.
You've got this.
And you're not alone.
-Sue Skavlem
Hereditary Amy - Loid - Osis. (or hATTR)
It’s a mouthful.
It's genetic. So if one of your parents had it, you have a 50% chance of inheriting the misfiring gene.
If you don't have the gene, you won't pass it on to your kids.
If you do have the gene, each kid you have has a 50% chance of getting the gene.
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)
Once the disease onset starts, it rapidly progresses. You will need to get diagnosed and treated by amyloidosis specialists as soon as possible.
We recommend if at all possible, to go to Mayo Clinic, whose team of specialists will work with you to diagnose each system in your body (blood, heart, nerves, liver, GI, etc).
It doesn't matter where you go to get diagnosed, so much as it does that your specialists talk to each other.
Sharing your stuff with strangers – your pain – and your body misfunctioning – isn't something we default to. But these strangers understand.
hATTR is such a rare disease, that unless you live in a big city, you may not have the option to meet in person. Here are some amazing online options:
The site I just found in September of 2024 has medically reviewed shareable resources!!! Including Explainer vids. Wow. I really hope to have that for my content soon.
In the meantime - Check them out!
Want to raise awareness of WHAT hATTR or other Amyloidosis is? Check out this organization and their infographics you can download and share!
hATTR disease understanding, support, and treatment is ALWAYS changing. Huge strides have been made in medications and treatment to help you manage the disease. Stay in the know with these live webinars, or posted videos.
Here you will find informative videos from ASG webinars, meetings, and other resources to help you understand and manage this debilitating disease. Our videos include presentations from the leading amyloidosis physicians and researchers in the US, so please take advantage of their expertise!
Amyloidosis Research Consortium Webinars
The Amyloidosis Research Consortium (ARC) is a nonprofit organization dedicated to driving advances in the awareness, science, and treatment of amyloid diseases. ARC’s mission is to improve and extend the lives of those with amyloidosis. ARC is committed to collaborative efforts that accelerate the pace of discovery, expand patient access to the most effective care, and improve short- and long-term outcomes. Working with partners in industry, government, and academia, ARC seeks to spark innovation and to bring promising treatments from labs to clinics. ARC’s outreach and education inform and empower patients, families, caregivers, physicians, and researchers.
If you have hATTR, please talk to your specialist team about 2 kinds of medications to live with Amyloidosis.
The first is a Silencer. The second is a Stabilizer.
The Silencer medications are all new. Because they are new, they are expensive.
Why are they amazing?
Because they slow or halt the disease.
It’s not a cure, because it won’t reverse any of your current damage from amyloid load to your systems like your heart, nerves, lungs, and kidneys.
The next medication - the Stabilizer - will help stabilize your heart’s functionality.
You may not need a stabilizer - but you'll need to work with a cardiologist who can test your heart for Amyloid in your heart to determine that.