I'm Gregory Patterson, and I was diagnosed with ATTR-CM in May 2021. I'm your guide to a successful doctor's visit when you have questions about genetic testing. I have tips for before, during, and after your appointment.

Grab a Tip from Gregory: Watch & Learn (4 Video Clips)

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The Genetic Truth

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Your Family Tree

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Don't Ignore Your Gut

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When Your Results Are Ready

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Get Ready for Your Appointment

A diagnosis of ATTR-CM can seem overwhelming. To make it even more confusing, there are two types of ATTR-CM: hereditary (hATTR-CM) and wild type (wATTR-CM).

“If you have a diagnosis of ATTR-CM or have a family member diagnosed with hereditary ATTR-CM, it's important to get genetic testing.”

Hereditary ATTR-CM runs in families and is caused by a variant in the transthyretin gene, which leads to amyloid deposits in your heart, nerves, and sometimes other parts of your body. With wild-type ATTR-CM, there's no gene variant.

Here are some next steps to help you prepare.

Getting genetic testing is your choice. Weigh the pros and cons and do what feels right for you and your life.

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Make the Most of Your Appointment

As a patient, you always have the right to ask questions. It's especially true when it comes to genetic testing. It's a big decision, and it's reasonable to expect answers.

What to Ask Your Doctor:

Here are some questions you may want to ask your doctor — and some questions they may ask you. Select questions below to save them for your appointment. You'll be able to email, print, or copy them.

What genetic mutations will you test for?

There are different genetic tests for ATTR-CM available that look for different gene mutations. Since there are over 120 gene mutations, you will want genetic testing that's as comprehensive as possible.

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How will genetic testing help inform my treatment?

Each mutation has a different pattern of disease onset, symptoms, and prognosis. There are also specific drugs available now to treat polyneuropathy caused by a hereditary ATTR-CM variant.

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Who else in my family should get tested?

If you do test positive for hereditary ATTR-CM, it's recommended that other first-degree relatives like your parents, siblings, and children get tested. ATTR-CM is autosomal dominant, which means that if you inherit just one altered copy of the gene, you'll get the disease. All first-degree relatives of someone diagnosed with ATTR-CM have a 50% chance of having the gene variant that causes it.

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How is the test done?

Your doctor can order the test or refer you to a genetic counselor who will order it. It's usually done with a blood, saliva, or cheek swab sample, and you'll usually get results within a few weeks.

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How will you tell me about the results?

Some doctors' offices like to give results in person; others will notify you via a phone call. I got a phone call, but it wasn't that much of a shock, as my doctor had already suspected it given my family history. It's good to know what to expect, so you're not surprised.

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“When I was diagnosed, I felt guilty. I didn't know how to tell my children that they had a 50% chance of being diagnosed with a menace that I passed on to them. But it's out of your control, and it doesn't help anyone if you blame yourself.”

What Your Doctor May Ask You:

What is your family health history?

They will want to know if there is any history of ATTR-CM-related symptoms, such as heart failure, in your family.

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Has anyone else in your family been diagnosed with ATTR-CM?

When I was diagnosed, my doctor wanted to hustle all of my immediate family members in and get them tested as soon as possible. If another relative has the condition, they'll want to make sure you get tested right away, too.

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How is your overall physical health?

Your doctor will screen you carefully to see if you have symptoms of hereditary ATTR-CM. There are also medications specifically approved for hereditary ATTR-CM to treat polyneuropathy.

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Do you have a support system in place?

Your doctor will want to know if you have social support available if genetic testing does reveal that you have ATTR-CM. They can refer you to support groups, social workers, and other licensed mental health professionals.

Choose how you want to save your selected questions.

Save your Question

Types of ATTR-CM infographic

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Make Sure You're Being Heard

Knowing when to speak up is very important for your treatment plan and your care. Feel free to ask any questions that come to mind. Your doctor should be able to answer them.

Here are some situations where you might need to speak up.

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Follow Up at Home

It will take a few weeks to get the results of your genetic testing. In the meantime, follow your treatment plan. It will help to keep you healthy and slow down the progression of your ATTR-CM, regardless of what type you have. If your doctor wants you to have certain tests or see certain specialists, book those appointments, too.

Try not to get caught up in worry. It's easy to obsess about genetic testing while you wait for results. Don't. It's just one day, and it's just one test. Regardless of the results, you're still you. Once those results come in, your doctor can use them to guide your treatment plan so you can stay as healthy as possible.

Encourage loved ones to get tested. If you do have hereditary ATTR-CM, you will want your parents, siblings, children, and potentially even grandchildren to have genetic counseling as well. Ask your doctor to help. They may have a form letter, for example, or a social worker who can talk to your family. It may take a while, too. I have two children. One ran to their doctor and got tested right away, while the other one needed coaxing. But there is some good news: Neither is a carrier.

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Meet Your Guide

Gregory Patterson

Advocate

Gregory Patterson, 68, was diagnosed with ATTR-CM in May 2021 and has had several cardiac procedures, including the implantation of a cardiac defibrillator (ICD). He is now a passionate advocate for all things related to ATTR-CM and is involved in the Amyloid Speakers Bureau as a way to spread awareness of the condition. A retired journalist, Patterson lives in the Twin Cities, MN.

Prepare for Your Appointment

Choose a Step:

Get Ready for Your Appointment

Make the Most of Your Appointment

What to Ask Your Doctor:

What Your Doctor May Ask You:

Make Sure You're Being Heard

Follow Up at Home

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