Whether you’re seeing your existing doctor for hereditary transthyretin amyloidosis (hATTR), getting a second opinion, or visiting a new specialist, it’s important to make the most out of every visit. Come prepared with up-to-date details on your medical status. This gives your doctor the background information needed to make tailored recommendations for your care. It may also give you peace of mind so you can focus on your discussion.
The rare disease hATTR is one type of transthyretin amyloidosis (ATTR) that’s passed down through families. Early detection and treatment are critical for good outcomes, because the disease can get worse over time.
That care often involves seeing several doctors. You’ll likely see a heart doctor (cardiologist), blood doctor (hematologist), and brain doctor (neurologist) because the disease affects multiple organs. These health care professionals may not all be in the same medical system.
Even if your doctor has your medical records, it’s good to arrive with updated information. This list includes a few things you may want to have in hand.
A list of symptoms. Make sure to include the hATTR symptoms you have. These may include vomiting, dry eyes, floaters in your eyes, weight loss, feeling full after eating a little food, carpal tunnel syndrome, and leg swelling, to name a few. Less common symptoms can include headache, stroke-like episodes, dementia, seizures, and muscle control issues.
Symptoms can vary from person to person. Your symptoms may also change as the disease progresses. Give the doctor a brief background of your hATTR symptoms if they have changed over time.
Also, tell your doctor if you have symptoms that don’t seem related to hATTR. Doing so may help the doctor tell if you’re dealing with another medical issue.
Medication, vitamin, and supplement details. Write down all medicines, vitamins, and supplements that you take. Specify which doses you take, when you take them, and what pharmacy refills them. If you already take a drug for hATTR (or have in the past), add it to the list. Drugs for hATTR may include eplontersen (Wainua), inotersen (Tegsedi), patisiran (Onpattro), tafamidis (Vyndamax), tafamidis meglumine (Vyndaqel), and vutrisiran (Amvuttra). Tell your doctor about any drugs you’re taking off-label for hATTR such as diflunisal (Dolobid), doxycycline (Adoxa, Doryx), doxycycline plus tauroursodeoxycholic acid (TUDCA), epigallocatechin-3-gallate (EGCG), or tolcapone (Tasmar). Over-the-counter medicines count too, so be sure to add those as well.
Medical history. Even if you already added this to your paperwork on file, tell your doctor about your personal medical background, such as other conditions and diseases you have. You can also include any surgeries you’ve had in the past. Be sure to write down any major medical issues that close family members may have. Let your doctor know if anyone else in your family has hATTR, and which symptoms they had most.
Test results. Bring results from any hATTR-related tests you’ve had done. These can include blood, muscle, and nerve tests, as well as heart tests and magnetic resonance imaging (MRI) scans. You may have results from an abdominal fat pad biopsy, when the doctor removed tissue from your body to test it. Include results from biopsies done on other organs, too.
Bring the results from your initial genetic test that detected the mutation in your transthyretin (TTR) gene. Include results from any close family members – parents, siblings and children – who have had genetic testing for hATTR. (This can help you keep track of genetic tests done for family members).
List of questions. Write down any questions you have for your doctor. Bring the list with you to your appointment. Also, bring paper and a pen to jot down any questions that come up during your visit. If you’re concerned that you may forget something, it’s OK to bring a family member or friend to take notes. Your doctor may also have questions for you that you need to follow up on after the appointment. The other person can write those down and remind you to follow up with your doctor.
Why should I gather medical background information?
It’s important to give your doctor as much personal medical information as possible. It lets your doctor fully understand your health so they can suggest proper treatment.
You may have shared your medical history, for example, with another practice in the past. Don’t assume that they’ve passed that information on to the new one. Some electronic health systems aren’t compatible, so your information may not make it to the new doctor unless you bring it directly.
The best way to give your doctor everything needed to best care for you is to prepare for the visit. With a little work ahead of time, you can get the most out of this – or any other – trip to the doctor.
