Header

Skip to main content

Slider

Diagnosing Amyloidosis

Time is of the essence when it comes to starting treatment for amyloidosis. However, diagnosing this disease early and properly remains a challenge.

Why is that?

 

Amyloidosis is often overlooked because the signs and symptoms can mimic those of more common diseases. This reality materially extends the time to diagnosis, which frequently spans years. All the while the disease is progressing in the body, doing damage. There is a shared view by some in the amyloidosis world that the actual incidence of this disease is far greater than reported, as there likely are patients that have died before the disease could be diagnosed.

Precise diagnosis is critical because treatment varies greatly, depending on the patient’s specific condition. Diagnosing as early as possible can help prevent further organ damage. In addition, the patient is often in a healthier state and can better tolerate a more aggressive treatment.

Diagnosing amyloidosis isn’t a single test, which is one big reason why it may be so elusive and time-consuming. First, the disease must be definitively confirmed, and second, it is critical to assess how and where it is affecting the body.

Laboratory tests are often the front line of identification but do not constitute a definitive diagnosis. Blood and urine may be analyzed for abnormal protein levels that may indicate amyloidosis. Depending on signs and symptoms, there may also be thyroid and liver function tests.

A biopsy, which can provide a positive identification of amyloid deposits in a piece of tissue, will definitively confirm the diagnosis. The biopsy may be taken from abdominal fat, bone marrow, or organs such as the liver or kidney where the disease is suspected. Tissue biopsies must be stained with Congo red, a dye which turns color if amyloid is present, causing it to have a unique appearance when viewed under a special microscope.

Imaging tests become important to identify and analyze organs affected by amyloidosis, helping to determine disease severity. For example, an echocardiogram may be used to assess the size and function of the heart. 

Only then, once the doctor confirms the diagnosis of amyloidosis and understands the extent of the disease, can a proper treatment regimen be developed.

In this video, Mackenzie Boedicker and Dr. Betsy Mencher (caregiver for her husband) share their experiences and discuss the importance of an early and accurate diagnosis of amyloidosis.

———–

Source: Boston University Amyloidosis Center, Mayo Clinic

What is a Rare Disease?

According to NORD, the National Organization for Rare Disorders, in the United States, any disease that affects fewer than 200,000 people is considered to be a rare disease. There are nearly 7,000 rare diseases.

There are countless diseases you probably have never heard of, but you may be surprised to know these are considered rare.

  • Alzheimer’s
  • Cerebral Palsy
  • Cystic Fibrosis
  • Measles
  • Multiple Myeloma
  • Multiple Sclerosis

Although each disorder alone affects a small number of patients, together they impact nearly 30 million Americans — that’s about one in every 10 people. Two-thirds of these are children.

Raising awareness about rare diseases is an ongoing commitment of NORD, Mackenzie’s Mission, and other organizations. Through these efforts, it is our hope that these diseases become better known, more easily diagnosed, receive expanded funding towards improving treatment methods, and ultimately are cured.

At Mackenzie’s Mission we are working hard to elevate the awareness of Amyloidosis and find a cure.

 

 

The role of a caregiver

Caregivers play an important role during the treatment of amyloidosis. In fact, so important that certain treatment will not proceed without confirmation caregiver support is in place. Educated by the medical team, caregivers are involved before, during, and after a transplant and help with basic day-to-day medical and practical issues, as well as provide emotional support. During the transplant the care needs are most intensive, requiring availability 24/7.

Hear first-hand from Mackenzie and Dr. Betsy Mencher who discuss their thoughts about the role of a caregiver. Mackenzie speaks from the perspective of a patient, and Dr. Mencher shares her experience as the caregiver for her husband.

 

Day +100 Post-Transplant

Following every stem cell transplant, time is measured by “Day +” followed by how many days have passed. For example, Day +365 is one year later. Another important milestone is Day +100, which is when patients return to re-test and compare results against pre-transplant test results and determine the impact of the treatment.

Hear from Mackenzie what her Day +100 visit back to the Mayo Clinic was like, and how it went.

Recovering From A Transplant

Recovering from a stem cell transplant is a rough ride. The good news is it doesn’t last forever before you begin to feel better. The bad news is you’ve got a few tough days to go through.

Have a listen to Mackenzie’s experience post-transplant and her recovery.

 

Going Through Treatment

You’ve been diagnosed with Amyloidosis. Now what? You come to learn that there are different types of Amyloidosis and, when coupled with different organs involved and the state of the patient’s health, the course of treatment MUST be customized. There is no set roadmap.

Have a listen to Mackenzie and her course of treatment for AL Amyloidosis.

Diagnosed with Amyloidosis

What is it like to hear you have been diagnosed with a rare and incurable disease – a disease you have likely never heard of? What tests did the doctors run, and what symptoms did you have? Have a listen.

 

What is “re-Birthday”?

Have you ever heard the term “re-Birthday”? If not, watch this video.

Hint: everyone who has had a stem cell transplant has a re-Birthday.

This website uses cookies

This site uses cookies to provide more personalized content, social media features, and ads, and to analyze our traffic. We might share information about your use of our site with our social media, advertising, and analytics partners who may combine it with other information that you’ve provided to them or that they’ve collected from your use of their services. We will never sell your information or share it with unaffiliated entities.

Newsletter Icon