Imagine that your body is a clock, and inside a bit of rust begins to form. As that rust spreads, the gears in the clock must work harder and harder to turn. Unless the rust is removed, the build-up will eventually keep the gears from turning. Similarly, Amyloidosis prevents the organs in your body from working as they should. Being diagnosed with a rare disease such as Amyloidosis can be extremely scary, making the right physical care and strong emotional support essential.
Amyloidosis is not a form of cancer, although its symptoms and treatments are extremely similar. Amyloidosis occurs when the body begins to make a protein differently than it did before and is no longer able to absorb that protein. As more of these wrong proteins are made, they begin to build up and create blockages that can keep important organs from working properly.
There are several types of Amyloidosis, each with its own cause. Here are the four most common types:
Because these proteins build up over time, you may not feel symptoms right away. Also, since there are so many organs that Amyloidosis can affect, there are only a few universal symptoms that can signal doctors to its presence. These include:
In addition, each organ will have its own specific symptoms. For example, “foamy” urine is caused by protein build-up in the kidneys. Abdominal swelling could indicate an issue in the liver. Chest pains point to the heart. Carpal tunnel may mean the nervous system has been impacted. A thickened tongue can be caused by Amyloidosis in the digestive tract. And shortness of breath may implicate the lungs.
There are a few test options your doctor may recommend. Blood and urine tests are common, however, depending on the symptoms, doctors may recommend testing a bone marrow sample, examining organ tissue, or conducting an ultrasound to see if there is any build-up.
While there is not much data on the global rate, Amyloidosis is an extremely rare disease. Medical experts estimate the rate of cases ranges from 9.7 to 14 cases for every 1 million people per year.9
While anyone can develop Amyloidosis, symptoms for all forms generally occur in male patients, between the ages of 60 and 70. Those with chronic infectious diseases or inflammatory diseases, those who undergo dialysis treatments or have a family history of Amyloidosis are also at greater risk. Research has also found this blood disease is more common in people of African descent.
Unfortunately, there is no cure available for Amyloidosis yet, however, there are treatments that can slow the build-up of cells and alleviate the symptoms. These include:
The physical and emotional toll of this disease can seem insurmountable, making it even more important for loved ones to stay involved and present.10
Physically, Amyloidosis symptoms and treatments can be incredibly taxing. Chemotherapy and transplants are both long, uncomfortable processes with side effects that can be difficult to endure alone. Support from loved ones, even small gestures such as offering rides to treatments, or assisting with meals, can help those with this disease work through these difficult times.
Similarly, the diagnosis of any rare disease like this can be a substantial emotional weight to bear. Shock, anger and depression are normal emotions to experience, and may linger throughout the treatment process. As a loved one, offering up the emotional strength to endure, when those with this disease cannot find it within themselves, can make every bit of difference.
The list below includes example questions to help start a conversation with your health care provider. There may be other relevant questions based on your symptoms, stage, and medical history that are not listed here.