Amyloidosis awareness

Amyloidosis is a silent disease. Unbeknownst to many who suffer from one of its three forms (primary, secondary, or familial amyloidosis), their bodies are making abnormal proteins.  Instead of performing their designated job, these abnormal proteins deposit themselves around the body.  They accumulate. They wreak havoc on organs like the heart, kidneys, and the gastrointestinal tract.  Symptoms are often general, appear unrelated, and can occur in other diseases, which all contribute to an often-missed diagnosis.  Amyloidosis is deadly.

I know more than I ever thought I would about amyloidosis because a few years ago my mother was diagnosed with it.  While treatments are available and we continue to make great strides in amyloidosis research and breakthrough treatments, there is no cure.

Amyloidosis is just one of the 6,800 known rare diseases in the world.  The Office of Rare Disease Research at NIH defines a rare disease as one that affects fewer than 200,000 people.  Collectively, these affect an estimated 25-30 million Americans.  The exact causes for many rare diseases are unknown. Growing awareness and research investments in many have led to important breakthroughs in identifying causes of the disease and in developing new treatments for them. 

My mother has benefited greatly from the early detection of her disease and from the advanced treatment she has received at the City of Hope Hospital near Los Angeles, close to where she now lives.  She had an informed physician in Vermont who diagnosed her disease early and guided her to proper treatment.  She is involved with the Amyloidosis Support Group, which provides an opportunity for patients to network with and support one another and also gives them DIRECT contact with physicians treating and helping to find cures for this disease. 

Many of the rare disorders have similar support groups.  They lean on each other.  They offer support.  They seek diagnoses, treatments, and most importantly, cures for themselves or their loved ones. They are remarkable, strong, innovative people.  Like my mom.

February 28 is Rare Disease Day and is recognized in more than 70 countries and regions around the world.  The objective is to raise awareness about rare diseases and their impacts on patients’ lives.  You can read more about the day and about rare disease in general at any of the following web-sites: http://www.rarediseaseday.org, http://www.rarediseases.org, http://rarediseases.info.nih.gov/about-ordr/pages/30/about-ordr. 

To learn more about amyloidosis, see any one of these web-sites: http://www.amyloidosis.org/, http://www.amyloidosissupport.com/, http://www.bu.edu/amyloid/.