Statement on Amyloidosis By Ann D. Peel
STATEMENT ON AMYLOIDOSIS
BY ANN D. PEEL
PRIVATE CITIZEN, BETHESDA, MARYLAND
SUBCOMMITTEE ON LABOR, HEALTH AND HUMAN SERVICES,
EDUCATION AND RELATED AGENCIES
COMMITTEE ON APPROPRIATIONS
U.S. HOUSE OF REPRESENTATIVES
March 23, 2023
Mr. Chairman,
Amyloidosis is a rare and usually fatal disease. There is no known cure for amyloidosis, an abnormal folding protein disease that can destroy various major organs. I am submitting this testimony to request that the Committee include language in the fiscal year 2024 Labor, Health and Human Services report expanding NIH research funding and awareness efforts on amyloidosis. The language relates to the Department of Health and Human Services National Institutes of Health.
I want to thank this Subcommittee for its efforts to raise awareness and funding for issues related to amyloidosis. Progress has been made on research into treatment and awareness.
I have been providing testimony to this Committee and advocating for more amyloidosis research and awareness for almost twenty years. Although efforts made by NIH and amyloidosis centers around the country are resulting in many more people being diagnosed and treated for amyloidosis, it is not enough.
Please help us find a way to save people from suffering and dying from amyloidosis. A further commitment to amyloidosis research is the key to meeting that goal.
The COVID pandemic has brought about an awareness of the need to address health issues through increased investment in research. This investment in COVID has resulted in research that is saving lives through vaccines, early diagnosis and programs of awareness. It has heightened the need to accelerate research and awareness of amyloidosis, to prevent deaths, and to help patients with amyloidosis related multi-organ dysfunction.
The causes of amyloidosis remain elusive. Amyloidosis can cause heart, kidney, or liver dysfunction and failure and severe neurological problems. Left untreated, the average survival is just months from the time of diagnosis.
I have endured two stem cell transplants and chemotherapy in order to fight the deadly disease amyloidosis and have been one of the lucky ones to survive the disease for 20 years. This was due to the intensive, life-saving treatment that I have received through the Amyloidosis Center at Boston University School of Medicine and Boston Medical Center.
I have been treated for primary amyloidosis, which is immunoglobulin light chain (AL) amyloidosis. This type of amyloidosis occurs when cells in the bone marrow produce an abnormal amyloidogenic protein and these form amyloid fibrils that are deposited in major organs, such as the heart, kidney and liver.
These misfolded proteins clog the organs until they are no longer able to function—sometimes at a very rapid pace.
In addition to AL amyloidosis, a blood or bone marrow disorder, there are also cases of inherited or familial amyloidosis and secondary or reactive amyloidosis. Familial amyloidosis may be present in a considerable number of African Americans. Secondary or reactive amyloidosis occurs in patients with chronic infections or inflammatory diseases.
All three types of amyloidosis, left undiagnosed or untreated, are fatal.
There is no explanation for how or why amyloidosis develops and there is no known reliable cure. Thousands of people die because they were diagnosed too late to obtain effective treatment.
Thousands of others die never knowing they had amyloidosis. The small numbers of those with amyloidosis who are able to obtain treatment face challenges that can include high dose chemotherapy and stem cell replacement or organ transplantation.
Researchers have not been able to determine the root cause of the disease or an effective low-risk treatment. Amyloidosis can literally kill people before they even know that they have the disease.
Older individuals are susceptible to heart disease due to amyloid formed from the non-mutated form of the same protein.
One of the major concerns is that current methods of treatment are risky and unsuitable for many patients. Even with successful initial treatment, amyloidosis remains a threat since it can recur years later.
Boston University School of Medicine and other centers for amyloidosis treatment have found that high dose intravenous chemotherapy followed by stem cell replacement, or rescue, is an effective treatment in selected patients with AL amyloidosis.
Abnormal bone marrow cells are killed through high dose chemotherapy and the patient’s own extracted blood stem cells are replaced in order to improve the recovery process.
The high dose chemotherapy and stem cell transplantation and other new drugs have increased the remission rate and long-term survival dramatically. However, this treatment can also be life threatening and more research needs to be done to provide less risky forms of treatment.
Perhaps amyloidosis is not as rare a disease as we think.
Amyloidosis is vastly under-diagnosed. Although I was diagnosed at a very early stage of the disease, many people are diagnosed after the point that they are physically able to undertake treatment.
I believe there are many more cases of amyloidosis than are known, as the disease can escape diagnosis and patients die of “heart failure,” “liver failure,” etc. In reality, some of these people had amyloidosis.
Here are the main points for taking action in the fiscal year 2024 bill:
• Thousands of people die because they were diagnosed with amyloidosis too late to obtain effective treatment. Many people are diagnosed after the point that they are physically able to undertake treatment.
• Thousands of others die never knowing they had amyloidosis.
• The small numbers of those with amyloidosis who are able to obtain treatment face challenges that can include high dose chemotherapy and stem cell replacement or organ transplantation.
• Additional funding for amyloidosis research and equipment is needed to increase the survival rate and to find safe treatments to help more patients.
• Although amyloidosis is often fatal, federal and foundation support over the past years has given hope for successful new treatments.
• More efforts are needed to alert health professionals to identify this disease, to accelerate research and awareness of the disease, and to help patients with amyloidosis related multi-organ dysfunction.
The United States Congress and the Executive branch working together are key to finding a cure for and alerting people to this terrible disease. Expanding funding for research and treatment of amyloidosis is key to preventing death from amyloidosis.
I want to use my experience with this rare disease to help save the lives of others. With your support, more can be done to help me achieve this dream