Bone marrow failure diseases can become serious and require critical attention – and the International Foundation for Aplastic Anemia and MDS is here to support those affected and raise awareness.
AAMDS is “the world’s leading non-profit healthcare organization dedicated to supporting patients and families living with aplastic anemia, myelodysplastic syndrome (MDS), paroxysmal nocturnal hemoglobinuria (PNH) and related diseases. bone marrow failure”.
I had the great honor of speaking with the CEO of Aplastic Anemia and MDS International Foundation, Janice Frey-Angel, about the different types of diseases, the mission of the foundation, how you can get involved, and more .
About aplastic anemia
Kate-Yeonjae Jeong: What exactly is aplastic anemia?
Aplastic anemia is a rare but serious blood disorder that occurs when your bone marrow cannot make enough new blood cells for your body to function normally.
Aplastic anemia occurs due to damage to stem cells inside the bone marrow, which is the sponge-like tissue in your bones. As a result, the bone marrow produces fewer red blood cells, white blood cells, and platelets. Acquired aplastic anemia is generally considered an autoimmune disease.
Normally, your immune system only attacks foreign substances. When your immune system attacks your own body, you are said to have an autoimmune disease.
Hereditary aplastic anemia is passed down through genes from parent to child. It is usually diagnosed in childhood and is much less common than acquired aplastic anemia. People who develop hereditary aplastic anemia usually have other genetic or developmental abnormalities that cause the aplastic anemia. Each year, between 600 and 900 people in the United States learn that they have aplastic anemia.
Paroxysmal nocturnal hemoglobinuria
Kate-Yeonjae Jeong: What is paroxysmal nocturnal hemoglobinuria?
PNH, or paroxysmal nocturnal hemoglobinuria, is a rare blood disorder that causes red blood cells to rupture, called hemolysis.
PNH occurs due to a change (mutation) in the PIG-A gene of a single bone marrow stem cell. This gene controls the creation of a substance that helps certain proteins stick to blood cells. Therefore, all blood cells created by this mutant bone marrow stem cell are abnormal.
Without PIG-A, important proteins cannot connect to the cell surface and protect the cell from substances in the blood called complement. As a result, red blood cells break down too soon. Red blood cells release hemoglobin into the blood, which can pass into the urine. It can happen at any time, but is more likely to happen at night or early in the morning. Experts estimate that between 400 and 500 cases are diagnosed in the United States each year.
The link to leukemia
Kate-Yeonjae Jeong: Could you tell us more about the relationship with the above diseases and the different forms of leukemia?
More than 10 out of 100 people with aplastic anemia will develop PNH. Additionally, some people with PNH will develop aplastic anemia. People with PNH may share symptoms with patients with aplastic anemia, such as low blood cell counts.
On average, 2 in 100 people with PNH develop myelodysplastic syndrome (MDS) and about 10% of people with aplastic anemia will develop MDS.
Myelodysplastic syndromes or myelodysplasia are a group of disorders in which bone marrow cells do not develop into mature blood cells. Instead, these cells remain in the bone marrow in an immature state. Experts agree that MDS is a cancer of the blood and bone marrow. The exact number of people living with MDS is unknown, but studies suggest that 12,000 to 15,000 cases of MDS are newly diagnosed each year in the United States, and approximately 50,000 to 75,000 people are currently living with MDS.
The cause of most cases of MDS is unknown. Doctors call this de novo MDS. De novo MDS cannot be passed down through genes from parent to child or passed from person to person. Treatment-related or secondary MDS develops as a result of treatment for other cancers. This form of MDS can be serious and more difficult to treat than de novo MDS.
On average, treatment-related MDS occurs 5-7 years after treatment for other cancers. Overall, the risk of developing MDS from another cancer treatment is very low. Fewer than 1 in 100 people treated for other cancers develop MDS. The risk increases in patients who have had multiple cycles of chemotherapy and radiation therapy or who have had a bone marrow transplant.
Over time, some cases of MDS turn into acute myeloid leukemia (AML). LAM is a cancer of the white blood cells. It is defined as having more than 20 out of 100 white blood cells in the bone marrow which are immature white blood cells called blasts. It is estimated that one third of patients with MDS will develop AML.
History and creation
Kate-Yeonjae Jeong: How was the International Foundation for Aplastic Anemia and MDS created?
In 1983, Ivan Fisher, eight-year-old son of Bart and Margaret Fisher, died of aplastic anemia at Johns Hopkins Oncology Center. At that time, there was a need for a national organization dedicated to researching aplastic anemia, educating patients and families, and creating a national bone marrow registry to match patients in need. a bone marrow transplant with potential compatible donors.
Bart and Margaret set out to meet these needs by establishing the Aplastic Anemia Foundation of America (AAFA) and petitioning the IRS to approve the foundation as a charitable organization.
Kate-Yeonjae Jeong: What is the mission of the Aplastic Anemia and MDS International Foundation?
The Aplastic Anemia & MDS International Foundation is the world’s leading nonprofit healthcare organization dedicated to supporting patients and families living with aplastic anemia, myelodysplastic syndrome (MDS), paroxysmal nocturnal hemoglobinuria (PNH) and diseases related to bone marrow failure.
The Foundation brings answers, support and hope to thousands of patients and their families around the world.
Find a treatment and a cure
Kate-Yeonjae Jeong: How does the organization help find a treatment or cure for disease through research?
For more than 30 years, AAMDSIF has financially supported research that leads to new knowledge about the causes of bone marrow failure diseases and the development of new therapeutic approaches. Since 1989, we have awarded over $5 million in funding to 94 recipients.
For those concerned
Kate-Yeonjae Jeong: What are some of the services and programs for people with aplastic anemia and other illnesses?
AAMDSIF provides answers and support through our webinars, conferences and educational materials available online and by mail. All our services are free for patients and their families.
Our patient support staff are available by phone, email and chat to answer questions and connect patients with other patients who want to help each other. We also host virtual support groups for patients and caregivers. Because our diseases are so rare, it is important to provide a community for people diagnosed with and living with our diseases.
Kate-Yeonjae Jeong: How does the International Foundation for Aplastic Anemia and MDS raise awareness?
We raise awareness through social media, email campaigns, newsletters and primarily through our website which is visited by 1,000,200 people per year.
The greatest achievement
Kate-Yeonjae Jeong: What would be considered the greatest achievement of the Aplastic Anemia and MDS International Foundation?
The greatest achievement would be that from 1983 our diseases were a death sentence for those diagnosed. Today our three diseases have cures and many more people are living with our diseases.
Proud to be
Kate-Yeonjae Jeong: What makes you most proud to be with this organization?
I’m proud to be part of an organization that helps save lives, whether it’s directing them to the best doctor/treatment or providing them with the right questions to ask their GP. We also impact people’s lives by funding research that helps find treatments and hopefully a cure one day.
How can you get involved?
Kate-Yeonjae Jeong: As a magazine focused on teens and young adults, are there ways for Gen Z to get involved with the Aplastic Anemia and MDS International Foundation?
Each of you can get involved by organizing a walk or run or any competition you like to raise awareness and funds for Aplastic Anemia, MDS and PNH. Let us know if you’re interested and we can help get your event started.
Thanks and carry on
Many thanks to the Aplastic Anemia and MDS International Foundation for this important interview and for sharing these words with us!
Be sure to connect with AAMDS on social media on YouTube, Instagram and Twitter.