diagnosis

If you want a copy of your medical records, you  must submit a written request to the hospital or the doctor's office. The law requires that patients provide doctors with written authorization to disclose medical records or the information contained in them. Some hospitals have their own form that needs to be completed. Patients may receive copies of their medical records, however the originals must remain in the physician's or hospital's file.  Please consult with your physician's office for access to digital records.

These diseases can not be passed down through the genes from parent to child. Most cases of aplastic anemia aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… , MDS and PNH are considered “acquired” and the cause is not typically known. In very rare cases, inherited bone marrow failure bone marrow failure: A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be… syndromes can increase the chances of getting aplastic anemia or MDS.

How long do I have to live?

This is most people’s first question, along with “what can I expect to happen.” The doctor’s answer is called a prognosis (an educated guess about the likely course of your disease and how long you might live). Because each person is unique, and each person’s disease is different, a prognosis can be difficult to make. Also, how a disease progresses over time is unpredictable, and less is known about rare diseases than common diseases.

Whether you are an aplastic anemia aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… , MDS or PNH patient, you need to talk to your doctor about your prognosis. This may be hard to hear, but getting a prognosis will give you key information about the treatment decisions you need to make so you can plan for the future.

Prognosis guidelines based on current data

Aplastic Anemia

With standard treatments, about 8 out of 10 aplastic anemia patients get better. Standard treatments include immunosuppressive therapy immunosuppressive therapy: Immunosuppressive drug therapy lowers your body's immune response. This prevents your immune system from attacking your bone marrow, allowing bone marrow stem cells to grow, which raises blood counts. For older patients with acquired aplastic anemia, immunosuppressive drug therapy is the… with antithymocyte globulin antithymocyte globulin: ATG is an immunosuppressant, a drug that lowers the body's immune response. It is typically used with cyclosporine as the first-line immunosuppressive therapy (IS) to treat patients with acquired aplastic anemia. In some cases it is used as a treatment for patients with MDS and PNH. (ATG) with cyclosporine cyclosporine: Cyclosporine is used along with antithymocyte globulin (ATG), another immunosuppressant, for treating aplastic anemia and some other forms of bone marrow failure. and promacta, or a bone marrow transplant bone marrow transplant: A bone marrow transplant (BMT) is also called a stem cell transplant (SCT) or hematopoietic stem cell transplant (HSCT).The procedure replaces unhealthy blood-forming stem cells with healthy ones and offers some patients the possibility of a cure. But for many patients, a BMT is not an option due… . The chance for recovery depends on many factors, including how severe your case is and how you respond to treatment.

MDS

There are many different subtypes of MDS, which are identified by testing the blood and bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. . Your MDS subtype is a key factor in a doctor’s decision about your treatment and your prognosis (an educated guess about the likely course of your disease and how long you might live).

To figure out a prognosis for a given patient, doctors also use a prognostic scoring system. The most common one used today is the International Prognostic Scoring System International Prognostic Scoring System: A system that turns patient data into a score. The score tells how quickly a myelodysplastic syndrome (MDS) case is progressing and helps predict what may happen with the patient's MDS in the future. Also called IPSS. -R, or IPSS-R for short. This system looks at three things:

• Number of low blood counts you have
• Percentage of young white blood cells (blasts) in bone marrow cells
• Number of cytogenetic changes (abnormal gene changes) in bone marrow cells

This prognostic scoring system tells your doctor how severe your disease is and how likely it is that your MDS might become acute myeloid leukemia acute myeloid leukemia: (uh-KYOOT my-uh-LOYD loo-KEE-mee-uh) A cancer of the blood cells. It happens when very young white blood cells (blasts) in the bone marrow fail to mature. The blast cells stay in the bone marrow and become to numerous. This slows production of red blood cells and platelets. Some cases of MDS become… (AML). It also gives your doctor a general idea about how long you might live.

With current treatments, patients with lower-risk types of some MDS can live for 5 years or even longer. Patients with higher-risk MDS that becomes acute myeloid leukemia (AML) are likely to have a shorter life span. About 30 out of 100 MDS patients will develop AML. Most patients with AML need treatment soon after diagnosis because the disease often progresses fast. The initial goal is to put the patient into remission. The long-term goal is to cure the disease, although this is not always possible.

PNH

Many people with PNH live for decades. People with PNH who develop blood clots in key parts of the body or develop MDS (myelodysplastic syndromes) or AML (acute myeloid leukemia) may have a shorter life span.

Treatments available for PNH are helping people with PNH to live longer. Older research you may have come across state that PNH patients live an average of 15 to 20 years after diagnosis. More recent research shows that the PNH lifespan has climbed over the past 20 years. It’s possible that PNH patients – who rarely develop MDS or AML – will soon have a lifespan that is normal compared with people their own age.

It is always best to talk with your treating doctor about your prognosis. Remember, each patient is different.

MDS treatment is designed to increase the number of healthy cells in your blood (blood count). When your blood counts go up you are less likely to need blood from a donor (transfusion), your quality of life becomes better and your symptoms are not as bad.

Your doctor will look at several issues to find the best treatment plan for you. These include your symptoms, your age, the subtype of MDS you have, your disease risk score, and other conditions or diseases you may have. He may also consider whether someone is willing and able to donate matching bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. to you (preferably a family member).

There are a number of general approaches used to treat MDS depending on the subtype and severity of your MDS. These may include:

• Wait and watch:  Also called “watchful waiting,” your doctor might decide to do nothing but monitor you if your blood counts aren't too low and your symptoms aren't too bad.
• Supportive care Supportive care: Care given to improve the quality of life, or comfort, of a person with a chronic illness. Supportive care treats the symptoms rather than the underlying cause of a disease. The goal is to help the patient feel better. Patients with low blood counts may be given blood transfusions as supportive… :  These therapies help you manage your MDS symptoms. They work to increase blood counts, treat infections and treat iron overload iron overload: A condition that occurs when too much iron accumulates in the body. Bone marrow failure disease patients who need regular red blood cell transfusions are at risk for iron overload. Organ damage can occur if iron overload is not treated. and typically include blood transfusions blood transfusions: A blood transfusion is a safe and common procedure. Most people who have a bone marrow failure disease like aplastic anemia, MDS or PNH will receive at least one blood transfusion. When you receive a blood transfusion, parts of blood from a donor are put into your bloodstream. This can help some… and antibiotics antibiotics: The most common white blood cells are called neutrophils. They fight infection. Patients who don't have enough healthy neutrophils are said to have neutropenia. Because of their low white count, they may get infections easily and have trouble getting rid of infections. If you have neutropenia,… , and for some patients, may also include growth factors growth factors: Growth factors are naturally occurring hormones in your body that signal your bone marrow to make more of certain types of blood cells. Man-made growth factors may be given to some people with bone marrow failure diseases to help increase red blood cell, white blood cell or platelet counts. Red… or iron chelation iron chelation: Iron chelation therapy is the main treatment used when you have a condition called iron overload. Iron overload means you have too much iron in your body. This can be a problem for people who get lots of red blood cell transfusions. Basics Red blood cells contain iron. Each time you get a… .
• Immunosuppressive therapy Immunosuppressive therapy: Immunosuppressive drug therapy lowers your body's immune response. This prevents your immune system from attacking your bone marrow, allowing bone marrow stem cells to grow, which raises blood counts. For older patients with acquired aplastic anemia, immunosuppressive drug therapy is the… :  Consists of medicines to keep the immune system from attacking the bone marrow, which can lower your body's immune response and is appropriate for patients with certain types of MDS. These medicines include ATG (antithymocyte globulin) and cyclosporine cyclosporine: Cyclosporine is used along with antithymocyte globulin (ATG), another immunosuppressant, for treating aplastic anemia and some other forms of bone marrow failure. .
• Drug therapies:  Approved specifically to treat MDS, they work to stop abnormal cells from growing and stimulate the growth of healthy bone marrow cells. These therapies include lenalidomide lenalidomide: Lenalidomide is a capsule that is taken by mouth. It is approved for treating low-risk, transfusion-dependent myelodysplastic syndrome (MDS) patients with an abnormality of chromosome 5q. It is currently in clinical trials to test its efficacy with a broader range of MDS patients. For some MDS… (Revlimid), decitaibine (Dacogen) and azacitidine azacitidine: It works by reducing the amount of methylation in the body. Methylation is a process that acts like a switch to turn off or “silence” genes in certain cells. When these genes (called tumor suppressor genes) are turned off, MDS cells and cancer cells can grow freely. Azacitidine is approved by the U… (Vidaza).
• Chemotherapy Chemotherapy: (kee-moe-THER-uh-pee) The use of medicines that kill cells (cytotoxic agents). People with high-risk or intermediate-2 risk myelodysplastic syndrome (MDS) may be given chemotherapy to kill bone marrow cells that have an abnormal size, shape, or look. Chemotherapy hurts healthy cells along with… :  Treats MDS by using drugs that kill abnormal cells.
• Bone marrow/stem cell transplantation (BMT/SCT): A procedure that replaces your unhealthy blood-forming stem cells stem cells: Cells in the body that develop into other cells. There are two main sources of stem cells. Embryonic stem cells come from human embryos and are used in medical research. Adult stem cells in the body repair and maintain the organ or tissue in which they are found. Blood-forming (hemapoietic) stem… with healthy ones from a matched donor. BMT is the only potential cure for MDS. Unfortunately, BMT is an “imperfect cure,” carrying many risks and potential long-term side effects. For many people a BMT is not a good option. When considering BMT, be sure to talk with your doctor about its potential impact on your long-term survival and quality of life when compared with other treatment options.
• Clinical trials Clinical trials: Clinical research is at the heart of all medical advances, identifying new ways to prevent, detect or treat disease. If you have a bone marrow failure disease, you may want to consider taking part in a clinical trial, also called a research study. Understanding Clinical Trials Clinical… , also called research studies, may also be an option for patients who do not have success with the other treatment options.

AML (acute myeloid leukemia) is a cancer of the white blood cells. It is defined as having more than 20 out of 100 cells in your bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. being young white blood cells (blasts). About 30 out of 100 people with MDS will develop AML. Certain subtypes of MDS are more likely to become AML. If you have RAEB-1 or RAEB-2 subtype of MDS, you have a greater than 4 in 10 chance of developing AML. Both aplastic anemia aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… and PNH patients have a small chance of developing AML later in their disease.

PNH can strike people of any age, race or gender. Only about 500 people are diagnosed with PNH in the U.S. each year. PNH tends to be more common in adults in their thirties and early forties.

PNH (paroxysmal nocturnal hemoglobinuria hemoglobinuria: (hee-muh-gloe-buh-NYOOR-ee-uh) The presence of hemoglobin in the urine. ) is a very rare blood disease that causes red blood cells to break apart. PNH occurs because of a genetic change to some of your blood-forming stem cells stem cells: Cells in the body that develop into other cells. There are two main sources of stem cells. Embryonic stem cells come from human embryos and are used in medical research. Adult stem cells in the body repair and maintain the organ or tissue in which they are found. Blood-forming (hemapoietic) stem… . These defective stem cells become PNH blood cells that are missing an important coating (protein) that protects them from your immune system. If you have PNH, there will be times when your immune system destroys many red blood cells very quickly, causing low red blood cell red blood cell: The most numerous type of blood cell in healthy people. Red blood cells contain hemoglobin, a protein that picks up oxygen in the lungs and brings it to cells in all parts of the body. Also called erythrocyte, RBC. counts, as well as blood clots, muscle spasms and dark urine. This destruction of blood cells is called hemolysis hemolysis: (hi-MOL-uh-suss) The destruction of red blood cells. . 

The exact number of people who have MDS is unknown, but about 10,300 new cases were reported in the U.S. in 2003. This number is the result of data collected by the Surveillance, Epidemiology Epidemiology: The study of patterns and causes of disease in groups of people. Epidemiology researchers study how many people have a disease, how many new cases are diagnosed each year, where patients are located, and environmental or other factors that influence disease. , and End Results (SEER) Program of the Centers for Disease Control (CDC) and the National Cancer Institute (NCI). This program only started collecting data in 2001. The number of people may be higher than reported because some doctors are still don’t know that they need to report MDS cases to a national registry. Some doctors believe there are as many as 12,000 to 15,000 new MDS cases a year.

People diagnosed with MDS are:

• More often men than women
• Most often age 60 or older; 72 is the average age of diagnosis
• Most often white (Caucasian)

Native Americans, African-Americans, Inuits, Asians, and Pacific Islanders are less likely to get MDS.

MDS (myelodysplastic syndromes) is a group of disorders in which your blood-forming stem cells stem cells: Cells in the body that develop into other cells. There are two main sources of stem cells. Embryonic stem cells come from human embryos and are used in medical research. Adult stem cells in the body repair and maintain the organ or tissue in which they are found. Blood-forming (hemapoietic) stem… are defective and fail to make healthy, mature blood cells. Doctors consider MDS to be a slow growing form of blood and bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. cancer. With MDS, patients have low blood counts for at least one blood cell type and blood cells look abnormal under a microscope. Doctors must do a bone marrow biopsy bone marrow biopsy: A medical procedure to remove a small piece of solid bone marrow using a needle that goes into the marrow of the hip bone. The solid bone marrow is examined for cell abnormalities, the number of different cells and checked for scarring of the bone marrow. to be certain of the diagnosis. Symptoms and the course of MDS vary for each patient depending on which blood cells are affected.

Between 600 and 900 people are diagnosed with aplastic anemia aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… each year in the U.S. It can strike people of any age, race or gender, but it’s more common among children, teenagers and older adults. It is also more likely to occur in people of Asian heritage.