Q: My mom, who is 81, had been blessed with good health until recently. All of sudden, she started feeling very weak and tired. We did not make much of it initially but, after few months, my brother and I insisted that she get checked. It turned out that she was anemic. She had lots of blood work and many different tests. She even had her stomach and bowel checked for cancer. At the end of this exhausting time, we were told that she has a rare form of blood pre-cancer called myelodysplastic syndrome. The specialist who took over her care told us that she probably will need blood transfusions for the rest of her life. They did not give her any other treatment. No one can tell us how serious her condition is and how often she will need these transfusions (she only has had it once so far). I am not sure how to talk with her about all of this. She gets nervous very easily. She has not had many other problems -- only elevated blood pressure and she is slightly overweight (but not too much). Can you help us deal with this new diagnosis and how to tell our mom?
A: It is hard to face a new diagnosis, especially if your loved one has been enjoying good health, few medications and no symptoms. Nevertheless, we need to deal with this news and get prepared for the future. Your mom may be one of many people diagnosed with this disorder who are able to continue a relatively uninterrupted and peaceful existence.
Myelodysplastic disorder is actually a family of diseases, not a singular malady. These are diseases of the blood. To understand them, we need to go over basic concepts of how blood is made.
Blood has many functions and is composed of many types of cells, all floating in an almost transparent substance called serum. Red blood cells carry oxygen throughout our bodies. The oxygen is the main source of energy in humans. Many types of white blood cells are responsible for fighting infections. Platelets are cell fragments in charge of clotting, which is absolutely necessary to avoid bleeding out when we cut ourselves. All of these cells are made and mature inside our bones in a spongy-like substance called bone marrow. Initially, bone marrow creates one type of blood cell. Over time, this cell differentiates into all above described three blood cell types. Mature red, white cells and platelets leave the marrow and are released into the blood stream. This process starts when we are still inside our mom's womb and never ends until we die. Bone marrow needs to keep producing cells, because they get used up and need to be replaced.
Sometimes, however, something goes wrong and the blood cell "factory" stops working properly.
In Latin, dysplastic means "malfunctioning" and "myelo" means bone marrow. Therefore, myelodysplastic syndrome describes bone marrow that is not producing enough cells, makes cells that are not functioning properly or releases immature cells into the blood so they cannot function.
This is a disease of older patients, although it has been described in kids. Many people with this problem discover it very late, since they can have no symptoms for years. Myelodysplastic syndrome is classified into six subtypes, depending on which types of blood cells are damaged.
MDS can be a late consequence of cancer treatment with chemotherapy, which can affect bone marrow. It can develop after an exposure to chemicals, heavy metals and radiation. Vietnam veterans exposed to Agent Orange may have an increased risk for MDS. Most of the time, however, we cannot establish what damaged the bone marrow to cause MDS.
What are the most common symptoms of MDS? They usually start late, as our body has an absolutely amazing ability to adapt to any illness given a sufficient amount of time. Nevertheless, anemia or low red blood cell count will eventually lead to fatigue and shortness of breath. A low white cell count will make us prone to infections and a low platelet count will result in easier bleeding. To diagnose MDS, physicians systematically eliminate other causes for the low blood counts.
Many patients with MDS do very well with blood work and intermittent treatment with blood transfusions. Other than in the cases of MDS caused by malfunctioning genes, which are very rare, we do not have a definitive cure for this disease. However, many medications can be tried. The choice of the treatment depends on the specific MDS type, the patient's symptoms and their age and functional status. Certain people benefit from drugs that increase the number of specific cell lines. Others may improve with drugs designated to try to make immature blood cells into mature ones.
From the information provided by Angela, it sounds like her mom has had good prior health and was functioning well despite her age. It is also reassuring that her doctor did not anticipate the need for more treatment other than blood transfusions and only if dictated by symptoms. We also know now that being slightly chubby is actually much better than being skinny when we are more mature and that slightly heavier seniors live longer.
What else can someone do to help a loved one with MDS? These people as a rule are more prone to infections, so one has to be very careful exposing them to illness -- do not visit when you or your family are sick. Avoiding being in a hospital is always a good idea as hospitals are full of infection and bacteria. Avoiding physical strain is another good piece of advice. Be tuned into the first signs of infection or bleeding or if your loved one looks more tired than usual. I do believe that Angela's mom has a great chance to enjoy many good months to come and that her doctor will be able to keep her out of trouble.