Imagine waking up after a good night’s sleep, but feeling as though you have not rested in days. You notice that a bruise from bumping into your coffee table weeks ago still looks fresh and stands out against your skin, which has become unusually pale. Throughout the day, simple actions, such as walking up and down a flight of stairs, seem as difficult as scaling a mountain. This is the life many with Myelodysplastic Syndromes (MDS) lead.
Myelodysplastic Syndromes are a group of rare blood disorders that occur when the spongy tissue inside your bones, called bone marrow, begins to create blood cells incorrectly, making them unable to do their job properly. There are different kinds of blood cells that can be affected: red blood cells carry oxygen throughout your body, white blood cells help protect you from infections, and platelets help you heal from injuries. In most MDS cases, there will also be an unusual number of young blood cells, called blasts, which will never grow into mature blood cells.
Over time, the number of unhealthy blood cells becomes greater than the healthy ones, which can lead to one of six subtypes of MDS. The subtypes depend on which blood cells are affected, how they are incorrectly created, and how many of them are in the body.
The MDS subtypes are:
MDS with Single Lineage Dysplasia
MDS with Multilineage Dysplasia
MDS with Ring Sideroblasts
MDS Associated with Isolated Del (5q)
MDS with Excess Blasts
Only one of the three blood cell types is printed abnormally.
At least two, and perhaps all three, of the blood cell types are printed abnormally.
This is the most common form of MDS.
There is an unusually low number of red blood cells, and young red blood cells are printed with an extra ring of iron around them.
There are two subtypes within this group, depending on whether one blood cell type is affected or more.
There is a significantly low number of red blood cells, as well as misprinted blood cells, caused by a mutation in your DNA.
Red blood cell types are the most commonly affected.
There are low counts of one or more of your blood cell types.
The cells that are present may look abnormal, and there will be an unhealthy number of young blood cells in your bone marrow.
This type of MDS does not fall under any of the previous categories. It will likely have low numbers of one of the blood cell types, and they will look abnormal. However, there is a normal number of young blood cells.
Early stages of MDS do not show any symptoms because the effects of these blood diseases need time for the unhealthy blood cells to reach a certain percentage of your blood cell count. However, as the number of young and unhealthy blood cells increase, and the number of healthy cells decrease, you may begin to experience an increasing number of symptoms associated with many blood diseases. These may include:
If you are experiencing these symptoms, your doctor may advise examining your blood cells to see if you have MDS. The most common tests for MDS are either a simple blood test or a bone marrow biopsy, where a small piece of bone marrow will be taken to examine.
As a collective, Myelodysplastic Syndromes are incredibly rare diseases, however, within this some subtypes are more common than others. In total, there are an estimated 87,000 new cases worldwide each year.
While certain subtypes of MDS have known causes — like a missing piece of DNA — doctors have not been able to find an exact cause for MDS as a whole. Over the years, medical professionals have identified risks they think make developing MDS more likely, including smoking or exposure to chemotherapy, certain chemicals, or some heavy metals.
The only cure for MDS is through aggressive treatment with chemotherapy followed by stem cell transplant using a donor, which is unfortunately not suitable for every patient.7 However, there are treatments that can slow down the disease’s progression and ease symptoms. There are three types of treatment for MDS patients — supportive care, drug therapy, and bone marrow transplant.
Each of these treatment types come with their own risks and side effects. If you are not showing symptoms, your doctor may advise that you hold off on treatment, continue to have regular testing, and see if your MDS advances – also known as the watch-and-wait stage.8
Whether symptoms have fully appeared, or the disease is in a wait-and-see stage, those diagnosed with MDS will likely be caught in a state of emotional limbo. They may be asking what the next few months may look like, let alone the next few years. When looking into invasive treatments such as transplants or chemotherapy, what will the recovery process be?
As a loved one, the best thing you can do is make sure they do not have to face these difficult times alone. Research and learn about this condition, perhaps look into available clinical trials or begin making an action plan for the long recovery process following a bone marrow biopsy. Sometimes, it can even be as simple as sitting quietly, holding a hand or offering an embrace, and just allowing your presence to be a comforting light in the surrounding shadows of uncertainty.
The list below includes example questions to help start a conversation with your health care provider. There may be other relevant questions based on your symptoms, stage, and medical history that are not listed here.
Janssen’s goal is to fundamentally alter the way MDS is understood, diagnosed and managed. We are committed to finding innovative ways to fight MDS, and our primary efforts focus on treatment and prevention solutions.
We are driven by our commitment to patients, working side-by-side with healthcare professionals, to offer solutions based on trust and transparency.
This website is developed exclusively by Janssen Pharmaceutica NV. Please note that the patient advocacy groups, and external sources listed below are an additional and independent source of information you might find useful. These groups and sources were not involved in the creation of this website and do not endorse its content in any way.
The MDS Foundation is a global, non-profit organization comprised of medical professionals and advocates, supporting those with MDS through research, fundraising, and education.
AAMDS is a patient-focused organization working to inform patients about new research, and existing treatments, around MDS, as well as patient and family support networks.