Why are studies important?
Studies help doctors, researchers, pharmaceutical companies and patients understand why a condition does what it does to our bodies. Without medical studies we would not know how to treat a broken bone, or the common cold.
What is a medical study?
A medical study is when a researcher collects information from patients who are afflicted with the disease they are studying, in our case EDMD. There are several types of studies that would be of interest to us and we would benefit greatly from participating in. One such study is a genetic study.
Genetic studies allow researchers to collect genetic information from those diagnosed with EDMD. Why is this important? Well if we don’t know every gene that comes up as “mutated” in patients with EDMD then how can we diagnose future patients? And that is not the only important question to answer. What if one gene that creates the condition of EDMD turns out to be the same gene that creates another, well studied, disease? Genetically speaking that may mean that any medical advances in the well studied disease would also be able to be applied to the patients with the same gene mutation. Or perhaps the research being done on the other disease can be used as a base for research for us. You never want to put limits on advancements that can be shared among diseases and knowing is the first step to sharing in that research and medical advancements.
Another type of study, one which I think our group would appreciate having, is what is called a follow study. A follow study is one where medical professionals follow a patient or several patients over years of their life. They are given medical records, test results, can see changes in the progression of the disease and can see what happens to a person over the course of years. Why is this important? Well consider this, if you go to your doctor now with a rash from poison ivy what is your expectation after discussing the treatment plan with your doctor? You may expect them to say, apply an anti-itch ointment and don’s scratch the rash. Why do they tell you these two things? The first, to apply the anti-itch ointment is because they know that these types of rashes will itch. The second? It is because they know that scratching the rash will release the poison from your skin and spread the rash to whatever other part of your body you touch next. How do you think they know this information though? It is because they watched patients with poison ivy rashes and recorded what they saw. A follow study can bring a wealth of information to a medical professional and provide peace of mind to any one of us that is diagnosed with EDMD.
I know that when my son was first diagnosed his first and most persistent question is “what will happen to me in 5 years?” The doctors now have one consistent answer to this question and it is “we don’t know”. They can make a guess based on what anecdotal evidence they may have or based on other forms of Muscular Dystrophy but the fact is that they simply do not have enough recorded medical information to answer this question for any of us.
With each form of EDMD and the new forms being discovered the process of a follow study is of great importance to our community.
It is our sincere hope that you participate fully in each study we bring to you. All studies are brought to you with the drive and compassion of a mother trying to find a cure, and as a patient myself, as someone searching for the same answers as the rest of our community.
Investigators at Columbia University have established an online Registry for patients with EDMD. The Registry will enable the research team to answer questions about the disease.
Dr. Peter Kang is conducting a study on the genetic origins of various muscular dystrophies, including Emery-Dreifuss muscular dystrophy, and is open to enrolling subjects at the University of Florida College of Medicine.
Stay tuned as we announce new studies dedicated to Emery-Dreifuss Muscular Dystrophy.
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