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I've been blogging for a few years about misophonia, an auditory/neurological disorder that I have advocated for because I and (more importantly) one of my adult children are affected. Recently, at age 54, I was also diagnosed with Facioscapulohumeral Muscular Dystrophy (FSHD). Of course the first question I asked myself was "What have I been doing all of these years?" I've been working on one disorder while not knowing that I had a muscle wasting disease.
I truly had to pause and assure myself that I had not done the wrong thing over the past 20 years. While it is obvious that certain diseases and disorders are worse than others, I had to do some serious "soul searching" as to whether I should continue my efforts in regard to misophonia or dedicate my time, energy and skills into FSHD advocacy. I am not sure where I will ultimately end up in terms of this journey. I have accomplished a great deal regarding misophonia (e.g., established research programs, advocated for children and families, written for websites and blogs to circulate accurate information to help others). So, right now I am trying to do both!
However, this blog is dedicated to FSHD. This first post discusses the moral quandary we face in terms of the many muscle diseases, all of which are in need of advocacy and research funding. However, right now we are facing great difficulty in fundraising because the classification of the various muscle diseases is highly confusing, and this confusion ultimately impairs funding.
You see, FSHD runs in my family. In fact, my late grandfather, Paul Cohen, founded the Muscular Dystrophy Association (MDA) in the 1950s. Unfortunately, he passed away before I was 5 years old in the mid-1960s (not of anything related to FSHD). Of course, when my grandfather started MDA, understanding of genetics was in the "dark ages" compared to now. His original mission statement reads as such:
The Muscular Dystrophy Association of America, Inc. was founded and incorporated in 1950 as a non-profit, non-sectarian membership organization to foster scientific research into the cause and cure of the disease; to render patient services locally through MDAA [MDA] Chapters, and nationally by the establishment of clinics and the initiation of pilot experiments and conferences; and to carry on a program of education among physicians, professional people, and the public.
My grandfather harnessed the impact of early television and in 1956, Dean Martin and Jerry Lewis co-hosted their first MDA telethon from Carnegie Hall in New York City. The rest is a history that many people already know about. Until 2011, Jerry Lewis continued the telethon that defined Labor Day television viewing. As technology changed, the telethon was abandoned, but MDA continues to raise funds for muscular dystrophy to move forward research and help those in need of care.
Like technology, science moves forward, and as science progresses we learn more and more about the muscular dystrophies. At its inception (as you read above), my grandfather's original intent was to fund research and assistance to families affected by "the disease." However, we are not dealing with "the disease" any longer. Thus, the more inclusive term "muscular diseases" is more sensible. In essence, "the disease" has turned out to be up to approximately 50 variations. I am going to very briefly break down the various types of conditions under muscular diseases because I feel it is important for patients, families and those in the allied mental health and health professions (e.g., psychologists, occupational therapists, physical therapists, etc.) who assist those affected with these varied disabilities have a clear picture.
For many of us, science and medicine can be difficult to understand. However, if we (patients and families) choose to advocate it can be helpful to take the time to learn as much as we can, even though it is somewhat arduous. As I learn, I hope we will go through this journey together.
Muscular disease is a very broad term that encompasses many conditions that impair the functioning of the muscles, either by affecting the muscles directly or by affecting processes stemming from nerve and muscle communication. There are also muscle diseases that are specific to certain parts of cells, and others that are more generalized. In addition, there are muscle disorders that are mediated by autoimmune processes. Many are caused by genetic inheritance, and others are caused by new genetic mutations. That is, it is possible to have a form of muscular dystrophy because a genetic change (or mutation) occurs "out of nowhere." This is called a de novo mutation ("de novo" means new).
Within each of these categories, there are numerous diseases. Depending on the source, the number of muscle disease ranges from approximately 39-50. In addition, some forms of muscle disease affect children, others begin in childhood, adolescence and across the adult years. In some cases, the very same muscle disease can occur in a child in one case and an adult in others. This is typical especially of a disease such as FSHD.
FSHD is considered an epigenetic disorder. This means that one can be born with the gene variation responsible for a disease. Yet, the gene may or may not be activated. In other words, environmental factors can set the gene into motion and cause other processes to occur that bring forth the symptoms of the disease.
For example, in FSHD one can have the gene but be relatively asymptomatic. I was until my early 50's. Once the gene is "activated" or "turned on," a process occurs in which a protein that is toxic to the muscle is released, which subsequently causes muscle wasting. And, as many of us know, some muscles diseases are life-threatening while others are highly disabling.
We are in the age of genetic revolution. Some of these diseases already benefit from some treatment that impacts functioning positively, although not many. However, we have more hope now than during any previous decades. We have come a long with since the 1950s! Given the understanding that we aren't dealing with a single disease but many, with multiple and complicated causes, it is essential to attend to the way muscle diseases are classified.
Researchers now understand the various underlying mechanisms for many of the muscle diseases, and this brings about opportunity. For example, research in autoimmunity crosses over with the autoimmune-mediated muscle diseases. Genetically inherited muscle diseases can be informed by research in general genetic research. The goal is disease modification and/or a cure for all of these diseases. Yet, approaching research with a lack of organization related to nosology (the scientific terms related to disease classification) is important to attend to.
I think my grandfather would have been amazed to see the progress that is his legacy. However, scientific progress necessitates change. As patients with these diseases, we need to advocate for the changes that will accelerate disease modification and true curing of these many disorders. We cannot hope that this will work itself out without the impact of patient advocacy!
For information on FSHD see: FSH Society
For information on Duchenne: Duchenne Parent Project
For more information on epigenetics: Gene on/Gene Off
