FSHD Lab Rat's Introduction: Coping with Facioscapulohumeral Dystrophy

Introduction to FSHD Lab Rat

Thanks to these little guys, who are helping to further the cause for cure

More than 500 years ago, Christopher Columbus set off on a journey of discovery, holding to a steadfast belief that the world was indeed round and not flat as had been thought  The date was August 3, 1492, though Chris certainly had been challenging that widely-held belief long before he set out on his quest that day.

A couple of mornings ago, I too pondered a similar question as I set out on my own exploration for the treatment and cure of a recently diagnosed condition I was gifted with, called Facioscapulohumeral Dystrophy.  That question was: Is our universe constrained by physical boundaries or is its vastness limited only by the limits of our own imagination, placed upon ourselves?  The answer came to to me this morning when I awoke:  With God, in your life, everything is possible.  And so it is...

The Beginning

Unbeknownst to me, several years ago, the adverse affects of FSHD began making their appearance in my life or more accurately, an appearance with which I took notice.  A little more than four years ago as I was in the process of designing and building our Passivhaus (the first of it's kind in PA), I began experiencing some slight difficulty walking with my right leg.

The earliest indication that something wasn't right with my right leg manifested when I transferred weight to it.  Occasionally, my right leg began to feel a little unstable for very brief periods of time (feeling a little like a noodle).  At the time, it was very mild and didn't happen with great frequency, so I basically didn't attribute it to anything in particular.

Ever since I can recall as child, I had always had difficulty performing even basic over-the-head exercises and tasks--such as simply turning a screw driver. Since I was in my twenties, I've had winged scapula that, I am only now realizing, has gotten progressively worse as I have aged.

 

Common presentation of FSHD: Winged Scapula (source: FSH Society)

Beyond that physical manifestation, it was also determined in my adolescent years that I suffered from mild pectoralis excavatum.

Pectoralis Excavatum ((source: Benthencourt Group)

Other than these presenting symptoms, I had been completely unaware of anything else unusual going on and I simply chalked it up to being related to some form of prenatal skeletal defect (as did the physicians I had seen to this point in my life).

By happenstance, my wife and I were visiting an orthopaedic surgeon for an injury of my wife's shoulder.  During a routine clinical examination with Dr. Odgers, I performed some basic arm movements from a seated position.  Based upon the weakness that I demonstrated coupled with the angel winging that was obvious, Charles suspected that I had been presenting with some form of muscular dystrophy and referred me to Dr. Graham, a neurologist, for further examination including an EMG and NCS, who also suspected the FSHD form of MD.  I was then referred to Dr. Lauren Elman who, with the help of the Muscular Dystrophy Association (MDA), performed an expensive genetic test to confirm the diagnosis.  Those expenses were paid entirely by the MDA and I am grateful to both for their assistance.  Unfortunately at this time, to my knowledge, genetic tests such as these are not covered under medical insurance, which means getting properly diagnosed for FSHD is a more difficult task.(Note: if you have received a preliminary diagnoses of FSHD, you may be able to be tested at no cost.)

I was approximately 47 years of age at the time.  I was absolutely in disbelief for a period of time, and not entirely accepting of his findings.  I thought to myself, how and why did it take 47 years to be properly diagnosed of a condition I have had since birth?  For those that have had a similar experience (regardless of your particular affliction), I don't have to tell you what that feels like.  For those that don't (thank goodness), it's something that first caused extreme distress coupled with a sense of helplessness, uncertainty, and even worse, a fear of the future.  These were just some of those initial feelings, that we must face when presented with some life-changing news of that nature.

Like with any of the challenges we each face in our respective lives, we can allow those challenges to define us or we can choose to define them. To that end I have decided to create this blog and it's associated social networking page to succeed, with the following mission statement:

FSHD Lab Rat Mission Statement

1. To raise awareness of FSHD and serve to facilitate education for others that may be impacted by this or other genetically related illnesses.
2. To chronicle my life experiences at it relates to a recent diagnoses of FSHD after being presented with mobility issues at middle age.
3. To share the steps that I'm undertaking to cope with the disease.
4. To help build momentum by driving traffic to the sources making a cure and for assistance in their efforts; to assist those that are working tirelessly to find an effective treatment or cure for others.
5. To be a positive force of change in the face of adversity and to give more than hope to those searching for answers to their questions, as some very special individuals have already given to me.

Like any gift of illness, it often comes with a sense of clarification. Things that are truly unimportant become even less so and the things that are, even more so. For me those things are Faith, Family, and Friends. It's taken me several years to get to this point of clarity in my life, but now that I have focus, my life couldn't be (or feel) any better. FSH and the people who are serving tirelessly for its cure have enabled me to champion a cause that is bigger than myself and far more lasting.

Be Blessed... 

Resources:

• FSH Society
• University of Pennsylvania Health System
• Dr. Lauren Elman
• Muscular Dystrophy Association
• Dr. Charles J. Odgers, IV, MD
• Dr. Thomas H Graham , MD