FSHD

It's stands for FacioScapuloHumeral Muscular Dystrophy.  It's actually a very descriptive name for a progressive muscle disease that affects the muscles of the face, shoulders and upper arms.  Other muscles can be affected as well including the abdominal muscles and the lower legs.  30 days ago, I had never heard of FSHD but as it turns out, it is now considered the most common form of muscular dystrophy (of which there are 43 types).  This is the clinical diagnosis given to my beautiful daughter Megan by a Neuromuscular Muscular specialist, Dr. Stephen Smith.  As I have come to learn, this diagnosis will have an impact on our entire family.


It was Halloween and Evan and Megan had their routine quarterly visits with their Endocrinologist, Dr. Bloch.  As a side note, he mentioned that he found that Megan had significant muscle atrophy in her shoulders and wondered if I had noticed.  She has always had hyper flexible joints, especially her shoulders.   I asked him what would cause that and he didn't seem overly concerned but suggested I take her to see her primary care doctor. At this point, I started my research and came upon FSHD and was immediately struck with how many of the early symptoms seemed to match.  Her Pediatrician didn't know much about FSHD but said that she had met Dr. Smith and that he was a gifted doctor and an expert in this area.  


On the 16th of November we had our visit with Dr. Smith.  I was immediately impressed with him and his demeanor.   I have never been taken into a doctors exam room in which he also had his office desk.  He did not talk down to me nor make light of my concerns.  He asked me what I thought she had and I said "FSHD" and he asked me why I thought that.  I listed my reasons.  He did his exam which included several questions as well as different arm movements.  It was noted that her scapula have some winging and are not held as tightly to the rib cage as they should be.  This gives her the hyper-mobility that allows her to have awesome soccer throw-ins at this point.  His diagnosis was that she "most certainly has FSHD."  He said he could tell from looking at her when she walked in.  Apparently, there is a facial look associated with FSHD that he is very keen at noticing and he saw it in her.  It is the same "look" my mom had asked me about several years earlier when it appeared that she had lost all her "baby" face and returned with a mature bone structure, seemingly overnight.  It is the affect of the muscle atrophy of the lower facial muscles. 


FSHD is not considered life shortening, it can be mild or asymptomatic, or it can eventually lead to becoming wheelchair bound for perhaps 20%.  From one study I read, 95% of men will be symptomatic and 68% of women and it seems to be more severe in men.  Most who are diagnosed start having physical symptoms by the late 2nd decade or early 3rd decade of life.


There is a DNA test, however Dr. Smith said that there is a small percentage of people with a different type of FSHD that does not yet have a genetic marker identified.  He stated that even if she tested negative, she still has FSHD clinically.  The defect is in chromosome 4q35.  The way I understand it is that there is a repeating DNA sequence on this segment of the chromosome.  In normal people, this sequence repeats 11-100 times, people with FSHD have fewer than 10 repeats and there seems to be some correlation between the deletion size and the disease severity.  The DNA deletion apparently triggers a previously dormant gene called DUX4, to become active and this gene then triggers the creation of a protein that destroys muscle tissue. This is a dominant gene so only one bad copy is needed for the disease.   We hope to do the DNA test soon (pending insurance approval).


Knowing that this disease is typically inherited (with perhaps 20-30% being a spontaneous mutation), I started looking for symptoms in the boys.  At this point, I am about 95% convinced that Evan also has FSHD.  There are many reasons for this and ironically, one of the early signs is the inability to whistle or smile.  I just found out last week that Evan can't whistle, I never knew or noticed.  For years I have given him grief about not smiling for photos, he either has no smile, or a very forced, sarcastic looking smile.  His scapula and shoulder muscles also fit the profile. I forgot to also mention the "Popeye" looking physique since the deltoids are not affected they can be very large relative to the atrophied muscles.  We will find out more later in December when Evan goes to see Dr. Smith.


If both Megan and Evan have this, it is pretty much guaranteed that either Alan or I also have FSHD since 2 kids with spontaneous mutations would be statistically impossible in my mind.  You can't be a carrier, you either have it, or you don't and if you have it, you pass it on to about 50% of your children.  


What does all this mean?  I am not really sure yet.  It doesn't seem to be causing problems yet for the kids and Dr. Smith told Megan to continue doing all the sports she is doing for now.  It seems odd to say my child has MD when she isn't yet in braces or a wheelchair.  The amazing thing is that just a month or so ago, scientists were able to reverse the disease process in mice.  I am convinced that there will be a cure for this in the near future.  This is why diagnosis is important, so when a treatment is found, it can be started quickly.  Some people have said it also allows a child to at least consider this when thinking about a future career choice.  I don't want them to limit their options, but perhaps if they are equally inclined to a few different career options, they might lean towards the one that is less physically demanding.


So, just one more "notch" on our "Year of Chaos" belt.  Mostly, I am proud of myself for handling everything without a complete meltdown.