DENIAL

Typically, the first reaction most people have to be diagnosed with muscular dystrophy is denial.  That was my first reaction after being informed that I have muscular dystrophy.  They did not know exactly what type I had, therefore, I would be referred to neurologists that specialize in muscular dystrophy.  Since there were no prior cases on either side of my family, I thought that it could be a bad diagnosis.

I think it is difficult for most people to come to the conclusion that they have a terrible disease and possibly even fatal. The sentence is basically a future of disability, pain and reliance on others to take care of you, and death in some cases.

It also means a loss of income for the person impacted. If that is the main breadwinner in the family it has substantial impacts on the ability’s family to live as they have before.

In my case, my primary care physician that gave me the diagnosis referred me to UCLA Medical Center (UCLA).  UCLA is considered to be one of the best neurology medical centers in on the West Coast. The doctors that examined me came to the diagnosis that I did not have muscular dystrophy. They did not know what I had, but they did not think it was muscular dystrophy.

Now, I did not know what to think since one doctor told me one thing and UCLA told me that I did not have it. So, basically, it just confused me!

My primary care physician then referred me to the University of California, Irvine Medical Center (UCI) in Orange.  They performed the first DNA test which came back negative.  My neurologist at UCI was convinced based upon the physical symptoms that I have Facioscapulohumeral (FSH) muscular dystrophy.

My neurologist at UCI persevered and ordered a second DNA test. The second DNA test confirmed that I had FSH muscular dystrophy. This DNA test was done by the world’s best DNA labs out of the Netherlands.  The doctor indicated that this test was conclusive and no future tests were needed.

Sometimes it is very difficult to diagnose this disease, as I had a number of symptoms that were very difficult to diagnose.   I am grateful to the legion of doctors that worked hard to find out what disease that I have.  If you have any symptoms or suspect that the symptoms match, the first thing that you have to do is that you have to get a confirmed diagnosis.   It will be necessary to find a Neurologist that specializes in muscular dystrophy.