MY FIRST SYMPTOMS

At 56 I thought life was good. My youngest daughter had graduated from High School, my three older children were happily married and I myself was a newlywed (second marriage). But I had this little bother, this little annoyance…nothing drastic. I did not have pains, muscle cramps or fever; no nausea or dizziness, just a difficulty to climb stairs, to rise on my toes or to endure long dances!

I postponed scheduling an appointment with a doctor because in my heart I suspected that my symptoms were the inevitable signs of approaching old age and I was in no hurry to have that confirmed. Besides, I was truly very busy. I worked as a legal secretary during the day and as a social reporter for Diario Las Americas, the largest Spanish newspaper in the United States of America, in the evenings and weekends. Reluctantly, I scheduled an appointment with my primary doctor.  

Dr. J.H. a wonderful physician and a kind person had been my doctor for some time. He reminded me of my grandfather. He listened to my complaints and took notes of the problems I was experiencing.  Then, he asked me to walk up and down the corridor in his office while he observed me closely. After that, he advised me to visit a neurologist.

DIAGNOSIS

The neurologist I visited was Dr. Raul Lopez. I was pleasantly surprised when he told me he had read my social column in El Diario. In reference to my ailments he told me that I needed to have some tests. I don't remember if he ordered a new blood test, but I remember the EMG or Electromyography; an over an hour test where sensors are placed on your skin in order to measure the ability of the motor neurons to send electrical signals. Also, a thin needle electrode is inserted through the skin into the muscles to evaluate the electrical activity in your muscles when contracted and when at rest. It is not painful but I thought it was nerve wrecking because it is slowly done all over the body.
After that exam, Dr. Lopez referred me to another doctor, Dr. Walter Bradley at University of Miami. Dr. Bradley is a recognized authority in the fields of amyotrophic lateral sclerosis, peripheral neuropathies, inflammatory myopathies and muscular dystrophy.
I think it was Dr. Bradley who told me I needed a Muscle biopsy. This is a painful test that required anesthesia and was done at the hospital by yet another specialist. During this test, a piece of muscle tissue is surgically removed for laboratory analysis which may reveal abnormalities, such as inflammation, damage, certain proteins or enzyme deficiencies.  To this date, the section of my thigh where it was performed is very sensitive to touch and cold temperatures. Many times I think that having the biopsy done has caused me more pain than benefit. 

After those exams I was diagnosed with Miyoshi Myopathy a 'rare form of the rare disease Muscular Dystrophy.'

I knew very little about muscular dystrophy. Nobody in my family had ever been diagnosed with it, nor even any friends or acquaintances. The only contact I had experienced with Muscular Dystrophy was a faded recollection hidden way down my memory of helping my children to hold and sponsor a little fair or carnival that they had seen promoted on TV for the benefit of Jerry's children. We were living in Washington, DC and my oldest boy was at that time, 8 or 9 years old. Watching young people affected with MD moved him to the point that he wanted to help raise money for Jerry's cause. He engaged his siblings, a girl 6 and another boy 5- in the project and did it in our front yard. The event came out very successful.  They did that for a couple of years then we moved to Panama, Central America and forgot about Jerry's children.

I do not remember which one of the doctors I visited told me that I had Miyoshi Myopathy "one of the mildest of the known muscular dystrophies," he said.  To my husband's question of how incapacitated I could become and if I  was going to be using a wheelchair, he answered that my illness would progress slowly and  if I ever came wheelchair bounded I probably would not have strenuous problems transferring, let's say, from wheelchair to the toilet or from the wheelchair to the bed.  My husband sighed with relief!

ARTICLES YOU MIGHT LIKE TO READ:

https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy
https://www.healthline.com/health/electromyography
https://www.hopkinsmedicine.org/healthlibrary/test_procedures/orthopaedic/muscle_biopsy_92,p07671


LOOKING BACK:

I regret not having kept a well document file with doctor's names, opinions, dates etc.