↑ Return to FSHD ~ My story

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After two very long years searching for a reason for my progressive muscle loss, the news that I had FSH-MD was almost a welcome relief. My first thought was that I would not have to visit any more doctors and be subjected to the tests and procedures they always recommended. Slowly after reading as much information as I could find on this disease, the real impact of having FSH became alarmingly clear not only to myself but to my family. My first real symptoms began at age 50, which is when I began the doctor’s visit to find the cause of my seemingly sudden muscle weakness. When I was born, my left foot was noticeably turned inward. No treatment was advised and the foot slowly straightened, though there was some weakness as a child I would stand with my foot bent over. My school days presented no significant problems, though I was aware I could not do P.E. exercises like the other girls, especially with my arms but as there was no pain. For many years after school I had a normal healthy life, though at that time I was not very physically active. In 1971, at age 27, I went to work in Barbados, and lived with my brother there for a year. After that I went to California, where I met my future husband, I settled and lived there for almost 30 years. During the early part of my marriage, around my early 30’s I was physically very active, swimming and jogging and playing tennis. My foot always flopped sideways when I jogged, but otherwise I noticed no other restrictions. Also during this time, I tried to conceive and after some tests and disappointments, we decided to adopt a baby. We were delighted when our adoptive daughter was born in September, 1985. We continued to have a healthy, active life. When our daughter Jennifer was 10 years old we visited my family in England, my father commented how badly I was walking. My foot had slowly weakened, and I had tried to compensate by lifting my hip. Soon I had to admit that I had a very significant foot drop which over the next few months I tripped over many times. On our return to California in 1994, I consulted two neurologists in an attempt to find the reason for the foot drop. I had blood tests, X-rays, MRI’s and EMG’s, but the doctors were unable to find a cause for the problem. At this point I decided to just get on with my life as I was doing fine, though I did not jog anymore. A year later the muscles in my left upper arm deteriorated, it seemed quite sudden, though I suspect now that it was quite a gradual process. Two months later the same happened to my other arm. I began to have some difficultly with some household chores and I became concerned. I went to a new neurologist and was his patient from December 1995 until May 1996. During this time, I had MRI’s on my lower back, upper body and finally neck and skull and frequent blood tests. A nerve and muscle biopsy was performed on the back of my left leg, the incision became infected requiring antibiotics and resulted in permanent numbness to the side of the foot. I had a spinal tap, which I reacted badly to and had to lay flat in bed for almost 2 weeks. During this time 5 extensive EMG nerve conduction studies were performed, these were unpleasant to say the least, and left me feeling exhausted and weak. The foot drop continued to deteriorate, it was suggested that I looked into wearing a foot brace but I had negative feelings about it and did not pursue it. The doctor thought I had a serious nerve disorder, destroying healthy nerves at random, and he suggested an intensive course of Prednisone. I was extremely opposed to this knowing the side effects, but my resolve was weakening and I just wanted to find an answer. I was given two massive doses intravenously and then tablets for a total of 5 months. All these procedures and tests produced no diagnosis and the weakness remained. Then a very costly intensive course of gamma globulin was advised which was administered by intravenous drip over two seven hour sessions. This produced no improvement. We decided to seek another medical opinion at UCLA Medical Centre where I had another examination, blood tests and an EMG. Sometimes my husband would mention my strange way of holding my arms outstretched, and my inability to hold the arms in this position, but the doctors did not seem interested. I was becoming despondent at the prospect of still more tests. I tried to remain cheerful, as I realised my daughter, was becoming increasingly fearful as to what might be wrong with me. It wasn’t untill May 1996 that my doctor suggested another opinion from a neurologist at Washington University School of Medicine, St Louis. We arranged for Jennifer to stay with friends for a fewdays and when she saw us off at the airport, she said, with tears in her eyes ‘I don’t want you to go – i will never see you again’. The strain of all this anxiety was becoming evident in our family, however, we promised to phone her every day from St. Louis. At the hospital I was prepared for a muscle biopsy to be taken from the biceps area of the right arm. I felt more hopeful of a diagnosis from St Louis, as they said they could tell it was not a nerve disorder. Two weeks later came an inconclusive diagnosis – we were informed that I had a very active muscle disease, but no name could be given to the disease. As we were about to leave for England for our usual summer trip to be with my family, I asked my sister Penny, who is a nurse and a qualified homeopath, to arrange an appointment with the best neurologist she could find in London. I decided quite firmly, that this would be my final attempt to find a diagnosis as I needed to get on with my life with my family. Penny arranged an appointment at the National Hospital in London, with Dr. John Morgan-Hughes my husband, Penny, and my daughter came with me. The doctor gave me a thorough neurological exam, with no awful tests, and he asked me to do several tasks (which I thought were very odd) such as closing my eyes tight, whistling, and blowing up a balloon, and holding my arms out stretched while he examined my upper back and shoulders. Within half an hour he had diagnosed Fascio-Scapular-Humeral Muscular Dystrophy. We were astounded, I felt like hugging him, and Jennifer greeted me with hugs and kisses we had a huge sense of relief, though none of us had a clue what this strange sounding disease was but within days we were well informed, reading everything we could on the subject. We realised then that my mother also has FSH MD when we knew what to look for it was very apparent. My mother had many kidney problems and we thought her slowness was due to this never thinking there was something else. She had been so concerned about my problems, but I knew it was not going to be easy to tell her about this hereditary disease. I was right – my mother was very defensive and said ‘we don’t have diseases in our family’ and for a long time she would not accept it and began to call my weakness ‘Jane’s Disease’. After the initial shock both my parents agreed to be tested and my mother proved to have FSH MD. When the consultant informed us, my mother wept and said it was all her fault. It was very difficult for my mother to accept all this at her age, mid 70’s. My mother at that time was weakening and not able to walk very well, but she still refused to accept her condition and preferred to worry about my decline. The journey to find a diagnosis was long and tedious and unpleasant, but it is so much better to know what is causing the muscle loss so now we can accept it and move on with our lives. My mother had 4 children, I have FSH and after testing it was confirmed that my sister and one brother also have FSH. My own consolation is that I do not have to worry about FSH affecting my daughter and so I feel that God was watching over me when I was trying to conceive. My daughter has been a tremendous support to me and understands my limitations. This was all twelve years ago. I’m now in my middle sixties, my mother is in her nineties and more or less an invalid. She struggles to dress herself and bathe, but bravely tries to look her best though every task is a huge effort. My father is her carer. Twelve years ago when I had one foot drop and weak arms, I thought my condition would not get worse or painful. Today I feel much different. I have had to accept wearing braces on both legs and a definite decline in walking and ordinary household jobs are often difficult and slow. I walk slowly and can manage quite well, trying to pace myself each day. Sadly my marriage of 30 years ended and now I live in England. The emotional strain of the separation was extreme and I know this was a definite reason my body has become weaker. However, I have an optimistic outlook though when I go for my annual neurology check up I am told to ‘expect more of the same’, best to be prepared I suppose. I have found in the last 2 years that there is pain with FSH and extreme fatigue. Pain in the lower back is now almost every day, aching shoulders and arms but I can do lots of things in my own way. I still swim 3 times a week and I am grateful I can walk, although very slowly. I do not want to use a walking stick, though some people suggest this, I have had some falls along the way but thankfully no broken bones. I have met some amazing people through the FSH-MD Support Group, very brave and positive and every one has been such an inspiration to me. While we will not see a cure to this condition in our lifetime someday there will be one and then this strange sounding condition will just be a memory. Jane