Theresa’s Story:”It took me thirty years to get the diagnosis of myotubular myopathy”

Written by Theresa
Posted 05-30-2024

Theresa is 67-years-old and impacted by myotubular myopathy (MTM). She learned about MTM 6 years ago after originally being misdiagnosed with limb girdle muscular dystrophy. She joined Remember The Girls because she feels that carriers who show symptoms have no voice as only recently has it been recognised that they are affected too, not just their children.

Since childhood I always found it difficult to get off the floor, going upstairs and hills, etc. My headmaster said they kept the medical kit for me as I was always falling over and injuring my knees. I could trip over my own feet.

School sports I hated and I always struggled to run, however as a tall girl it was put down to me being ungainly. I always found ways of working around things. I joined the school orchestra so I could sit in a chair and not the floor at assembly.

I was a very good swimmer and got all of my badges up to gold, the only one I struggled with was my white badge as that required me to get out of the pool by the side not the steps. Neither the school, my doctor, or parents questioned why it was and accepted that I did things differently.

When I was pregnant I really struggled to get off chairs and at medical appointments I always tried to get a spare seat on my right so I could push up from that. My first baby, Ruth was born at 37 weeks and was a long labor, but other than jaundice and a clicky hip she was fine.

My second baby, James was born at 36 weeks, a breech delivery which was quite traumatic for both of us. Straight away the pediatrician could see he was floppy and had breathing difficulties. I had reported to my doctor that I wasn’t feeling kicks, just turning movements, but this was thought to be due to me being busy looking after Ruth who was just sixteen months at the time.

Sadly James only lived for four short hours which broke our hearts.

We went on to have Helen a full term baby with good health and no problems. I returned to work when Helen was three years old. I was a waitress which fit in with school and nursery times. Carrying heavy trays was difficult especially if I had steps to negotiate. I went on to cook at restaurants and public houses, which meant I had a very busy life working split shifts and juggling picking the girls up from school before returning to work in the evenings.

One occasion while on holiday with my brother in Malta, I couldn’t get up out of a rowing boat as I had nothing to push off… It took three men to get me up. Also I fell down some marble steps injuring my foot.

On returning home I visited my doctor with my concerns about my mobility. I had been going to the gym working hard but just feeling fatigued and not getting any fitter at all. He referred me to a neurologist who took muscle biopsies and referred me for nerve and muscle tests. I was given the diagnosis of limb girdle muscular dystrophy.

I was still walking and working full time while looking after my family. Eventually I struggled too much working in kitchens and looked for employment elsewhere. I started to work as a veterinary receptionist, which was very busy and long hours. Also I found time to go to the gym at lunchtime for aqua aerobics or swimming. I loved the sauna too and could spend hours in there. It was such a lovely feeling to be warm as I always suffered from the cold.

My husband and I decided to go to New Zealand to work for two years, he was getting very stressed at school and disillusioned. I started to work for a chiropractor who treated me weekly and also put things in place to make it easier for me, i.e. a high stool and a raised toilet seat.

I would go to aquarobics three times a week and daily walks on the beach. I also changed my diet and lost 23 kilos – consequently feeling more mobile and healthy than I had in years.

We ended up staying in NZ for twelve years with me slowly deteriorating and losing mobility. My occupational therapist got me raisers for the bed, a tilt, and lift chair, and I also had my toilet raised. My neurologist there always insisted that I had another type of muscular dystrophy, not limb girdle muscular dystrophy

I pushed hard and got exhausted from working long hours, I ended up with fatigue followed by shingles and glandular fever. I had to make the decision to leave work and retire. I was still walking although with a stick and driving an automatic car, my friends found all the cafes with high stools making it easier to keep a social life. I was still falling often and had some dreadful injuries.

We returned home in 2015 and bought a bungalow with a wet room and all the adaptations I need. I started to visit the neuromuscular center which was such a relief as the physiotherapists understood muscular dystrophy and gave me physiotherapy. I also had hydrotherapy and later the adapted gym twice a week.

I had left some DNA in New Zealand and they had done some more tests, resulting in the diagnosis of myotubular myopathy. Looking back that’s probably what James had and why he didn’t survive. Both my daughters were checked out and fortunately they are ok so I did not pass it on to them. However, this affected my daughter who was trying for a baby at the time and put her plans on hold until she saw a geneticist and had blood tests to show she was not a carrier.

I deteriorate more quickly now, probably due to natural aging too. I don’t drive and cannot go out unaided because of the risks of falling. I use a wheelchair out of my home. Most of the housework is too difficult for me, fortunately I have a wonderful husband who does most things for us.

I still get quite frustrated and grieve for the loss of mobility and independence, but realize how very lucky I have been in my life. I have been to wonderful countries. We went to South Africa last year, and hopefully will have more holidays adapting to my disability and making the most of my life. I have a husband, two beautiful daughters, and four grandchildren to keep positive for.