Theresa went through half her life before being diagnosed with myotubular myopathy. She shares her story of slowly losing mobility, the heartbreaking challenges she experienced having children, and how moving halfway across the world finally got her a correct diagnosis.
“It took me thirty years to get diagnosed with myotubular myopathy.”

Nobody questioned why I did things differently
I always found getting off the floor hard as a kid. My headmaster said they kept the medical kit just for me as I was always falling over. I was a very good swimmer but couldn’t lift myself out the side of the pool, I always had to take the stairs.
Nobody questioned why I did things differently though, I just found ways to work round it. I joined the school orchestra so I could sit in a chair during assembly instead of the floor. Years later when I got pregnant and started struggling to get off chairs, I always tried to get a spare seat on my right so I could push up from it.
Losing my son was heartbreaking
My first daughter, Ruth, was born with no problems other than a little jaundice and clicky hip. But my second child, James, was a different story. I told my doctor during pregnancy that I wasn’t feeling kicks, just turning movements, but they put this down to me being busy as Ruth was only 16 months old.
James was born breech at 36 weeks and the delivery was quite traumatic. The paediatrician could see immediately that he was floppy and had breathing problems. My beautiful baby only lived for four short hours. Losing a child is a grief that is impossible to put into words. It broke our hearts.
Finding strength to carry on
One year later we went on to have Helen with no complications. I returned to waitressing when Helen was three to fit around school and nursery runs. Carrying heavy trays was difficult, especially if I had steps to negotiate. When I progressed to a chef in local restaurants, I struggled immensely with the fatigue of raising my family and working. I started going to the gym, but I didn’t get any fitter and felt worse.
I realised how bad my mobility had got when we went on holiday to Malta. I couldn’t get up out of a rowing boat as I had nothing to push off and it took three men to get me out. I went to see my GP when we got home, who sent me to a neurologist for a muscle biopsy and other tests. I was diagnosed with limb girdle muscular dystrophy (LGMD) at this point. The diagnosis was a relief as I finally knew what had caused of all my problems.
A fresh start
When my husband and I moved to New Zealand, I worked for a chiropractor who treated me weekly and was happy to provide adaptations such as a high stool and raised toilet seat. I started going to aquarobics three times a week and eating healthier. Losing 23 kilos made me feel more mobile than I had in years.

I continued to push myself despite my condition deteriorating, but a bad run of shingles then glandular fever finally made realised I needed to retire. By this point I could still walk with a stick but I regularly had falls and injuries.
My neurologist in New Zealand always thought I had a different form of muscular dystrophy, not LGMD, so they redid the tests I had when originally diagnosed. 30 years after experiencing my first symptoms, I was re diagnosed with myotubular myopathy. Looking back, that’s probably what James had and why he didn’t survive as myotubular myopathy occurs almost exclusively in boys.
Accepting my limitations
We moved back to England in 2015 and I started getting proper support for my disability. We bought a bungalow with a wet room and all the necessary adaptions, and I started to visit the neuromuscular centre for physio and hydrotherapy.
I deteriorate more quickly now, probably due to ageing as well. I don’t drive and use a wheelchair outside my home. I still get frustrated and grieve for the loss of mobility and independence, but I will continue to adapt and make the most of my life. I have a husband, two beautiful daughters and four grandchildren to keep positive for.