THE DYSFERLINOPATHY JOURNEY
THE DYSFERLINOPATHY JOURNEY
I have been diagnosed with Limb Girdle Muscular Dystrophy, Dysferlinopathy 2B and live in the UK.
At the age of 10, I auditioned and gained a place at the Bush Davies School of Theatre Arts and Dancing. After a couple of years I started to have problems; my legs, especially my calf muscles, were so inflamed and tight that I couldn’t kneel. I put this down to excessive exercise and enlarged muscles from dancing. I then had difficulty running to classes, doing the ballet movements, Plie’, Jete’ (bending and jumping), walking on tip toes and keeping in time with the music.
I went to see the doctor at the school and my GP; both thought I may have Achilles Tendon but the Principal said there was something very wrong and that I should see the Royal Ballet physiotherapist and their orthopaedic consultant in London. They were unable to help and I was eventually sent to see a rheumatologist who thought I had Polymyositis (inflammation of the muscles). I was given a high dose of steroids which made me feel very unwell and didn’t help at all, so he recommended that I go to see a neurologist at the National Hospital in London, where after my fourth muscle biopsy, two in my leg and two in my arm, I was diagnosed with Muscular Dystrophy.
I have deteriorated a lot since that diagnosis at the age of 15. I am unable to walk up stairs, get in or out of a chair without the assistance of electric riser equipment and someone to help me. I have difficulty eating and drinking as my arms are now affected. Because of the muscle weakness I have had a lot of falls, breaking bones and falling literally flat on my face so I have had quite a few stitches on my poor nose!! I use a wheelchair outside but indoors I hold onto someone because my balance is unstable. This as you can imagine is not ideal but I am determined to keep on my feet for as long as I can because it will make my life so much more difficult being permanently in a wheelchair. I swim daily, doing mainly exercises, which has helped enormously to keep my weight down and to keep me as fit as possible, plus I find physiotherapy extremely helpful. I used to do administration and HR work until things became too difficult for me. I now like to do oil painting, which gives me great pleasure; it is not at all easy but a challenge. Most importantly though I am very much involved with the Muscular Dystrophy Campaign in the UK, helping to promote awareness. I am extremely fortunate to have such wonderful family and friends. Without their help and support, especially my parents and brother, I’m not sure how I would cope. They are incredibly amazing and have been through everything with me.
It is only in the latter years (I am now 48) that through the much appreciated help of Professor Kate Bushby at the Institute of Genetic Medicine, The International centre for Life in Newcastle, and the help of the Jain Foundation, that I have been diagnosed with Dysferlinopathy, Type 2B Limb Girdle Muscular Dystrophy.
Because this type of Muscular Dystrophy is very rare it is so crucial to find the exact diagnosis so that an eventual cure can be found, therefore I thoroughly recommend getting in touch with the Jain Foundation if you think you have similar symptoms to me.