LGMD "焦点访谈"

名称:  Rosamund  年龄: 43 years old

国家: England UK

LGMD 子类型: Not known; I am still going through the tests with the John Walton Muscular Dystrophy Research Centre in Newcastle UK.

您在几岁时被确诊: Following a medical through work in February 2017 the doctor was concerned with my muscle function. The suggestion that it was a type of muscular dystrophy was made in January 2018 after paying to see a neurologist privately in London.

您最初的症状是什么？:

I have suffered lower back pain for as long as I can remember. I fractured my back (lumbar number 4) in my early 20’s whilst show jumping; I struggled with my left hip and suffered increasing lower back pain and knee pain post the incident. I was tripping and falling occasionally for no reason. All the specialist that I saw attributed the symptoms to my back fracture apart from a hip specialist I arranged to see privately. My hamstrings, adductors and quads had pretty much switched off. The physio team got them working again but no matter how hard I worked we were not able to build up the strength. It was at that point I was advised to see a neurologist.

您是否有其他家庭成员患有 LGMD：

Not diagnosed. My full sister suffers with very mild weakness in her arms.

您认为在与 LGMD 最大的挑战是什么？

I have always been very active and love to be busy. I used to always cut it fine to get somewhere.

The biggest challenge is not being able to move quickly, climb stairs and generally rush about.

If I am commuting and I need to keep up with the crowd, carry a bag or am very tired I have to use a walking stick which has took some getting used to. If I am honest I really hate it.

您最大的成就是什么？:

From a young age I was keen to experience things and enjoy my life. I have travelled, worked in Uganda for a charity, played lots of sport and worked for the Olympic Delivery Authority in London building the 2012 games venues. I work in occupational health and safety and my time with the Olympic movement was the best and I am grateful at that time I had the energy and ability to do the commute and fully participate. Africa was an experience and a half; I don’t think I could do that now so my greatest achievement is getting on with my life, creating and taking opportunities. I am currently working on a major infrastructure project in the UK; I love major projects so getting to still do that and still horse ride (well sort of!) are accomplishments for me.

LGMD 是如何影响你成为今天的 成为今天的你：

I am still getting on with my life and creating opportunities but it’s different now. I used to be pretty fearless; however limited mobility, being unsteady at times and tired does affect confidence. That’s been tough to get my head round. When I was told it was probably a muscular dystrophy I cried in private every day for 6 months. The internet is an amazing resource but it can also be damaging. I could end up as I am now, a little worse or in a wheelchair on a respiratory with a pacemaker if I accepted all I was reading online. I didn’t tell a soul; I had no idea what to say or how to explain it. I was frightened I would lose my husband and my job. Who wants someone who can’t get about unaided especially in a construction environment?… I was facing a change I couldn’t control, I felt trapped and vulnerable.

I have learnt that you cannot control everything, to appreciate the here and now. I recall years ago taking a break to quickly walk my dog in-between working on the laptop. It was a standard Friday thing. Horse chores completed early morning, laptop on, quick whizz round the field at lunchtime. Laptop off about 6…glass of wine at 7! I don’t recall the scenery much or the stupid things my dog used to do other than they were stupid and normally involved me apologizing for him. I remember being glued to the phone during those walks. When I with my animals now I appreciate them, I appreciate the trees, the smells and the birds singing. I enjoy the here and now. I value the things I still have; my sight, my hearing and my sense of humor.

您希望世界了解 LGMD 的哪些方面？:

I jokingly describe it as an inconvenient condition that means I have to eat less and miss out on the extra slice of cake. On a serious note its really crap; the brain is amazing but cruel. I sometimes somehow forget I have the condition and go to move and just crumple. Having to think about how you walk and move about is exhausting. Fortunately, I have lots of natural energy that gets me through most days.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？ 您想做的第一件事是什么？:

Always wanting to pack a day full of stuff it would start with the night before; I would dance all night and have a few too many. I would insist on walking back home (I am imagining my perfect day is during the British summer when we actually get a good day) via an Indian or Chinese restaurant.

After falling asleep on the sofa with the dog I would eventually wake up and head to bed; crawling up the stairs due to a hangover rather than a muscle wasting disease. I would probably take a cup of tea with me which would remain by the bed until morning.

I would be up and out for an early morning horse ride with friends; having a good canter up the nearest hill to clear my head. The next task would be a lovely long dog walk up the biggest hill I could find and a pub for hair of the dog if I can face it and lunch with my husband. By the afternoon I would be snuggled up on the sofa with a pot of tea and a ton of chocolate.

I would be tired because I had not had any sleep and a load of fresh air. That “good tired” feeling.

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