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Pathfinders Neuromuscular life

Blogs, News and Features from the Neuromuscular Community

Rare Disease Day 2022

On the 28th of February 2022, Pathfinders will be celebrating Rare Disease Day!

Rare Disease Day is a global movement that works towards equity for people living with a rare disease. Since its creation in 2008, it has played an important part in building a diverse international community that is global, diverse and united.

Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year. Originally set up by EURORDIS and 65 patient organisations, it provides advocacy on local, national and international levels.

But what does it mean to live with a rare disease in the UK today? Sanjeev found out by speaking to some of our amazing Pathfinders members from around the world. They told him about their conditions, how they impact them, growing up with their condition and what gives them the drive and confidence to keep living their lives to the fullest!

The thoughts of a few Pathfinders members!

Neil Patel from New York:

“I have Duchenne Muscular Dystrophy. It makes you good at problem-solving, allowing you to accomplish anything you put your mind to. Although living with DMD is a constant battle trying to adapt to your body’s declining abilities. Everything you can manage to accomplish feels like a huge achievement.”

Emma Muldoon from Stirlingshire:

“Before I began to show symptoms, my older sister had already gone through the diagnosis of Muscular Dystrophy. It wasn’t until a few years later after tests and a muscle biopsy that we were both diagnosed with Limb-Girdle Muscular Dystrophy. Having someone close that had went through the same process made it a lot more comforting because apart from each other, we didn’t know many disabled people growing up, especially with a similar muscle-wasting condition. We’ve always been able to share similar experiences, struggles and changes in our abilities.

“Creating my blog, Simply Emma has also been a great way for me to share what it’s like living with a rare progressive condition and has allowed me to meet so many people from the disabled community all over the world. My disability plays a big part in my identity and has impacted my life in many ways. There are certainly challenges involved with having a rare condition like Limb-Girdle Muscular Dystrophy. Some days can be more difficult than others, but I’ve learned to embrace my disability and all that it entails.”

Follow Emma’s blog here

Hayleigh Barclay from Ayrshire:

“I have Spinal Muscular Atrophy type 2 which is a genetic condition affecting the muscles, spine and causes fatigue. Currently, there is no cure for the condition, however, for the past 8 months, I have been trialing a new medication – Risdiplam – which aims to improve muscle function. As with everybody, life has ups and downs, and in my case, it just so happens that SMA contributes to both. You quickly learn who are your “ride or dies” – those people who will be there through thick and thin, in sickness and health, not necessarily in that order.

“Everyone has an opinion. Everyone! Whether it’s how you look, how you manage care packages/health needs, your ambitions, your lifestyle… You’re going to hear what people think.

“Most people have good intentions, and for the rest, a metaphorical middle finger comes in handy. Somewhere between the awkward teen years, rollercoaster 20s, and my (whatever) 30s, I realised that I no longer cared (most days) what people thought. I didn’t have to be an inspiration or define/excuse who I am to fit their ideas of disability. It was a good day when I learned that lesson.”

Vicky Mozley from Essex:

“I have a Congenital Myopathy, which is a neuromuscular disorder that affects all of my muscles to some degree. My Respiratory system and leg muscles are particularly affected. Although my condition is not particularly progressive, my muscles are slowly deteriorating. I use a BiPAP ventilator each night and have done since I was 10 years old. A couple of years ago, I started using it to support my breathing throughout the day also, when I feel tired, get headaches or feel sleepy. I’ve used a wheelchair since I was 13, but could still walk or stand until I was 26 years old to some degree.

“After leaving paediatrics, I felt that I didn’t receive as much support from doctors, and a lot of them are unfamiliar with my condition, but luckily, I do have some very knowledgeable consultants who help out a lot if asked.

“Since joining Pathfinders, it has been refreshing to make friends with people in similar, if not the same position as me, and be able to pass on or receive advice, which is useful!”

To find out more about Rare Disease Day click here

To read more from Pathfinders Neuromuscular Alliance click here

Written by Sanjeev Mann

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