Muscular Dystrophy is an umbrella term for a group of muscle diseases.
There are nine forms (see image above), which then divide into many more sub-types.
The various forms of MD differ significantly in which areas of the body are affected, severity, rate of progression, and the age of onset.
Some are born with the condition, while others do not display symptoms until adulthood.
2. What causes it?
A faulty or mutated gene. It is therefore, a genetically inherited condition.
If one or both parents have the mutated gene that causes MD, it can be passed on to their children. However, this doesn’t necessarily mean the children will have the condition. But they may be carriers.
I have a rare form of congenital (from birth) MD, which is an autosomal recessive disorder, meaning you inherit two mutated genes, one from each parent – as shown in the image below.
I am the only known member of my family to be affected by muscular dystrophy. My unaffected parents (both carriers) had never heard of the condition, and so, it was a huge shock to receive my diagnosis at the age of 4.
3. What form do you have and how does it differ from other types of muscular dystrophy?
I have a rare form of congenital (from birth) MD, called Ullrich.
I have severe contractures in all of my joints (knees, hips, elbows, wrists), and a severe scoliosis (curved spine). As a result, my balance is very poor.
UCMD affects my respiratory function. 7 years ago it became necessary for me to use a BiPAP machine (non-invasive ventilation) nocturnally.
For me, a common cold can very quickly develop into a serious respiratory illness, such as pneumonia (which I’ve had numerous times).
I experience chronic fatigue due to the progressive muscle-wasting and my squashed torso, which prevents expanditure of my lungs.
I try to live as “normal” a life as possible, having attended university and learnt to drive (though this is no longer possible as my condition has deteriorated).
8. Pros and Cons of living with UCMD?
The cons of my condition are mostly listed in the previous answer. The most bothersome of these are the respiratory decline and chronic fatigue.
You might think being unable to walk would be the most frustrating thing. And while I do wish I could walk, jump and run, this has never really bothered me all that much. It is what it is, and you learn to adapt.
The pros I would say, include the network of people I have in my life, people I wouldn’t know if it weren’t for my condition.
I have made some amazing friends through blogging and living with muscular dystrophy. For this, I feel incredibly fortunate and thankful.
Other pros include my Motability WAV (wheelchair accessible vehicle), blue badge for free parking, and being able to skip to the front of the queue at tourist attractions!
9. Has it changed/got worse over time?
Yes, my condition is progressive and life-limiting. My symptoms have got worse over time.
The term life-limiting can, understandably, be scary for many to hear. While I don’t expect to live to be old and wrinkly, I have no plans to pop-off anytime soon!
After all, if you’re a smoker you are limiting your life expectancy!
As a child, I could walk short distances wearing custom-made leg splints.
Joint contractures and the severity of my scoliosis has increased.
My lung function is significantly worse as an adult.
10. What are some of the common misconceptions?
There are many! Here are just a few assumptions…
I have family members with the same condition (I don’t).
I can’t have children.
I can’t have sex or a loving relationship (some even assume I wouldn’t want to).
Many assume I can walk, even when I try to explain I am completely non-ambulant.
People think I take lots of pills and potions – if only there was a miracle cure! I’d take it in a heartbeat.
For more examples, check out this blog post I wrote all about societal preconceptions related to being a wheelchair-user.
I’ve read many trivial complaints on social media about the Coronaviruslockdown.
From park, pub and salon closures, postponed gigs and concerts, to cancelled botox, filler and wax appointments. Some are even moaning because they can’t race around and show off in their flashy cars. What a shame!
I appreciate we all have our own interests, outlets, coping mechanisms and methods of self-care. We all want to look and feel our best, and we all need somewhere to escape to.
But please, let’s try and keep things in perspective.
The current situation isn’t permanent. Of course, it’s tedious, stressful and frustrating, and will impact some considerably more than others. But it will pass and “normal” life will resume.
People on the frontline are literally risking their lives to help others – complete strangers. They are physically and mentally exhausted, yet keep going.
Carers continue to support the most vulnerable in society, despite the risk.
Key workers carry on working to ensure society functions and people are provided for.
On the upside, lockdown provides an opportunity for families to unite, spend quality time together and talk more.
But for others – men, women and children – being stuck in close proximity, unable to escape, can be a living hell.
The National Domestic Abuse helpline has seen a 25% increase in calls and online requests for help since lockdown began!
We all have problems and we are all entitled to feel and express what we need to in order to get through these trying times. Your experiences and frustrations are valid.
But please, keep in mind the medics, carers, key workers, the elderly, disabled, those living with domestic abusers and those separated from their loved ones.
Try to appreciate what you do have – for example, your health, home, and hope for the future.
When you’re feeling low, maybe write a list of all the positive things in your life and focus on that rather than the things you are currently missing out on.
Though we all must now adapt and change our way of life somewhat, it’s important to remember this is only temporary. Things will improve.
I’ve heard people complain about the restrictions; mostly young, fit, able-bodied people. Yes, it’s a pain in the fat ass! But it isn’t forever.
Also, please be aware that many disabled and chronically ill people are repeatedly forced into prolonged periods of self-isolation throughout their lives. Plans are often cancelled last minute due to poor health. This isn’t new to them.
So, before you complain because you can’t go out partying with your mates, or to the pub, please consider those for whom limitation and isolation is a way of life.
Show your thanks and appreciation for the NHS and those working in health and social care.
Be mindful of the most vulnerable in society, and help out if you’re able to.
Please don’t panic buy or stock pile. This isn’t the apocalypse, people!
All of this has made me think about relationships and what they really mean.
Valentine’s Day Selfies
We’ve all seen couples posting impossibly idealistic, airbrushed selfies on social media, making us believe their lives together are perfect and they couldn’t want for any more in a partner.
Ha! Who are you trying to kid? (Call me cynical).
But the truth is, when you live with someone, whether it be family, friends or a partner, you will inevitably, at times, rub each other up the wrong way and fall out. To think otherwise is, frankly, naive.
They may be senseless, petty disagreements or more serious conflicts. The important thing to consider is how you react and resolve such issues.
As the saying goes, never sleep on an argument. It may seem daft, but it’s true. An unresolved argument will just fester away.
It’s Good to Talk
Some people, somewhat understandably, choose to avoid any sort of conflict and refuse to acknowledge tension within their relationships; sweeping it under the carpet. This isn’t a healthy approach.
If you have a grievance, talk about it calmly and reasonably. Share your worries and concerns with friends, family and loved ones. Don’t bottle things up. Again, it will just fester away resulting in bitterness and resentment.
It’s Really Okay to Disagree!
We can’t all be the same. If we were, life would be very boring. You don’t have to like all the same things or agree with everything those around you think and feel in order to love them. I repeat; to think otherwise is, frankly, naive.
Kindness isn’t agreeing when you don’t, or avoiding potentially difficult conversations just to keep the peace. Kindness isn’t pretending to enjoy things you don’t simply to please others. Kindness isn’t inflating another person’s ego to make them feel good.
Kindness within relationships is about respecting each other’s views, differences, individuality and needs. It’s accepting that we are all flawed and forgiving sincere mistakes. Kindness is about caring enough to keep each other safe, supported and grounded.
This is not to say that the disability/impairment, whether temporary or permanent, is the primary cause of the mental health issue. It could be a contributing factor, or they may be completely unrelated. You might just be super lucky and have been blessed with both – Double whammy!
Equally, those struggling with their mental health will often (if not always) experience physical side effects, such as headaches, fatigue, insomnia, restlessness, nausea and chest pains.
Essentially, what I’m saying is, the mind affects the body and so the body affects the mind.
My Disability & Point of View
I was born with a rare form of muscular dystrophy – a physical disability – that has progressed over time. I am now a non-ambulatory wheelchair-user, having lost the ability to walk at age 10.
My condition has a considerable effect on my body and physical capabilities. With the best will in the world, there are many things I cannot do.
For example, my older brother is very fit and able-bodied. He has travelled the world and often goes trekking through the countryside and climbing mountains.
I often wish I could be out there with him. It might not be everyone’s cuppa, but it would be nice, just once, to experience that sort of thrill and adrenaline rush. A real physical accomplishment whilst being in the midst of nature.
But, I can’t. And I never will. Of course, this gets me down and impacts on my mood. Yes, I wish I could walk, run, dance, be completely independent and spontaneous. But I can’t. I am limited and reliant on support from others to live my life. This is something I have no choice but to accept.
There is no treatment, no cure, and no pill I can pop to help the situation. For lack of a better phrase, it is very much a case of, deal with it!
I cannot control my disability or how it affects my body. Therefore, it is important to focus on the things I CAN do and control.
I can’t dance, so I like to watch the dancing (yes, I’m a sad, old Strictly fan. Don’t care!)
I can’t drive, so I have a passenger WAV (wheelchair accessible vehicle), which allows me to get out and about.
I can’t walk or run, so I roll (with style)!
Admittedly, I’m pretty crap at sorting my own problems out. So I tend to focus on other people’s 😂 Not necessarily a good thing, but there ya go!
Living with a physical disability is a way of life. It is inflicted on us – we have not chosen this path. Similarly, living with a mental health illness is a way of life. So what you gonna do? ADAPT or Die!
People who know me well often describe me as incredibly private and somewhat closed-off. They’re not wrong. But I have my reasons. That said, I’ve been trying to open up a little more and share a closer insight into my everyday life in recent blog posts.
For me, 2019 really has been a year of major highs and lows.
The summer was genuinely the happiest time of my life. Everyone noticed.
Now, I’m the type to roll their eyes at the mention of people “glowing with happiness”, sceptical old bint that I am, but apparently it is a thing.
I was kinda hoping it would last longer than it did. But hey, that’s life.
Soon after my birthday came a swift punch in the gut (not literally, fear not!) and that marked the beginning of one of the unhappiest periods of my life. These things come to try us!
I’m not going to lie, this past month has been pretty crap.
Yeah, Christmas is a time to celebrate, have fun and be with those you love most. But it can also emphasise and remind you of what you’ve lost. And who you’ve lost.
I have some amazing people around me – family and friends. Thanks to those of you who patiently put up with me being a miserable fecker!
Some have offered wise words and advice, some have made me laugh when I really needed to, and others have simply been there to listen. You lot are what life is about (Ooh, deep!).
Let’s get this year out of the way and I promise, in 2020, I’ll pick myself up and get back to “the old Carol” ~ generally pratting about, laughing at inappropriate things and maybe even smiling occasionally 😱
A final word for anyone struggling for whatever reason…
I don’t want to get too serious. After all, it is Christmas – oh, joy!
Life ain’t all shits and giggles. I really wish it was. But it just isn’t.
Sometimes life gives you lemons (bastard lemons!) So what you gonna do? Throw ‘em back even harder, I say.
I may be pixie-sized but I’m pretty damn defiant. I’ve faced a fair few battles over the years. Truth is, the battle never really ends. But you gotta trudge through. What’s the alternative?
When I was 8 or 9, I fell off a horse. The horse decided she’d had enough of this trotting bullshit, and wanted to play silly buggars. She bolted downhill then stopped abruptly, throwing me forward.
I landed with my arse in a muddy puddle and lost my bloody boot. Yeah, I was a bit shook up. But I could either sit in that puddle and sulk (well, I couldn’t get up and walk off!) or get back in the saddle. So, I got back on psycho Sally!
Point is, life can be a bitch, but you gotta carry on and you gotta help yourself. Find what makes you happy and go for it!
I have a few things lined up for the new year, including some truly thrilling blog posts (I can sense the excitement already!).
Merry Christmas, folks. Take care! See you in the new year.
I have just turned 31 (sooo old!) and, in order to live my life, I require support from personal carers.
Today, I (well, actually my mother) received the following letter…
Now, don’t you just love it when so-called “professionals” invite themselves to your home to drink your tea and eat your biscuits at a time and date to suit them?
It seems the assumption is that disabled folk just sit at home all day, idly twiddling their thumbs ~ Nah, mate.
Not only that, they failed to inform me and instead wrote to my mother! WTF?!
I know I’m child-sized but I am in fact a fully-functioning adult who manages all aspects of her own care needs.
~ My disability!
~ My carers!
~ My business!
~ My life!!
I wouldn’t mind so much, only I’ve spent months jumping through hoops (not literally, obviously) and answering the most inane questions in order to qualify for NHS CHC (a continuing healthcare package – to pay personal care assistants).
*FYI ~ I am currently in receipt of Direct Payments, enabling me to employ and pay my own carers*
As yet, I haven’t received a penny via CHC, though I did get a call to say an initial payment was made during the summer. Nope, sorry, no it has not!
(Little tip for you ~ when it comes to NHS/council funded care, QUESTION EVERYTHING!)