Rare Disease Day - Muscular Dystrophy

"Rare disease day may fall on February 28th but for me I must live it with it every day as I do not get the luxury of getting the other 364 days off".

As we know February 28th is a day dedicated to acknowledging and raising awareness for rare diseases, with an estimated 300 million individuals worldwide living with these conditions. Muscular dystrophy (MD) is one such condition.

Muscular Dystrophy is an inherited genetic disorder that causes progressive muscle weakness and deterioration. There are many types of muscular dystrophy, but the most well-known include Duchenne, Becker, and Myotonic dystrophy. The type I have is Limb-Girdle Muscular Dystrophy (LGMD), and has multiple subtypes, each with its own progression and symptoms. As with all disease the progression and outcome for each individual case can differ. MD effects go beyond muscle loss. It is a total assault on your body, as it brings physical, emotional, and mental battles that impacts your everyday living and your overall quality of life.

My illness is not terminal as such, but it can cause other complications down the line as certain subtypes can affect the heart and lungs. The progression of the disease is unknown so because of this I am a ticking time bomb. I also am a breast cancer survivor so for me it is hard to deal with the fact I have survived a nasty disease such as cancer, only to be still left fighting a disease that has no cure or treatment. I am constantly living in fear of my cancer returning while I also must come to terms with MD. As I have said previously in my blog it is a cluster fuck of emotions when your mind is also battling with your body.

The Emotional Toll of a Diagnosis

Receiving a muscular dystrophy diagnosis is utterly devastating as it triggers a roller coaster of emotions, fear, denial, and uncertainty about the future. A diagnosis like mine not only has an impact on my life but it also affects the families of the individuals as they too may also have to confront the reality of living with a long-term, progressive condition as it’s an inherited genetic disorder. My grief is not a one-time event. The grieving process is ongoing as you gradually lose more of yourself to the disease. Sadly, the reality is you become a stranger in your own body, and that alone is difficult to comprehend. No one can or will ever fully understand this journey unless they are walking in my shoes. People may have empathy for you, but they will not fully grasp how it feels to face this reality every day. Even with a great support network, it can be a lonely path as you try to navigate life with this disease. It's hard for others to understand what I am going through when most days I struggle to grasp the reality of my situation myself.

Losing my independence is one of the hardest parts as I am slowly losing my mobility, my dignity, and the ability to perform everyday tasks without assistance. It is exhausting having to constantly explain what is wrong with me, and deal with the looks and nasty comments which I can receive, when all I am doing is just trying to live my life to the best of my ability. I am in my early 40’s, at present I still have a reasonable quality of life. I am still able to walk short distances with crutches, and I consider myself lucky to still have some level of mobility. But this is not the life I envisioned for myself. Some days, the weight of it all hits me like a ton of bricks when I least expect it. One of the many challenges I face is having to justify me trying to live a normal life and exist in a world where people simply do not understand. No matter what I do I am faced with constant judgement. Some people will question how sick you are really? As if I not allowed to try have a social life or go on holidays. All I want to do is have a reasonable quality of life and enjoy making precious memories and travel while I can with my husband. It is hard trying to exist in a world where you are being haunted by the ghost and the memories of the old healthy version of yourself. For me making core memories is essential for me emotionally and mentally as its these memories of good days I must lean on the most to have and to cherish especially when I am a having a bad day.

Please remember I did not choose this illness. I think the easiest way to try explaining my situation to people on the outside looking in is that my disease is my prison sentence, my body is my prison cell. I did nothing to deserve or cause this disease, as I did not choose this life. It is hard living with a condition like mine, especially when I know there is no cure, no treatment and I will never be in remission as my battle is ongoing. But I have no option but to try push forward while I can still tolerate the pain and all the emotions that come with an illness like mine. This is my life there is no happy ending for me, this isn’t a Walt Disney movie where happy endings exist, as my suffering will continue till the day I die. My life is hard, and I know it will only continue to get harder as I will have to endure more pain and suffering. As I said before in my blog this is not about me looking for sympathy, all I want is for the people who are reading this to try grasp and understand the harsh reality of living with an irremediable disease. Rare disease day may fall on February 28th but for me I must live it with it every day as I do not get the luxury of getting the other 364 days off.

The Daily Struggles of Living with MD

Daily life comes with a host of challenges, from accessibility barriers to physical limitations. Public spaces often remain inaccessible, with stairs, uneven footpaths, broken elevators, and limited accessible toilets and disabled parking. These are things healthy people rarely think about, yet they dictate my ability to move freely.

Inaccessibility strips me of my independence and of my dignity and it is soul destroying. Every outing requires research to determine if a location is accessible or has proper accommodations to facilitate my needs. The world still treats disabled individuals as an afterthought, making us feel like a burden.

Managing MD also means juggling medical appointments and daily physical therapy. But for me, one of the biggest struggles is controlling pain and fatigue. Most people do not realize how fragile our health can be. A single night of bad sleep or overexertion can have serious consequences. Extreme exhaustion increases the risk of falls and other health complications. I recently experienced this first hand after pushing myself too hard physically and emotionally, my body shut down. It led to a hospital admission for heart issues, triggered by exhaustion and extreme stress.

The Impact on Loved Ones.

Muscular dystrophy does not just affect those diagnosed it profoundly impacts family members and caregivers. I see this all the time. People often ask how I am doing, but rarely do they stop to ask my husband how he is coping. My husband is living this journey too watching the person he loves lose their strength and independence. This is one of the hardest aspects to process knowing your illness affects not only you but those you love. This is something I will talk about and explore further in my next blog.

A Call for Compassion!

On February 28th we recognize and honour those fighting and living with a rare disease. As we continue to advocate for access to medical care, treatments, and a world that is truly inclusive for all.

I encourage everyone to extend compassion to those facing these challenges. By building supportive communities and increasing awareness, we can ensure that those affected are not only seen but embraced and valued.

So please, be compassionate and respectful when addressing those who are struggling and be considered of their circumstances. I may have a rare disease, but I am still me, a young woman just trying to navigate life and my illness one day at a time and trying to live a fulfilling life to the best of my abilities while I still can. My future is uncertain as is everyone's, but in a world, where you can be anything just be kind!