Marley and Mum​



Making the world better one smile at a time

Blog

Tormenting Battles

I always imagined Marley would be a footballer. Running around the pitch and flashing his big eyes at lady supporters in the crowd. Sometimes I have the reoccurring dream I can’t find his football boots, his kit and I can’t understand why he isn’t prepared for the big game. The big game is a metaphor I’ve come to learn for his life. His team opponent is his illness and the kit I can’t find is the cure and viable treatment which is so hard to discover as we live with the harsh reality of being diagnosed with a rare genetic disease.

Click Here to Add a Title

Before I started to really understand my journey with Marley I knew next to nothing about the impact rare disorders have on society. Over the past few years I have learned that rare diseases play a larger role in public health than most people realize and deserve consideration from the medical community, policy makers, and the general public especially in Portugal but across the world. A rare disease is defined by the National Institute of Health (NIH) as any disease that affects less than 200,000 people at a given time.

 

But rare diseases are not that rare... While each individual rare disease affects only a small percentage of the population, there are over 7,000 rare diseases. When combined, they collectively affect 10% of the general population or 30 million people. Of these 30 million people, roughly half are children and 4.5 million of them won’t live to the age of five. Those are huge statistics and this journey has introduced me to sufferers and parents of many... My own son included.

Pillar to post...

Currently my position is a very difficult one. I travel back and forth with Marley to receive treatment; he is incredibly poorly, heavily medicated and has become incredibly frustrated with his little life. We get pulled from pillar to post and are asked on almost a daily basis what the plan is? If I knew the future I would sing it from the rooftops but quite frankly I don’t. We still have around 2 months left of treatment and now Marley doesn’t need just one operation, he needs multiple life changing procedures. Which some days becomes a bit too overwhelming for me.


The last few months have really made me realize who my true friends and supporters are. Dealing with children and disease isn’t for everyone and I don’t even blame the people who haven’t been as supportive as others. The fact is we live in a happiness-obsessed society and Marley just isn’t that poster child at the moment. I find some of my old friends avoiding me as it might make them feel sad or uncomfortable. But what they don’t realize is we don’t have to talk about medications and life expectancy... We’d be perfectly happy with the latest reality TV program or a restaurant they tried out recently. However as much as some people have avoided us, an even larger amount of friends have come forward. Picking up and salvaging even the most minuscule of pieces on a daily basis. True friends.

Mummy can't fix it this time

Marley sometimes asks me ‘mummy are you sad?’ and I pull him into my arms and tickle away his question. Sometimes I just feel overwhelmed that I don’t have the kit he needs. Mummy can’t just fix it this time. He is the best thing that ever happened to me, and like any mother I just want him to live the best life he can do. I will strive to make it as good as I can for him but I do sometimes wonder how when genetic diseases bring up so many constant battles and surprises. His effects so far his brain, heart, muscles, bones, stomach, liver, spleen... And I’m probably forgetting many.


Rare disease brings me brokenness into my universe. A constant replay of death and sickness. Loss and disappointment mixed with the very real and valid joy and happiness of finding a doctor who will help or him keeping dinner down this evening. I sometimes put on a perfect facade but I’m coming to learn I must hold the brokenness in my hands. Otherwise how can I show him how to be happy with our small battles?

I'll probably regret saying all this but...

Of the 7,000 rare diseases only 4% have an effective treatment. When Marley was diagnosed with a rare genetic disorder I thought I’d feel relief. The agony of watching helplessly as his health declined and visiting expert after expert who all seemed baffled by his condition appeared to be at an end. I was wrong... Until the neurologist’s next piece of information. The disease is progressing in ways they weren’t expecting and they couldn’t predict the future... Even less than before. And there is no cure. While our family was “lucky” to have at least had a treatment option for slowing down the disease progression, there is little to nothing the medical community can do for the vast majority of children diagnosed with a rare disorder.


Labels are comforting and secure. I’ve always had comfort in labels and lists so Marley’s condition has been the hardest thing for my mind to accept. Accepting I don’t always have the answers and I will never know what is coming. Day by day I learn to deal with the unexpected and endure the pain of the loss of my little boy’s happiness some days. I miss being care free and being able to act freely. Once disability and illness becomes part of your life normality changes.


I write this in the hospital after a very difficult day yesterday and I will probably regret typing all of this in the morning. But I made this blog to guide and raise awareness for others, and this is such a low point for me it only seemed fair to share this side too. It’s not fair of me to pretend like this is always easy – the wheelchairs, the pills, the side effects. It’s not always sunshine.

The limited paint box

Marley was a spunky, beautiful and colorful character with a life of breathless wonder ahead of him. Now I have to create as much wonder as I can with a more limited paint box. I had already woven more hopes and dreams into his future that I could count. I try and ensure the best quality of life possible and adjust my expectations as I go. With every new piece of nightmarish diagnosis I try and shift my parental paradigm to what his future may look like. He has to use a wheelchair full time – ok let’s change mentalities about sport for the disabled in the Algarve. He’s regressing in his speech – ok let’s find other ways he might like to express himself. He has to leave school and might not return – ok I’ll make him a school of his own. Whatever battle he gets given, I’m determined to fix it in my own way.


Rare disease research faces practical challenges that, if solved, could shift thinking for how medical research is conducted in the industry as a whole. There are a number of barriers inherent to researching rare disorders. Patients are often scattered over a large demographic and even finding an adequate number people affected by a particular disease to conduct a well-designed clinical trial can be challenging. Additionally, medical literature describing key characteristics of a particular disease are scarce or non-existent, making it difficult for experts to build on previous knowledge. Let alone the average Joe like myself who wants to have a gander! The current, traditional model of research and drug development that conceives of research results as intellectual property and sets up competition among researchers is unrealistic with such small patient populations. In order to overcome this barrier, some rare disease experts are leading advocates for revolutionary new research models that are more collaborative and open-sourced. This shift in philosophy to sharing vital research results more openly will benefit drug discovery as a whole by potentially reducing the costs and inefficiencies associated with replicating research in drug development.

Learn More

Countless acts of care and tangible acts of love

As much as each day hurts I know it all comes with the nature to parent. No matter what illness your child may have, this is what parenting is. Countless acts of care and tangible acts of love. And as my world develops I know this journey to parenting Marley will also lead to helping others. Even if it’s someone reading and relating to this very article, dealing with a rare illness of their own. While Marley sleeps on his darkest of days I have promised him I will do all the good he would have done if he had the power to do it. It’s my driving force and a crystallized choice as living or caring for a child with a rare disease is so hard.


Researching rare genetic disorders will increase the chance of finding cures for more common diseases. Many rare diseases of a genetic nature are “single gene disorders” (the result of just one faulty gene). By contrast, many common diseases are polygenic (the result of the interaction of several different genes) and multi-factoral (in part due to many factors such as life-style and environment). The ability to isolate the single cause of a rare disease simplifies the research process since there are fewer variables to consider. Diseases such as Alzheimer’s and multiple sclerosis whose symptoms don’t show up until adulthood must be studied taking into account the many factors that have influenced the disease process over the course of an individual’s lifetime and may benefit from the information that could be learned from similar degenerative rare diseases. And what about the parents who don’t even know where to begin with this stuff? If this baffles me as an A level biology teacher... what about the rest of us?

Orphan diseases

I often get asked how do I do it? I’ve written about that in my Confessions article. But I fight tirelessly to raise money for the treatment and medical procedures Marley needs, promote raising awareness and obsessively research for anything that might help him or other children. So that at the end of the day it isn’t anything special, any parent in my boat would do the same. What’s the alternative? No matter what happens to Marley I will always be his mother, even when society asks me to battle being a parent and a carer. I will always be his mother and try and help other parents who go through these battles too.


Until the last couple of decades rare diseases were truly neglected in the medical community and by society in general, even earning them the nickname “orphan diseases”. Every day I get people wanting to get a concrete answer on Marley’s illness, myself included. But with genetic disorders that is rarely possible. The term ‘orphan’ is so negative until I learnt that in 1983 the Orphan Drug Act was created. This landmark piece of legislation provided a set of incentives that encouraged the pharmaceutical industry to consider rare disease drug development as a profitable business prospect and thereby increased interest in rare diseases in the private sector. Less attention, however, has been given to the creation of public institutions that support research crucial to medical advancement in genetics, which would greatly benefit the rare disease community. And a huge benefit to Marley and other children like him.

Every child deserves a fight!

The formation of a number of departments within the National Institute of Health such as the Office of Rare Disease Research and the Office of Rare Disease Research at National Center for Advancing Translational Science are hubs of cutting-edge research that provide the essential knowledge advancements. The pharmaceutical industry then uses these advances to develop life-saving drugs for rare diseases. Rare disease treatments depend on these public-private partnerships. Without this synergy millions of children with rare diseases would be completely excluded from opportunities for medical advancement available to children with more common diseases. Marley is part of this exclusion and I live and breathe every day to find him someone to help.


As a society we operate under the assumption that each child born into this world is owed a certain set of opportunities and protections. We fund public education because all children deserve an education. We fund federal departments that prevent child exploitation because all children deserve protection. Let us continue our commitment to each child born into this world by agreeing that every child deserves a treatment option no matter how rare the disease. I want to be able to always find Marley’s football kit in my dream because every child deserves the chance to fight.

Click Here to Add a Title

Subscribe to Marley and Mum


Subscribe