February 2009
Tracy McCausland’s world was shattered when she discovered that the wonderful 13-month old son on whom she doted had muscular dystrophy. Here, she writes emotionally of the day she received the devastating news.
“None of us can ever be certain of what the future might hold for us and for our children, but most parents dream of what their children will be like when they grow up. I have no such luxury. The future is my nightmare. Just over a year ago, my world came crashing down around me, leaving the fractured pieces of my dreams for my child’s future lying shattered.
Sam was born happy and healthy on August 24, 2006 – a perfect little cherub to complete our little family and a little brother for Callum, who was just about to celebrate his fourth birthday.
Just three days later, however, everything changed when Sam got sick and was rushed to the neonatal intensive care unit at the Royal where, after performing a lumbar puncture, they told us that he had meningitis. Amazingly, he survived, and we considered him a very lucky little boy to have no long-term effects from his close brush with death.
As time went on, however we began to worry. Although he was hitting all his other milestones Sam seemed to be lagging behind physically (slow to crawl, not putting weight on his feet and not pulling up to stand). On October 11, 2007, at the age of 13 months, his consultant at the Royal suggested we run some tests - to 'rule a few things out.' Two hours later, our world was rocked to the core when we received a phone call to tell us that a very high concentration of a particular enzyme in Sam's blood meant that it was almost certain that he had muscular dystrophy.
The next few months are a blur, we barely functioned as the pain was just too great. Every time I looked into Sam’s big blue eyes, I wept tears of despair.
In January last year, a muscle biopsy confirmed the diagnosis. When we received the phone call from the neurologist, I fell on the floor and howled like an animal, it felt like the world had just ground to a halt.
The months that followed were difficult for us as a family, trying to get our heads around the facts of the disease. I spent literally hours every night researching on the internet, talking to other parents across the world. The facts relating to the disease are blunt and terrible: tiny errors in DNA mean that the body lacks the ability to produce a vital protein, meaning that over time, the muscles waste away leaving children unable to bear their weight and condemning them to a wheelchair. In time they lose the ability to swallow and have to be fed through a tube. The disease also affects the lungs, leading eventually, to need for ventilation. The spine becomes twisted, muscles develop painful contractures and in time, the disease takes its toll on the heart muscles.
I just couldn’t bear it - looking at my wee man, and imagining the horror and pain that his future would hold. The prognosis is grim and the doctors shrugged off any hope of Sam having the kind of life we all take for granted. What’s even worse is that there is no treatment for MD and we are still a long way off finding a cure (the reality is that as there are so many genetic variations of the disease, each type will require its own treatment - a daunting and near impossible task for scientists).
Decision
I still don’t know how we got through those initial months, but somehow we did. One morning, I looked at Sam’s big blue eyes and made a decision. I took a piece of paper and wrote a letter to Sam. In that letter I made a promise to my baby that I would not allow this disease to spoil one single day of the time we would have together and I vowed that I would do everything humanly possible to give him the future he deserves.
With the support of family and friends, we set up a fundraising campaign called 'Please Fix Sam'. Our original aim was simply to raise some money for research, but we rapidly realised that there is not only a shocking lack of funding for research into MD, but also a lack of public and political awareness of the disease. This awareness is vital, as in years to come, we may need political support for registration of orphan drugs or trials of new treatments.
Struggle Against Muscular Dystrophy was born as a charity in April of this year. (The name preserves the intent and the inspiration behind the charity, as we use the abbreviation S.A.M.) Our committee consists of volunteers from a range of disciplines - all these fantastic people give totally freely of their time and expertise. We decided at a very early stage that we would be a 'zero cost' charity, which makes us quite unique. I think sometimes people are put off giving to charity as they feel that a lot of funds raised go towards salaries, overheads, administration and so on. We have none of these expenses, meaning that every pound we raise will go straight to research.
S.A.M. has just received official charitable status in the last few weeks, and this should allow our fundraising efforts to take on an even greater profile. So far we’ve raised more than £40,000, but with a target of £500,000, we have a long way to go. So far our funds have had a tremendous boost from a parachute jump (26 lunatics threw themselves out of a plane for SAM). Sponsored cycles, coffee mornings, and school support have also been fantastic. What melted my heart was the work of the men of Imjin Company (2 Royal Irish) - whilst stationed in Afghanistan they raised more than £4000 by doing a stationary cycle on exercise bikes in searing 40 degree heat.
Our biggest fundraising event so far will be taking place on March 14 - the Emerald Ball. We wanted to have an opportunity to celebrate St Patrick’s Day with style! The ball will be held in the Europa and will be hosted by Jimmy Nesbitt and Emma-Louise Johnston. The full line-up for the event is top secret, but if the whisperings are to be believed, it will be a fantastic night out.
Watching Sam grow and develop into this fantastic, determined and wonderful little boy is a joy, but it is tinged with heartache for what the future holds. It’s hard to tell if Sam has any inkling that there is something wrong. At this point, he’s much like any other two-year old and the only time you really see a big difference is in the playground - Sam can’t climb, run or jump like other little boys and girls of his age. He falls a lot and has difficulty getting up from the floor and he gets physically tired very easily. Setting aside the fear of what tomorrow may bring in order to enjoy the time we have is the most important thing that we can do for Sam - and also for his big brother, Callum, who has his own share of difficulties (he suffers from severe global dyspraxia, dysarthria, sensory processing disorder and a catalogue of other challenges).
Sam is a fighter - he has been through a lot in his little life and without a treatment for this disease, he has a bleak and painful future ahead of him, but with our love and support he will have the best life possible.
His story has already touched the hearts of many people and I know that he is a very special person and I’m blessed to have him. My love for him is so immense, I look at him and his brother as they lie sleeping and my heart bursts with love for them both... unfortunately love alone cannot cure this disease, but I know that when he is older, in whatever state he may be, I will honestly be able to look him the eye and tell him that I did everything humanly possible to fix this for him.”
To find out more about Sam and about the efforts of Tracey and her husband, William, to raise awareness of this awful condition and funds for continued research, click onto www.pleasefixsam.com