How it all started…

My son, Fraser, was born on 17th March 2013 and I fell in love the moment I laid eyes on him. There is something about a bond between mother and son that I cannot describe. I already had a daughter and I was overjoyed to now have a little prince to call my own. Life was simply perfect and complete and I was in a bubble enjoying every moment of my maternity leave.

But when Fraser was just seven months old I felt the bubble beginning to burst when I started to have some worries – he was very alert emotionally but he did not seem very strong. He couldn’t weight bear through his legs, sit up, roll over or push up onto his tummy. I took him to my GP, who agreed he felt a little ‘floppy’, and referred us to a local paediatrician.

Our first Christmas as a family of four passed and the new year of 2014 was soon upon us – little did I know that this year would be the worse of my life. The paediatrician checked Fraser over, took some bloods and booked us for an MRI scan, the results of which did not reveal anything untoward and we were delighted – there was nothing wrong!

Diagnosis of muscular dystrophy…

Two weeks later I received a phone call at work from the paediatrician – the blood tests, which we had not given a second thought to, had highlighted a higher than normal CK level – any result outside a range of 50 to 250 was considered abnormal – Fraser’s was 9,500. I didn’t know what this meant but she explained she had made us an appointment at Great Ormond Street Hospital for the following day, and it was important that we attended. It was then that it hit me – Great Ormond Street is where sick children go, you did not get asked to go there if there was not something very wrong – and then I began to panic.

At 11.15am on 19th February 2014, Fraser’s Daddy and I sat in a cold, clinical white room at the hospital, and were told our 11 month old baby son had muscular dystrophy. The first question from my mouth was “will my son die before me?”… “I can’t answer that” the consultant said. The rest of the day was a blur, the following days after that were a blur too – the overwhelming grief, pain and fear were relentless. Waking up in the mornings and for that split second forgetting everything and then remembering and having to deal with it all over again. We pined for the future that we had planned out in our heads, our hopes and our dreams that would now never be.

And then our new life started – a life of continuous medical appointments and tests. They needed to pinpoint exactly what type of muscular dystrophy Fraser had – blood test after blood test couldn’t find it, for five months we waited for test result after test result, but the results were continuously negative. At 18 months old Fraser had a muscle biopsy taken and the waiting for results began again. We then did what all parents are told not to do – we began researching ourselves…

We stumbled upon the most common and most severe muscular dystrophy called Duchenne. We asked our consultant if that is what he suspected – “absolutely not” we were told. Boys with Duchenne did not usually present with their symptoms until they were older, Fraser was a baby, it was ruled out. We began to feel more positive.

But in an ironic twist, on 15th September 2014, we heard the words “it’s Duchenne”. We had been right – maybe it was Mummy’s intuition. His consultant was so very sorry and explained how he was as surprised as us. But I didn’t hear anything he said. All I heard in my mind was “your son is going to die” – I knew what I had read and the outlook for Duchenne was far from positive.

My son’s body did not produce Dystrophin which is required to repair muscles – without it muscles waste away and die. This condition was progressive, Fraser would never get better – eventually the most important muscles in his body, his heart and his lungs, would not be able to carry on – it was 100% fatal and would take my son.

My mind raced with questions – would my son ever get married and have children of his own? Would he ever drive a car? Would he have a job? One day I would have to explain all of this to him and to the sister who doted on him. How would I ever find the words.

Usually a diagnosis of Duchenne would come at around four years old, when a boy started to become noticeably slower than his peers, would fall down more, start to walk on tiptoes and have problems with climbing stairs, running, jumping and getting up from the floor. But here we were, with a toddler who displayed none of these symptoms. We also found out that Fraser had a swallowing difficulty – he was aspirating his drinks into his lungs, making him a high risk for developing pneumonia and chest infections. A swallowing difficulty did not usually present until teenage years.

Unique presentation of Duchenne…

Fraser is considered somewhat of a medical mystery. He is 5 years old and cannot stand independently or walk. His care is shared between Great Ormond Street and Newcastle Hospitals and because of his unique presentation of Duchenne, our family are now enrolled into the 100,000 Genomes Project.

As Duchenne is, in two thirds of cases, passed from mother to son, I had to be tested to see if I carried the mutation. Carriers can develop cardiomyopathy in later life and it was important to have heart detection tests early.

I don’t carry the mutation and neither does my daughter, meaning that this was a spontaneous, ‘de novo’, freak of nature thing to happen – this was just as likely to happen to me as it was to you, your sister, your cousin, or any other woman in the street.

Life today…

Fraser is the happiest boy you could ever wish to meet, we are proud to be his Mummy and Daddy. His sister is amazingly kind-hearted and gentle with him, he could not ask for a more loving sibling. It is my job as his Mummy to make sure he always smiles, to ensure he grows up knowing that yes his life may be different, but it can still be fulfilling and amazing.

Life as we knew it before Fraser’s diagnosis does not exist; we are different people now living a different normal. But as time passes and acceptance comes, you start to realise that different doesn’t always mean bad. This road has connected me to some of the most beautiful human beings that I am now honoured to call my friends – those who are also on the same life journey as us, who we stand with, side by side.

I am extremely proud to be a part of Action Duchenne and to advocate for the community. From the darkness comes light and I have found my calling in life – when you are passionate about something it lights a roaring fire inside you. I will do everything I can to make a difference for us all.

Shelley Simmonds lives in Billericay, Essex and is our CEO.

  • Check out Fraser's Facebook page Fraser & Friends.

  • Read Shelley's  amazing blog as she gives a valuable insight into how her perception of 'perfection' has changed in the 4 years following, Fraser's diagnosis

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