The mum-of-two, from Billericay in Essex, explained how she initially became concerned after noticing muscle weakness in her son.
She said: "Fraser was seven-months old when I became concerned – he did not seem very strong, he couldn’t weight bear through his legs, sit up, roll over or push up onto his tummy. When I was told your son has a medical condition that has no cure my heart was broken into a million pieces.”
The life-limiting disease causes severe muscle weakness as sufferers cannot produce the muscle-repairing protein dystrophin. Without it, muscles gradually waste away, with life expectancy typically around 25 years. As well as dystrophin, the muscle repairing enzyme, CK, is essential and normal levels read between 50 and 250. Fraser’s was 9,500 when he was first diagnosed.
Shelley explained: “I wasn’t sure what this meant but the paediatrician made an appointment at Great Ormond Street Hospital for us the following day and said it was important that we attended.
"Then it hit me – Great Ormond Street is where sick children go, something was very wrong – I began to panic.”
Their precious little boy then underwent rigorous testing to determine the type of dystrophy - months later doctors were still baffled.
The family researched DMD and knew it was a death sentence but were later reassured as consultants informed them he “absolutely” did not have the disease as children with Duchenne do not present their symptoms until they are older and not in the manner which matched Fraser.
It was emphatically ruled out until a muscle biopsy revealed the truth and their world fell apart when they found out Fraser had Duchenne. Until Fraser, medics had never seen a Duchenne child that could not walk.
When they were given the diagnosis Shelley’s world fell apart “My baby, my prince, my very much wanted little boy has Duchenne muscular dystrophy - a condition which will waste away every single muscle in his body, finishing with his heart and lungs - taking him from me before he becomes a man. I will have say goodbye to my son. It's the unimaginable, yet for me, a reality that I live with day in day out.”
But the Simmonds have drawn strength from the “happiest boy you could meet” and are fighting back. This month saw Shelley take on an amazing adventure. Carrying four year old Fraser in a specially adapted backpack she climbed nine miles up Mount Snowdon with her close friends Jamie and Gemma to support her along the way.
Fraser has been in a wheelchair since he was 2 years old because he is not able to stand independently or walk so Shelley wanted to give him the feeling of a physical achievement, which otherwise would not have been possible. She tells us “I'm not fit and I'm certainly not thin but I carried him every step of the way to the summit, which we reached in just over 6hrs.”
As well as creating an amazing life experience and memory Shelley and her team raised £12,000, bringing her total fundraising amount to an incredible £50,000.
Shelley loved her challenge and is already putting her thinking cap on for their next adventure "My son has taught me more about life in his four short years than I learned in the 33 before I had him. So many people could learn so much from my amazing child.”
She adds “I am realistic about the future but if I can be a part of the puzzle that changes this for a future generation, if another family gets to see their son grow up, then I know all of this hasn’t been for nothing. This pushes me on to never give up – Fraser’s life will be for the greater good.”
We think that Shelley is a truly inspirational woman and we will certainly be following all of her adventures with Fraser.
Follow Fraser’s story here
Read more about Duchenne Muscular Dystrophy here