Gabriel, like many other children his age, enjoys playing games on his PS4, Minecraft, Lego, drawing and he loves to swim.
Ever since he could walk, Gabriel always complained of pain, long walks and playing in the park were particularly challenging. His parents didn’t think at the time it was anything serious, nor did they think it would turn out to be. Gabriel was not able to articulate clearly what was wrong or exactly where the pain was, so they took him see his GP. The GP sent him off for an x-ray of his hip but nothing was found.
One day he came out of school crying, he could barely walk and this promoted his parents to take him to the GP again, who noted his calf muscles were swollen. He was then referred for physiotherapy but after 3 months, there was no improvement and he was discharged back to the GP.
Giovanna and Terrence decided to go privately to see an Orthopaedic Consultant. It was first thought he had a bone deformity in his foot & could be operated on. This, however, was not the case. It was thought he could have some form of Duchenne muscular dystrophy which Giovanna later googled and was heartbroken to see Gabriel’s symptoms matched perfectly. He was then transferred to a Paediatrician who conducted a thorough assessment and ordered blood tests to rule out any form of Muscular Dystrophy. Giovanna and Terrence received a phone call the same day when the results came through, they were told he had some form of Duchenne muscular dystrophy and would be transferred back to the NHS to get his Care Package in place.
The local Paediatrician assessed Gabriel and felt he could have Becker muscular dystrophy rather than Duchenne muscular dystrophy because he was presenting quite late and was still fully mobile. The Paediatrician ordered a genetic blood test to determine which type Gabriel had. Six weeks later the results came through as Becker Muscular Dystrophy.
After the diagnosis, Giovanna and Terrence have received amazing care and support from the hospital and care team. The Clinical Nurse Specialist informed them about Muscular Dystrophy UK straightaway and they have found the information available from the charity very useful and the helpline always friendly and supportive.
The hardest part of this whole situation is living with such uncertainty, not knowing if and when things will progress and if they will how it would impact Gabriel’s life. One just doesn’t know, expect the fact that it is not going to go away … without a cure. So for now, we live in hope, it is all we have.
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Net proceeds from fundraising will be used to support research into Becker muscular dystrophy