On Monday 20th July I heard the words ‘Duchenne Muscular Dystrophy’. My son had gone to a paediatrician’s appointment for what I thought was to help his tight ankles. I left the hospital, holding my son’s hand, having to put my sunglasses on to hide my tears.
It all started when I took my son to the GP when he was 3 years old. I had concerns that he was not yet jumping or keeping up with his peers. The GP looked him up and down and said, “He is a healthy boy, just look at his calves.” Eventually, he did manage little jumps and developed a slow run but as he got older things didn’t improve. Once we saw how his mobility issues were continuing to cause him difficulty, he saw a physiotherapist for an assessment.
Little did I, or even the Doctor, know that day when he was 3 that not keeping up with peers physically and very large calves are signs of Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy (DMD) is a degenerative muscle-wasting condition that mainly affects boys. Around 100 boys born in the UK each year are affected by this rare and fatal disease.
He has just turned 7 years old. He can walk, cycle, play in the park, jump on trampolines climb… you name it! He has bundles of energy. He struggles to concentrate, particularly at school. People with the condition are prone to specific learning differences and Autism Spectrum Disorder (ASD), Attention deficit hyperactivity disorder (ADHD) and Obsessive compulsive disorder (OCD). Better care and recognition of the effects on the brain for people with DMD is really needed.
Spreading awareness of this rare disease will help children get diagnosed as early as possible. Lack of awareness of DMD in first-line health care professionals is a major factor that contributes to a delay in diagnosis.
We now join 250,000 people around the world in our fight to live with DMD. It takes a large team of health professionals to support people living with DMD from Occupational Therapists to Cardiologists. My aim is to make sure my son has every opportunity any normal child would, and to have him with us for many more years to come.