in August 2017, Ben was referred to a Paediatrician due to his propensity for falling over and hitting his head. Little did we know that this would be a life changing appointment.
Just 6 days before Ben was to start Reception, he was diagnosed with Duchenne Muscular Dystrophy. Duchenne MD is one of the most common fatal genetic disorders to affect children around the world. 1 in 3500 boys are affected with DMD. It is a devastating, progressive and currently incurable muscle-wasting disease.
Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin, a protein that plays a key structural role in muscle fibre function. Boys with DMD do not produce dystrophin.
Needless to say, the diagnosis led to a time of reflection, research, many visits to doctors, neurologists, physios, occupational therapists, orthotists and most importantly long cuddles and time together.
Ben continues to blow our minds with his resilience and positive outlook, although he does know that something is not quite right.
What can you do - just be there. We are still learning and putting together a plan for Ben. We continue to keep life as normal as possible and that's all we ask from our friends.