Ezra's mission

On the 17th of May 2023, just a few weeks after our son turned 2 years old, we received the worst piece of news any parent could ever receive. Ezra was diagnosed with Duchenne Muscular Dystrophy (DMD), a rare X-linked, neurodegenerative muscle wasting genetic disease. It is caused by a mutation in the gene, that encodes the dystrophin protein. This gene is the largest in the body with 79 exons, and its size makes it prone to mutations. The dystrophin protein protects working muscles from damage.

Duchenne affects 1 in 3500-5000 males and can be passed from parent to child, or it can be the result of random spontaneous genetic mutations, which may occur during any pregnancy. In fact, about one out of every three cases occurs randomly in families like in our case with no previous history of DMD.

Normal functioning of our body and organs depend on muscle. Duchenne affects all muscles: skeletal, cardiac, respiratory and smooth. Typically boys with DMD will lose the ability to walk and will need a wheelchair between ages 8 - 12 years and may progress to lose the use of their arms by their teens.

Duchenne's effect on the most important muscle in the body, the heart as well as the respiratory muscles sadly means that affected children may become reliant on the use of a ventilator as they get older and are commonly not be able to survive beyond their late teens to early twenties due to complications of cardiorespiratory failure. There is unfortunately still no cure for this dreadful disease and it is 100% fatal.

Ezra, like many babies and toddlers presents as completely healthy, thriving and meeting all milestones in these early years before the disease becomes apparent between 4-6 years of age.

Our dear wish is to take this burden from him. He is just a baby and it seems such a cruel fate.

Whilst his life may be more challenging than most, it will not be any less valuable and we will strive to provide him the best treatment available whilst making the most of everyday life as a family. There are treatments for which Ezra may be suitable which are currently available in North America but which are still only in the trial phases in the UK and which may or may not become available on the NHS.

We will fight with everything we have for Ezra. We will be joining fundraising efforts for more research to find a cure and strive to give him the best life we possibly can. We are fundraising for 3 possible outcomes.

1. To make regular donations to Duchenne UK in their continuing search to find a cure for Ezra and all other boys affected by DMD. As the UK's leading Duchenne muscular dystrophy (DMD) charity, they connect scientists, industry, the NHS and families to accelerate research and bring the best care and treatments to everyone affected by DMD.

2. In order to be able to fund treatments for Ezra which have been approved abroad but which are not yet available in the UK. Time is muscle with Duchenne and as babies become children, there is a rapidly progressive loss of muscle. In order to access some of these treatments, though extremely costly we would want to be in a position to travel out of the country to access them. Where possible, we would prefer to stay in the UK as we believe this would be best for him but trials are slow and sadly, the degradation of muscle does not wait.

3. Whilst we continue to hope, we are realistic that Ezra's life will likely be affected by disability and for this we are preparing to provide him all the support that he will need physically and emotionally. From wheelchairs to home adaptations, we are determined to provide him all that he needs.

Our ultimate aim is to save our baby's life. Please help us in doing so.

We are very grateful for all donations large or small and we will continue to update this page as things change in the future.

Join his instagram page (@ezras.mission.to.end.duchenne) for regular updates on all things related to Ezra and his mission to end Duchenne.

From,

Ezra's Mummy, Daddy and big brother Zachariah.