Archie’s Embrace- Cure ECHS1D

There is hope, but we need your help!!

On the 27th of November 2016, our beautiful little Archie, experienced his first Mito crash! Prior to this, we never knew anything was wrong. This was just 12 short months after his sister was diagnosed with Rhabdomyosarcoma, but this was to be so much worse.

At 13 months, Archie was a bubbly, curious and happy little guy. He was achieving all his milestones, almost walking unaided, eating independently and walking. Overnight, after a gastric illness, all these skills were lost.

Archie is now 3 years old, he is quadriplegic, non-verbal, suffers pain from severe muscle dystonia (spasms), is enteral fed and takes many medications. Archie has frequent admissions to hospital, with chest infections and viruses.

Archie loves music, riding his (fully gait assisted) tricycle, animals, hanging out with family and friends, going to kinder and foxes. He remains a a bubbly and happy little man.

When Archie was first diagnosed through exome sequencing, we were told there would probably never be a cure for him in his lifetime. However, we now see how targeted gene therapy is changing this, are need to start pre-clinical testing for ECHS1. We need to do this in their lifetime.
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Ros Melling
Ivanhoe East VIC

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