The company is established to be a charity with the principal purpose to promote the prevention or control of diseases caused by gene deficiency, by undertaking the following activities:
To provide funding for research, clinical trials and other similar activities aimed at a cure or treatment for people with ECHS1 gene deficiency, mitochondrial disease or other gene deficiency diseases or conditions;
To provide funding for treatment or therapy that may provide a cure or improve the quality of life for people with ECHS1 gene deficiency, mitochondrial disease or other gene deficiency diseases or conditions;
To conduct fundraising activities, to fund such research and other activities;
To raise awareness of diseases and conditions caused by gene deficiency.
Archie's Embrace - Cure ECHS1d
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 6 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 school and foxes. He remains 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.
Ros is a mum, nurse and advocate.
I started Archie's Embrace - cure ECHS1d, to promote awareness and fundraise for a cure for our son.
Chrissy is a mum, lawyer and advocate for ECHS1d,
Andy is a Director of a Financial Planning, Mortgage Broking local business.