A local family, the Melling family, are on a mission to save their son, Archie. Archie Melling was born on October 13, 2015, and although a little early, he was a happy, healthy little boy. He is the Melling’s third child, with older siblings, Phoebe 9 and Oliver 7. By the age of 13 months, Archie was a bubbly, curious and happy little guy. He was achieving all his milestones, almost walking unaided, eating independently and talking. On the 27th of November 2016, beautiful little Archie, experienced what is known as his first “Mito crash”.
Almost 8 weeks after Archie was born, in December 2015, their daughter Phoebe was diagnosed with a rare cancer called Rhabdomyosarcoma. Given the complexities/location of her tumor and their concerns about the only treatment available in Australia, Phoebe traveled with the family to the USA for treatment. After an 18 months fight through treatment, she has many side effects of the treatment that she and her family manage. However, she is now tumor free.
It was just 12 months after Phoebe’s cancer diagnosis, that Archie collapsed. Archie was transferred to the Royal Children’s Hospital, where he was placed into an induced coma. Once Archie woke up slowly, it became apparent that everything had changed. Archie had lost all of his skills, and was like a floppy rag doll, which stiffened with very painful muscle spasms called dystonia. Archie had a brain scan, called an MRI, which showed changes consistent with a condition called Leigh’s disease. Archie went on to have exome sequencing (a genetic DNA test), which took 3 months to come back. When it did, Archie was diagnosed with Short-chain enoyl-CoA hydratase, ECHS1 gene deficiency (ECHS1d). An extremely rare mitochondrial disease affecting only about 20 children worldwide. A cancer diagnosis for Phoebe was devastating, but Archie’s diagnosis was to be so much worse.
ECHS1 Deficiency and Leigh’s Syndrome are mitochondrial diseases. Mitochondrial diseases affect the ability of our body to break down food (metabolize) in order to produce energy. Most of the children affected by a mitochondrial disease don’t even have the energy to walk or talk. They are in great danger during infections and illnesses as mitochondria can be found in all the cells and it should produce energy. When it doesn’t work properly, the organs like the heart, liver, kidneys start to shut down because there isn’t enough energy to protect the body from the virus and to maintain the functions of the organs in the same time.
Archie is now 3 years old, he is quadriplegic, non-verbal, suffers pain from severe muscle dystonia (spasms), is enteral fed (a tube into his stomach) and takes many medications. Archie has frequent admissions to hospital, with chest infections and viruses. Archie loves music (his favourite being The Wiggles), riding his (fully gait assisted) tricycle, animals, hanging out with family and friends, going to kinder and foxes. He remains a bubbly and happy little man. When Archie was first diagnosed, the family were told there would probably never be a cure for him in his lifetime. However, much has changed recently in the world of genetics, doctors and scientists now see how targeted gene therapy is changing this. The team at UT Southwestern in Texas, America are starting pre-clinical testing for ECHS1. This need to be done now, in these children’s lifetime.
The family was told there will probably never be a cure for Archie in his lifetime and currently there is no real treatment other than vitamins. Life expectancy is unfortunately, largely unknown but usually only a few years after diagnosis. Targeted gene therapy is changing this, and is providing hope for the future.
Around $300,000 is needed to get the clinical trial started for Archie and the other children. The total cost is unknown, however, it is far in excess of this amount. Right now, gene therapy is Archie’s only hope for an improved quality of living and a longer life. It’s the only hope for kids with ECHS1 deficiency, which is why this special group of families are joining together to raise funds to start gene therapy for the children as soon as possible.
A gala dinner, Archie’s Embrace – Cure ECHS1D is planned for October 12th at the Regal Ballroom, Northcote. This fun night will have live band, beautiful dance performances, an exceptional 3 course meal including beer, wine and soft drink, with live auction and silent auctions. Please invite your family and friends to join them for such a wonderful cause. Tickets are available at www.curearchie.eventbrite.com.au
The family are also in need of items for the live and silent auctions on the night. It is expected that around 400 people will attend. All proceeds will be pooled together with the fundraising efforts from the families around the world, living with this diagnosis. If you prefer or are in a position to do so, there is also an opportunity to donate via Archie’s Gofundme page: www.gofundme.com/archies-embrace-cure-echs1d
The gala committee can be reached at archiesembrace@gmail.com
More information on ECHS1d can be found at www.cure-echs1.com
If you would like to follow Archie’s journey, it can be found on Facebook atwww.facebook.com/groups/167018914163302/about/