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 8 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.
Nora started having symptoms when she was 3 months old and was diagnosed with a mitochondrial disease caused by ECHS1 deficiency at 18 months. At age 68she is unable to walk or to talk, she lost her sight almost completely. She is tube fed and suffers from mioclonic seizures and muscle spasms on a daily basis. We are trying to slow down the neurodegenerative process and maintain the remaining functions by a special diet, mitococktails and physical, occupational therapies. We live in Romania, Eastern Europe and there is no support for these therapies or the gene therapy as this is a rare disease and Nora is the only child diagnosed with this condition in our country. As there is no cure or treatment for our child’s disease, only gene therapy can save her life. The goal of the gene therapy is to replace the missing ECHS1 gene in the children suffering from its absence. It’s a long and expensive process but at least we have hope now.
Harold was born on February 24, 2017. He started showing delays at 6 months and started therapy. He had a mitochondrial crash at 11 months old and was diagnosed around 1 year. Leading up to that crash he had gotten a cold, ear infection and vomiting. He became feeding tube dependent after the crash because he had silent aspiration. He also has GERD and other tummy issues. He is unable to sit up, roll, crawl and walk because of hypotonia and brain damage. After the crash he started having movement disorders as dystonia and chorea.
Harold is on lots of supplements to help with energy. He sees many specialists to monitor everything that is affected or could be affected. Harold can say hi and mom sometimes.
Even though he faces many issues and struggles, he remains a happy boy!
Rome is forever 2 years old. When he was born he presented with a lactic acid level of 12 and spent a month in intensive care. Rome was diagnosed deaf after failing his newborn hearing test and was fitted with hearing aids shortly after. Rome was diagnosed with ECHS1 at age of 9 months after undergoing a skin and muscle biopsy.
Rome was learning well, was a couple months behind for his age range but was saying dad mum, nearly sitting unaided and rolling over, until November 2018 when he caught RSV and was left brain damaged. He lost all skills, smiling, body control and lost his sight. After spending 2 months in hospital, Rome is back at home doing very well, he had a feeding tube fitted but hasn’t regained much skills since.
We’re hoping that gene therapy will give our kids a chance in living a happier, healthier life, giving them the chance to explore the world without this horrible disease.