We are fundraising for a life changing life long intensive therapy which will give Harriet a better quality of life.
Harriet is nearly 4 years old from Camden in London. She has been diagnosed with a rare genetic condition where there is a mutation with her GNAO1. G Protein Subunit Alpha O is a protein coding gene. The GNAO1 neurodevelopmental disorder was diagnosed through genetic testing. Like many others Harriet began experiencing seizures, abnormal movements and developmental delays. Some scientists suggest that GNAO1 could become one of the more common rare diseases around the world as the cost for diagnostic tests is reduced and more patients are tested. In fact, the first GNAO1 patients were only identified in 2013.
There is no known treatment or cure for GNAO1. Attempts to manage Harriet’s symptoms involve numerous medications. Most GNAO1 patients are non-verbal and wheelchair dependent. Some of the patients have intellectual disabilities, but many possess higher cognitive function than may be initially appreciated.
With Harriet’s case we are fortunate that she is showing some independence in learning how to walk with the help with a number of intensive therapies including physio (CME) therapy, SLT (Prompt) therapy and occupational therapy.
This campaign is to help us continue Harriet’s intensive therapy which cost £40,000 a year.Continuing these therapies will help Harriet considerably further in her progress.
Let’s give this amazing hero a great chance in life!