Fundraising initiative launched for young girl suffering with a rare genetic condition

A fundraising initiative is underway to help raise much needed money for specialist equipment, Trexo Robotics. Sophia has a rare genetic condition that affects her mobility, and her life can drastically be improved with the use of this equipment.   

GNA01 is a gene which everyone carries, this gene provides instructions to make the Gao protein which is found in the central nervous system. The GNA01 mutation diagnosis was discovered through genetic testing, many of the patients like Sophia, who are born with this neurological genetic disorder experience seizures, abnormal movements, and developmental delays in their infancy. Around 200 people around the world have been diagnosed with this rare condition and as genetic testing becomes more common the numbers have increased. 

The First GNA01 patients were only diagnosed in 2013, because of this, the scientific community is still beginning to realise the spectrum of symptoms and impact from mutations in GNA01.

Sophia’s Journey

Sophia was born in 2016, 18 months later she underwent a genetic test and was diagnosed with GNA01 mutation. As a result, she suffers from involuntary movements as well as being unable to sit up and walk independently.

In August 2021 Sophia underwent deep brain simulation surgery at London’s Evelina Hospital, after suffering numerous life threating involuntary movement storms during that year. DBS involves implanting very fine wires with electrodes at their tips into the brain by drilling two 5p sized holes into the top of the skull. The wires are connected to extensions under the skin behind the ear and down the neck, which then connect to a pulse generator. This allows electronic impulses to be sent to the brain, regulating abnormal communications that cause the symptoms of involuntary movement.

Sophia is now a 6-year-old girl, like many other girls her age she likes glitter, sparkle and all things the colour of the rainbow. She’s a determined little girl with a great sense of humour, always trying her very best in all that she can do. She always welcomes you with a smile.

There is no known cure for GNAO1. Attempts to manage symptoms often involve numerous medications. Most GNAO1 patients are non-verbal and wheelchair dependent. Some of the patients have intellectual disabilities, but many such as Sophia possess high cognitive function, then may be initially appreciated.

Trexo Robotics walker to help Sophia.

Donations with a goal to raise £40,000, will enable Sophia’s family to procure this fantastic new robotic invention to help Sophia, with the ability to walk for the first time in her life! In addition Sophia will be able to do so many things every child should be given the chance to – maintain an upright position facilitating bone and muscle growth, improve heart health, maintain her joint mobility, range of motions and manage muscle spasms, strengthen her core, stronger head control, improve her swallowing and respiratory control, improve her digestive health, better quality of sleep and provide her with better body alignment. 

Sophia’s life can drastically be improved with the use of Trexo Robotics. Everyone should have the opportunity to walk, Sophia can take that first step with your help and provide a huge leap in her development and quality of life.

To donate please visit: https://www.gofundme.com/f/helping-sophia-walk