A young Edinburgh patient who was diagnosed with a complex neurological condition which was only discovered ten years ago has rung the bell after over 170 days in hospital.
Quinns Rutherford, seven, was eventually diagnosed with an extremely rare condition known as GNA01, which is thought to affect only 300 people worldwide.
In September 2022, Quinns' mum Jennifer and dad Alasdair noticed he started to become unwell and was experiencing involuntary movements. From an early age, Quinns was thought to have cerebral palsy which was originally linked to the movements he was experiencing.
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Quinns, who is nonverbal, became rapidly unwell and was moved from Forth Valley Hospital, near their home in Stirling, to Edinburgh's Royal Hospital for Children and Young People, where he was put on a ventilator to help him breathe.
Quinns spent a month in critical care in Edinburgh before being flown down to London to undergo what has been described as 'life-saving treatment'. Now, 171 days since he was first admitted to hospital, Quinns is back at school part time and enjoying life once more.
Speaking to Edinburgh Live about her son's health journey and the impact it had on her family as a whole, mum Jennifer, 44, said: "He just wasn't very well at all. He was transferred to Edinburgh where they had to sedate him to try and stop the movements as they were so severe. He had to be sedated so much he had to be put on a ventilator to keep him breathing.
"They couldn't figure out what was triggering the extreme movements. A consultant in London suggested that rather than cerebral palsy he had a rare genetic condition called GNA01 which was causing a 'dystonic storm'.
"Quinns was off school for two weeks before he went into hospital but it didn't seem like anything major. He began to have moments when the movements were really extreme and the hospital didn't know what was causing them."
According to Jennifer it was difficult for doctors to determine the cause of the movements as Quinns is nonverbal using a range of facial expressions, sounds and eye gaze to communicate.
The rare condition which Quinns has been diagnosed with, GNA01, roughly affects between 200-300 worldwide and according to Rare Diseases, it is "a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements.
"Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue."
Jennifer continued: "GNA01 is a movement disorder that looks very similar to cerebral palsy. It was only discovered in 2013. There could be others who have been diagnosed with cerebral palsy who actually have GNA01.
"We are really thankful to the medical teams in Forth Valley, Edinburgh and London. It was terrifying as we didn't really know what was going on. We were completely out of options so the trip to London definitely saved his life.
"We spent a week in Forth Valley hospital, we were a month in Edinburgh then two months down in London. At the end of December we came back up to Edinburgh and we had two and a half months in hospital here, we got back for a few nights then he was back at Forth Valley for a week.
"So it was almost six full months across the three hospitals. It's been a very difficult time for us all. Quinns' older sister Anita has been great through it all. The four of us went down to London but when Quinns and I were in Edinburgh we had separate households during the week to keep some normality for her. We were all very well supported by the Edinburgh Children’s Hospital Charity while we were in Edinburgh."
Since ringing the bell, Quinns has been looking 'really good' and even returned to school part time as well as continuing with his activities as Jennifer is over the moon to see her son enjoying life once again.
Despite certain trips to and from the hospital to keep on top of Quinns' condition, Jennifer hopes that he is over the worst of it. To donate to the Edinburgh Children's Hospital Charity and to read more about Quinns' story, you can do so here.
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