Finding cure for Sophie is what keeps me going

Jill Spence with her daughters  Sophie , Alexandra and Scarlett. Picture: Julie Bull
Jill Spence with her daughters Sophie , Alexandra and Scarlett. Picture: Julie Bull
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Sophie Spence is a little girl with a dazzling smile and the ability to light up a room.

For her loving parents, there is nothing more in the world they would like than to see her to join dozens of other excited children at a dance class, or to have fun playing on outdoor swings or a climbing frame.

But these simple childhood pleasures are out of reach for Sophie, because the eight-year-old is one of around 2500 people in the UK who suffer from the rare genetic condition Rett Syndrome – one of the most severe forms of autism.

The condition affects one in around every 12,000 births in the UK. Initially symptoms can be vague but include speech problems and losing the use of the hands, while some children stop using eye contact and lose interest in toys

The disorder, which strikes as little girls are just beginning to learn how to walk and talk, means that Sophie suffers from severe physical and mental disabilities.

She struggles to communicate and has breathing difficulties and mobility problems – even something as simple as getting to sleep at night proves difficult.

But there is hope. Research into the condition has suggested that damage caused to the brain by the 
condition is not permanent and could be treated in the future.

Later this month, Jill and a team of friends will take on the Great Edinburgh Run to raise awareness of the condition and vital funds which it is hoped will go some way towards finding a cure to enable Sophie to live a normal life.

The stay-at-home mum, 37, and her husband Alan, 41, a housebuilder, from Whitehill in Midlothian, found out Sophie had the syndrome in 2008.

Initially they had no idea there was anything wrong with their daughter, who was just learning to talk – using words like “mummy”, “daddy” and “doggy”.

But they began to notice rather than progressing, she was learning words and never saying them again.

Jill said: “She would say words but then forget them, so we took her to a paediatrician.

“The day we got the news, the doctor phoned us out of the blue. We had already had Sophie’s results and they had come back fine, so when the doctor sat us down and told us we were gobsmacked.

“It is very rare and the paediatrician had never come across it before. No parent should ever have to go through it.

“I slept in Sophie’s bed every night because I was frightened she wouldn’t wake up.

“I thought there had to be something wrong with the diagnosis because my daughter could talk and she could do some things, but I read up about it on the internet I saw that it was regressive and it made sense.

“Now Sophie doesn’t have any spoken language at all.”

The syndrome is caused by the mutation of a gene vital for brain 

A large proportion of people with Rett Syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.

Almost all sufferers from the condition are girls as the impact of the gene mutation for males is catastrophic. Boys born with this 
defective gene do not have a second X chromosome to make up for the problem, with the defect usually resulting in miscarriage, stillbirth or very early death.

Girls suffering from the syndrome are dependent on 24-hour care and their life span is shortened, but many live into adulthood.

Medication may be needed for breathing problems and motor difficulties, and anti-epileptic drugs may be used to control seizures. Despite the difficulties with symptoms, many individuals with Rett Syndrome continue to live well into middle age and beyond.

Finding out Sophie, who goes to Saltersgate and Tynewater schools, suffered from the condition had a profound impact on the family, including brother Harry, 12 and sisters Alexandra, three, and one-year-old Scarlett.

Jill said: “It’s really difficult for the rest of the family, but now we have become stronger and we have learned so much more about the condition.

“We don’t look too far in to the future, we just try to take each day as it comes and we have a great support network.

“The syndrome affects everything in Sophie’s life. She can still walk, but a lot of girls end up in a wheelchair.

“Sophie does a lot of hand tapping and hand movements, she can’t play because she doesn’t understand the concept, and she can’t go to soft play or very busy places because it makes her anxious.

“I try to keep her to a really strict routine – when she goes to school, when she gets a snack.

“To start with I didn’t want to get in touch with other families affected by it because their daughters might have been worse than Sophie – I didn’t want my future staring me in the face.

“But Facebook is a wonderful thing and I spoke to other families who have been affected and we support each other.

“I would love to take Sophie to dancing class with her sister, but she would just get too anxious.

“Sophie is an absolute delight – she has the most contagious laugh and she can light up a room as soon as she comes in. For what she cannot say, she can make herself heard.”

In January this year, Rett Syndrome was thrust into the public eye when the sister of Coleen Rooney, Rosie McLoughlin, died of the condition aged just 14 years old.

The teenager was adopted by Mrs Rooney’s family aged two.

Jill said: “When Rosie died, I think it came as a shock to the Rett community. Because Coleen is so well known, within a tragedy some good did come out, in that it brought the condition in to the 

And Jill has cause to look towards the future with optimism.

In 2007, researchers from Edinburgh and Glasgow universities, who studied Rett Syndrome in mice, found switching on a particular gene appeared to result in a complete recovery.

Professor Adrian Bird, director of the Wellcome Trust Centre for Cell Biology at Edinburgh University, led the research team.

He said the results, which were entirely unexpected, challenged the notion that brain conditions were 

“What we realised with this study, and what other similar findings suggest, is that we should question whether or not brain disorders are really forever or whether they can be reversed,” he said.

The affected mice shared many of the symptoms experienced by human sufferers. Largely immobile, they had irregular breathing, tremors, walked in a strange way and, in the case of males, died after about ten 

But once a particular gene was switched off, it appeared to result in a complete recovery.

The findings leave researchers with the task of understanding how the same results could be achieved with human sufferers. If this is achieved, it could pave the way for a cure not only for Rett Syndrome, but other 

Prof Bird said: “A lot of laboratories are pushing as far as they can to develop a cure but, as always, these things do not move as quickly as you would like them to.”

Prof Bird added the syndrome was one of only a few autism disorders linked to one gene, but the research gave the first indication that it might be possible in the future to repair damage caused by autism of other types.

For Jill, the findings have given her and her family hope.

“Potentially, Rett Syndrome could be cured in Sophie’s lifetime – it’s going to happen, it’s just a question of when.

“I’m not satisfied, I can’t let Sophie live her life like this. I do hold on to the hope that there is a cure – that’s what keeps me going.”


Rett Syndrome is a rare neurological disorder affecting mainly females and very few males.

It is a debilitating disorder which most often strikes very young girls just after they have learned to walk and say a few words and begins to drag their development backwards.

It affects one in between 10,000 and 15,000 births and there are believed to be around 2500 people living with the condition in the UK.

A large proportion of people with Rett Syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.Those affected by the condition lose acquired skills, normal movement and speech and are left unable to communicate or use their hands to hold, carry or manipulate objects.

Epilepsy, chronic spinal curvature and breathing and feeding difficulties are also common features.

Complications include disordered breathing, severe digestive problems, seizures and extreme anxiety.

Most girls with Rett Syndrome survive into adulthood, becoming increasingly more disabled over time. They require one-to-one, 24-hour-a-day care for the rest of their lives.

Genetic but not hereditary, it could occur in any family at any time.

At this time, parents who discover that their daughters have this condition have no real treatment options and the prognosis for families living with Rett Syndrome has always been poor.

But the reversal experiments of 2007 catapulted the possibility of Rett Syndrome becoming the world’s first curable brain disorder.


On Sunday, July 14, Jill Spence and a committed group of seven fundraisers will take part in the Bupa Great Edinburgh 10K run.

All the money raised by the team will go towards Rett Syndrome Research Trust UK.

The charity was formed in July 2010 as a grassroots effort by a small group families of girls with Rett Syndrome who wanted to impact the speed at which promising research developments in the field could be translated into treatments and cures for the condition.

It remains the only UK-based charity exclusively focused on speeding treatments and cures for Rett Syndrome.

To donate to Run for Retts Edinburgh, visit