Hope for my daughter: Doctors reverse rare autism disorder in mice that robs girls of their speech and movement
Rett Syndrome affects one in 10,000 girls. They typically show symptoms after their first birthdayIt is the most physically disabling form of autism, but scientists believe they are close to finding a cure
16:27 GMT, 19 March 2012
A father has spoken out about a cruel condition that has robbed his daughter of her ability to walk and talk, after scientists made a breakthrough that could lead to a cure.
Marc Souter's daughter Dylan was born in July 2009 and by the time she was one had learned to crawl and say a few words and was poised to start walking.
Dylan had learned how to pull herself upright when she was one (left) but then her development started to regress and she stopped speaking and trying to walk (right)
'She was like any other little girl,' Mr Souter, 36, said.
'She was hitting all her milestones and crawling around making a nuisance of herself pulling things off surfaces.'
But then Dylan's development faltered before going into reverse.
Marc and wife Jenny, 36, could only watch as she became confused and withdrawn. She stopped crawling and suffered from terrible headaches and muscular pain.
'We were told not to worry at first but I could see she was losing lots of skills,' Mr Souter said.
'The last time she said Da Da she was 14 months old. She hasn't spoken since.'
'The worst thing was when she stopped looking up and smiling at me when I came into the room.'
Dylan, 2, with her mother Jenny and older brother Drew on Mother's Day, 2012. Dylan becomes frustrated that she can't speak or move easily
Shortly after her second birthday a genetic test revealed Dylan had Rett Syndrome – a severe autism spectrum disorder that affects
roughly one in 10,000 girls.
It is caused by mutations in the gene MECP2 found on the X chromosome. While boys with the disease only survive a few weeks, most girls with the condition only start displaying symptoms after their first year.
'Girls with the condition are not brain-damaged,' Mr Souter, from Richmond, said.
'But they have a single faulty gene that condemns them to be locked inside their own bodies.'
Marc with daughter Dylan when she was developing normally
While many girls with Retts survive into adulthood they need 24hour-care. There is no known cure.
But now scientists have made a breakthrough that could combat the devastating condition using bone marrow transplants.
'It's such a horrible, brutal condition so the fact there could be a potential treatment fills us with a mixture of hope and elation,' Mr Souter said.
Scientists from the University of Virginia School of Medicine in Charlottesville, speculated that the brain-dwelling immune cells called microglia are defective in those with the syndrome.
To test this theory they treated Rett mice with radiation to kill off their existing brain immune cells, before injecting them with healthy bone marrow cells to boost their immune systems.
Male Rett mice, with no working copy of
Mecp2, typically die within two months, but the ones that received bone
marrow from healthy mice lived up to a year, according to study author Jonathan Kipnis.
WHAT IS RETT SYNDROME
Rett Syndrome is a debilitating autism disorder which most often strikes previously healthy little girls just after they have learned to walk and say a few words and begins to drag their development backwards.
Girls lose acquired skills, normal movement and speech. They are left unable to communicate or use their hands to hold, carry or manipulate objects. Eventually they are locked into their own bodies.
They can suffer from extreme anxiety, disordered breathing and seizures. Scoliosis – curving of the spine – is common. Most survive into adulthood but need 24hour care.
There are no real treatments and no current cure. However, in 2007 scientists first showed they could reverse some of the symptoms in mice by stimulating the healthy copy of the Mecp2 gene.
The latest research published in Nature in 2012 showed success by treating the brain-dwelling immune cells called microglia.
For more information visit www.reverserett.org.uk
mice breathed easier, walked better and gained more weight compared with
Female mice with just one working copy of Mecp2 develop
Rett symptoms later than male mice, but a bone-marrow transplant
improved gait, breathing and weight gain for them, too.
'If we show the immune system is playing
a very important role in Rett patients and we could replace it in a
safe way, we may develop some feasible therapies in the future,' Dr Kipnis told nature.com.
Clinical trials of bone-marrow transplants may be worth trying and drugs that improve microglia function are both in the pipeline.
'We know it's not a cure but at last we can see a path for clinical treatment,' Mr Souter said.
'Dylan's future is so bleak and we would do anything if it would help her.'
He said his daughter today is generally happy but becomes frustrated because she can't communicate easily or play with her toys.
She has started crawling slowly after undergoing physiotherapy and hydrotherapy and uses her eyes to point at things, but Mr Souter says these small victories don't blind them to the fact Dylan will deteriorate.
'Dylan is a real fighter. Every day she is trying so hard,' he said.
'Her older brother, Drew, is four and he asks us every day when Dylan is going to walk and talk. He is so caring and understands something is 'squeezing her brain.'
'But now he wants to know why she is so ill and we say it's just very bad luck. There's nothing else we can say.'
The U.S study has been published in Nature1. It was funded by Rett Syndrome Research Trust UK. The charity receives no government or lottery funding and relies on private donations to continue its research.
For more information on Dylan's condition visit www.curefordylan.com