Spotlight on Rett Syndrome
Rett syndrome is a complex neurological disorder that almost exclusively affects females. Its effects have been described as “....the symptoms of autism, cerebral palsy, Parkinson’s, epilepsy and anxiety disorders… all in one little girl”.
At Pepenbury we support two women with Rett syndrome – Corinne, who lives in Linnets on the main Cornfield Lane site, and Kim who lives in Poppies in Southborough. Both need 24 hour care seven days a week.
Rett syndrome is the result of a spontaneous gene mutation and is one of the most common causes of profound and multiple learning disability (PMLD) in the UK. It affects at least 1 in 12,000 women and girls, according to national charity Rett UK.
Typically, symptoms occur during the first 18 months of a child’s life when, after a period of normal development, the child begins to regress and lose skills they have previously gained.
“The outcome of regression is that the child will be profoundly and multiply disabled and totally dependent on others for the whole of their lives. They may be unable to speak, walk or use their hands; many have epilepsy, reflux and scoliosis,” states Rett UK.
Most girls with Rett survive into adulthood but become increasingly disabled as they get older. Both Corinne and Kim attend regular physiotherapy and hydrotherapy sessions to maintain posture and mobility as far as possible. They also enjoy aromatherapy and music therapy. Both are non verbal but can communicate very effectively with their eyes.
Corinne’s mum Enid explains it can be difficult to find a suitable residential placement for a person with Rett Syndrome: “Fewer residential places are available and are usually only funded for those with the most profound disabilities,”she says. “Pepenbury is a welcoming community in attractive, country surroundings. It interacts extensively with the wider outside community. Corinne is a sociable person who is happier in a "family" unit. Pepenbury is like an extended family and gives her more social interaction in a wide community while in the care of people who get to know her well.”
Corinne is 32 years old and moved to Pepenbury in January 2008. Linnets Care Coordinator Francis explains: “Corinne’s symptoms are relatively mild in that she is still mobile and able to walk short distances. She also has fine motor skills which a lot of other people with the syndrome don’t.”
Sadly Corinne’s condition is expected to slowly deteriorate. She has started to get more episodes of Dystonia (movement disorders that cause involuntary spasms and contractions).
Linnet’s staff focus on keeping Corinne as mobile as possible and she walks every day. Francis also attends Rett UK’s annual conference with Corinne’s parents to keep up to date with the latest research and treatment.
When Kim was a little girl she was multilingual in English and German, but at 31 she can no longer communicate verbally and has lost her mobility. Kim’s mum Sigi, an occupational therapist, describes Poppies as “a home from home.”
Kara Ford, registered manager of Poppies, says Kim’s epilepsy is managed through medication and training is vital: “It is very important for me that staff are trained from the moment they walk in the door,” she says “Kim’s had a hard time with her seizures over the years but they are more controlled now.”
Routine is very important to Kim. “She goes home every other weekend and has really supportive parents”. Regular hospital visits are also a big part of her life but Poppies staff ensure is able to enjoy a holiday every year with her fellow residents.
“We’ll continue to do whatever we can to meet her needs,” says Kara.
For more information about Rett Syndrome go to www.rettuk.org