Karen’s Story

Karen Clark, 46, from Horsham, West Sussex, has spinocerebellar ataxia type III (SCA 3), a hereditary genetic condition which affects balance, walking, grip, speech, swallowing and ultimately breathing. It is a life-limiting condition and Karen, who was diagnosed at the age of 30, is in the later stages of the disease.

Karen lives in Horsham, West Sussex, with husband David, 47, and children Annabelle, 19 and Theo, 15. She was diagnosed in 2007 with SCA 3, a condition which her own mother died from at the age of 59. Karen’s older brother, who lives in Canada, also has the genetic condition. The couple’s children haven’t had a test for the condition yet.

SCA 3 is more commonly known as Machado-Joseph Disease (MJD-III). It is a rare, inherited ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of areas of the brain which contain most of the brainstem and cerebellum.

Most people experience symptoms between the ages of 40 and 70 and the disease progresses slowly. Symptoms include unsteady gait, loss of muscle mass and difficulty coordinating movements of the arms and legs.

For Karen, as her fine motor skills have deteriorated, along with her speech, she has found it difficult communicating over a small mobile phone with their family who live all over the world.

That’s where we at The Sandcastle Trust were able to help. At The Sandcastle Trust we provide support and memory making trips and experiences for families living with a rare genetic condition. Our aim is to help families build lasting positive family memories, strengthen their family relationships, and improve emotional wellbeing and resilience.

Through our Sandcastle Connections programme of support we gifted Karen an iPad, so she is able to communicate with her brother, who lives in a nursing home for young adults in Canada, and other relatives in Australia and New Zealand.

David Clark, an IT consultant, currently caring full time for his wife, says: “The first sign Karen had was when she was 30 years old and started tripping over and dropping stuff. We put it down to the post-natal period, but it was spinocerebellar ataxia. Karen’s condition is similar to motor neurone disease in some ways and like Parkinson’s she has muscle spasms, shakes and problems with her eyesight. It is very progressive, there is no cure and no treatment. The cerebellum is slowly dying.

“Now Karen fully uses a wheelchair, and her dexterity has got much worse. Sometimes I need to feed Karen, her speech is going, and she gets very tired. She needs personal care. It is very hard, and it is an absolute nightmare to get a carer who lasts. Eventually with this condition it stops your lungs from breathing.

“Karen was finding text messages, social media and face time very difficult to do as the buttons on a mobile are very small and that’s difficult with her reduced dexterity.  Her eyes can’t focus on a small screen either. Karen’s occupational therapist recommended an iPad.”

The iPad has opened up communication for Karen and her whole family, enabling her to stay connected with family members and improving her mental wellbeing and emotional health, and reducing isolation. Karen plays interactive games online with her family, such as scrabble and is able to send emails and messages more independently, without being solely dependent on her family to do them for her.

“The iPad has helped a lot because it allows Karen to communicate,” David explains. “On an iPad the buttons are bigger so it’s not as fiddly. She can focus on the screen, which means she gets to read messages from friends and family who email her, and she can FaceTime them. It really makes a big difference.”