Family Fund support sisters with rare Cohen’s syndrome
Ten-year-old Laura and nine-year-old Ruby live in the West Midlands with their mum, Iona. Both girls have been diagnosed with Cohen’s syndrome, a rare inherited disorder, of which there are only 500 known cases worldwide.
About Laura’s and Ruby’s condition
Iona explains, “Cohen’s syndrome causes quite severe learning disabilities, moderate physical disabilities including hypermobility and hypotonia, as well as retinal dystrophy which is an eye condition that leads to decreased vision over time.
“Both girls struggle with coordination and have hypermobility. Day-to-day things like pressing buttons or turning taps can be troublesome and cause frustration. Laura is unable to raise her arms above chest height. Ruby has issues with her hips and ankles. They have about the same mobility as a toddler.
“Ruby is mostly non-verbal, and Laura mainly speaks in single words or short sentences. So, we use PECS (Picture Exchange Communication System) cards to help understanding.”
Iona, who is currently studying for a PhD at medical school, says “It’s difficult to balance studying with my caring responsibilities. Life is busy and the girls require constant supervision. Neither of them have awareness of danger and I need to support them with all aspects of their life. From changing clothes, brushing teeth, eating, toileting and so on. But being a parent to children with disabilities has taught me not to worry about things that aren’t important.”
How Family Fund helped
Family Fund has supported the family on a few occasions over the years by granting a tablet, playhouse, and family breaks away.
Iona recalls, “The iPads have greatly improved the children’s fine motor skills, as they struggle to hold pens. They also enjoy playing educational games on the iPad. And we use them to help communicate through pictures and symbols.
“More recently, we’ve been awarded family break grants. It was lovely to have some family time together. We don’t get many opportunities to spend time together in a relaxed and safe environment.”
“Family Fund is such a good charity. The fact that you can apply for grants that improve our whole family’s quality of life is great!”
