Ruby's Fund And IDIC 15
As carers of a child with additional needs. My husband and I have been on a journey that we never expected would happen to our family. Ruby was born on 8th July 2007. She was a healthy weight of 8lb 11oz. Initially everything appeared to be fine with no significant problems. Ruby was our second child. The first thing we noticed about Ruby was she never really smiled. At about 6 months of age we noticed that Ruby was not reaching certain milestones. We just put this down to her being a late starter. Ruby then began making "odd movements” where she would drop her head and raise her arms. This repeated movement would go on for up to 60 minutes, and at its worst occurring 30+ times a day. We recorded this movement and took the film to show the GP. From there we were referred to Macclesfield District General Hospital to see the Paediatrician. Luckily Ruby started doing the head dropping, arm raising movements whilst the doctor was assessing her. From there we went straight to Pendlebury Childrens Hospital where Ruby under went 4 months of intensive investigations. We now know that the head dropping, arm raising movements where Infantile Spasms- a form of epilepsy. After genetic testing Ruby was diagnosed with a very rare chromosone condition called Isodicentric_15 or IDIC 15 syndrome. It means she was born with a partial duplication on chromosome 15. This isn't inherited, it just happened. It occurs randomly during the formation of cells and there is NO cure for IDIC 15. They say no two children with the condition are exactly alike. Click here for the science link!
Some of the symptoms Ruby has are: seizures, hypotonia, fine and gross motor delays, cognitive difficulties, sensory and processing disorder, behavioral issues, speech/language delays, and living independently in the future is almost impossible. We believe that there are less than 100 families in the UK affected by this disorder.
Ruby's general development is significantly delayed as a result of her condition.
Ruby has cardiac rhabdomyomas (benign heart tumours). She frequently has seizures. It is unknown how her future development will be affected.
It is from our experiences as parents of a child with additional needs that together with Alix a local health visitor that we started Ruby’s Fund. It is our mission to provide sensory and soft play to children with additional needs but also to provide a social element to the centre. Our own experience has shown how isolating having a child with a disability can be and how emotionally challenging the role of the carer can be.