James & Lucy Topham

Lucy and James are the two younger children of Sam and Ashley. The family also has two older sons, Paul aged 20 and Dean 17.

Lucy and James suffer from Pyrobate Dehydrogenate E3 Binding Complex Deficiency, an extremely rare condition (there is only confirmation of around 20 cases worldwide).

Lucy and James can do nothing for themselves and are cared for by their mum and dad around the clock. Their future is uncertain and bleak.

Lucy’s condition was not diagnosed at birth so she didn’t receive the correct treatment. The general consensus seemed to be that her problems were due to the cord being around her throat at 35 weeks of pregnancy, causing brain damage. Sam and Ashley were informed that it would be safe to have another child in the future, and they really wanted companionship for Lucy. However, when James was born displaying similar tendencies to his sister, his mum was alarmed and alerted the medical staff. Tests were carried out which resulted in this rare condition being diagnosed. A biopsy on Lucy proved that she also had this rare condition but is more severely brain damaged than James.

James’ chest muscles are not properly developed – so every day, for the first two years of his life, he had to be bounced in his chair around the clock. Dad was in the Army at the time, Sam had to deal with this and care for the other children alone.

Ashley decided that his wife could not carry on looking after children the alone and gave up his very promising Army career after 23 years’ service. He now works for himself so he can support his wife by working around the numerous hospital visits and providing everyday care for their children.

The children’s Social Worker advised the family about Rainbows. Sam says: “The visits to Rainbows are a Godsend which help us spend quality time with our older children who have sat on the backbench for a while. The whole family benefit from the support of Rainbows. The boys are happy as they think Rainbows is a lovely place for their younger brother and sister to go. It gives Ashley and I time to take family holidays with our older sons, an impossibility before we went to Rainbows. We are very confident with the care Lucy and James receive and know that they get constant attention. There is always a doctor in attendance and the staff are marvellous.”

Maureen Podesta, Former Appeal Communications Manager at Rainbows says “With the advance of improved medication we are finding that the children and young people who use our services are living that bit longer. We are registered to care for children and young people from birth to 25 years of age. However the Government Regulations state that we cannot have the over and under 18 years of age sharing the same sleeping and social areas and we are now having to adapt and extend our present premises. To this end we have launched our “Building for the Future” £4m Appeal to provide 6 additional bedrooms, 2 new bathrooms, a therapy suite etc in order to maintain the same level of service to our families.