Rare Diseases Day: vital charity research investment | Action Medical Research

Rare Diseases Day: vital charity research investment

27 February 2013

Action Medical Research, the UK-wide charity funding vital research to help babies and children, is marking Rare Diseases Day (28 February) this year by announcing continuing investment into vital research in the area.

Research underway in 2013 includes projects on rare conditions: primary ciliary dyskinesia (PCD), Smith-Lemli-Opitz syndrome and Perthes' disease.

Today in the UK, there are thousands of families coping with the challenge of caring for a child with a rare and devastating disease for which there is no cure. Research is the key to saving many of these children from a lifetime of suffering. Yet surprisingly, medical research into conditions that devastate children’s lives is poorly funded.

Action Medical Research is currently funding over 75 projects targeting rare diseases, tackling premature birth, treating sick and vulnerable babies, and helping children affected by disability, disabling conditions and infections.

Dr Emyr Lloyd-Evans, of Cardiff University, has been awarded funding by the charity to investigate two drugs that might benefit children with Smith-Lemli-Opitz syndrome (SLOS). Children with SLOS have autism spectrum disorders and the most severely affected have birth defects, such as cleft palates, learning disabilities and life-threatening heart defects. There is no cure and no proven effective treatment. [see case study below]

Professor Fagan of the University of Hull, has been awarded funding by the charity to look at the rare condition Perthes’ disease; helping identify which children are at risk and why, and investigating possible treatments. Children with Perthes’ disease are normally diagnosed after experiencing hip pain or a limp. Although most eventually make a good recovery, some develop permanent deformities or arthritis in later life.

Funding from the charity is also supporting Dr Hannah Mitchison, of University College London, in her hunt for genetic changes that cause primary ciliary dyskinesia (PCD) in children in an Asian community who are at particular risk. PCD causes recurrent ear and chest infections, often leading to permanent lung damage. Dr Mitchison hopes to enable earlier diagnosis, so these children can get treatment sooner.

To be part of the next breakthrough and help change more children’s lives, get involved with Action Medical Research: http://www.action.org.uk/get_involved

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Case study: Alex and Daniel (Smith-Lemli-Opitz syndrome), Northants
Alex was born two weeks early; the second child to mum Victoria Orritt. She knew something wasn’t right as soon as he was put on her chest. “His spine was curved and I thought his head shape looked strange,” she recalls.

Alex’s early years were very difficult. As a baby he barely slept: he vomited every two to three hours a night and didn’t grow much during his first six months. He also suffered terrible constipation. “It was a very distressing and worrying time,” Victoria says.

When Alex was 17 months’ old Victoria had her third child Daniel, but Alex still wasn’t walking. Daniel had similar problems to his brother and was born with a hole in his heart. At just one day old he had his first heart surgery, followed by further operations at three months’ and two years’ old.

Neither of the boys reached the expected milestones for their age, such as crawling, walking and potty training, but doctors were unable to say why. In 2008, when Alex was three, Victoria was so worried she took both boys to see a genetics consultant.

After the trauma of the last few years, Victoria was at last given some answers. Both boys were diagnosed with the rare metabolic condition Smith-Lemli-Opitz syndrome (SLOS), which results from a failure of the body to make its own cholesterol.

At age five Alex had surgery to help correct his scoliosis and metal rods were inserted either side of his spine, which were replaced in June 2012 with new magnetic rods that can be lengthened every few months to avoid more painful surgery. He also wears ankle splints so can’t put on his own shoes.

Alex is now seven and Daniel six and everyday life for the boys remains challenging. They both have poor appetites and suffer reflux and regularly vomit, but get irritable and distressed if they don’t eat enough. In the past, both Alex and Daniel have had to be fed for short periods of time through a nasogastric tube (a narrow tube passed into the stomach via the nose).

“Alex had to be fed like this before his spinal surgery as he wasn't eating at all and needed to build up strength. His eating has been going downhill recently, so there is a danger he will need tube feeding again,” says Victoria.

Their autistic tendencies mean that routine is very important to them. Their clothes not being laid out in the right way, for example, can trigger great upset.

Daniel enjoys school but is still unable to write, or even have basic control over a pencil. Children affected by SLOS also get very cold, very quickly, so both boys wear thermal vests and thermal trousers. When Daniel gets cold he is likely to scream and cry, which can last from twenty minutes to two hours. “It can be so draining. I just have to leave the room sometimes,” Victoria says.

“Finally getting a diagnosis for Alex and Daniel was such a relief. But there is still a huge lack of awareness and understanding of SLOS,” adds Victoria. “I was excited when I found out about the research into SLOS funded by Action. Improving understanding of rare conditions is so important, and the development of new and effective treatments that could help my boys would be amazing.”

High res pics can be downloaded from these links:
Family shot, from left back: David (Victoria's partner), Victoria Orritt, Annabelle (Alex and Daniel's sister who does not have SLOS), Alex, Daniel

Alex and Daniel

For further press information on Action Medical Research please contact:

Toni Slater, Communications Manager
T: 01403 327478
E: tslater@action.org.uk
W: action.org.uk

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7 is a UK-wide charity saving and changing children’s lives through medical research.

We want to make a difference in:

  • tackling premature birth and treating sick and vulnerable babies
  • helping children affected by disability, disabling conditions and infections
  • targeting rare diseases that together severely affect many forgotten children.

Just one breakthrough, however small, can mean the world.

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