West Sussex charity celebrates Rare Diseases Day and more than £100 million into vital medical research | Action Medical Research

West Sussex charity celebrates Rare Diseases Day and more than £100 million into vital medical research

28 February 2012

The Horsham-based children's charity Action Medical Research is marking Rare Diseases Day (29 February) this year by celebrating investing more than £100 million into vital medical research over the past 60 years.

Thousands of families across the UK are coping with the challenge of caring for a child with a rare and devastating disease for which there is no cure. We know that medical research can save and change children’s lives. Yet surprisingly, medical research into conditions that devastate children’s lives is poorly funded.

Action Medical Research brings hope to these forgotten families by supporting research for genetic factors that cause distressing and disabling rare conditions.

The charity has developed an extraordinary track record in supporting some of the most significant medical breakthroughs in recent history – breakthroughs that have helped save thousands of children’s lives and changed many more. Action Medical Research has supported more than 30 research projects into rare diseases across the UK, and funded a further six Research Training Fellowships for scientists studying rare conditions.

Key successes achieved through the years include identifying the genes responsible for rare and devastating conditions such as:

  • Von Hippel-Lindau disease – a condition that causes tumours to grow on many parts of the body
  • Van der Woude syndrome - a form of cleft lip and palate
  • Incontinentia pigment – a hereditary skin condition that causes severe blistering of the skin.

Caroline Johnston, Research Evaluation Manger at Action Medical Research said: "Our vital work aims to develop cutting-edge therapies for rare and devastating diseases for which there is currently no cure inlcuding the genetic disorder Jeune syndrome, rare forms of brain cancer and blindness, as well as brittle bone disease in children."

There is still so much more to learn though about what triggers diseases, how to prevent them and how to develop effective new treatments and find the best ways to care for sick babies and children.

Today, Action Medical Research plays a vital role as the leading UK-wide medical research charity dedicated to helping babies and children. The charity currently awards around £3 million in grants and Research Training Fellowships every year, funding around 70 research projects at any one time. Currently, the charity is funding 16 research projects, including Research Training Fellowships, into rare diseases including:

  • Primary ciliary dyskinesia
  • Rett syndrome
  • Startle disease
  • Hirschsprung’s disease
  • Beckwith-Wiedemann syndrome
  • Brittle bone disease
  • Jeune syndrome
  • Medulloblastoma
  • Harlequin ichthyosis
  • Smith-Lemli-Opitz Syndrome, Mucolipidosis type IV and Niemann-Pick disease type C
  • Infantile spasms and MRST syndrome
  • Neurofibromatosis type II.

Case study: hope for girls like Grace (Rett syndrome)
Grace Watson had often been the first baby from her mum’s antenatal class to reach those all-important early milestones, but between nine and 12 months things began to change. Other babies started crawling, walking or talking but Grace didn’t. Nobody knew it at the time, but she had Rett syndrome, a rare developmental disorder that causes profound and multiple physical and learning disabilities.

Babies with this debilitating condition, predominantly affecting girls, initially seem to develop normally – they may even learn to walk or say their first words. But then a devastating regression occurs and they start to loose previously learned skills and control of movement.

Grace’s mum Gwenda says: “The diagnosis was a huge shock. All the information was so dire; the worst case scenarios so awful. I was told it was very unlikely she’d ever speak or walk unaided and that she would undoubtedly need to go into residential care when she’s older.”

Children with Rett syndrome struggle with communication and mobility, while other serious problems can include seizures, chronic spinal curvature and breathing and feeding difficulties. They are totally dependent on others for their care.

Now ten-years-old, Grace did learn to walk on her own just two years ago, but life is difficult for her and her family.

“There are still times that I grieve for the child I thought I had. I had looked forward to my little girl doing ballet, cooking with me and lots of other things,” says Gwenda.

“We get stared at a lot, especially by people who don’t understand her difficulties because she doesn’t really look disabled. And we don’t know what the future holds. It is daunting but we try to live for today and appreciate the things Grace can do.”

Action Medical Research is supporting pioneering work that could one day lead to a therapy to reverse the symptoms of Rett syndrome.

Case study: Malachi’s story (primary ciliary dyskinesia)
While most mums worry about their child picking up bugs at nursery, for Debbie it is a very real fear. If three-year-old son Malachi picks up a bug he can end up in hospital. Even when he is well he has a daily routine of medication and physiotherapy because he has a rare condition called Primary Ciliary Dyskinesia (PCD).

Children with PCD have abnormal cilia – tiny hair-like projections, which line the airways and ears. Cilia are supposed to beat rapidly, to sweep germs and dust out of the lungs. In PCD patients cilia don’t work properly. Mucus and bacteria build up in the airways, making children susceptible to infection and congestion and can lead to serious lung problems.

Debbie said: “Malachi is on a nebuliser three times a day, he also has oral antibiotics and physiotherapy twice a day as well as inhalers. He is an active wilful little boy who is full of character and it can be very hard getting him to sit still for his nebuliser and physio!”

Scientists are currently working to provide a better and quicker diagnosis for PCD. Action Medical Research is funding a team from London to look into the genetics behind the condition.

- ENDS -


For further information please contact:

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

Follow us on Twitter at @actionmedres

Action Medical Research - the leading UK-wide medical research charity dedicated to helping babies and children - is celebrating 60 years of vital research in 2012. We’ve been funding medical breakthroughs since we began in 1952 and have spent more than £100 million on research that has helped save thousands of children’s lives and changed many more. Today, we continue to find and fund the very best medical research to help stop the suffering of babies and children caused by disease and disability. 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.
But there is still so much more to do. Make 2012 a special year and help fund more life-changing research for some of the UK’s sickest babies and children.

Help us spread the word