Medical research charity marks Rare Diseases Day (Monday February 28) | Action Medical Research

Medical research charity marks Rare Diseases Day (Monday February 28)

28 February 2011

Action Medical Research, the leading UK-wide medical research charity dedicated to helping babies and children, is marking Rare Diseases Day today (February 28) by celebrating pioneering research projects being carried out across the country.

Families across the UK are coping with the reality of a child with a rare and devastating disease for which there is no cure, which is why the West Sussex-based charity is currently funding a number of research projects into rare diseases, including:
·Beckwith-Wiedemann syndrome: can genetics help predict how a child’s illness will progress?
·Brittle bone disease in children: potential of stem cell therapy
·Metabolic diseases: hope of new treatments
·Rett syndrome: hopes of gene therapy
·Harlequin ichthyosis: tackling a severe skin disease
·Blindness in babies and children - Research Training Fellowship
·Juvenile dermatomyositis:  hoping to improve the lives of children with a disabling muscle disease
·Brain cancer in under-threes – Research Training Fellowship
·Primary ciliary dyskinesia – a chronic condition causing recurrent ear and chest infections

Action Medical Research, based in Horsham, aims to bring hope to those families by supporting research to test new treatments for rare metabolic diseases such as Sandhoff disease, finding ways to repair faulty genes that cause distressing and disabling conditions like Rett syndrome, and tackling rare forms of blindness and brain diseases.

Key successes achieved already include identifying genes responsible for rare and devastating conditions such as:
·Von Hippel-Lindau disease – which causes tumours to grow on many parts of the body,
·Van der Woude syndrome - a form of cleft lip and palate,
·Hereditary skin condition incontinentia pigment – which causes severe blistering of the skin.

Although the research we have funded already has helped save and change so many children’s lives, there is still so much more to learn 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. 

Malachi’s story
While most mums worry about their child picking up bugs at nursery, for Debbie it is a very real fear. If two-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. [t3]  Action Medical Research is funding a team from London to look into the genetics behind the condition.
Jack’s Story
When Jack swoops into the room with his red wellies on wanting to be a fireman, mum Lisa smiles with pride. Jack has come through brain surgery, chemotherapy and radiotherapy; he is her little hero already. He is just five years old.

Lisa first thought her 14-month-old son just had a tummy bug when he started being sick. But she watched Jack get worse and worse in hospital and within 24 hours he was diagnosed with cancer. “The doctor held my hand and told me Jack had a brain tumour, it was such a shock, I was numb, and felt sick to my stomach, Mark and I just grabbed hold of each other, nothing can prepare you for the news that we had just heard.”

Jack was suffering from a rare form of medulloblastoma – a brain tumour, which children under three are particularly vulnerable to.

Jack underwent brain surgery to remove the tumour. It then took some six weeks for him to recover, including spending time in intensive care, followed by contracting post-operative meningitis, and this all took its toll. He then needed physiotherapy several times a day as Jack was unable to move at all.

Following surgery, Jack required a gruelling year-long treatment schedule including chemotherapy and radiotherapy. He lost all of his hair and became very weak after losing a lot of weight. His treatment finally ended a year after his diagnosis. He is scanned every year to check the cancer has not returned and this is his third year in a row that he has been given the all clear.

Lisa said: “We met so many lovely families who haven’t been as lucky as us; this is when you think life is so precious. You just don’t think of young babies having cancer, it’s only when you’re put in our position and you have to live on a cancer ward that you see the true extent, you realise how many people are going through this as well.

“That’s why it’s really important that more is known about this rare form of cancer and we are pleased to support Action Medical Research and the work they are funding which could help other families like us.”


For further information please contact:

Claudine Powell, Communications Manager
T 01403 327478

Action Medical Research is the leading UK-wide medical research charity dedicated to helping babies and children. We know that medical research can save and change children’s lives. For nearly 60 years we have been instrumental in significant medical breakthroughs, including the development of the UK polio vaccine and ultrasound scanning in pregnancy.

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.


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