'We need information to help our child'

By Jane Elliott
BBC News health reporter

Ellie has several health problems

Five-year-old Ellie Darby has a rare progressive muscular disorder, a hole-in-the heart and bone density problems.

She was just 10 days old when doctors realised she had something wrong with her heart.

Ellie's physical development was slow, but she excelled in other areas, such as speech.

Her parents were worried, however, and, when she was aged 20 months, they were told their daughter had such severe problems she might not survive into adulthood.

Like all parents with sick children, Ellie's want her to get the best possible treatment.

They want to know of the latest research and to share their experiences with other parents.

Data

Ellie, from Essex, has spinal muscular atrophy type 2 (SMA II) but her condition is just one of about 200 different genetic neuromuscular diseases (NMDs).

Because the conditions are rare, scientists often find it difficult to recruit enough patients for their trials and there is little centrally held information on who has what and where they live.

She is a positive girl and takes everything life gives her Kim Darby

Now scientists at Newcastle want to bring all the data together, and have just had their proposal for a European network of excellence for neuromuscular care approved.

Although there are similar networks for other rare conditions this would be the first for NMDs and they hope to have it in operation by the end of the year.

They hope that by doing this they will not only have ready access to patients for research, but will also be able to inform them when they have relevant treatments.

Register

Professor Volker Straub, professor for NMDs at Newcastle University, who will coordinate the network together with his colleague Kate Bushby, said: "If you are dealing with rare conditions you are talking about less than five cases in 10,0000 people affected.

"If we wanted to look at clinical trials they would need to be multi-national, otherwise we would not have the numbers we needed.

"This is something that should have been established 10 or 20 years ago, but we were not ready and we did not have the cutting-edge therapies.

Ellie loves ballet

"This is something important for patients and for society.

"There are large numbers of carriers for these rare diseases and we are just starting to look at new therapies."

Kim Darby, Ellie's mum, explained that when her daughter was first diagnosed she had known little or nothing about the genetic condition that affected their family. For the first three years she was relatively well.

"Then on her third birthday she fractured her femur and had to go to hospital and we found that she had bone density problems. She also had a chest infection."

Battler

After this she had a number of other chest infections, which have left her weakened, but her mother says Ellie is a battler.

"She is a positive girl and takes everything life gives her. She has an electric chair that she whizzes around on and she wants to do ballet.

"It is really hard to say what her prognosis is. Children like Ellie can survive into adulthood if their respiratory health is good.

Ellie needs a ventilator to help her breathe a night

"Initially she had a good chance, but since she has had the bone density problems and the chest infections we don't know.

"We hope she will live into her teenage years and early adulthood, but we must just wait and see."

She explained that a central register could prove vital for children like Ellie.

"I think the register is really important in terms of people being connected for research.

"It will also enable scientists to know just how many people there are with the conditions and how they are affecting their lives.

"Something that would be particularly useful for us - because Ellie has two other conditions, the hole-in-the-heart and the bone density problems - would be to know whether there are others like this, and whether anyone is looking at these conditions as well."

Anita Macaulay, chief executive of the Jennifer Trust for Spinal Muscular Atrophy (SMA), said: "With the prospect of clinical trials looming across Europe, this network will enable information on trials and identify possible patients for inclusion in drugs trials much quicker."

She added: "It will inspire the families who live with SMA knowing that doctors are working all over Europe together to find safer and better treatments. "