'The last thing you want is to outlive your child'

Six-year-old Idrees plays happily in the garden of his Oxford home, with his older sister Eliza.

He can keep up with her now, but a year ago he was struggling with symptoms caused by a very rare metabolic disease, Niemann-Pick.

"His liver and spleen were enlarged and it affected his lung capacity, so he would get breathless," said dad Qasim. "He was in a pram until last year."

"When doctors said his life expectancy would be very short, we were devastated. Our world came tumbling down."

Shortly after Idrees's diagnosis in April last year, a potential treatment emerged, but it was rejected by the National Institute for Health and Care Excellence (NICE).

"Knowing your grandson has a devastating disease is only made worse by knowing there is a treatment which he can't access," said Nasreen, Idrees' grandmother.

Fortunately, the drug company is offering Idrees treatment under special "compassionate use grounds" but that is not guaranteed to continue.

"It's absolutely changed his life and ours. He's not being teased at school. He could only do 10% of what his sister could at his age. But now he's caught up." said his dad.

Niemann-Pick is a rare disease, affecting only about 40 people in the UK. There is no cure.

But about 3.5 million people in the UK have other rare diseases and for 95% of the 6,000 known rare conditions there is no approved treatment - while about one in three people wait more than five years for a diagnosis.

The life sciences not-for-profit organisations LifeArc and Genetic Alliance UK say that needs to change.

They are calling for the government, NHS, researchers, industry, patient groups and policymakers to work together to transform lives.

In a new report, they make several recommendations to "streamline research and development, create an attractive environment for investment and drive progress for people with rare diseases".

"The challenges we face are clear – but so is the potential for meaningful change," said Dr Sam Barrell, chief executive officer of LifeArc.

"We must act today to demand better, to work together and to transform the system for the millions of people living with rare diseases."

The report comes at a pivotal time, as the government is considering the future of the Rare Disease Framework, which sets out a national vision for how the UK will improve the lives of those living with rare diseases.

A Department of Health and Social Care spokesperson said "We know that those living with rare diseases and their families face immense everyday challenges.

"One of the top priorities will be to improve access to specialist care, treatment, and drugs for patients.

"Our 10-year Health Plan will also help turn cutting-edge research into treatments for people with rare diseases, such as advancing genomic testing to accelerate diagnoses."

Qasim hopes that will help Idrees and others like him. "We need to be the leaders in finding solutions. I want everyone to work together to secure a better future for the children of this country."

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