MONDAY FEBRUARY 29th is Rare Disease Day and for one mother of a child with Tuberous Sclerosis Complex (TSC) this will be the first time in his life she can mark the occasion knowing her son is getting the drug he needs to keep him alive.

William Davis, 16, one of the stars of Channel 4’s ‘Born To Be Different’ series which follows the lives of 6 children growing up in England with a range of disabilities, has TSC – a rare genetic condition.

Episode 1 of Born To Be Different (Channel 4, Tuesday, March 1, 9pm) features William and the fight his parents Paula and Nick, and little sister Jessie, have had with NHS England to get William funding for the medicine Everolimus – the drug which has saved his life.

Licensed by the European Regulator in 2012, and prescribed to patients of all ages with TSC in most countries across the globe, Everolimus is not currently available on the NHS to patients who live in England, unless they are ‘in critical or urgent need’ ie: their health is deteriorating rapidly and they are at risk of death.

Now Paula, 45, of Bury St Edmunds, wants to speak out against NHS bureaucracy which put William through months of unnecessary suffering. “It is disgraceful and shameful what NHS England have put us through,” said Paula. “There are other families who are still being put through this as we speak, fighting for their children’s lives, to access a licensed medication which has been proven to be effective and which is available so widely elsewhere in the world.

“Of course we are very relieved that William now has Everolimus, but the system should be fair for everybody, should be transparent and act faster for patients in need. At the moment it is not.”

When William’s kidney tumours (a consequence of  TSC) placed him at risk of a catastrophic and life-threatening kidney bleed, clinicians at Great Ormond Street Hospital (GOSH) made an Individual Funding Request for William to be prescribed Everolimus in April 2015). Two months later the Davis family learned that this request had been turned down by NHS England as William’s case had been judged to be ‘not exceptional’.

Then aged 15 and with the tumour growing rapidly, William’s doctors made a new application this time under NHS England’s newly published Critical Need Protocol.

The application was granted on August 11, 2015 – five days after William’s 16th birthday.

“The benefits have been great,” said Paula. “William still has TSC – nothing will change that – but the threat of a renal bleed is receding, he is calmer and happier and the tumours on his face are also much less pronounced. He is due an MRI scan to check his renal tumour but life is looking more settled for him now.

“I am speaking out now today (Feb 29) as it is Rare Disease Day and I want people to know how badly the system is letting down people with TSC in England.

“I would urge everyone to write to their MP, without delay and ask them to back the Tuberous Sclerosis Association’s #Fight4Treatment campaign. We need Everolimus to be available on prescription to everyone with TSC in England who needs it, when they need it” said Paula, who herself suffers from Multiple Sclerosis.

“This situation cannot be allowed to continue.”

Jayne Spink, Chief Executive of the Tuberous Sclerosis Association (TSA), said “It is four years since Everolimus received European Marketing Approval and three years since we first approached NHS England.  People with TSC in England and their doctors are being badly let down. 

“Patients across the globe have access to this innovative treatment including in the USA, Australia, New Zealand, Korea, Taiwan, Japan, Thailand, China, Russia, and Middle East countries, Slovenia, Czech Republic, Slovakia, Poland and Wales. We cannot understand why patients in England have been left behind.

“It is utterly unforgivable that the dedicated doctors who care for TSC patients have been placed in the terrible position of not being able to prescribe the most effective and appropriate treatment for the patients in their care.”

NHS England is due to make a decision regarding future funding for access to Everolimus for TSC patients later this month (March 2016).