Two sisters with a one-in-a-million medical condition are fighting to raise awareness after being told that the NHS won’t fund the drugs they need to live a normal life.
Sisters Kay Baillie and Harriet North have a daily struggle to complete even the most basic tasks – sometimes even lifting their head off the pillow in the morning is too painful.
The women have both been diagnosed with the incredibly rare illness TRAPS (Tumour-necrosis-factor Receptor Associated Periodic Syndrome), a genetic mutation affecting around one person per million.
They are two of just 60 sufferers in the UK, and have their own identical gene mutation, the odds of which were one in three billion.
However, having been finally told of their condition after years of misdiagnosis, the sisters have now been dealt a massive blow – the drug which could give them the chance of a normal, pain-free life is no longer being prescribed due to cost.
TRAPS is a debilitating illness which causes constant pain, inflammation and reduced mobility.
Without treatment the sisters will eventually develop amyloidosis leading to renal failure and have to spend the rest of their life on dialysis – Harriet has been told this will occur in around 10 years.
Harriet was diagnosed last year while Kay’s condition was confirmed last month, after a lifetime of being misdiagnosed with illnesses such a IBS, gastroenteritis and even tennis elbow.
But Kay and Harriet have been told that if they had been diagnosed and applied for funding before April 2016 they would have been granted treatment for a drug called Anakinra, a daily injection which would ‘turn off’ their faulty gene.
Since then, because the drug has not been officially recognised by NICE [The National Institute for Health and Care Excellence] as a treatment specifically for TRAPS, NHS funding has stopped.
Kay, 31, said: “I have been advised that it’s all down to cost that we are not getting the drug. The drug isn’t recognised by NICE because it’s not specifically for TRAPS, although it does work.”
Harriet, 23, said: “One of our genes works incorrectly so we would have to be on the drug every day. It stops the symptoms by turning off the faulty gene completely, so that it can’t create any more inflammation or cause more damage.
“If we could take the drug we would be completely fine within a year.
“TRAPS is something we can live with normally if we are treated.”
Both sisters are being treated by consultants at The Royal Free Hospital in London, which has the only specialist unit for TRAPS in the country.
Harriet, who lives with her parents in Morecambe, said: “Because there are only 60 people in the UK with TRAPS, most doctors don’t know about it.
“We have been told we have among the most extreme cases they have seen.
“Some people will only get flare ups every few weeks but we have it every day.
“When it’s bad you can’t do daily things like getting dressed and washing your hair.
“We are also both severely anaemic, and our liver and spleen are both enlarged.”
Kay added: “Sometimes I literally cannot move my head more than a few millimetres, and lifting it off the pillow in the morning is too painful.”
Although the faulty gene was identified in Harriet before she was born – it is believed to have come from their father Stephen although he suffers no serious effects – she was only diagnosed with TRAPS in November following years of being fobbed off with conditions such as tennis elbow throughout her teens.
Kay, meanwhile, was misdiagnosed with rheumatoid arthritis when she was 15 months old.
Kay said: “We want to bring more awareness because we have been misdiagnosed for so long and so there could be others in the same boat.”
The condition means the sisters’ bodies make too much of the serum Ameloid A, which they cannot then get rid, leaving it to build up in the body around the vital organs.
This can lead to organ failure, but the sisters have been told they are unsuitable for any organ transplants because their faulty gene would still be active and the serum would continue to affect any new organs, and so dialysis is the only option.
Ironically, this would ultimately cost more per year that the Anakinra drug.
Kay and Harriet have been told that while the drug they need would cost £10,000 each per year, dialysis would annually cost £30,000 each. The condition causes problems with Kay and Harriet’s working lives on top of their personal problems.
Harriet said: “I have trained as a sound engineer but it’s difficult as it’s very manual.
“I now work at the Platform and More Music and they are very understanding, and I am also a receptionist at the Holistic Centre.
“I went to university in Manchester but I have never left home, I would travel there every day and my freiends were great.
“You need a lot of support around you; it’s very frustrating because I would love to be independent but I just couldn’t leave home.”
Kay, who lives in Morecambe with her partner, is a carer and also works at Tesco.
“It has got gradually worse over the last five years and now it’s affecting some part of me every day,” she said.
“Sometimes I am less able than the people I care for! When you can’t work you can’t get any benefits and I just want to be normal and work.
“At the moment I can’t guarantee my attendance at work all the time so I can’t progress my career.
“To be told that you can’t be normal just puts a full stop on everything.”
Harriet has already been refused Anakinra on two occasions, while the NHS currently won’t even apply for it for Kay.
Harriet has now enlisted the support of Morecambe MP David Morris, who brought up her plight in Westminster after providing a supporting letter for one of her failed applications for the drug.
Mr Morris said: “It is simply not good enough for NHS England to deny Harriet the lifesaving drug that she needs. Whilst I understand that NICE have not licenced Anakinra for use with patients who have TRAPS, I understand that this is under review and could change at the end of the year.
“In the meantime, I am working with Harriet and her parents to find a way forward and find a drug that she can use that is clinically recommended.
“I have raised this with the Secretary of State for Health, and with the Health Minister Nicola Blackwood MP who has agreed to meet with me and Harriet to find a way forward.”
The sisters are hoping that continued pressure to raise awareness of the condition will help their fight for treatment.
Kay said: “It’s like now we have finally got our answer to what is wrong they are now shutting it down; it’s so frustrating.
“Ultimately we want to raise awareness and also for the drug to be available to everyone with TRAPS.
“The hope is that NHS England let the doctors prescribe it because they know it works.
“The drug had been used for the previous 10 years, but doctors have now been told not to prescribe it to their patients with TRAPS. At the end of the day if a doctor knows a drug works for a condition they should be able to prescribe it.”
A spokesman the NHS Morecambe Bay Clinical Commissioning Group (CCG) said: “In the NHS we often have to make difficult decisions to ensure our limited budget delivers the maximum benefit for all our patients.
“When reviewing any requests for specialised treatment not routinely offered by the NHS, we consider national best practice and work closely with local clinicians to review the individual clinical needs of the patient.”
Facts about TRAPS
* TRAPS is caused by mutations in a gene known as TNFRSF1A
* It is equally common in men and women
* Children have a 50 per cent chance of inheriting the mutated gene from the affected parent
* Symptoms can include episodes of recurrent fever, abdominal, chest and muscle pain and a typical rash lasting for more than one week
* The severity of TRAPS varies from patient to patient and often depends on the specific gene defect
* TRAPS may result in late kidney failure if not treated