EXCLUSIVE: 'Sickle cell made me want to cut my limbs off - now meds have been axed from NHS'
Some 17,000 Brits are battling with sickle cell disease but despite the risk of life-threatening complications, sickle cell receives only a fraction of funding given to other inherited diseases. This year - two life-changing drugs have been taken off the market - leaving patients pleading with drug companies for more help.
A major drug company's decision to withdraw a sickle cell pill following concerns over side effects has left many of England’s 17,000 patients devastated.
Sickle cell drug voxelotor, was approved for use by the NHS in May, only to be removed from distribution by Pfizer last month. It follows the removal of another drug, crizanlizumab in January, after a review by the Medicines and Healthcare products Regulatory Agency (MHRA) showed the potential benefits of the medicine did not outweigh its risks.
Now many of the UK's sickle cell patients - who feel treatment options are extremely limited - have been left without hope. Sickle cell specialist doctor Steven Okoli said: "Options are very limited. The issue is that nothing has been done for years and now we’ve got two drugs that have been removed from the market. Because we’ve got so little, it leaves a huge impact."
Sickle cell disease causes red blood cells to have an abnormal crescent shape, which prevents the free-flow of blood around the body and can cause blockages in blood vessels. Known as a crisis - lasting for days or weeks - this causes excruciating pain and can be life threatening.
It’s a hereditary disease which occurs mostly in people of African or Caribbean heritage, but also affects people from Middle Eastern, Mediterranean, Central and South American and Asian descent, around 100 million people worldwide have sickle cell trait. This is when someone inherits one faulty haemoglobin gene from a parent. And some 300 babies are born with sickle cell disease every year in the UK.
Despite the risk of life-threatening complications, sickle cell receives only a fraction of the research funding given to cystic fibrosis, another inherited disease. Mainly affecting white people, CF is 10 to 50 times less common than sickle cell disease, according to the forum Think Global Health.
Sickle cell patients are reliant on regular exchange blood transfusions (EBT), a procedure in which the patient’s sickled cells are replaced by healthy red blood cells from a donor. Regular EBTs done every four to eight weeks reduce the chance of complications like strokes, which is why blood donations from healthy Black British individuals are crucial for the survival of sickle cell patients.
An NHS Blood and Transplant spokesperson warned there is a "constant challenge" for blood donations: "We need more people of Black heritage to donate so we can supply hospitals with the right blood to treat sickle cell patients. We can currently only supply 50 per cent of the right type of blood - the rest needs to be substituted with O negative, the universal blood type.
"This is clinically safe but people have a better outcome if treated with the right type of blood. There is an urgent need for donors with Ro blood. Only 2% of our donors have Ro type blood. Ro is often used to save people with the rare blood disorder, sickle cell disease. Ro blood is ten times more common in black people than in white people." This lack of research funding, combined with a shortage of blood donors, is creating a desperate situation for patients.
Speaking during Black History Month, Doctor Wale Atoyebi, a haematologist, labelled the blood shortage as a national 'emergency'. "We've been in what we can describe as an amber alert for a few months now. It is an emergency, and we are all under strict guidance on how to optimise the blood that is available," says Dr Atoyebi who is based at Oxford University Hospitals. "If you're black, your blood is really precious to patients with sickle cell disease and it's more likely to be compatible, compared to an individual of a different race."
South London chartered surveyor and sickle cell advocate Patrish Zea, 31, began taking voxelotor in June to help manage her sickle cell disorder. Voxelotor reduces sickling and damage to red blood cells. The drug meant that Patrish was no longer receiving exchange blood transfusions but when it was suddenly withdrawn by Pfizer last month, she was consumed by pain.
Patrish explains: "Within 48 hours of stopping voxelotor I had to call an ambulance, I was having one of the worst crisis I've had in a very long time. My chest, my back, my legs - it's a pain you never want to experience. I wouldn't wish it on anyone. It's almost inhumane. I couldn’t even talk, couldn’t even move. It was worse than multiple bone fractures. People with sickle cell that have given birth say it's worse than childbirth."
Patrish sobbed when she heard the drug had been withdrawn, saying it gave her increased freedom from hospital, as the number of transfusions she received was reduced from one every five weeks to zero. "After I had the phone call, I broke down. I'm not going to lie. I had a little breakdown - I cried because I was like, 'my plans are ruined.' I had plans - I wanted to have my time. I cried on the phone to the nurse because I was like, 'What am I going to do?'" she says.
"I was shocked. This is the second approved medication for sickle cell that has been withdrawn this year. I felt like it was a joke, like it's a joke right? We’re (sickle cell patients) not taken seriously… I just wonder if this would have happened to any other chronic illness, would something like this happen, where two medications are being withdrawn in the same year? When this condition has hardly any treatment options as it is."
While Patrish praises paramedics for their care during her crisis, she says she had to wait for four hours in hospital in excruciating pain before receiving painkillers, despite NICE guidelines stating that sickle cell patients must receive pain relief within 30 minutes of arrival.
She says: "The pain was just back up to a level nine out of ten for me… it was torture. It’s just a lot, it’s draining, it's exhausting, it's not right. Four hours! I believe that delay is what also contributed to making the crisis even worse. Once I got on the ward I’d say I was more emotionally stable, but still very anxious."
She says the sudden withdrawal of two sickle cell drugs has also increased her anxiety, adding: "It takes a toll on your mental health." Voxelotor gave Patrish more independence, but she did suffer side effects, such as a build up of fluid in her lungs which damaged the organ. "I’ve been saying I can’t breathe since July, you know struggling to breathe and having chest tightness," she says, adding that medics advised her to go to A&E if it persisted.
This is the second drug scare Patrish has experienced. After taking hydroxycarbamide in 2018, originally a cancer drug also prescribed to sickle cell patients to reduce the number of painful crises, Patrish almost lost her ability to walk. She experienced reduced blood flow to her lower legs, her foot swelled up "like a balloon," and she had to spend a whole month in hospital.
Patrish went through months of physiotherapy to learn how to walk again and was in and out of hospital for three years as the initial leg issue triggered several sickle cell crises. As lead mentor for the South West London region for the Sickle Cell Society’s young people’s programme, she helps youngsters with the disorder to live a fulfilling life. She is also the founder of Sickle Teller, a charity which raises awareness about sickle cell. She is now focusing on lifestyle changes such as making her diet more alkaline by eating Fonio grains as a rice replacement, avoiding seedless fruits and eating zucchinis and berries to manage her sickle cell.
Mum-of-one Oyesola Oni, 41, from Nottingham, describes herself as a sickle cell "warrior." She says: "There are some days that I cannot be there for my daughter. Maybe I’m in the hospital or I’m too ill to show up to her school." Oyesola, who advocates for sickle cell patients through her social media page Sickle Cell Convos describes the excruciating pain of a crisis, which makes drug therapy crucial to improve the quality of life for sickle cell patients. She says: "It's like someone is stepping all over me, punching me, a car is running over me, it just feels like your bones are being crushed.
"Sometimes it's so severe that I’ve actually cried that I wanted my limbs cut off. It was that bad. The pain was that much. I wish I didn’t have my leg then because the pain was that bad. I really can’t describe it because everything is happening at once. Someone is stepping on you, someone is stabbing you with a knife, everything is intense… You may not be able to breathe well. For instance, when it's your ribs, you’re too scared to breathe, because for every breath you’re taking you have so much pain in your ribs. Sometimes I can just be on my own sitting down and I just have a sharp shooting pain along my spine and through my back."
Devastated by news of the voxelotor withdrawal, she adds: "I just saw the email and I was shocked. I know people that use it and it's their lifeline. I was just thinking 'What will they do next?' These are the people that the most common medication did not work for, which is why they were put on voxelotor and now it's been withdrawn." Despite trying to give them a positive message, Oyseola fears for the future for young patients. "When you have a medication that goes through fast-tracked approval, and all of a sudden they’re withdrawing it, hopes are dashed," she says.
Dr Steven Okoli, 47, a sickle cell consultant based at Imperial College, NHS Trust, agrees. Speaking about the drug’s withdrawal, he tells The Mirror : "It came as a shock. Pretty much the night before we got some information that the drug was being withdrawn and then it happened the following day. Some patients are upset by the situation. They had a drug that worked for them and that drug has been taken away. It’s highly unusual for a drug to be withdrawn after it's been commissioned by NICE.
"For two to be withdrawn in a year is unheard of, and this in a group of patients who already have limited treatment options. So it's pretty devastating for the patients involved. The issue with voxelotor was that in a small group of patients the company saw an increased incidence in painful vaso-occlusive crises - these painful crises which bring a lot of our patients into hospital - and also showed an increased number of patients who unfortunately died on the drug. It's heart-wrenching… It's difficult for those patients who are on the drugs, it's difficult for their families, and it's difficult for us as clinicians."
Another setback is that very few patients agree to take part in clinical trials. “A lot of patients are now very apprehensive about getting involved in clinical trials especially with the context of what happened with voxelotor," Dr Okoli adds. Asked to explain why it withdrew voxelotor a spokesperson for Pfizer said: "The safety and well-being of patients is of the utmost importance to Pfizer, and whilst we are deeply saddened to have to make this decision, we believe this action is in the best interest of patient safety.
"Pfizer’s decision is based on the totality of clinical data and real-world evidence that now indicate the overall benefit of voxelotor no longer outweighs the risk in the approved sickle cell patient population. Pfizer has investigational sickle cell treatments in its pipeline. Pfizer is committed to the SCD community, and we remain steadfast in our efforts in sickle cell research, with the goal of advancing care and addressing this significant unmet medical need."