Within a fortnight, the fog lifted. I felt the best I had in 25 years
As a new drug for a rare blood disease is approved for use on the NHS, Deborah Linton meets one woman whose life has been transformed by the treatment
The summer after her GCSEs, Louise Pottinger went on the trip of a lifetime, to Egypt’s Sinai Peninsula. But as the six-week trek progressed, Louise became increasingly ill and drained of colour. She had a soaring temperature and lost energy at such a rapid rate that, by the time she got home to Carlisle in Cumbria, she struggled to walk.
Within two weeks, following blood tests ordered by her GP, she was under the care of a haematologist and diagnosed with a rare, chronic and life-threatening blood disorder, PNH (paroxysmal nocturnal haemoglobinuria) which affects fewer than 900 people in England.
At 16, she began blood transfusions, every six to eight weeks, which flushed her with two litres of fresh blood to keep her alive.
For years, transfusions were the only treatment available to those like Louise whose red blood cells are destroyed by part of the immune system, causing low haemoglobin, insufficient to carry healthy oxygen levels around the body. PNH patients are usually severely anaemic, suffer fatigue, breathlessness or palpitations, seriously reducing their quality of life. Now a new drug, approved by the health watchdog NICE for use on the NHS, this month, has provided new hope.
Mum-of-four, Louise, now 41 and a healthcare assistant living in Tynemouth in Tyneside, remembers: “I’d go to hospital every few weeks. When I had a transfusion, I’d feel energy return to my body but it didn’t last. As the effects wore off and my next transfusion was due, I’d get tired, breathless, irritable and overwhelmed.
“The colour would drain from my face and nails but there were no other treatment options.”
In 2019, Louise began a trial of pegcetacoplan, a drug that is self-administered twice a week, through a pump and syringe, at home. Within a fortnight, the fog lifted. “My eyes were bright, my colour came back and I had renewed, constant energy. Everything felt sharper. I looked and felt the best I had in 25 years. Mentally, I had new patience and was less irritable.”
Instead of her haemoglobin levels dropping to as little as one-third of a healthy person’s, her red blood cell count remains as high as anyone else’s on her new treatment, eliminating effects of the anaemia associated with PNH.
Louise, who has children
Isaac, 13, Orla, 12, Darcey, nine, and Nuala, five, and has been married to Bill, a social worker, for 14 years, remembers: “Not long after I started the trial, I was on the beach running after the kids.
“I could run without getting breathless for the first time I could remember. It was so liberating.”
Pegcetacoplan was approved for wider use in the UK in February and was fast-tracked, then rubberstamped by NICE this month, hailing an improved lifestyle for patients.
Without treatment, PNH sufferers are at high risk of thrombosis. Almost 30 per cent won’t survive the next decade, according to experts.
With hindsight, Louise remembers experiencing stomach pains that were dismissed by doctors from the age of 11. A keen netball player, she was also tested for asthma after experiencing mild breathlessness, but was given a clean bill of health until she became ill during her summer abroad.
During A-levels, she studied hard but socialised only when well enough. “In the weeks towards a transfusion, I was good for nothing.”
She also lived with the fear that the condition could cut her life short.
“I only looked up PNH online, once when I was young, and never again. It scared me that it could be life-limiting if untreated. I didn’t want to let it define my life.”
Then, in her twenties, towards the end of an English literature degree at Durham University, she became one of the first people in the country to trial a drug called eculizumab, which dramatically improved her life for the first time.
Administered by a nurse, through fortnightly infusions at home, it reduced the need for hospital transfusions, requiring them only if she caught an infection, such as a cold, which could cause her blood cell count to drop.
“It was the first huge improvement to my quality of life and served me well for 20 years but I was never operating at full capacity,” she says. “I learned to live with fatigue.”
Only during her pregnancies, where she was closely monitored, did she return to having transfusions every few weeks.
PNH is an acquired, genetic mutation which cannot be passed on.
Louise recalls: “In my early 20s, I asked my consultant if I could have children. He said, ‘It’s not whether you can, it’s whether you’ll be around to see them grow up.’”
Last year, two years into her switch to pegcetacoplan, Louise went back to work. Previously, her illness would have made it tough to balance her children’s needs with work.
“It’s difficult to know where the PNH ends and exhaustion from parenting four kids begins,” she says.
Helen Knight, programme director in the NICE Centre for Health Technology Evaluation, says: “Paroxysmal nocturnal haemoglobinuria is debilitating and, in some cases, life threatening.
“Depending on its severity, people can experience anaemia and fatigue, and often need blood transfusions.
“We are delighted to recommend this new treatment, which improves haemoglobin levels. It is also considered more convenient – unlike current treatments which have to be given through intravenous infusion by a healthcare professional, it can be self-administered.”
Louise remains grateful for the opportunities that new treatments have given her.
“Developments in medicine have changed my life. Had I been born 20 years earlier, there would have been nothing. I feel very lucky.”
‘‘ Without treatment, almost 30 per cent won’t survive the decade