Andy Stephenson never used to smile at his children.
Some facial expressions I couldn’t make, said the 44-year-old father of four. He was rather a grunt. My eyes also drooped a lot. He looked like someone who was on drugs or drunk.
Stephenson, 44, is one of 10,000 people in the UK with a rare autoimmune disease called myasthenia gravis, or MG.
The condition causes extreme muscle weakness. At its most severe it affects Stephenson’s ability to breathe – he has been rushed to hospital in respiratory arrest 31 times in the past two decades – but the disease also affects his ability to control his facial muscles. My youngest son George is only eight, but he used it to ask me all the time: dad, why can’t you smile?
He never asks for it again. For the past year Stephenson, of Balby in Doncaster, has been taking an innovative drug called efgartigimod which is reversing his symptoms.
The former soldier, who served in Bosnia and Kosovo in the British Army’s light infantry regiment before starting to develop symptoms in 2000, has seen his life transformed. I haven’t felt better in the 20 years I’ve had myasthenia, she said. I still have some bad days, but it’s much better than it was. I can smile properly unless I’m really tired. And it’s been three years since I’ve had to be taken to the hospital and intubated. This is huge for me.
Stephenson, who is also father to Ellie, 13, Millie, 16, and Jordan, 22, said he has significantly improved his parenting skills. I used to struggle to even read a book to my children. Now I can do so much more. I can play in the park. I can walk without struggling to breathe.
Efgartigimod was developed by Dutch drugmaker Argenx, based on work by Sally Ward, professor of molecular immunology at the University of Southampton.
MG disease occurs when the immune system malfunctions. Instead of preventing infections, the antibodies attack the nerves and disrupt their ability to send messages to the body’s muscles. About 5% of patients have another family member with the condition, but it is not thought to be inherited.
These rogue antibodies are able to regenerate repeatedly, bypassing the body’s natural elimination process by attaching to a receptor called FcRn. That protects them, Ward said. It prevents them from entering the cell dump.
He established a way to stop this regeneration. By using a drug that latches onto FcRn receptors, harmful antibodies have nowhere to attach. They are then left exposed to the cell elimination system and the nerves are spared from antibody attack.
Ward, who started with the problem while working in America in the 1990s, said: It’s been a long time. It’s very exciting and rewarding to see something we’ve developed in the lab make an impact for patients.
Argenx hopes to expand the concept to address other diseases, including myositis, thrombocytopenia and multifocal motor neuropathy. Anant Murthy, managing director of Europe, Middle East and Africa at Argenx, said: We believed we were on the verge of being able to address a number of autoimmune diseases.
First, however, Argenx must approve efgartigimod for routine use on the NHS, which the company believes will initially benefit around 1,500 of Britain’s 10,000 MG patients.
Stephenson was able to get the drug because British drug regulators designated it as a promising breakthrough medicine, allowing patients to receive it through the government’s Early Access to Medicines scheme.
It is now being reviewed for routine use by the National Institute of Health and Care Excellence (Nice). The Nice committee met last Thursday and will issue a decision in July. Price could be a sticking point.
The drug is given once a week for four weeks in a row, followed by breaks, either through a drip in the hospital or injected at home. It costs approximately 200,000 for an average patient per year, depending on the patient’s weight and the course their doctors decide on.
The NHS is likely to receive a significant discount on this price, which will be kept confidential. But it is not certain whether officials will judge the drug to pass their cost-effectiveness rules, which say each extra year of quality of life gained should not cost the NHS more than 30,000.
However, Murthy said: Unfortunately, many of these patients end up in hospital and intensive care units. Many of them cannot work. All this represents a rather large burden on the healthcare system. Therefore, it is difficult to look at the theoretical future cost of treatment in isolation.
Stephenson is happy to be able to move on with his life and smile at his children.
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