A mum with an incurable disease has backed an appeal for Londoners to register as plasma donors to mark Rare Disease Day.
Karen Long has Stiff Person Syndrome, an autoimmune disease which can cause people to become immobile. In severe cases it can require treatment in intensive care and cause death.
The 52-year-old has been receiving immunoglobulin infusions every four weeks at the Royal Hampshire County Hospital in Winchester and says that the drug has helped improve her symptoms.
Immunoglobin is made from plasma and used to treat immune system disorders.
NHS Blood and Transplant need around 2,400 people from London to register as plasma donors to help treat more than 50 rare diseases.
Karen said: “I started having symptoms around 2011 but it was put down to stress and anxiety.
“I started to struggle to walk and began losing my balance. I was a teaching assistant and I could not walk across the playground.
“It had got to the point where I was worried to go out and it was becoming reclusive.”
In 2016, Karen had a “horrific, massive episode” - but said her neurologist only diagnosed her “by chance”.
“My whole body went into spasm. I couldn’t walk. I woke up one Sunday morning and went to the bathroom and my legs were shaking.
“I thought I had a trapped nerve but it got worse and then I had no control over the lower half of my own body whatsoever.”
Karen told the Standard that the disease affected her life “horribly”, affecting her relationship with her son and others.
But in April 2016, she began to receive infusions of immunoglobulin - which “helped massively”.
“I was more mobile, I wasn’t as stiff, I wasn’t having spasms, just being able to do normal things like go out and meet friends.
“Having immunoglobulin gives me a chance at life, not just an existence. I am very thankful to the people who donate. It gives me a chance to see my son finish university, maybe get married, maybe even have a grandchild.”
The precise cause of Stiff Person Syndrome is not known, but scientists believe it is triggered when the patient’s antibodies, which form part of the immune system, cause the neurons controlling the muscles to misfire.
The condition is extremely rare but affects roughly twice as many females as males.
Last year, just under 100 people in England received immunoglobulin for Stiff Person Syndrome.
Karen continued: “I could have won the lottery with those odds but I got this instead.
“I actually burst into tears when I was diagnosed. I have been told for so long this was in my mind, just to be told there was something wrong was such a relief.
“It was a bit heartbreaking to know it can’t be cured and I would be on maintenance for life. But I was relieved to find out what was wrong.”
Karen’s dosage of the drug has since been upped and her symptoms are beginning to worsen as the disease is progressive.
“I was starting to get housebound again and I’ve had several bad falls but upping the dosage has really helped.
“I still get muscle spasms and stiffness and I walk with a stick. My muscles tighten when I move position and just putting on socks and shoes is a massive effort.
“Immunoglobulin gives me a chance. It’s never going to be a normal life but it gives me a chance.”
NHS Blood and Transplant has plasma donation centres in Birmingham, Reading and Twickenham. People can also help by donating blood at any normal blood donation session anywhere in England, as the plasma is recovered from the blood.
Plasma is a yellow liquid which forms part of the blood.
During plasma donation, a machine gradually separates out up to 700mls of plasma from blood. Donation takes about 35 minutes and the whole visit – including questionnaires and snacks - takes around one hour 15 minutes.
England relied on solely on imported immunoglobulin for more than 20 years as a precaution against vCJD but the Medicines and Healthcare products Regulatory Agency (MHRA) said in 2021 that plasma from UK donors can again be used for immunoglobulin.
Donations taken in England are being frozen and stored and will start reaching patients once a fractionator is appointed and a full supply chain is in place.
Donations will bolster future availability of the medicine in England, giving patients more protection from international shocks and shortages.
Gerry Gogarty, Director of Plasma for Medicines at NHS Blood and Transplant, said: “Plasma donation saves the lives of people who have a weak immune systems or people whose immune systems are affecting their own body, like Karen.
“The plasma is concentrated into a medicine call immunoglobulin which is used to treat dozens of rare diseases.
“If more people donate plasma, it will help us to build up long term supplies of this lifesaving medicine.”
