What is cystic fibrosis, what are the symptoms, what causes the genetic disease and what treatments are available?
But as scientists work to find a cure, what do we know so far about the condition?
What is cystic fibrosis?
Cystic fibrosis is a condition that affects the lungs and digestive system.
This causes them to become clogged with thick, sticky mucus.
It can lead to breathing problems and trouble digesting food.
In most cases, the condition is diagnosed in childhood.
Over the years, a person’s lungs are damaged to the extent that they can stop working properly.
In 2016 cystic fibrosis claimed the life of campaigner Kirstie Tancock, who inspired many to become organ donors.
How common is cystic fibrosis?
It is estimated that around one in every 2,500 babies are born in the UK every year with the condition, which is also known as CF, mucovoidosis, or mucoviscidosis.
Currently, it is estimated that about 10,500 people in the UK have the condition with about 100,000 people around the world affected.
According to Cystic Fibrosis UK, an individual can be born with the condition if they have inherited two faulty copies of the gene, one from each parent.
One person in 25 carries the faulty gene, often without knowing.
The faulty gene means some cells in the body cannot move salt and water across the cell wall.
This, along with recurrent infections, is what causes the build-up of thick, sticky mucus in the body’s tubes and passageways.
What are the symptoms of cystic fibrosis?
While individuals can have different symptoms, some of the main indicators as listed by the NHS can be:
- recurring chest infections
- difficulty putting on weight
- frequent, wet-sounding coughs
- occasional wheezing and shortness of breath
Those diagnosed with the disease are also at risk of other conditions, including diabetes, osteoporosis and liver problems.
How are people diagnosed with cystic fibrosis?
The heel prick blood test is used to check newborn babies if they have the common mutations of the gene.
Is there a cure for cystic fibrosis?
Sadly there is no cure for CF.
The average life expectancy for someone with cystic fibrosis can vary, with the current predicted age just 41 years.
What is Orkambi?
Orkambi is a drug used to treat cystic fibrosis in adults and children over six years old.
While it is only for use in patients with a specific gene mutation, there are believed to be 3,296 people throughout the UK who could benefit from the treatment – if it was available.
The drug is manufactured by Vertex Pharmaceuticals, but The National Institute for Health and Care Excellence (NICE) has said the price of the drug is currently too steep.
A young boy with cystic fibrosis has pleaded with Vertex, to lower the price of the treatment so the NHS can afford it.
In a handwritten letter to the company, Luis Walker from East Sussex wrote: "You have the medicine that can make me feel much better and not have to spend so much time in hospital please sell it to my country.
"If your son had cystic fibrosis I know you understand and lower the price of Orkambi."
His mother, Christina added: "It's a really simple message, please lower the price so the NHS can afford it.
"Our children deserve the chance that everyone else has and they actually have it now with this drug."
For two years, NHS England and Vertex have been in negotiation over the treatment.
Vertex vice president for corporate affairs Rebecca Hunt explained: "We have spent every one of the thousand days since Orkambi was approved trying to get it to patients who need it; and again urge Simon Stevens (NHS England chief executive) to come to the table so patients in England don't have to wait any longer."
Health secretary Matt Hancock is set to meet drug company Vertex Pharmaceuticals in the hope of making new medicines for the condition available on the NHS.
The drug is said to dramatically improve the health of half of sufferers.
People with the condition generally use inhaled and injected drugs to treat their symptoms and often take enzyme pills.
Lung transplants are also common for people with cystic fibrosis but other organs affected also include the kidneys or pancreas.
In recent months, the NHS have come under fire for withholding a potentially life-saving drug called Orkambi, due to the price of the medicine.
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