INCURRABLE disease Cystic fibrosis affects thousands of lives in the UK, making it difficult for those affected to breathe or go about their daily lives.
One in 2,500 babies will be diagnosed with the genetic mutation, and unfortunately there is no cure for cystic fibrosis.
What is cystic fibrosis?
Cystic fibrosis is a condition that affects the lungs and digestive system.
The lungs in particular become clogged with thick, sticky mucus.
It can lead to breathing problems and digestive problems.
In most cases, the disease is diagnosed in childhood.
Over the years, a person’s lungs become so damaged that they no longer function properly.
In 2016, cystic fibrosis claimed the life of activist Kirstie Tancock, who inspired many to become organ donors.
Most recently in 2022, ex-CBBC star Chelsie Whibley lost her life to cystic fibrosis.
What causes cystic fibrosis?
It is estimated that around 1 in 2,500 babies in the UK is born with the condition, also known as CF, cystic fibrosis or cystic fibrosis each year.
It is currently estimated that around 10,500 people in the UK suffer from this condition, with around 100,000 people affected around the world.
Accordingly Cystic Fibrosis UKa person can be born with the condition if they have inherited two faulty copies of the gene, one from each parent.
One in 25 people carries the faulty gene, often without knowing it.
The faulty gene means some cells in the body can’t transport salt and water across the cell wall.
This, along with recurring infections, causes the buildup of thick, sticky mucus in the body’s tubes and ducts.
What are the symptoms of cystic fibrosis?
While individuals may have different symptoms, some of the key indicators as listed by the NHS may be:
- recurring chest infections
- difficulty gaining weight
- frequent, wet-sounding cough
- occasional wheezing and shortness of breath
Those diagnosed with the disease are also at risk for other conditions, including diabetes, osteoporosis and liver problems.
What is the life expectancy of a person with cystic fibrosis?
The average life expectancy for someone with cystic fibrosis can vary, with the currently predicted age being only 48 years.
A heel prick test is used to check newborns to see if they have the usual mutations in the gene.
Although life expectancy is still low, it has increased since the 1990s.
Infants with CF born between 1995 and 1999 were given an estimated life expectancy of 32 years.
Those born between 2015 and 2019 have a life expectancy of 46 years, while babies born after 2019 are expected to live up to 48 years.
What is the treatment for cystic fibrosis?
Unfortunately there is no cure for CF.
Since 2019, the drug Orkambi has been used by the NHS to treat cystic fibrosis in adults and children, and is said to dramatically improve the health of half of those affected.
The drug is manufactured by Apex Pharmaand thanks to an agreement with the NHS, CF patients in England aged 2 and over who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can have Orkambi prescribed by their doctor.
CF patients 12 years and older who have either two copies of the F508del mutation, or one copy of the F508del mutation and one copy of any of the other 14 approved mutations, could be prescribed Symkevi (tezacaftor/ivacaftor) in combination with ivacaftor.
People with this condition also use inhaled and injected medications to manage their symptoms and often take enzyme pills.
Lung transplants are also common in people with cystic fibrosis, but other organs affected include the kidneys or pancreas.
Many people with the condition end up taking a mix of treatments to manage and hopefully improve their condition.
https://www.thesun.ie/health/1141562/cystic-fibrosis-symptoms-genetic-disease-life-expectancy/ What is cystic fibrosis and what are the symptoms? – The Irish sun