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PWS, Cystic Fibrosis and Research

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If ever you needed to be convinced about what knowledge and research can achieve for a condition, you can look at how the world has changed for those with Cystic Fibrosis (CF).

The Power of Research

Cystic fibrosis is a single gene disorder resulting in the individual producing a much thicker mucous in their lungs and digestive system.  As the mucous is thicker in the lungs it is harder for the oxygen to diffuse into the blood.  A common symptom therefore is shortness of breath and lung infections are common in those with CF and over time this may cause the lungs to stop working properly.  The thicker mucous also clogs up the pancreas which prevents key enzymes being released which are required for the digestion of our food with individuals often experiencing poor weight gain and growth as a result as key nutrients aren’t able to be absorbed.  Cystic fibrosis has, up until recently, been considered a life limiting condition, affecting around 1 in every 2500 births, with the average person living to around 44 years of age.

A Brighter Future

However, this trajectory for the majority of people with CF has just been turned on its head.  A new cystic fibrosis therapy, Trikafta, has shown clear signs of targeting the genetic root of the disease, instead of just alleviating symptoms.  It is thought this drug could benefit 90% of CF sufferers, those with the most common type of mutation, dramatically improving their lung function and therefore their quality of life. 

Doctors are now cautiously optimistic that the disease will soon be treated not as a life limiting condition but as a chronic condition, much like diabetes.  People who may in the past might have been undecided about the point of going to university as knew they’d die young are being told they should plan for their retirement!

Research is Key

The drug was the culmination of decades of scientific research, starting in academic research laboratories and ultimately pushed forward by patient advocate groups.  With the power of research anything is possible.  Knowledge is power and knowledge is what brings change.  Therefore we MUST keep moving forward with research in PWS and keep raining money to fund it.

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