A London family’s experience: primary ciliary dyskinesia
, 2 minute read
A couple from London joined the Generation Study shortly before their baby was born in the summer of 2025. Their midwife gave them a leaflet explaining how by taking part, they could test their newborn for 200+ rare conditions. For the dad, who already manages his own hereditary condition, the decision “felt like a no-brainer.”
Their story
“I’ve always sort of been of the opinion that it’s better to know and be upfront and deal with things,” dad says.
Shortly after their baby was born, they received a call from a specialist letting them know that their daughter had genetic changes associated with a condition called primary ciliary dyskinesia (PCD). This came as a surprise.
"It was probably the worst day of my life. But from there, the speed of what took place was really good. I got a call in the afternoon, and then we had already set up an appointment for the next morning, giving us clear information and support from the start.”
Mum
PCD is a condition that affects the airways and lungs. It prevents the removal of mucus from the respiratory tract. It can lead to frequent lung infections, hearing problems, and breathing issues.
Early diagnosis meant their daughter could begin treatment right away, with a specialist team at a hospital in London.
“She had an early lung issue, spotted on her first X‑ray,” says mum. “But with the introduction of physiotherapy and thanks to picking it up early, we were able to reverse that before more damage could occur – something we might not have been able to do without being a part of the study.”
Since then, the family has received what they describe as exceptional care from the specialist PCD team.
“From daily support calls to home visits, we feel fully supported. We have a team of people invested in our baby’s health. I don’t really know what more you could ask for.”
Dad
Both parents now hope to see that the long-term benefits from early diagnosis mean that their daughter will grow up with strong lungs and be able to avoid some of the worst impacts of the condition – something that might not have happened if not picked up through genomic testing.
Learn more about how we chose the conditions we test for.