14-month-old Safi given new lease of life thanks to Cambridge doctors
She was diagnosed with a rare genetic condition after taking part in the study
Last updated 26th Feb 2026
A Cambridgeshire mum living with a rare genetic condition hopes her 14-month-old daughter doesn't feel the same as she has.
"You just feel 'oh my God, this is how people see me'; they see me as somebody who looks weird'," said Dorka.
Her daughter Safi Ford took part in the Generation Study, which looked at the effect of whole genome sequencing to find 200 genetic conditions in newborn babies.
Doctors at Cambridge University Hospitals NHS Foundation Trust (CUH) diagnosed Safi with isolated growth hormone deficiency (IGHD), which affects their growth leading to them being much shorter than average.
In comparison to Safi, who first started receiving treatment at seven-months-old, Dorka was 17-years-old when she was treated.
"I would avoid actively going to gigs and things like that because I couldn't see anything and I would just stand between people's armpits," Dorka said.
"There are lots of situations like this I'm just glad she doesn't have to go through."
Born at the Rosie Hospital, Cambridge in December 2024, Safi was one of the first babies participating in the Generation Study that went on to be diagnosed with a rare genetic condition.
Referred to Dr Emile Hendriks - consultant paediatric endocrinologist at CUH - she started treatment for IGHD in July last year.
“For the genetic test, they just collected a blood sample from her umbilical cord after she was born and sent that off," Dorka said.
"When we got the results, it provided evidence that led to her being diagnosed and starting treatment.”
IGHD is caused by genetic changes that affect the production of growth hormones, chemicals produced by our bodies to drive growth, with up to 150 newborn babies in the UK affected each year.
Treatment replaces these missing hormones with an artificial substitute.
Daily injections
Now 13 months old, Safi is catching up with other children her age and has grown 15cm since starting treatment.
Experts say Safi will need daily growth hormone injections until she is around 25-years-old and if treatment continues, doctors expect her adult height to be within a typical range and unaffected by IGHD.
“The Generation Study has great potential to transform the care of young children," Dr Kasia Gajewska-Knapik, a consultant obstetrician at CUH who leads the Generation Study in Cambridge, said.
"It is gratifying to see how it is already helping to detect conditions early so that families can get specialist care sooner.
"I hope this approach will improve the lives of many more children and save families from a lot of stress and anxiety.”
The Generation Study is a national study run by Genomics England aiming to perform whole genome sequencing on 100,000 babies across the country.
It aims to provide early detection for over 200 treatable rare genetic conditions, allowing children to receive specialist care and treatment before they develop symptoms.
So far, samples have been collected from around 32,000 newborn babies during the study with more than 70 NHS hospitals taking part.
Although Safi is the first in her family to have genetic testing, her mother, uncle and grandfather all have IGHD but all were diagnosed later in life.
“I only started the therapy when I was about 17 and by then it didn’t make a huge difference to my height; I’m about 4’10” now;" Dorka added.
"I think it's only now in my late thirties I've finally come to accepting not seeing myself as that different.
"I'm really glad Safi won't have to go through that."