I couldnt cope if I passed condition to my kids

A woman born with an extremely rare genetic skin condition has had two healthy children using a cutting-edge genetic testing service.

Georgina Burrough, of Axminster, Devon, has Ichthyosis with confetti, a condition reported in less than 50 people worldwide.

It is characterised by severely dry, red, scaly, and inflamed skin that is highly susceptible to infection and skin cancer.

Ms Burrough said: "We didnt think having a child was possible without passing on my condition - not a day goes by where I dont have to pinch myself that these two bundles of joy have been brought into our lives."

Elsie, five, and Annie, seven months, were born using pre-implantation genetic testing (PGT).

PGT is a type of IVF treatment that involves testing embryos for the condition, allowing couples affected by serious inherited conditions to have an unaffected baby.

The Exeter-based PGT service is the only NHS PGT service in the South West and is run in partnership with Guys and St Thomas Hospital in London, the UKs largest PGT provider.

Dr Emma Kivuva, consultant clinical geneticist and genetics lead for the service at the Royal Devon University Healthcare NHS Foundation Trust, said: "A small number of cells are removed from the edge of each of the developing embryos and we test these cells using a test we have designed for the familys specific genetic condition.

"We would then only transfer an unaffected embryo into the womb."

Ms Burroughs condition had a 50% risk of being passed down to any children, and some babies are so profoundly affected that they do not survive.

"I have to undergo a lot of treatment every day, which takes three to five hours and involves bath emollients, creaming and exfoliating," she said.

"I dont regulate my body temperature.

"I wouldnt be able to cope with knowing I had passed on the condition."

Annie is the 50th baby born to this service in Exeter.

She said she hoped telling her story would open the doors for other people in similar situations and people would feel able to give it a go.

Dr Emma Kivuva, consultant clinical geneticist and genetics lead for the service at the trust, said: "We are extremely proud to have marked the milestone of the 50th baby born thanks to the PGT service.

"By offering this service, we can help families who might otherwise face difficult decisions about having children due to their genetic risk.

"Providing a service in the South West makes treatment more accessible to people living in this region."

Dr Sonal Paradkar, PGT co-ordinator for the clinic said, said service could cater for several thousand rare genetic conditions.

These include Huntingtons disease, cystic fibrosis and some rare inherited cancer conditions.

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