Rare status Davon women admits genetic testing service

A woman born with a highly rare genetic skin condition has two healthy children using state -of -the -art genetic testing service.

Axminster, Devon’s Georgina Buroz has ichthyosis with conflict, a position mentioned in less than 50 people worldwide.

It is characterized by severely dry, red, crushed and inflamed skin that is susceptible to infection and skin cancer.

Ms. Baroz said: “We did not think a child was possible without passing my condition – one day does not go where I do not pinch myself in my life that these two bundles of happiness have been brought to our lives.”

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

PGT is a type of IVF treatment that involves testing the fetus to the condition, allowing couples affected by a serious heritage condition for an unaffected child.

Exeter-based PGT service is the only NHS PGT service in the southwest and is partnership with the UK’s largest PGT provider London with Gyce and St. Thomas Hospital.

Dr. Emma Kivuva, Consultant Clinical Geneticist and Genetics led to 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, which we use testing for the specific genetic condition of the family.

“We will then move only an unaffected fetus to the womb.”

In the event of Ms. Baroz, any child had a 50% risk of passing, and some children are so deeply affected that they do not survive.

“I have to undergo a lot of treatment every day, which takes three to five hours and includes bathing amolients, creaming and exfoliating,” she said.

“I do not regulate my body temperature.

“I would not be able to know that I was passed on the condition.”

Annie Exeter has the 50th child born for this service.

He said that he hoped that his story will tell that the doors will open for other people in similar situations and people will feel able to go.

Advisor for service in the trust, clinical geneticist and genetics lead Dr. Emma Kivuva said: “We are very proud to mark the milestone of the 50th child born for PGT service.

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

“Providing a service in the southwest makes treatment more accessible for people living in this region.”

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

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