Devon woman with rare condition praises genetic testing service
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 didn't think having a child was possible without passing on my condition - not a day goes by where I don't 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 Guy's and St Thomas' Hospital in London, the UK's 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 family's specific genetic condition."We would then only transfer an unaffected embryo into the womb."
Ms Burrough's 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 don't regulate my body temperature."I wouldn't 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 Huntington's disease, cystic fibrosis and some rare inherited cancer conditions.
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
The Independent
an hour ago
- The Independent
Girl told lumps in breasts were likely hormonal dies after cancer diagnosis
Isla Sneddon, a 17-year-old, died of breast cancer after an urgent referral was downgraded due to her age, despite initial concerns and painful lumps. In 2022, at age 14, Isla was told her breast lumps were likely hormonal; when she returned in 2024 at age 16, an urgent referral was downgraded in line with national guidelines that treat patients under 30 with suspected cancer as routine. Her family is advocating for a review of urgent cancer referrals, arguing that earlier, more aggressive treatment, similar to that of adults, might have saved her life. After the downgraded referral, a biopsy revealed a likely benign tumor, but Isla's condition deteriorated, leading to a diagnosis of sarcoma, which had spread from her breast to her heart, lungs, and lymph nodes. Isla's family is calling on the Scottish government and NHS Scotland to ensure paediatric referrals have the same maximum wait times as adults, with follow-ups for downgraded or delayed referrals, and clearer guidelines for recognising cancer signs in young adults and children.
Scottish Sun
2 hours ago
- Scottish Sun
My hair was damaged from bleach but now it's so thick and long – it's all thanks to the simple weekly step I never miss
Read on for more hair loss tips HAIR THIS My hair was damaged from bleach but now it's so thick and long – it's all thanks to the simple weekly step I never miss Click to share on X/Twitter (Opens in new window) Click to share on Facebook (Opens in new window) A WOMAN has shared the weekly routine she swears by to keep her locks healthy and thick. Fleur Green, from the UK, took to social media to share the routine and the hair oils she swears by. Sign up for Scottish Sun newsletter Sign up 2 Fleur shared how she got her damaged hair thick and long again Credit: 2 She swore by two oils to keep her hair in good condition Credit: In the clip, she said: "I've gone from essentially a long bleached blonde, snapped off bob to Rapunzel." "I'm gonna show you the products which I've used consistently, which has helped me achieve this," Fleur added. First, the hair whizz gave her hair a brush to get rid of any tangles. Next, she took two hair oils - rosemary and batana oil and blended them together. She put them in a hair oiling tool that allows you to comb it through your scalp with ease. "Batana oil is super rich in antioxidants and fatty acids," she explained. "So if you're somebody like me who used to suffer with super dry, brittle hair, or like you've run your fingers through it and it'd be super prone to snapping off, this cocktail of hair oils is gonna be amazing for you." Fleur used Nature's Spells hair oils, which are already diluted to make them safe to apply to the scalp. She evenly applied the oil to her scalp before using her fingers to massage it in and promote blood circulation. Any leftover oil was then applied to the ends of her hair. Kyle Richards' daughter Sophia, 25, reveals her hair is falling out after taking weight loss drug saying 'I'm gonna be bald!' Fleur then went on to use a hair mask on the rest of her hair before putting it into a low ponytail and letting the products sit for a few hours. The beauty fan said the combination had kept her hair thick and healthy and people were eager to try it out. The clip went viral on her TikTok account @fleureleanorgreen with over 2.5 million views. One person wrote: "You got me to get the batana oil, I've noticed the difference already." Hair loss tips We can lose between 50 and 100 hairs a day, according to the NHS. It is not usually something to worry about, but occasional it can be a sign of a medical concern. These include illness, stress, cancer treatment, weight loss and iron deficiency. The NHS advises to book an appointment with your GP to see if you can get to the cause of it. Experts at American Academy of Dermatology Association also recommend to eat healthy, limit curling irons and only use them for special occasions. They also recommend using a gentle shampoo, and make use of leave-in conditioners. Another commented: 'You have the most incredible hair girl." "Absolutely love these hair oils and hair brush," penned a third. Meanwhile a fourth said: "Wow need to copy this routine." "Your hair is unreal,' claimed a fifth. Someone else added: 'Hair oiling has helped my hair grow so much faster I fear I have too much now."
NBC News
2 hours ago
- NBC News
At least 1.7 million eggs recalled as the CDC and FDA investigate multistate Salmonella outbreak
The Centers for Disease Control and Prevention and the U.S. Food and Drug Administration are investigating a multistate Salmonella outbreak linked to at least 1.7 million eggs, according to a news release issued on Saturday. The brown cage free and brown certified organic eggs were distributed by the August Egg Company from February 3 through May 15 to retailers in nine states — California, Nevada, Washington, Arizona, Nebraska, New Mexico, Illinois, Indiana and Wyoming, per the U.S. Food and Drug Administration. In an announcement issued Friday, the Hilmar, California-based distribution company recalled 1,700,000 eggs, which have sell by dates ranging from March 4 to June 19 and were sold at retailers including Walmart and Safeway, as well as under many different brands that can be seen here. So far, the outbreak has sickened 79 people in New Jersey, Kentucky, Nebraska, Nevada, Arizona, Washington and California, the CDC said. At least 21 people have been hospitalized, and no deaths have been reported. "This outbreak may not be limited to the states with known illnesses, and the true number of sick people is likely much higher than the number reported," the CDC said. "This is because many people recover without medical care and are not tested for Salmonella." Salmonella are bacteria that can make people sick if they consume contaminated food and water, or touch animals, their fecal matter or the areas they live in, according to the CDC. It is "a leading cause of food-borne illness, hospitalizations, and deaths in the United States and worldwide," causing about 1.35 million infections in the U.S. every year. Symptoms include diarrhea, fever, and stomach cramps and can start six hours to six days after consumption of the bacteria. Children under five, the elderly and people with weakened immune systems can become seriously ill as a result of contracting Salmonella. The CDC is advising anyone that has the recalled eggs in their home to throw them away or return them to the retailer that sold it to them. Businesses with recalled eggs should not sell or serve them, and should sanitize any item or surface that came into contact with the eggs. The August Egg Company said they began taking their eggs to an "egg-breaking facility" to pasteurize them and kill pathogens after learning about the Salmonella concern. "August Egg Company's internal food safety team also is conducting its own stringent review to identify what measures can be established to prevent this situation from recurring," the company said in a statement. "We are committed to addressing this matter fully and to implementing all necessary corrective actions to ensure this does not happen again." This isn't the only Salmonella outbreak the U.S. is currently grappling with. Last month, the FDA announced a recall of cucumbers grown by Bedner Growers and distributed by Fresh Start Produce Sales due to a Salmonella outbreak that has sickened 45 people and hospitalized 16 across 18 states. The FDA's investigation into the cucumbers is ongoing.
