Ashleigh and Daniel Bradshaw welcomed their daughter, who was born with a rare mutation in her MECOM gene, and their second child is the first ‘designer baby’ to be born
As Ashleigh and Daniel Bradshaw enjoy a cuddle with their daughters, no one would guess that both little girls are medical miracles. Maddy, nine, is one of only around 50 people worldwide with a rare mutation in her MECOM gene, causing bone marrow failure, while 21-month-old Sophie is the first ‘designer’ baby to be born after this condition was discovered.
Maddy was diagnosed at three-months-old, after her parents noticed bruising on her stomach. “We’d been out to celebrate Valentine’s Day and we came home and I noticed she had a bruising type rash on her body, which we had never seen before,” Ashleigh, 39, who lives with Daniel, 39, and their daughters in Harlow, Essex, tells the Mirror.
Worried it was meningitis, she continues: “We did the glass test to be on the safe side and it didn’t disappear, so we took her down to A&E to get checked out.
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“It wasn’t meningitis, but the doctors commented on how pale she was.
“Blood tests showed that she had no red or white blood cells, or any platelets.” Blue-lighted to London’s Great Ormond Street Hospital (GOSH), further tests revealed she had congenital bone marrow failure, caused by the rare gene mutation.
Daniel is a carrier, and several members of his family also have it. As a carrier, he didn’t need a transplant, but Maddy was put on the waiting list for a bone marrow transplant – the only cure – straightaway.
A donor match was found for her from the UK and, at eight months old, in July 2016, thanks to the stranger’s donation, a successful transplant was performed, since which she has enjoyed a normal life. Ashleigh continues: “She made a great recovery, and we will never be able to thank that donor enough for what they did. We don’t know who they are, but they gave Maddy a second chance at life.”
The family’s only real sadness was that they had at least a 50 per cent chance of having another baby with the same condition. And no one wanted another baby in the house more than Maddy.
Ashleigh says: “She kept asking if she could be a big sister – there are lots of her school friends who had siblings, and we had to explain that we couldn’t have another baby because the risk was too great. She was very young, but she understood that what she’d had could be passed on to another baby too.”
But GOSH doctors came up with an amazing solution, which had never been done before with anyone in the world who had this condition. Through IVF and embryo selection – a process called preimplantation genetic testing (PGT) they could select an embryo free from the genetic defect – and potentially give little Maddy the sibling she had dreamed of.
“It had never been done before for chronic bone marrow failure with this mutation, but the gene has been identified, so they said we could try IVF and a technique where embryos are selected without a certain genetic defect,” explains Ashleigh. “It was very exciting news to hear, and gave us a ray of hope”
PGT entails developing embryos in a laboratory. Then a few cells from each embryo are taken and tested for the faulty gene, and only embryos free from the condition are transferred to the womb.
“We were astonished when we were told that we could try this, and we were willing to try anything that could potentially give Maddy the sibling she wanted so much,” says Ashleigh. So the couple went to a London clinic for the treatment, having applied for NHS funding and a license for it to go ahead.
The doctors developed four embryos and tested them for the faulty gene, finding just one to be viable, which was put back into Ashleigh’s womb. She says: “We only had that one chance, so we were praying that it was going to work.
“Two weeks later I had a positive pregnancy test, so we were thrilled, but we kept it from Maddy until we had our first scan at six weeks.
“Then we took the scan photo and showed it to her and broke the news that she was going to have a baby brother or sister. She was beyond excited, she couldn’t believe it. We explained to her that doctors had been able to help.”
Baby Sophie was born in October 2023 and was perfectly healthy. Ashleigh adds: “Maddy is an amazing big sister and dotes on Sophie. The two of them are inseparable.
“Maddy competed in this year’s British Transplant Games and won a silver and bronze medal, and Sophie was there to cheer her on.
“It’s amazing that there has been the science to give Maddy her little sister.”
Tanya Dexter, Senior Medical Officer at bone marrow charity Anthony Nolan, says: “PGT is an expanding technique and has been done for a range of conditions.
“Bone marrow makes the red blood cells and platelets and an inherited genetic abnormality like this will mean that part of the bone marrow will fail. If this baby had been born with the condition, then they would have needed a transplant too, to survive.
“Having a transplant isn’t easy. Doctors need to give chemotherapy prior to the transplant and then there is a chance that the new donated cells will attack the body, which can be lifethreatening too. So this has allowed a healthy baby to be born, and avoided the need for a transplant, which is much better.”
Asma Khalil, Professor of Obstetrics and Maternal Fetal Medicine, at St George’s Hospital in London, adds: “For families like Ashleigh’s who are living with the fear of passing on a serious genetic disease, PGT can be life-changing. It gives them a chance to welcome a baby knowing that their child will be free from the condition that has affected their family.
“It’s an amazing advance in science.”
