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RARE ILLNESS
Irish Daily Mirror
|August 23, 2025
As Ashleigh and Daniel Bradshaw enjoy a cuddle with their daughters, no one would guess that both little girls are medical miracles.
But Maddy, nine, is one of only 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 the condition was discovered.
Maddy was diagnosed when she was three months old after her parents noticed bruising on her stomach.
Ashleigh, 39, who lives with Daniel and their daughters in Harlow, Essex, says: “We'd been out to celebrate Valentine's Day, came home and I noticed Maddy had a bruising-type rash on her, which we had never seen.”
Worried it could be meningitis, she went on: “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.
“Blood tests showed that she had no red or white blood cells, or any platelets.”
Maddy was blue-lighted to London's Great Ormond Street Hospital, where further tests revealed she had congenital bone marrow failure, caused by the rare gene mutation.
Daniel, also 39, is a carrier and several members of his family also have the gene mutation. 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.
A donor match was found for her in the UK and in July 2016, when she was eight months old, a successful transplant was performed.
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