Only 7 people in world have rare condition
A SCOTS baby has been diagnosed with a condition so rare that it affects just six other people in the world.
Seth McFadzean’s parents Carrie and Peter were told by doctors they would be more likely to win the lottery four times in their life than inherit Tetrasomy 18p Mosaicism.
A mother’s instinct told Carrie, 38, from Dunscore in Dumfriesshire, something wasn’t right with Seth shortly after he was born.
She said: “He didn’t seem well, was a poor feeder and lost a lot of weight quite quickly.
“We took him to hospital and he had test after test but
BY JACKIE GRANT everything came back clear. He ended up staying in the neonatal unit at Dumfries Infirmary for seven weeks. He was a wee mystery to all the doctors.
“When we were told he had this extremely rare chromosome condition that affects just six other people in the world, I felt like I’d been shot.”
Seth faces developmental delays, learning difficulties, seizures and eye, heart and kidney problems.
No one can predict what the future holds for the tot who was born on April 29. Carrie and Peter, 40, who are also parents to three-year-old Archie, have to take each day as it comes. Carrie said: “We went through a very dark time and it’s been horrendous but we’re getting on with things. There’s no other option when you’ve got two beautiful little boys to look after.”
Carrie and Peter want to help other families facing a similar devastating diagnosis.
On November 9, they will take part in the first Dumfries Pop-up Kiltwalk to raise money for SOFT UK, which provides support and information to families affected by conditions similar to Seth’s.
They can be sponsored via Carrie’s Facebook page or at her salon, Extend, in Bank Street, Dumfries.