Parents’ heartbreak at daughter’s liver illness

LITTLE EVIE MAY NEED MAJOR SURGERY TO SURVIVE

Reporter A DEVASTATED couple have told of their shock at learning they had passed on an incredibly rare genetic condition to their baby daughter.

Simon Owens and Karly Embleton were completely unaware they were carriers of alpha 1 antitrypsin deficiency until it struck down their child Evie.

The 18-month-old, from Longbenton, has severe liver damage as a result of the condition and doctors have said she will not survive without an organ transplant.

Medics are hoping to delay the operation until little Evie grows stronger, but say she will need to go under the knife immediately if her condition deteriorates.

Simon and Karly’s three-yearold daughter Amelia is also a carrier of the condition.

Now care home chef Simon is busy training for the Great North Run in order to raise money for children like Evie with the Children’s Liver Disease Foundation (CLDF).

The couple first learned something was wrong with Evie at a routine doctors’ appointment when she was six weeks old.

“They noticed she was jaundiced so they referred us to a doctor,” said Karly, 29.

“We were in the hospital about a week and a half because they just didn’t know what it was and they had to do loads of different tests.”

The tot was eventually diagnosed with AATD - a rare, inherited condition that affects around one in 4,000 people in the UK, and causes damage to the liver and lungs.

The most common reason for severe deficiency is if you carry an abnormal gene known as Z-AT, which affects the level of your AAT protein.

To inherit AATD, an abnormal gene known as Z-AT must be passed on by both parents.

If someone, like Evie, carries two Z-AT genes, their level of AAT protein will be only 10-20% of what it should be.

Simon, 33, said: “It was devastating to hear Evie had this condition, and that we had passed it down to her.

“I’d never heard of it in my life, and neither had anyone in either of our families.

“The doctors have said if she doesn’t have a transplant she’ll die. “Once she has a transplant they can manage it, but it’s difficult at the moment because she’s still a baby.” Karly was due to start a new job as a care home support worker after maternity leave but had to become a full-time carer for Evie when her condition was revealed. She said: “They have done scans and now realised it’s worse than they thought because she also has cirrhosis of the liver. “They want her to be a bit stronger before they do the transplant but if she needs one they’ll just have to go ahead with it.” Now 18 months old, Evie is unable to eat and is fed through a tube for 10 hours overnight. Karly said: “She picks germs up so easily so she’s always full of cold - she gets every sickness bug that’s going round.” Simon is busy combining shifts as a cook for Four Seasons Health Care with his half-marathon training. He signed up in order to raise £350 for CLDF - but support in Longbenton has seen his fundraising total hit £1,100. To support Simon go to www.justgiving. com/fundraising/ Simon-owens2 Simon Owens