Family from East Lancashire devastated as six-day-old baby dies of rare condition (From Lancashire Telegraph

Family from East Lancashire devastated as six-day-old baby dies of rare condition A SIX-DAY-OLD baby has died from a rare condition, leaving her family totally devastated.

Ava Mae Linde Jackson had been allowed home after a normal birth, but her parents Charlene Young, 27, and Tom Jackson, 26, began to worry when she wasn’t feeding properly.

She was admitted to hospital for tests where the couple were told the heartbreaking news she had Nonketotic Hyperglycinemia, or NKH, a rare metabolic condition.

Now they want to raise awareness of the condition, and are planning to fund raise for NKH charities in memory of their daughter.

Tom said: “We didn’t know anything about the condition. We still don’t know a lot about it yet, but we’re looking into it.

“It only affects one in every 64,000 babies. It’s unfortunate that me and Charlene both carry the gene.”

The couple said they had no idea that anything was wrong with Ava until they took her home from hospital.

“She wasn’t really feeding much, but the midwife said it was normal.

“When the midwife came round two days later she tried feeding her and tried to get her to respond but she was very drowsy.

“We went back over to Burnley and thought it would just be a matter of doing something to get her to feed.

“We thought we’d be coming home, but they did a couple of observation tests and admitted her.”

The couple said Ava was also not responding to pain, and didn’t even flinch when doctors performed a lumbar puncture.

After ruling out problems with her heart, liver, lungs and kidney, doctors eventually tested for NKH and Ava was diagnosed.

The condition is so rare that one of the specialists treating Ava had not come across it in his 40 year career.

Tom and Charlene have been told there is a 1 in 4 chance of any further children inheriting the condition.

But now doctors are aware of the risks, tests can be carried out as early as ten weeks into pregnancy.

The couple now plan to have their other daughter Ella, 3, who appears to be very healthy, tested along with Tom’s nieces and nephews.

Charlene said Ava had one of the most severe forms of the condition.

She said: “She couldn’t have lived. She would never have been able to see or sit up or stand up.

“She would have been hardly able to open her eyes. It’s no life.”

She said the family was most grateful for being able to spend time with their daughter at home.

Charlene said: “The best thing was we got her home for two days, and we’re thankful for that.

“People came to visit her, and I spent one night in bed with Ava and Ella just cuddling.

“We were blessed with that time.”

The couple said the experience has been very difficult for them.

Charlene said: “She was so perfect. It’s horrible. Nobody expects to bury their daughter. When I see other women with their babies I get upset.

“We went to see her yesterday, she’s absolutely beautiful.”

Tom said: “We spent the best part of the year planning for a baby, thinking our lives were going to be that way, but it just doesn’t work out like that. We were so proud, being at home with both our daughters. We went from the happiest day of our lives, to the worst day that we’ll probably ever have to go through.”

Charlene added: “Ella makes us smile, she keeps us going. From the moment she wakes up to the moment she goes to sleep, she won’t stop talking.”

Sitting with her mum and dad, Ella said: “Ava’s a baby angel now. She’s up in the sky. When we’re sad we look at a picture of her.”

The couple said that the love and support of their families had helped them to cope.

Charlene said: “If it wasn’t for our families we couldn’t have done it. We couldn’t have gone through it on our own. They were feeling it too but they stayed strong for us.”

Charlene said: “I wouldn’t say we’re going to dedicate our lives to it but we’re going to do a lot of things in future.”

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