A DEVASTATED mum has spoken of her heartbreak after her newborn baby died at six days old from an incurable genetic condition.
Emily Anthony was unable to open her eyes, experienced fits and had her jaw clamped shut before she lost her brave battle with Non-Ketotic Hyperglycinemia (NKH) – a disorder characterised by abnormally high levels of a molecule called glycine which attacks the brain.
Mum Rachael Fawcett has now set-up a webpage for parents in the UK offering support after she discovered little information was available.
In an emotional interview with the Free Press, Miss Fawcett told how she and partner Karl Anthony began noticing problems when they took Emily back to their home in Adlard Road, Wheatley Hills, five hours after she was born.
“Her reflexes were checked and appeared normal, she took some milk too before we took her home but she still hadn’t opened her eyes, that’s when I started to think something was wrong,” said the 30-year-old.
“We kept getting told she was just tired and I thought I was getting worked up over nothing. However, then her jaw clamped down and she wasn’t taking any milk at all.”
Having seen consultants who were bamboozled by her condition, it was suggested that when Emily was moving and kicking her legs she was in fact having fits – one of the symptoms of NKH.
“It was like slow motion when I heard that. We didn’t know what to do, we were mortified that our little daughter was going through pain having fits,” said Miss Fawcett, who also has a three-year-old son Charlie with Karl.
“When I was 25 weeks gone, I said that Emily was moving a lot and was told she was having hiccups. I thought it was strange because it happened a lot. Then after she was born we were told they were fits.
“I was absolutely mortified she was fitting when I was carrying her.”
A CT scan failed to show up any problems with Emily’s brain.
Rachael and Karl were constantly taking Emily to and from Doncaster Royal Infirmary and Sheffield Children’s Hospital after she struggled to breathe on her own.
With her brain activity showing little signs of improvement at five-days-old, doctors concluded that Emily was suffering from NKH.
Tragically at that point her organs began to shut down and she was having constant seizures.
Miss Fawcett, who has three children from a previous relationship, said: “It was just horrific seeing her being unresponsive, her lungs didn’t do anything. She was still fitting and they were causing more and more damage.
“They told us that now was the right time to let her go. We were devastated, we couldn’t move, it was all a bit surreal.
“When we took her off the ventilator she went on breathing by herself for 20 hours, she was so brave but then we lost her.”
Having to come to terms with Emily’s death on November 16, her parents set out on a mission to find information about NKH.
With very few cases in Britain, they turned to America finding examples on the internet.
This led Miss Fawcett to set up a webpage on Facebook called ‘NKH UK’ in a bid to offer support for other parents.
She said: “Trying to find out any information about NKH was like hitting your head against a brick wall.
“After speaking to people in America on Facebook, we found about 20 people in Britain who had cases of NKH and we’re getting new people join the online group every day.
“We wanted to do something that would help others and not see them having to go through our experience.
“If we can make people aware of this condition, then people might come forward and we all might be able to help each other get through this.
“It still hurts, it can trigger at any point. I could be going into town and see a mum with her baby and that just sets me off. It’s the fact we won’t be able to have any milestones with Emily like her first birthday or anything like that which really hurt.”
Miss Fawcett, friends, family and other parents will be taking their children on a sponsored pram walk to raise money and awareness about the condition on April 1.
They have asked for boys to dress as superheroes and girls to come as angels for the trek setting off from The Dome at noon and which go through Lakeside.
For more information visit www.facebook.com and search ‘NKH UK’