Mum’s appeal for baby with rare genetic condition
A“PERFECT” baby girl was diagnosed with a rare disease after her mum spotted her twitching five days after she was born.
Mum Sarah Steel from Southport said she had a “lovely pregnancy with no problems” and worked right up until two weeks before she was due to give birth.
But five days after she was born, Isla Rose Steel started twitching her hands.
Sarah was told by a midwife and health visitor these were just “baby tremors”, until three days later Isla – who is now one – had a similar spasm.
But this time her eyes rolled into the back of her head and she was rushed to Ormskirk hospital.
After going back and forth to hospital, Isla had seven weeks of treatment at Alder Hey Hospital and was diagnosed with nonketotic hyperglycinemia (NKH), a rare genetic disorder.
Only about 15 children in the UK survive the condition and 500 around the world.
Sarah, 33, said that when she started Googling the life expectancy and symptoms of the disorder, it felt as though she “had been shot and it takes the wind out of your sails.”
She said: “I had a lovely pregnancy and no problems. I worked right up until two weeks before the birth and had a natural birth.
“I took Isla home and five days later I noticed twitching in her hands.
“I told the midwife and the health visitor and they just said it was baby tremors. Three days later her eyes rolled up and I took her straight to Ormskirk hospital, they checked her for everything like meningitis and viral infections.
“This was in the October and she had lumbar punctures and flushed her system of any viruses, but couldn’t find anything.
“They said I would have to wait till November to get an appointment, but I couldn’t wait and rang up for a cancellation and I ended up getting one that Friday.
“On the Friday, I was changing her nappy and her head was going side to side, so I took her to Alder Hey right away.”
The personal trainer said Isla had numerous tests done to figure out the cause of Isla’s symptoms.
She added: “We were there for seven weeks, she had MRI, ECGs and loads of blood tests - you name it she had it done.
“She was diagnosed with NKH and I immediately thought what was the life expectancy of this?
“I started Googling, which is the worse thing I could do and found out only 500 children in the world are surviving with it.
“I felt like I had been shot and it takes the wind out of your sails.”
The symptoms of the disorder can vary in severity, but children often have seizures and developmental delay with some infants only reaching the milestone of smiling.
Isla now has round-theclock treatment of 17 injections and five hours of development therapies a day.
However, despite being “a little bit delayed” and reaching milestones of a six-month-old, “happy” Isla has had no recent seizures.
Sarah added: “Isla has a milder form and she doesn’t have to rely on a breathing or feeding machine.
“She had the seizures in the beginning, but none since then and I think we have been so lucky.
“Isla’s a little bit delayed, she’s around six months and she is one now, but I have done loads of research and going to different therapies.
“She is doing so well and really, really catching up. She’s a happy baby and has a normal life bar all the medicine she has to take.”
Sarah is now raising money for research of gene replacement therapy, which would work by putting a normal copy of the faulty gene into the children’s cells.
The family are selling wristbands to help raise money for the research and have set up a fundraising page.
To donate to the GoFundMe page uk.gofundme.com/f/ help-for-baby-isla-rose-terminally-ill