Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

Mother whose baby has a rare condition that causes seizures which most children don’t survive now has hope after finding a 20-year-old US man who’s her ‘genetic twin’ on Facebook

  • Isla Steel, from Southport, Merseyside,was diagnosed with NKH at five-days-old 
  • The condition leads to low muscle tone, lethargy, seizures, coma, and apnoea  
  • Mum, Sarah began researching condition and found her genetic twin in America
  • The mother says 20-year-old American Eric has given her hope for her daughter 

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The mother of a baby girl, born with a deadly genetic disease, has been given ‘hope’ thanks to a twenty-year-old American man – who has the same disease as her daughter.

Isla Rose Steel, from Southport, Merseyside, was diagnosed with a rare condition,  which affects only 15 children in the UK, after her mother spotted her twitching uncontrollably when she was just five days old.

Mother, Sarah Steel, 33, refused to listen to health care workers who told her Isla Rose had ‘baby tremors’ and instead took her straight to hospital.

Sarah Steel (pictured) 33,from Southport, Merseyside has been given ‘hope’ by a 20-year-old American who has the same disease as her baby daughter Isla Rose (pictured) 

Isla (pictured) was diagnosed with a rare condition, which affects only 15 children in the UK, when she was just five years old

Doctors eventually discovered that she had the life-threatening condition, Nonketotic Hyperglycinemia (NKH), which leads to low muscle tone, lethargy, seizures, coma, and apnoea, even requiring ventilator support.

Isla Rose, who is now 13 months old, must now take 17 syringes of medicine every day and has five hours of daily developmental therapy. While her devoted mother is on 24-hour seizure watch.

Doctors have been unable to give Sarah a long-term prognosis for her daughter, but she has now found Isla’s ‘genetic twin’ on Facebook – and says that his story has given her ‘hope and strength to face the future.’

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

Eric Carter (pictured) from Rhode Island, USA, shares the same condition as Isla and overcame the grim outlook given to him by medics

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

The baby has life-threatening condition, Nonketotic Hyperglycinemia (NKH) which leads to low muscle tone, lethargy, seizures, coma, and apnoea 

Sarah a personal trainer says: ‘When Isla started twitching, I had an instinct something was very wrong.

‘But healthcare professionals both told me I was over-reacting and I felt like I was a neurotic first-time mum.

‘But I just wasn’t happy and when it happened again, I took her to hospital. When we got the test results, I was devastated.

We were told there were only 15 kids surviving in the UK and the outlook was bleak.’

Doctors confirmed she was suffering seizures and eventually diagnosed her with nonketotic hyperglycinemia (NKH). To her horror, Sarah was told that only 15 children in the UK are currently surviving the illness and that many die in infanthood.

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

At home, Isla began a regime of taking a staggering 17 syringes of medicine a day due to low immunity

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

Sarah gave up her job as a personal trainer to care of her daughter, and sadly her relationship soon broke down

At home, Isla began a regime of taking a staggering 17 syringes of medicine a day. Due to low immunity, she was also advised to stay indoors and away from other children.

Sarah gave up her job as a personal trainer to care of her – and sadly her relationship with her partner Michael broke down under the strain.

She says: ‘I was determined not to give up on Isla.

I began researching the condition and I found her genetic twin, Eric, in America.

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

From an early age Eric was introduced to sports, and his mother says she realizes how important it is for her son to ‘live life to the full’ 

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

Eric rides his bicycle every day through rain, snow, cold, hot weather – and he  dreams of one day moving out into his own home with a garage

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

Eric’s mother, Dorrie Carter, (pictured left), and Sarah have now become transatlantic friends.

Eric (far right) is pictured here with his parents and brothers

‘I have formed a bond with his family, and they have given me lots of hope and a positive focus for the future.

‘Eric has a flip at .22 in his DNA – just as she has.

‘And the news was brilliant –  he is 20 years old and he plays sport and enjoys life. It really gave me hope.’

Eric’s mother, Dorrie Carter, from Rhode Island, and Sarah have now become transatlantic friends.

Mother of three Dorrie, 54, says: ‘Sarah and I have connected. We were much further down the line and the very fact that Eric was alive and well and living a full life meant the world for Sarah, I know how alone she must have felt.

What is Nonketotic Hyperglycinemia (NKH)?  

Nonketotic hyperglycinemia, NKH for short, is a rare genetic disorder that affects 1 child in every 60,000 born. 

Children with this condition have a problem breaking down the amino acid glycine. 

This is caused by a defect in the genetic code for the machinery that is responsible for the glycine breakdown (called glycine cleavage enzyme).

 Amino acids are natural components of our body.  

Source: NHK International Family Network 

‘We saw many similarities in the two and shared photographs of those similarities as well with each other.

It’s been a nice connection and I love sharing our successes with Sarah in the hope that she and Isla will have an easier time of it. It’s been a very long and difficult journey for us.’

Dorrie revealed how her son has overcome the grim outlook given to him by medics.

She says: ‘From an early age, he’s been introduced to sports.

‘He rides his bicycle every day through rain, snow, cold, hot weather and plays golf, goes sailing, belongs to a weekly bowling league, plays basketball, softball and Volleyball.

‘His dreams are to one day move out into his own home with a garage, an orange truck (he has passed the written part of the driving test), he wants to get 2 dogs, find a girlfriend and get married one day. ‘

Non-ketotic hyperglycinemia (NKH) is a genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body’s tissues and fluids.

Sarah says: ‘They had no idea of the severity of Isla’s condition because it varies a lot and there are so few other children for them to study. They couldn’t tell me how long she would live or how she would be.

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

Sarah says doctor’s had ‘no idea of the severity of Isla’s condition’ – caused by a defect in the enzyme system that breaks down the amino acid glycine

Mother of baby girl with deadly genetic disease given hope after discovering her 'genetic twin'

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 

‘It was devastating, but getting to know Eric and Dorrie has given us real hope for the future.

They have been our life-line.’

The 33-year-old 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 group, The Isla Rose Foundation.

They have a GBP3 million target.

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