Hope for Baby with Rare Condition, Thanks to Her ‘Genetic Twin’

A ‘genetic twin’ found on Facebook could offer some hope for a baby born with a very rare condition. Isla Steel, from Merseyside, UK, was born with a condition called Nonketotic Hyperglycinemia, or NKH, which can cause intense seizures that many infants don’t survive.

However, mother Sarah Steele was heartened to find Isla’s ‘genetic twin,’ a 20-year-old American named Eric, on Facebook.

a baby who has nonketotic hyperglycinemia
Sarah Steel’s daughter, Isla

Why did Isla’s “Genetic Twin” Bring Sarah Hope?

Eric Carter suffers from the same incredibly rare genetic disorder as Isla. However, he survived his infancy and is now 20 years old, living a happy life in Rhode Island. He did so in spite of the grim prognosis doctors gave his parents when he was an infant. Eric’s mother and Sarah quickly became friends and bonded over their children’s shared genetic disorder.

Eric, who has an identical genetic marker to Isla, had similar issues as an infant as the ones Isla is now having. His mother, Dorrie, also had to care for him and watch for seizures, the same as Sarah is now doing for Isla.

Thankfully, Eric is healthy and happy and living a normal life now that he’s an adult. He plays sports, rides his bike everywhere and is altogether a rather happy individual.

Sarah and Isla Fight NKH

When Sarah was told her daughter had the rare genetic disorder NHK, she was shocked to hear that only 15 other patients in the UK were living with the disorder. The rest, tragically, died due to complications from the seizures. In fact, had Sarah not been so vigilant, the same fate may have awaited Isla.

“When Isla started twitching, I had an instinct something was very wrong,” Sarah told local news. “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.”

However, once she was introduced to Dorrie and Eric over Facebook, and saw that it’s possible for a person to not only survive NKH but also grow and have a normal life, she was given hope. Together, Sarah and the Carters are trying to raise money for research into gene therapy that could hopefully reverse NKH altogether.