Mum knew something might be wrong with her baby but was left 'shattered' by final test results

A mother was left "shattered" after discovering her young daughter has a rare genetic condition affecting her brain, which means she will never be able to speak, may struggle to walk and could require lifelong care.

Leigh Grant, 34, from Derbyshire, and her fiancé Elliot Oxley, 29, welcomed their second daughter, Etta, in October 2022. However, they noticed something wasn't right with her development when comparing her early months to those of their first child, Florence, who is now five.

Leigh, who runs a hair extension business, noted that Etta wasn't "meeting the usual milestones" such as crawling and talking. After turning one, Etta began experiencing episodes of eye-rolls, seizures and "projectile vomiting", leading to her being rushed to hospital on three separate occasions.

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Despite her vitals repeatedly coming back normal, Leigh and Elliot sought further answers and opted for private healthcare.

In July this year, a neurologist diagnosed Etta with Rett syndrome, a rare genetic neurological and developmental disorder that affects brain growth. The news left Leigh and Elliot "shattered", knowing their daughter will "never speak", may struggle to walk or use her hands, and could need care for the rest of her life.

The couple are now hesitant about having more children for fear they too might have the rare condition, even though neither parent carries the gene themselves. The family are pinning their hopes on gene therapy in the US to treat their daughter Etta's condition by replacing the faulty gene, despite the long and costly process. A GoFundMe page has been launched by a friend to help with expenses.

"We were shattered and we don't know why this has happened to us," shared Leigh with PA Real Life. "How have we got one healthy daughter and then this has happened?

"Etta's had such severe sickness that she's never put weight on she's nearly two but she still looks like a six-month-old."

Rett syndrome is a rare genetic disorder that usually becomes noticeable after six to 18 months of life, affecting mainly girls. The symptoms involve issues with language and coordination, repetitive movements, and typically include slower growth, difficulties in walking, and smaller head size.

Leigh and her partner Elliot, who works for Pearce Interiors as a director, had second daughter Etta delivered by emergency C-section when her heart rate decreased during labour. The mother recalled that "everything was fine" post-delivery and they returned home with Etta, although she was "a little bit poorly to start with".

"Because of the C-section, she had quite a lot of mucus on her chest so she suffered with a cough, a cold and her immune system seemed to be really, really weak," she said. Leigh shared that Etta "developed as normal" for the first six months, but by the time she was nine months old, Leigh began to worry as Etta wasn't reaching her developmental milestones.

"She could sit but if she fell, she couldn't get back up," Leigh explained. "She wasn't trying to crawl and she was babbling but she wasn't grasping any of the words."

Shortly after Etta's first birthday, Leigh noticed worrying signs such as eye-rolls and seizures. "Every time she would go to bed at night, she would be fine for about half an hour but then she'd cough, she'd projectile vomit and then these seizures would start," she said.

"As a mum, you know it's not normal I've had a daughter before and I knew these things weren't normal."

Following these episodes, Etta was rushed to their local hospital on three separate occasions but despite numerous tests, her vitals were found to be normal. Leigh then decided to take Etta to a private paediatric consultant who admitted Etta into their care where she underwent "every test going" over a 10-day period. However, no cause for her symptoms could be identified.

Leigh revealed that their private consultant suggested she and Elliot undergo genetic blood testing, which took around six months to complete. They were then informed that Etta has a mutation on her MECP2 gene which causes Rett syndrome.

Leigh revealed that the family "had no idea" what they were facing until a neurologist diagnosed Etta with Rett syndrome in July this year. "We don't carry the gene, which is crazy, so it's even more rare because it's happened in the womb," Leigh explained.

"There's nothing to say she won't be able to walk, it will be a long way to get there, but one thing we know for a fact is that she will never talk; it's one thing we can guarantee with Rett's as they lose their ability to speak. I think she's going to need care for the rest of her life."

The family is still awaiting a consultation with a genetic specialist to discuss Etta's future, but Leigh admits it's hard to predict as "no case is the same".

"She has days where she's stronger than others and you can tell she gets frustrated as she wants to move but she's not got the strength," said Leigh, noting that Etta is receiving physiotherapy to aid her development. "She can't really use her hands so she can't really interact with toys or anything but she likes lights and sensory things.

"She will have to go to a special school, getting a job I would imagine is highly unlikely but we don't know until we get there. The future is very vague at this point."

Regarding the emotional impact, Leigh shared that her daughter is "the happiest little girl", which "makes it even more sad". "You do have days where you sit and cry, that's completely normal, and I think as a family, we've done really well," she concluded.

"Florence and Etta have a very, very close bond and she's a really good help but she doesn't know any different."

Leigh and her fiancé are now "on the fence" about having more children with the thought they too could suffer with Rett syndrome. The family are also considering gene therapy in America, which would involve brain surgery to replace the faulty gene causing Etta's condition.

Leigh said it is "not a cure" but it is thought to minimise the symptoms to give those "the best life they can have".

"I don't know how much it will be but I know it's going to cost a lot of money," Leigh said, adding they will need money for travel and accommodation costs alongside the fees for the procedure but they are waiting to speak to a specialist for more details on the process before going ahead.

A family friend has set up a GoFundMe page to help support them, raising more than £10,000 so far. "It's so nice people are wanting to help out," Leigh said.

"It's touched our hearts that people are going over and above for our daughter."

To find out more, visit the family's GoFundMe page here.