Mum 'shattered' to learn daughter will never speak due to rare genetic condition

Leigh Grant, 34, and her fiance, Elliot Oxley, 29, welcomed their second daughter Etta, one, in October 2022 - but they noticed something was wrong with her development

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

Leigh Grant, 34, from Sutton-on-the-Hill, Derbyshire, and her fiance Elliot Oxley, 29, welcomed their second daughter Etta in October 2022. However, they soon noticed that her development wasn't progressing as expected when compared to their first child, Florence, now five.

Leigh, who runs a hair extension business, said Etta wasn't hitting the usual milestones like crawling and talking. After turning one, Etta began suffering from eye-rolls, seizures and severe vomiting, leading to three separate hospital admissions.

Despite her vitals repeatedly coming back normal, Leigh and Elliot sought further answers and opted for private care. In July this year, a neurologist diagnosed Etta with Rett syndrome, a rare neurological and developmental disorder that affects brain growth.

The news left the couple "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. Now, the parents are hesitant about having more children, fearing they too might have the rare condition, even though they don't carry the gene themselves.

The family are pinning their hopes on gene therapy in the US to replace the faulty gene responsible for her illness. The treatment is complex and expensive, leading a family friend to launch a GoFundMe campaign to aid them financially.

"We were shattered and we don’t know why this has happened to us," Leigh said. "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 typically manifests between six to 18 months of age and mainly affects girls. It causes language and coordination impairments, repetitive movements, and those with the condition often experience slower growth, walking difficulties, and smaller head size.

Leigh and her husband Elliot, who works as a director for Pearce Interiors, faced a scare when Etta's heart rate dropped during labour, necessitating an emergency C-section. Despite initial health concerns post-delivery, Leigh recalls that "everything was fine" when they brought Etta home, although she noted her daughter 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," Leigh explained. Leigh explained that her daughter Etta seemed to develop normally for the initial six months but grew concerned when she wasn't reaching her milestones. "She could sit but if she fell, she couldn’t get back up," Leigh revealed.

"She wasn’t trying to crawl and she was babbling but she wasn’t grasping any of the words." Shortly after Etta turned one, Leigh said she started to suffer with worrying 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." Despite hospital visits and numerous tests showing Etta's vitals were normal, the mystery persisted. They consulted with a private paediatrician who recommended genetic testing for Leigh and her partner Elliot.

After an agonizing six-month wait, results showed a mutation on the MECP2 gene responsible for Rett syndrome. The official diagnosis by a neurologist came in July, giving a name to Etta's condition.

"We don’t carry the gene, which is crazy, so it’s even more rare because it’s happened in the womb," Leigh revealed. "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." Leigh said that the family are still waiting to speak to a genetic specialist about Etta’s future, but she said 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," Leigh explained, adding that Etta has been undergoing physiotherapy sessions 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."

Speaking about the emotional toll, Leigh said 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 admitted. "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 fiance 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: gofundme.com/f/27k62-help-for-etta.