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

Leigh Grant, 34, and her 29-year-old fiance, Elliot Oxley, have been left "shattered" after learning that their one-year-old daughter, Etta, may need lifelong care

A mother was left "shattered" after discovering her young daughter has a rare genetic condition affecting her brain, meaning she will never be able to 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 differed from that of their first child, Florence, now five. Leigh, who runs a hair extension business, said Etta wasn't "meeting the usual milestones" like crawling and talking.

After turning one, Etta began experiencing eye-rolls, seizures and "projectile 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 genetic neurological and developmental disorder that affects brain growth. The news left the couple "shattered", as their daughter will "never speak", may struggle to walk or use her hands, and could need lifelong care.

Leigh revealed that she and her partner are now hesitant about having more children, fearing they too might have the rare condition, even though they don't carry the gene themselves.

The family of little Etta are pinning their hopes on gene therapy in the US to correct the faulty gene responsible for her condition, despite the treatment's extensive duration and hefty price tag. To aid with the costs, a family friend has initiated a GoFundMe campaign.

"We were shattered and we don’t know why this has happened to us," Leigh told 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 manifests between six to 18 months of age and predominantly affects girls.

The condition can lead to language and coordination impairments, repetitive movements, and those affected may experience slower growth, walking difficulties, and smaller head size. Leigh and her husband Elliot, who works as a director for Pearce Interiors, welcomed Etta into the world via an emergency C-section after noticing her heart rate was dropping during labour.

Leigh recalled that "everything was fine" following the birth, and they brought their newborn home, although she noted that Etta 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 explained.

Leigh recounted how Etta, her daughter, seemed to develop normally until about six months of age. Concerns began when Etta was around nine months old and wasn't reaching certain developmental milestones.

"She could sit but if she fell, she couldn’t get back up," Leigh said. "She wasn’t trying to crawl and she was babbling but she wasn’t grasping any of the words." The situation escalated after Etta's first birthday when she began suffering 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," Leigh explained. "As a mum, you know it’s not normal – I’ve had a daughter before and I knew these things weren’t normal."

Despite being taken to the hospital on multiple occasions and undergoing tests, no answer was found until they consulted a private paediatric specialist. Following an extended stay in the clinic with numerous tests, the family was advised to take genetic blood tests.

After a prolonged wait of about six months, the results indicated a mutation in Etta's MECP2 gene, which is known to cause Rett syndrome - a fact they were unfamiliar with. It wasn't until July that a neurologist was able to diagnose Etta's condition as Rett syndrome.

"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."

Leigh said the family are still awaiting a consultation with a genetic specialist about Etta’s future, acknowledging the difficulty of predictions 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," she remarked. Leigh also mentioned that Etta has been benefiting from physiotherapy sessions intended 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." Speaking of educational and work prospects, Leigh added, "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."

On the topic of the future, she conceded, "The future is very vague at this point."

Regarding the emotional impact, Leigh revealed, "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 expressed pride in the bond between Etta and her sister Florence: "Florence and Etta have a very, very close bond and she’s a really good help but she doesn’t know any different."

She also reflected on her daughter's disposition: "my daughter is 'the happiest little girl' which 'makes it even more sad'."

Leigh and her fiancé are currently undecided about having more children due to the risk they may also be afflicted by Rett syndrome. The family is exploring gene therapy in America, which, although not a cure, could potentially lessen the severity of Etta's symptoms.

Describing the prospective treatment, Leigh commented that it's "not a cure" but might allow those affected "the best life they can have" Leigh has expressed concerns about the financial implications of such treatment: "I don’t know how much it will be but I know it’s going to cost a lot of money," she said. The costs would be beyond the procedure itself, encompassing travel and accommodation during their stay in the US.

A conversation with a specialist is needed before proceeding. To assist with the expenses, a close family friend has initiated a GoFundMe campaign that has already garnered over £10,000.

Leigh is moved by the support: "It’s so nice people are wanting to help out," and added, "It’s touched our hearts that people are going over and above for our daughter."

For those interested in learning more or contributing, the family's GoFundMe page can be accessed at gofundme.com/f/27k62-help-for-etta.

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