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

Leigh Grant, 34, and her fiance, Elliot Oxley, 29, welcomed their 2nd girl Etta, one, successful October 2022 - but they noticed thing was incorrect with her development

A mum was near "shattered" aft discovering her young girl has a uncommon familial information affecting her brain, meaning she volition ne'er speak, whitethorn conflict to locomotion and could necessitate lifelong care.

Leigh Grant, 34, from Sutton-on-the-Hill, Derbyshire, and her fiance Elliot Oxley, 29, welcomed their 2nd girl Etta successful October 2022. However, they soon noticed that her improvement wasn't progressing arsenic expected erstwhile compared to their archetypal child, Florence, present five.

Leigh, who runs a hairsbreadth hold business, said Etta wasn't hitting the accustomed milestones similar crawling and talking. After turning one, Etta began suffering from eye-rolls, seizures and terrible vomiting, starring to 3 abstracted infirmary admissions.

Despite her vitals repeatedly coming backmost normal, Leigh and Elliot sought further answers and opted for backstage care. In July this year, a neurologist diagnosed Etta with Rett syndrome, a uncommon neurological and developmental upset that affects encephalon growth.

The quality near the mates "shattered", knowing their girl volition ne'er speak, whitethorn conflict to locomotion oregon usage her hands, and could request attraction for the remainder of her life. Now, the parents are hesitant astir having much children, fearing they excessively mightiness person the uncommon condition, adjacent though they don't transportation the cistron themselves.

The household are pinning their hopes connected cistron therapy successful the US to regenerate the faulty cistron liable for her illness. The attraction is analyzable and expensive, starring a household person to motorboat a GoFundMe run to assistance them financially.

"We were shattered and we don’t cognize wherefore this has happened to us," Leigh said. "How person we got 1 steadfast girl and past this has happened? Etta’s had specified terrible sickness that she’s ne'er enactment value connected – she’s astir 2 but she inactive looks similar a six-month-old."

Rett syndrome typically manifests betwixt six to 18 months of property and chiefly affects girls. It causes connection and coordination impairments, repetitive movements, and those with the information often acquisition slower growth, walking difficulties, and smaller caput size.

Leigh and her hubby Elliot, who works arsenic a manager for Pearce Interiors, faced a scare erstwhile Etta's bosom complaint dropped during labour, necessitating an exigency C-section. Despite archetypal wellness concerns post-delivery, Leigh recalls that "everything was fine" erstwhile they brought Etta home, though she noted her girl was "a small spot poorly to commencement with".

"Because of the C-section, she had rather a batch of mucus connected her thorax truthful she suffered with a cough, a acold and her immune strategy seemed to beryllium really, truly weak," Leigh explained. Leigh explained that her girl Etta seemed to make usually for the archetypal six months but grew acrophobic erstwhile she wasn't reaching her milestones. "She could beryllium but if she fell, she couldn’t get backmost up," Leigh revealed.

"She wasn’t trying to crawl and she was babbling but she wasn’t grasping immoderate of the words." Shortly aft Etta turned one, Leigh said she started to endure with worrying eye-rolls and seizures. "Every clip she would spell to furniture astatine night, she would beryllium good for astir fractional an hr but past she’d cough, she’d projectile vomit and past these seizures would start," she said.

"As a mum, you cognize it’s not mean – I’ve had a girl earlier and I knew these things weren’t normal." Despite infirmary visits and galore tests showing Etta's vitals were normal, the enigma persisted. They consulted with a backstage paediatrician who recommended familial investigating for Leigh and her spouse Elliot.

After an agonizing six-month wait, results showed a mutation connected the MECP2 cistron liable for Rett syndrome. The authoritative diagnosis by a neurologist came successful July, giving a sanction to Etta's condition.

"We don’t transportation the gene, which is crazy, truthful it’s adjacent much uncommon due to the fact that it’s happened successful the womb," Leigh revealed. "There’s thing to accidental she won’t beryllium capable to walk, it volition beryllium a agelong mode to get there, but 1 happening we cognize for a information is that she volition ne'er speech – it’s 1 happening we tin warrant with Rett’s arsenic they suffer their quality to speak."

"I deliberation she’s going to request attraction for the remainder of her life." Leigh said that the household are inactive waiting to talk to a familial specializer astir Etta’s future, but she said it's hard to foretell arsenic "no lawsuit is the same".

"She has days wherever she’s stronger than others and you tin archer she gets frustrated arsenic she wants to determination but she’s not got the strength," Leigh explained, adding that Etta has been undergoing physiotherapy sessions to assistance her development. "She can’t truly usage her hands truthful she can’t truly interact with toys oregon thing but she likes lights and sensory things."

"She volition person to spell to a peculiar school, getting a occupation I would ideate is highly improbable but we don’t cognize until we get there. The aboriginal is precise vague astatine this point."

Speaking astir the affectional toll, Leigh said her girl is "the happiest small girl" which "makes it adjacent much sad". "You bash person days wherever you beryllium and cry, that’s wholly normal, and I deliberation arsenic a family, we’ve done truly well," she admitted. "Florence and Etta person a very, precise adjacent enslaved and she’s a truly bully assistance but she doesn’t cognize immoderate different."

Leigh and her fiance are present "on the fence" astir having much children with the thought they excessively could endure with Rett syndrome. The household are besides considering cistron therapy successful America, which would impact encephalon country to regenerate the faulty cistron causing Etta’s condition.

Leigh said it is "not a cure" but it is thought to minimise the symptoms to springiness those "the champion beingness they tin have". "I don’t cognize however overmuch it volition beryllium but I cognize it’s going to outgo a batch of money," Leigh said, adding they volition request wealth for question and accommodation costs alongside the fees for the process but they are waiting to talk to a specializer for much details connected the process earlier going ahead.

A household person has acceptable up a GoFundMe leafage to assistance enactment them, raising much than £10,000 truthful far. "It’s truthful bully radical are wanting to assistance out," Leigh said. "It’s touched our hearts that radical are going implicit and supra for our daughter."

To find retired more, sojourn the family’s GoFundMe leafage here: gofundme.com/f/27k62-help-for-etta.