Eastbourne parents believe earlier diagnosis could have saved their child

Megan Gillett, 34, and Tom Oakshott, 37, from Eastbourne, were left devastated when they were told that their little girl would start to deteriorate within six months and would be living in a vegetative state for the rest of her short life.

The couple firmly believe that if Nellie had been diagnosed with metachromatic leukodystrophy (MLD) earlier, they would not be preparing to say goodbye to their daughter.

Nellie was born in December 2019 after Megan had suffered a traumatic miscarriage earlier that year.  

Within the first ten months of Nellie’s life her parents began to notice symptoms relating to hypotonia, or “floppy infant syndrome” which means that she has decreased muscle tone. 

There were also signs of neurological issues, such as coughing when she drank and a significant eye squint, which alarmed her parents and led them to seek help.

At 10 months Nellie was seen by a Paediatric Consultant at Royal Alexandra Children’s hospital in Brighton but any mobility concerns were dismissed.

Nellie was only able to crawl by her first birthday and was still unable to walk by the time she turned 18 months old. 

Her GP made several referrals to Eastbourne General Hospital but Megan says they still struggled to get a diagnosis for Nellie. 

Megan said: “We waited months for referrals at every single turn, no teams talked to each other.

“The GP made a referral to a paediatrician when she was 19 months old as she couldn’t walk and they put her in touch with a physio, that wasted months.

“The physio wouldn’t listen to all of her other symptoms like the squint and couldn’t see the ophthalmologist’s report, the coughing when drinking or the on and off progression - all of which point to a neurological disorder. 

“The coughing every time she drank is a sign of aspiration and is extremely dangerous. 

“I had endless conversations with doctors, physios etcetera and no one connected the dots or fast-tracked anything. 

“Every appointment I got I had to beg for and chase. She’s been failed on so many accounts.”

Since December 2021, Nellie has been unable to crawl or even speak as well as she once could. She also developed herpes in her mouth.

On May 14 this year, specialists in London diagnosed MLD, an extremely rare autosomal recessive genetic disorder.

Once it has passed the early stages there is no cure.

Megan said: “I feel like I’ve had to block that day out a bit, I had done so much research so as soon as I walked into the room I knew it was MLD.

“I just hoped that they were going to say it was still juvenile, which means she could have had gene therapy to cure her. But they told us it was infantile. 

“Our hearts just broke that day. I know they will never be repaired. It’s like living in hell.”

Infantile MLD carries a life expectancy of five to eight years but due to the progression of Nellie’s symptoms, Megan says she will deteriorate in around six months. 

She said: “What will happen is all her mobility will shut down to a paralysed position, she will go blind and she won’t be able to talk, she will be unaware of what is happening like a newborn. 

“That generally happens at three and then it depends on how long her chest holds out from there.”

Megan is now calling for earlier diagnoses for MLD and hopes that no other parents have to go through what her family has. 

She is also campaigning for newborn bloodspot tests that screen for MLD to become available for babies in the UK, as she believes this could have allowed for Nellie to be diagnosed earlier.

A spokesman for East Sussex Healthcare NHS Trust, which runs Eastbourne General Hospital, said: “We are sorry to hear of Nellie and her family’s experience in getting a diagnosis for this rare condition. 

“We would welcome meeting with them to discuss their concerns.”

To ensure Nellie lives the rest of her life experiencing joy, her parents have devised a “bucket list” of things to do with her. 

Among the plans on Nellie's bucket list are Disneyland Paris, Center Parcs, a festival, days out with animals and nature, and hopefully they will make it to Lapland in December.

Megan’s good friend Vicki Rawlings, has set up a Go Fund Me page to help raise money for Nellie’s bucket list, you can donate here: https://gofund.me/98c09a4d