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Ellis Story

For almost 6 years Ellis was like most children. He loved the outdoors and couldn’t wait for the next adventure. He ran before he walked, loved athletics, swimming classes and jumping on his trampoline.

In Summer 2022 Ellis began to struggle with his balance and coordination. He fell over more frequently; school noted his concentration had slipped and he was exhausted by lunch time. Ellis told us he often forgot what he had to do in class.

In September 2022 Ellis saw a paediatrician who suspected hypermobility and dyspraxia and referred us to physiotherapy and occupational therapy warning the waiting list was at least 6 months.

By October Ellis was getting worse and we were worried his original diagnosis was not right. Not wanting to wait we took Ellis to A&E. One week and several tests later Ellis was diagnosed with Metachromatic Leukodystrophy (MLD) (ABOUT MLD) , a rare genetic condition that affects the white matter in the brain. It was life limiting and only going to get worse, eventually losing all motor and neurological function. We were faced with the prospect of outliving all our children as there was a 1 in 4 chance his younger sibling had it too.

We were referred to Manchester Children’s hospital, the only centre in the UK that was approved in Spring 2022 to treat MLD with stem cell gene therapy. Ellis was required to pass an eligibility test which included an IQ test and a mobility assessment. The assessment is strict as the trials in Milan showed that children who were too symptomatic did not respond to treatment and it increased the progression of the disease.

With immense relief Ellis passed eligibility and his stem cells were collected and flown to Milan for modification in December 2022. This process takes 6-8 weeks and is a terrifying wait especially as we could see Ellis regressing with his mobility.

Ellis passed his second eligibility test and in January 2023 after a round of chemotherapy had his modified cells transplanted back into his body.

Ellis is absolutely the bravest boy we know. He has managed a smile even on the hardest of days and has charmed everyone he has met along the way with his cheeky personality. Ellis has worked hard with his hospital tutors and counted the days to his music therapy which is the highlight of his week.

So far, the transplant is working. Ellis has been transferred back to the RVI for rehab as he lost his ability to walk unaided between passing eligibility and the stem cells doing their job.

We don’t know what the future holds. Ellis is the 4th child to be treated in the UK for MLD, the first with symptoms. There is a long road ahead, his mobility will not be as it was, but I can’t imagine for a second that will stop Ellis.

As of March 8th we have been transferred back to the RVI, not before ringing the end of treatment bell. Now Ellis has a long process of intensive physio and rehab by the team at the RVI. Its not going to be a quick process but we know Ellis is in the best possible hands.

BIG thank you:

We are eternally grateful to the staff at the RVI who took us seriously and were so quick with their diagnosis.

To the genetics and transplant team at Manchester Children’s Hospital and the very clever people at Orchard Therapeutics who modified Ellis’s cells. You have saved our boy’s life and given him the chance of a future we didn’t think possible back in October 22. MLD - Manchester

Ronald McDonald House who gave us a room in Manchester which meant we were on the hospital grounds.. Ronald Mcdonald House