Shilbottle girl Teddi Shaw making 'remarkable' progress after life-saving gene therapy

Two-year-old Teddi Shaw recently revisited Manchester University NHS Foundation Trust (MFT), just over a year on from the procedure where she was given Libmeldy as treatment for the fatal disorder metachromatic leukodystrophy (MLD).

MLD is a genetic disease that causes progressive damage to the affected child’s nervous system, resulting in a severely shortened life expectancy. The revolutionary treatment works by removing the child’s stem cells and replacing the faulty gene that causes MLD before re-injecting the treated cells into the patient.

At the follow up appointment, a selection of toys was laid out for Teddi to interact with, and her reaction was monitored to observe her developmental progress and motor abilities (muscle movement including walking and handling items).

Dr Dipak Ram, Consultant Paediatric Neurologist at Royal Manchester Children’s Hospital, said: “I am extremely reassured by Teddi’s progress since her treatment last year.

"This is Teddi’s second assessment this year, which are of paramount importance as these two years are when Teddi would start to show signs of MLD, therefore assessing her development and overall health levels is crucial.

“As soon as she entered the consultation room, Teddi almost instantly interacted happily with the toys – a fantastic sign of her progression.

"Teddi’s speech development and vocabulary are advanced for her age and she’s walking independently, using her hands to pick up objects and turning pages of books very nicely. There are no concerns regarding her vision or hearing.

"All in all, a completely normal neurological examination and I am reassured that the gene therapy is working well for her so far and she will need ongoing monitoring to ensure this remains the case.”

Teddi’s consultation also involved a blood test, which will monitor her enzyme levels, and she will have an MRI scan to check that her brain continues to develop without features of MLD.

Her mum, Ally, said: “We can see that Teddi is doing well and I’m really pleased that her consultants are happy with her motor skills and physical interactions.

"It’s quite nerve-racking waiting for the results of her further tests because this will confirm if everything is as it should be at the crucial age when signs of MLD would begin to show.

"Teddi will have regular check-ups and we hope that her progress continues to be positive as this will mean that we can be confident that her treatment has worked.”

Teddi and her four-year-old sister Nala were both diagnosed with MLD in April last year, but sadly Nala was not eligible for the treatment as the clinical guidance requires the gene treatment to be administered before the irreversible damage caused by the disease progresses too far.

Despite the heart-breaking circumstances for Nala, Ally remains as positive as possible and wants to continue raising awareness of MLD.

Rebekah Hutton, Metabolic Specialist Nurse at Saint Mary’s Hospital, said: “Being a part of this pioneering treatment has been so rewarding and to see Teddi’s progress is remarkable.”

Libmeldy is available on the NHS as a specialist service, the treatment has a list price of £2.8m and is the second most expensive drug in the world.