Friday, May 24, 2024

Girl with Deadly Inherited Condition Cured with Gene Therapy

Teddi Shaw, a 19-month-old from Northumberland, was born with metachromatic leukodystrophy (MLD), a rare and deadly genetic condition that causes significant damage to the organs and nervous system. Those who have the condition typically die young.

After receiving revolutionary gene therapy, however, she is now disease-free. The miracle drug, Libmeldy, is the world’s most expensive drug with a list price of £2.8 million. However, NHS England was able to reach an agreement with Orchard Therapeutics, the drug manufacturer, who offered the drug to the patient at a significant discount.

teddi shaw
Teddi Shaw has not shown any symptoms of MLD since receiving the revolutionary gene therapy

According to her mother, Teddi is doing “absolutely brilliant” and has been “running and walking and is a chatterbox.” So far, she has shown no signs of MLD.

Amanda Pritchard, the chief executive of NHS England, has stated that the treatment will allow those with the rare condition, such as Teddi, to do things that every young child should be able to do like playing with friends and going to school. They will be able to lead healthy, normal lives. If anything, it’s a huge moment of hope for those born with the genetic disorder.

How Does Libmeldy Work?

Limeldy works by correcting the genetic cause of the condition. It does this by inserting normal copies of the faulty gene into the individual’s stem cells. The stem cells are then fed back into the body through the blood with the new DNA.

libmeldy
Libmeldy is the most expensive drug in the world with a list price of £2.8 million (approximately $3.3 million USD)

Teddi had her stem cells removed last year and the faulty genes were replaced in multiple stages.

The family, however, is still experiencing heartbreak as Teddi’s older sister Nala, who also has MLD, cannot receive the gene therapy as her illness is too far advanced. According to the National Institute for Health and Care Excellence, the drug must be given as an intravenous infusion before irreversible damage is caused to the organs and nervous system.

teddi and sister
Teddi and her older sister, Nala, whose condition is too far advanced to be treated with the new gene therapy

In England, approximately five people are born with the rare and fatal MLD each year. Those who show symptoms before the age of 30 months tend to deteriorate quickly and usually have a life expectancy of 5 to 8 years old. Those whose conditions begin after 30 months old tend to live 10 to 20 years.

Brooke Carter
Brooke Carter
Freelance writer who loves dogs and anything related to Japanese culture.
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