Boris Johnson asked to support adding rare disorder to newborn test

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During the PMQs, MP Caroline Ansell spoke about a young girl who was diagnosed with the rare condition Metachromatic Leukodystrophy (MLD).

The heartbreaking case of a 2-year-old girl was brought to Boris Johnson when he was asked to support the addition of the rare condition she suffers from to heel-stick tests for newborns.

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MPs heard of the plight of Nellie Oakshott, who was diagnosed with infantile metachromatic leukodystrophy (MLD).

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Her parents Megan Gillet, 34, and Tom Oakshott, 37, believe an earlier diagnosis for MLD may have saved their lives and are campaigning for newborn blood spot tests that screen for MLD to be made available for babies in the UK.

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Tom Oakshott and Megan Gillett with Nellie

What did MP Caroline Ansell say?

The Eastbourne MP fought back tears as she told Nellie’s devastating story in the House of Commons during Wednesday’s PMQs.

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Calling Nellie “one of my youngest voters,” she went on to mention how Nellie’s parents, Megan and Tom, support the campaign to include MLD in the newborn blood spot test because “had it been included in the test, Nellie’s condition could have been treated.” .”

Caroline Ansell, MP for Eastbourne and Willingdon

Ms Ansell said: “The family is adjusting to palliative care and planning to make every day count.

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“Will the PM give his support to add MLD to this heel prick test so families can be spared the same heartbreak in the future?”

Prime Minister Boris Johnson said the National Screening Committee had received a request to reconsider the conditions for an MLD test to be administered.

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He said, “I know everyone’s thoughts will be with Nellie and her parents Tom and Megan at a very, very difficult time.”

Who is Nellie Oakshott?

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Nellie Oakshott

Nellie Oakshott hails from Eastbourne and was born in December 2019.

On May 12th of this year she was diagnosed with MLD and given a life expectancy of 5 years.

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Sussex World reported that Nellie’s parents said of her diagnosis: “It is all the more heartbreaking as there is a treatment for MLD if caught early enough, devastating for Nellie that it is not an option as her symptoms have progressed too far.

“We intend to live each and every one of Nellie’s final days to the fullest, creating memories and bringing her absolute joy.

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“Nellie loves life and we will honor that while she is with us and when she is not.”

Nellie’s parents have made a list of things to do with her, such as Disneyland Paris.

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A fundraising page was set up to help the family and has raised over £16,000 to date.

In a post on the site thanking donors, Megan said, “The conversations we’re having right now are heartbreaking and they’re taking all of our strength, but the memories we’re making and the travels that we planned, get through and it all happened because of you. Nellie deserves a life of joy, big and small, and your donations make that possible.”

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Nellie Oakshott

What is MLD?

Metachromatic leukodystrophy (MLD) is a rare inherited disorder caused by the buildup of fats called sulfatides. This destroys the myelin sheath (the protective layer of fat) that surrounds nerves in the central and peripheral nervous systems.

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There are three types of MLD, late infantile MLD, juvenile MLD and adult MLD. Diagnosis depends on the age at which symptoms appear.

Symptoms can vary but may include:

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  • difficulty speaking
  • seizures
  • difficulty walking
  • personality changes
  • behavior and personality changes

Can MLD be cured?

On February 4, 2022, the NHS “made a deal” for a treatment, known by its brand name Libmeldy, to treat metachromatic leukodystrophy by removing the patient’s stem cells and replacing the faulty gene that causes MLD and the treated cells were then re-injected Patient.

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It would prevent the development of the enzyme that leads to a buildup of fats that destroy the protective layers around the child’s nerves.

Professor Simon Jones, Adviser on Inherited Metabolic Disorders in Children at the University of Manchester’s NHS Foundation Trust (MFT), said: “This is extremely welcome news for all families affected by MLD, a progressive, life-limiting disease for which there is no known history approved treatment gave options. While there are several subtypes of the condition, all forms in later stages largely result in children losing their ability to move and speak.”

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However, it is too late for Nellie to use gene therapy to cure her.

For those whose MLD is too advanced, there is no cure, only symptomatic treatment and palliative care.

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