MLD: its meaning and symptoms, and what Boris Johnson said at PMQs about adding it to newborn blood spot test

During PMQs MP Caroline Ansell spoke about a young girl diagnosed with the rare condition metachromatic leukodystrophy (MLD)
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The heartbreaking case of a 2-year-old girl was put to Boris Johnson as he was asked to support adding the rare condition she suffers from to heel prick tests for newborns.

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 her life, and are campaigning for newborn bloodspot tests that screen for MLD to become available for babies in the UK.

Tom Oakshott and Megan Gillett with NellieTom Oakshott and Megan Gillett with Nellie
Tom Oakshott and Megan Gillett with Nellie

Conservative MP for Eastbourne, Caroline Ansell, highlighted Nellie’s case and spoke of the campaign during Prime Minister’s Questions.

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 PMQs on Wednesday..

She referred to Nellie as “one of my youngest constituents” and went on to mention how Nellie’s parents, Megan and Tom, are supporting the campaign to see MLD added to the newborn blood spot test, as “had that been included in the test, Nellie’s condition could have been treated.”

Caroline Ansell, MP for Eastbourne and WillingdonCaroline Ansell, MP for Eastbourne and Willingdon
Caroline Ansell, MP for Eastbourne and Willingdon
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Mrs Ansell said: “The family are squaring up to palliative care and planning to make every day count.

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

Prime Minister Boris Johnson said the National Screening Committee has received a request to look again at the conditions of doing an MLD test.

He said: “I know the thoughts of everybody will be with Nellie and her parents Tom and Megan at a very, very difficult time.”

Who is Nellie Oakshott? 

Nellie OakshottNellie Oakshott
Nellie Oakshott
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Nellie Oakshott, from Eastbourne and was born in December 2019.

She was diagnosed with MLD on 12 May this year, and was given a life expectancy of 5 years old.

SussexWorld reported that Nellie’s parents said of her diagnosis, “It is all the more heartbreaking as there is treatment for MLD if caught early enough, devastatingly for Nellie this isn’t an option as her symptoms have progressed too far.

"We intend to live every one of Nellie’s last days to the fullest, creating memories and giving her absolute joy.

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"Nellie loves life and we will honour that whilst she is with us and when she isn’t."

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

A fundraising page was set up to help the family and so far more than £16,000 has been raised.

In a post on the page thanking those who had donated Megan said: “The conversations we are having right now are heartbreaking and they take all our strength but the memories we are making and the trips we have planned are getting us through and that is only happening because of you. Nellie deserves a life filled with great and small joys and your donations mean that is possible.”

Nellie OakshottNellie Oakshott
Nellie Oakshott

What is MLD?

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Metachromatic leukodystrophy (MLD) is a rare hereditary disease caused by the accumulation of fats called sulfatides. This destroys the myelin sheath (the protective fatty layer) surrounding the nerves in the central nervous system and the peripheral nervous system.

There are three types of MLD, late-infantile MLD, juvenile MLD and adult MLD. The diagnosis depends on the age symptoms appear.

Symptoms can vary, but can include:

  • difficulty talking
  • seizures
  • difficulty walking
  • personality changes
  • behaviour and personality changes

Can MLD be cured? 

On 4 February 2022, the NHS “struck 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 causing MLD then re-injecting the treated cells into the patient.

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

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Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at Manchester University NHS Foundation Trust (MFT), said: “This is enormously welcome news for all families affected by MLD, a progressive, life-limiting condition for which there were previously no approved treatment options. While there are various sub-types of the condition, in its later stages, all forms largely result in children losing their ability to move and speak.”

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

For anyone whose MLD is too far progressed, there is no cure, only symptom management and palliative care.

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