Bringing hope to families
in the fight to eradicate MLD

 

Hosting Conferences
and Seminars

 

Promoting Treatment
for Late-Infantile and
Early-Juvenile MLD

 

Fundraising, Volunteering
and Family Fun Days

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What is MLD (Metachromatic Leukodystrophy)?

MLD is an acronym for Metachromatic Leukodystrophy. MLD is an autosomal recessive genetic disorder and is directly caused by a deficiency of the enzyme Arylsulfatase-A. Without this enzyme sulfatides build up, eventually destroying the myelin sheath of the nervous system. The myelin sheath is a fatty covering that protects nerve fibres. Without it, the nerves in the brain and the peripheral nerves cease to function properly. At the moment the only treatment approved by the NHS is Gene Therapy, but this is not available for all forms of MLD.

The types of MLD

Family advice and support

MLD Support Association UK was set up by two families who have a child with Metachromatic Leukodystrophy. We understand how life-shattering the diagnosis can be, and how alone you are feeling. We are here to help to offer advice and help.
Never suffer alone

Research and clinical information

MLD is a rare disease and many health professionals know little about the symptoms and outcomes. MLD Support Association UK is committed to providing information to help with an early diagnosis and to provide details of on-going care or treatment options.
Information for healthcare professionals

Fundraising and Volunteering

We urgently need donations so that we can continue to support families and help to find a cure for all types of MLD. If you have been affected by MLD or know a family that has and would like to make a donation, volunteer or fundraise for us, then we can point you in the right direction.
Support our work

Where our charitable work is most needed

MLD (Metachromatic Leukodystrophy) is a rare genetic condition, but when it strikes it brings devastation to the entire family. Our primary aim is to provide support to families, personally, through our Website and Facebook group and at annual Family Conferences and Fun Days. As MLD is a rare disease, many health professionals know very little about the symptoms and outcomes.

We are committed to providing information to ensure a correct and early diagnosis and also to provide current details of on-going care or treatment options. MLD Support Association UK also organises and sponsors a bi-annual Scientific Conference where scientists and clinicians who specialise in Leukodystrophies, both from the UK and overseas, can meet up to learn about current treatments and research.
Read our family case studies

News and Stories

The Elson family featured on BBC and ITV News

On Friday 4th February, it was announced across the media, that Atidarsagene autotemcel (Libmeldy©) had been recommended as an option for treating Metachromatic Leukodystrophy (MLD) in England and Wales for eligible children. To highlight the life-changing impact of this treatment, MLD Support Association UK Trustee, Nicola Elson, was featured on both BBC and ITV News with her children, Connie and Joe, explaining what this means for her family.

As well as Nicola, our Chair Vivienne Clark, was interviewed by Sky News and asked what this announcement means for all families impacted by MLD.

Thank you to BBC and ITV News for allowing us to feature the above videos on our website. For further details on this treatment, please read our Press Release.

Rare Disease Day

Monday 28th February is Rare Disease Day, when individuals, families, caregivers, healthcare professionals, researchers, clinicians, policy makers, industry representatives and the general public, can participate in raising awareness and take action for a vulnerable population who require immediate and urgent attention. For ideas and Inspiration visit rarediseaseday.org

News of a gene therapy study for children born with late Juvenile MLD

Following the wonderful news earlier this month that Gene Therapy was approved for use in England, a clinical study for sufferers of pre-symptomatic and early-symptomatic sufferers of Late Juvenile MLD is now recruiting. Read more

NICE final draft guidance approves life changing gene therapy

We are absolutely delighted to announce that Atidarsagene autotemcel (Libmeldy©) has been recommended as an option for treating metachromatic leukodystrophy MLD Read the Press Release

Announcing Family Fun Day 2022

Thanks to National Lottery funding, we are delighted to announce the MLD Support Association UK Funday will take place on Sunday 10th April at Drayton Manor in Tamworth, Staffordshire. The event is open to all UK MLD families, please register by Friday 18th February Read more

Newborn Screening for MLD Update

A formal application to add Metachromatic Leukodystrophy to the UK Newborn Bloodspot (NBS) programme has now been made to the National Screening Committee (NSC). This is an important milestone for the MLD community… Read more

MLD Registry news

Following discussions around the current worldwide status of Registries for MLD and because of the unforeseen delays in getting the UK registry up and running, it has been decided to change our plans. We have decided to create the National MLD Families Database which will be held by MLD Support Association UK, strictly adhering to GCP guidelines. Read on

Symbol of hope

We have adopted a snowdrop as our emblem because it is a symbol of hope that signals the end of winter and the start of spring. Secondly, the whiteness of the flower reminds us of the brain and central nervous system’s white matter which, as a result of MLD, becomes stained and degenerates. The literal translation of MLD means (meta) change, (chromatic) colour, (leuko) white matter and (dystrophy) degeneration. About us

The D’Cruz-Parsley Family

Millie D’Cruz Parsley celebrated her birthday in April 2010 as a normal, healthy six-year-old child. Within a couple of months, her inability to keep pace with her peers, alongside some issues with her balance, had been noticed, and her condition was eventually diagnosed as MLD (Juvenile onset). Millie’s mum, Twila, wanted to reach out and help other families with MLD, so in 2012 she donated funds to start the MLD Support Association UK. Millie’s story

The miracle of Scott

Scott was born on 5 April 1972. He was healthy and happy and progressed easily through school. He was fiercely academic and at 18 he gained a place in a top UK university. Sadly, Adult-Onset MLD struck and by the age of 22 he was given a terminal diagnosis. Scott’s mother discovered that Bone Marrow Transplants were being carried out in the USA and in March 1996 Scott had a Bone Marrow Transplant with his brother, Russell, as donor. The BMT was a success and today he is the longest survivor of MLD in the UK and still remains stable. Scott’s story

We need your support

We urgently need donations so that we can continue to support families, provide information for health professionals and fund research to help find a cure for MLD. Cheques should be made payable to ‘MLD Support Association UK’ and sent to the office address in Whitstable displayed at the bottom of this page.

Alternatively, you can make a donation through JustGiving. Click on the purple button and please do remember to ‘Gift Aid it’ if you are a UK tax payer. This means we can reclaim an extra 25% in tax at no extra cost to you.

Support us with Amazon Smile

Amazon donates 0.5% of the price of eligible AmazonSmile purchases to charitable organisations, and MLD Support Association UK is registered with AmazonSmile. There is no catch – it is the same Amazon you know – same products, same price and same service.

Please register with AmazonSmile and help MLD Support Association to continue providing support to families affected by MLD. Sign up to AmazonSmile