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Scientific and Family
Conference 2023

READ REPORT
 

Bringing hope to families
in the fight to eradicate MLD

 

Promoting Treatment
for Late-Infantile and
Early-Juvenile MLD

 

Activity weekends for MLD families

 

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

The Cartmel family, Metachromatic Leukodystrophy (MLD)

News and Stories

The UK’s most expensive drug saved one sister, but it is too late for the other

On Wednesday 15th February 2023, BBC News ran an Online Article by Medical Editor Fergus Walsh about Teddi Shaw, the first child to be treated by the NHS with the new life-saving gene therapy drug, Libmeldy.

The article also included a short two minute video (above) featuring 19 month old Teddy and his family and a link to the iPlayer documentary – Bittersweet Medicine, which is about ‘A cutting-edge treatment turning a terminal diagnosis into hope for a healthy life’. 

On the same day, our Chairperson Vivienne Clark, was interviewed by Times Radio and Radio Belfast about the Libmeldy treatment and spoke about the critical need for Newborn Screening.

You can listen to the Times Radio Interview from 1:09 onwards.

The Elson family featured on both 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.

Christmas care packages for MLD families

We are once again lucky enough to be able to run the Festive Family Care Packages this year. If you would like to register for a package, please follow this link to complete and submit the registration form. The cut-off for registration is Saturday November 9th, which not very far away, so please do register as soon as possible to avoid disappointment.

Nicola Elson Jackie Imrie MLD Support Association UK

SSIEM (Society for the Study of Inborn Errors of Metabolism) 2024

Scientists, clinicians, specialists and experts from all over the World attend this prestigious event which was held this year in Porto. This years attendance was over 2800 delegates and Nicola and I were able to attend as support group representatives to showcase the work and the collaborations we are involved with Read on…

Boy with MLD

Our weekend away at Bendrigg Trust

On an autumnal September weekend, we packed our woolly jumpers, waterproofs and sense of adventure and headed to Bendrigg Trust. Bendrigg Trust residential activity centre, is situated in an ideal spot in the UK between the Lake District and the Yorkshire Dales. It specialises in delivering high quality activity course for disabled people. They promote inclusion, encourage independence and build self-confidence. Read on…

Neo Natal Screening MLD Metachromatic Leukodystrophy

Orchard Therapeutics Celebrates Neonatal Screening Day

Orchard Therapeutics, recently acquired by Kyowa Kirin with the goal of accelerating the delivery of new gene therapies to patients around the globe, recently announced a number of updates pertaining to the advancement of universal newborn screening (NBS) for metachromatic leukodystrophy (MLD). Read the press release…

Clinical trial update from Takeda

Since the recent announcement that the phase 2 trial with TAK-611 for children with Metachromatic Leukodystrophy has not met any of its primary or secondary objectives, Takeda Pharmaceuticals has been actively engaged in discussions and listening to feedback from investigators, families and the patient advocacy community regarding the programme. Read on…

A momentous day for the MLD community

March 18th 2024, was a momentous day when gene therapy was approved for use in the US. Enormous thanks to everyone who worked so hard to make this happen. Next stop is newborn screening and MLD Support Association UK with Archangel Trust are proud to be working alongside dedicated people around the globe to sound the death knell for this horrific disease. Find out more…

Genomics England Newborn Baby

Genomics England includes MLD on its provisional list

The Generation Study, a project by Genomics England, will see the genomes of 100,000 newborns sequenced to look for a specific set of rare genetic conditions that affect babies and can be acted on. Today, Genomics England have shared the provisional list of conditions that will be included when the study begins. Read on…

Donna The MPS Society

Working with The MPS Society

We are delighted to announce that families affected by MLD will now be able to access the specialist support services and a telephone helpline run by skilled and experienced staff at The MPS Society. Founded 40 years ago in 1982, the UK charity focusses on 25 rare, life limiting genetic conditions including MLD. Read more…

Can you spare some of your time and talent?

MLD Support Association UK is working hard to support families affected by MLD and to provide up-to-date online information to promote awareness of MLD. We also organise Conferences and Fun days, as well as campaigning for Newborn Screening. We need experienced, computer-literate volunteers to help us. Read on…

MLD Support Association UK Snowdrop Symbol of Hope

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

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

Scott Clark adult onset Metachromatic Leukodystrophy (MLD) sufferer

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

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