Bringing hope to families
in the fight to eradicate MLD

Heel Prick Test MLD Support Association UK

Newborn Screening for MLD Update

By | Research
Heal Prick Test MLD

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 and one which could not have been possible without the important support and ongoing collaboration of many brilliant scientists and heroic clinicians.

Unfortunately this will be a lengthy and challenging process, as the UK NSC is in urgent need of reform. We will continue to work hard for future MLD affected families and to campaign for changes to the system which will bring hope to many other rare diseases where treatments and tests are available. 

Please visit or email for further details.

MLD Support Association UK Christmas Party

Christmas party announcement

By | Families, Support
MLD Support Association UK Captain Fantastic Christmas Party

Great News! We will be holding a virtual Christmas Party on Saturday 11th December 1pm-2pm for our MLD children and their siblings. We will also be distributing Festive Family packages in the lead up to Christmas to UK MLD families. If you would like to register your family, please follow the link to complete the required contact information before 7th November.


Support us with Amazon Smile

By | Fundraising
Amazon Smile MLD Support Association UK

AmazonSmile is a really simple way for you to support MLD Support Association UK every time you shop, at no cost to you.

The way it works is that Amazon donates 0.5% of the price of eligible AmazonSmile purchases to charities, and MLD Support Association UK is now registered with AmazonSmile. There is no catch – it is the same Amazon you know – same products, same price and same service.

So please register with AmazonSmile and help MLD Support Association to continue providing support to families affected by MLD. There are millions of eligible products available – look out for ‘Eligible for’ on the product’s details page.


Christmas party 2021

By | Families, Fundraising, Support

Great News!  We have secured funding from the National Lottery Community Fund to hold a 2021 Christmas Party – Date and time to be confirmed in the near future. The last eighteen months have been tough on everybody, but especially our little ones, siblings, parents and carers and it will be wonderful to get together at this special time of year.

As an organisation we will be monitoring the Covid-19 situation closely, working within the government guidelines and potentially adding a few of our own in order to keep all our VIPs as safe as possible. #NationalLottery,

MLD Gene Therapy update NICE

Update on approval of gene therapy for MLD

By | Research

NICE (National Institute of Clinical Excellence) the drug decision making body have publicly released their interim decision today (9 July 2021) not to recommend OTL-200 (Libmeldy), the treatment for individuals suffering from both, late infantile and early juvenile Metachromatic Leukodystrophy (MLD).

Although NICE have acknowledged the clinical benefit to patients they have given a “NO” decision due to long term uncertainty. This is not NICE’s final decision and the committee is proposing to meet again on the 6 October 2021 following review of the feedback from consultees and members of the public.

Members of the public have until the 30th July 2021 to submit views and feedback to NICE. The evaluation committee will then reconsider the evidence and their decision at the proposed meeting in October.

Download Press Release
MLD Patient Registry

MLD UK registry news

By | Families, Research

Following long 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.

It is extremely important to have a National Database of all known families in order to keep them updated on developments, and to be able to contact them.  We have, therefore, decided to create the National MLD Families Database which will be held by MLD Support Association UK, strictly adhering to GCP guidelines

It will be safe and secure.

When we have more details we will let you all know and post information on how to consent to participate.

MLD Support Association UK COVID-19 Vaccinations

COVID-19 vaccinations for people with MLD

By | Uncategorized

For people with MLD, the British Inherited Metabolic Disease Group (BIMDG), has stated that either of the COVID-19 vaccinations offered is considered safe for all inherited metabolic disorders.  At the moment vaccination is only offered to those 16 and over, and if you have any worries we suggest you contact your Consultant or metabolic unit for clarification.

BIMDG is the professional society for health professionals involved in the diagnosis and management of individuals with inherited metabolic disease, which includes MLD. They have published an information sheet on COVID-19 vaccinations which can be downloaded here

Libmeldy EU approval for treatment of early onset MLD

Treating early onset MLD

By | Families, Research

We are pleased to report Orchard Therapeutics has received EC full (standard) market approval for Libmeldy, an advanced therapy medicine for the treatment of Early-Onset MLD. A decade after the first patient was treated in clinical trials, a one-time treatment with Libmeldy has been shown to preserve motor and cognitive function. Read the full press release

MLD Support Association UK Car Packages

Lottery funding secured for care packages

By | Families, Support
Care packages for MLD sufferers

Exciting news! Funding from the Coronavirus Community Support Fund, distributed by The National Lottery Community Fund, means that MLD Support Association UK are able to offer Covid Care Packages to our UK superheroes. Nominations have to made by a parent or close family members and have to be in by Friday 18th September. The two care packages to choose from will be either aromatherapy or visual and sound sensory. There is just a very short form below to complete.

Thanks to the Government and The National Lottery Community Fund. @TNLCommunityFund  @dcmsgovuk  @TNLComFund and @DCMS #CommunitiesCan.

For further information please contact

Care package application

The Survey to understand the MLD patient and care-giver experience is now live

By | Families, Research

This research is extremely important for us to gather, so we can ensure that regulatory bodies such as NICE and the NHS fully understand the effects of MLD on patients and families ,and that we do our best to secure access to therapies and support future access to Newborn Screening. The survey will be available until 14 September 2020.

The survey should take you no longer than one hour to complete and you are able to stop and return to it later (your answers will be saved for one week). It may be advisable to have any documents to hand before starting that will help you to answer any diagnosis or medical questions to hand.

Rare Disease Research Partners (RDRP) are conducting this survey on behalf of the MPS Society UK, MLD Support Association UK and ArchAngel MLD Trust. If you have any questions, require a paper copy or wish to do the survey over the telephone, please email

Thank you in advance for your support.

Access survey
MLD Support Association UK COVID-19

COVID-19 update on shielding guidance

By | Families, Support

With the risk of catching coronavirus steadily decreasing, the UK Government announced changes to the future of the shielding programme.  From 6 July those shielding will be able to meet outdoors, in groups of up to six people from outside their household, with social distancing:

If you live alone (or are a lone adult with dependent children under 18), you will be able to form a support bubble with another household. From 1 August, many people will no longer need to shield, and the advice will be that you can visit shops and places of worship, but you should continue to maintain social distancing whenever possible. You can find the full guidance on the GOV.UK website.

You should shortly receive a letter from your GP or Specialist Centre advising you of these changes. Please do not hesitate to contact Jackie Imrie if you have any questions about your own level of risk as people are encouraged to spend more time outdoors, and to gradually return to normal activities, school and the workplace.

We understand how challenging it has been for many of our families who have had to shield over the past few months, and we also appreciate how anxious they may be about the changes to the guidance – as well as what this may mean for them. Please keep in mind that we are here to support you should you need any further help explaining the latest shielding guidance over the coming weeks.

Rare Disease Day 2020. MLD Support Association UK

Making a leap for rare diseases

By | All, Fundraising, Research
MLD Support Association UK proudly supporting Rare Disease Day

Metachromatic Leukodystrophy (MLD) is classified as a Rare Disease

There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world, each supported by family, friends and a team of carers that make up the rare disease community.

Each rare disease may only affect a handful of people, but taken together the number of people directly affected is equivalent to the population of the world’s third largest country.

Rare diseases currently affect 3.5% – 5.9% of the worldwide population.

72% of rare diseases are genetic and 70% of those genetic rare diseases start in childhood.

Lack of knowledge about rare diseases by health professionals leads to a delay in diagnosis and, frequently, it is then too late for treatment.

Rare Disease Day raises awareness for the 300 million people living with a rare disease. The Rare Disease Campaign aims to achieve equitable access to diagnosis, treatment, Health and social are and social opportunity for people affected by a rare disease.

Find out more about Rare Disease Day

MLD Support Association UK Family Fun Day 2019

Family Fun Day at Wicksteed Park

By | All, Families, Support

Saturday 7 September dawned mild and partly sunny. It was a perfect day for the first MLD Support Association UK Family Fun Day at Wicksteed Park in Kettering. The day was a great success with rides, the little train, a magician/balloon maker, an amazing face painter and plenty of time for all the families to mingle. A great big THANK YOU to the National Lottery Community Fund for giving us a grant to help pay for the day.

“It was lovely meeting up with other families and siblings.”

Hannah Johnson, parent

“I enjoyed meeting the other families while the children had the chance to have some fun.

Nicola Elson, parent

The grounds were open and the venue was big enough for wheelchairs. Having a changing facility was very helpful. Being able to get a cup of tea/coffee whenever I wanted and having food available for a long time was good as it’s tricky to eat and drink within certain time frames. Also interaction between siblings and parents was great! The staff were very helpful and the venue was central so many people could attend.”

Paula Veysey, parent

“I loved meeting all of the families and getting to know the day-to-day things about each of us.

Tina Maii, parent

The event was really well organised. The kids loved the entertainment and so much thought and effort went into their gifts. Loved the beach theme and it was lovely meeting up with all the other families.

Twila D’Cruz-Parsley, parent

Abseiling the ArclorMittal Orbit

By | All, Fundraising
Abseiling for MLD Support Association UK

Keiren Martin completed his Abseiling challenge from the ArclorMittal Orbit in August 2019.  He regularly takes on challenges for charity, and this time has chosen. It is amazing that he has raised almost £500.

Celebrating National Lottery Community Funding

By | All, Fundraising

We are delighted to announce we have been awarded a National Lottery Community grant of over £4,000 to fund our Family Fun Day at Wicksteed Park in Northamptonshire on 7 September 2019. A big thank you to our Trustee Nicola for securing the grant, which provides us with the means to invite affected children and adults, siblings, mums and dads and grandparents who help care and also carers, where appropriate.

As well as enjoying a great day out, our aim is to bring together people from all walks of life who are affected by MLD to share their experiences and continue building our support network. We will be providing free entry (wristbands) to the Park, and we have a private room for a light lunch for everyone.

If you would like to register your interest in our Family Fun Day, please email 

The National Lottery Community Fund continues to support good causes which improve lives by bringing people together and building strong relationships in and across communities. You can find out more about their work here.

Andrew Hudson Runner

Andrew Hudson learns of MLD sufferer and decides to support our work

By | All, Fundraising

Andrew Hudson recently learnt about a young man suffering from MLD and realised just how few people know about this rare disease and wanted to support our charity to raise awareness, support families and fund research. He will be running his 10th Brighton Marathon in April and thought it would be a good idea to up his game and try and raise a decent amount of money. He wrote on his Just Giving page, “People like me take good health for granted but many people have their health stolen by cruel life changing illnesses like MLD”. Thank you Andrew for choosing to run for us.

A Study of Intrathecal SHP611 in Participants with Late Infantile MLD

By | All, Research

A new Clinical Trial has been announced by Shire (now part of Takeda Pharmaceutical Company Ltd)  for Intrathecal Enzyme Replacement Therapy for children with Late-Infantile MLD. The centre in the UK will, hopefully, be Bristol Royal Hospital for Children. Commencement will not be earlier than late 2019, and they will be recruiting children with a confirmed diagnosis of Late-Infantile MLD, who are either pre-symptomatic or symptomatic, but who have had no previous treatment such as Stem Cell Transplantation or Gene Therapy. Further details will be available later in the year.

Connie and Joe Elson

Children in Need

By | All, Families

BBC’s Children in Need told the story of Joe and Connie Elson, two children who have Metachromatic Leukodystroph (MLD). Connie was diagnosed with MLD when she was just five-years-old. The condition has left her unable to walk or talk. Two weeks after Connie was diagnosed, it was discovered that brother Joe also had MLD. He was able to undergo a clinical trial which has stopped MLD from progressing.

The film telling their story (below) has now reached over 130,000 views. This national exposure has highlighted the disease and we are now submitting an application for 2019 to see if we can get funding for our Family Fun Days.

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