Bringing hope to families
in the fight to eradicate MLD

 
 
 
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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 Monday 21st 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 vivienne@mldsupportuk.org.uk

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 info@rd-rp.com

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.

MLD Patient Registry

The MLD Registry is live

By | Research

A pathway to new research and possible treatments


We are delighted to announce the launch of the MLD Patient Registry. Thanks to the work of our trustees Jackie and Vivienne, we now have a process and technology in place to
collect and store patient medical information, family history and other related information in a safe anonymised way for use in clinical research.

The purpose of the MLD registry is to collect and store clinical and other information from individuals with the same or related disease in the UK to get a better understanding as to how affected individuals progress.

Patient information in this registry will be used to create a natural history of MLD types for clinical research and experimental clinical trials to better understand rare diseases and to develop new treatments. Researchers studying MLD need accurate information to understand how the disease affects people.

In addition, researchers may access the MLD registry to locate people who may be eligible to participate in particular studies, such as studies to test new treatments. All requests for research will be carefully vetted and only anonymised data released.

Find out more about the MLD Patient Registry MLD registry

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
 
 
 
 
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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 admin@mldsupportuk.org.uk 

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.

Dr Christine I Dali, MLD Support Association UK family conference

Family Conference

By | All, Families, Research
Dr Germaine Pierre – Paediatric consultant at University Hospitals, Bristol

The second MLD Support Association UK Family Conference was held at Wyboston Lakes in St. Neots on Saturday 9 June 2018. The focus this year was on Support and Care of MLD sufferers and their families, and enabled families directly affected by MLD to meet and share valuable information.  There were presentations on support and care, as well as an update on research, followed by family discussions, and networking sessions. A crèche for children and affected adults was again provided.  Dinner on Saturday evening was followed by free time for families to mix.

Speakers included Professor Timothy Cox, Emeritus Professor of Medicine, University of Cambridge, and also our Patron, and Dr. Anupam Chakrapani, Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital chaired the Conference.  Also attending was Dr David Begley, from Kings College and the Brains for Brain Foundation.  Other experts in the field of MLD/Leukodystrophies and those caring for sufferers and supporting families also gave presentations.

Scientific Conference

By | All, Research

On Friday 8 June 2018, we held our second Scientific Conference at Wyboston Lakes in St. Neots. We had over 25 scientists and clinicians in attendance, with and Dr. Anupam Chakrapani, Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital chairing the Conference. The Conference offers a unique opportunity for clinicians and scientists for various disciplines to meet up, both formally and informally, and hear about current research and new treatments. Speakers included Dr David Begley, from Kings College and the Brains for Brain Foundation, Dr Robin Lackman who talked about Leukodstropies in Adults, Dr Christine I Dali MD, paediatric specialist involved in Clinical trials in Denmark for Enzyme Replacement Therapy, Professor Timothy Cox, Emeritus Professor of Medicine, University of Cambridge, and many other experts in the field of MLD/Leukodystrophies, as well as those caring for sufferers and supporting families. For more details and conference notes.

Our next Conference is in 2020. If you are a health professional and would like to attend this Conference, please contact us at admin@mldsupportuk.org.uk.

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