ArchAngel Blog

We have now partnered with Real Buzz to secure charity places on world-wide marathons and half marathons! Full support is given to runners in their fundrasing efforts. More information can be found at their website [link]

Today is Rare Disease Day. Thinking of our MLD families, who struggle and grieve today and every day. We see you. 

Some excellent coverage in today's press of the first MLD affected child to receive Libmeldy in the UK. Thanks to the incredibly strong Shaw family for sharing their story and raising important awareness of MLD and the need for Newborn Screening.  

The BBC have made an excellent documentary following Teddi Shaw, the first UK patient to receive transformative gene therapy for MLD, 'Libmeldy'. This is the therapy which we, and many dedicated others, fought so hard to get approved in the UK. Hats off to all involved, especially the remarkable teams at Manchester Children's Hospital and Ospedale San Raffaele in Milan and the extra....

Today is INTERNATIONAL NEONATAL SCREENING TODAY. Newborn screening has the power to save or dramatically improve the lives of those with rare diseases, by identifying conditions and allowing for treatment at the earliest opportunity. ArchAngel is proud to be a member of the UK Newborn Screening Collaborative, comprising 14 key rare disease patient organisations, plus Genetic Alliance UK. Collectiv....

The UK NSC Secretariat have confirmed that they will commission an ‘evidence map’ to further examine the case for MLD. We expect a further update from the NSC in 2023. Whilst this is a very positive step, unfortunately the assessment of any NBS application in the UK is a very lengthy and challenging process due to outdated bureaucracy (see NBS page). We hope to continue to work with th....

Today is Rare Disease Day and we are thinking of all the families living with rare disease every single day, especially our MLD warriors. 

We are also delighted to share the England Rare Disease Action Plan which was published by the Department of Health & Social Care today. It contains an important committment to improving newborn screening, in line with the key policy chang....

The life-changing gene therapy which Ava received in Milan in 2014 has been APPROVED for use by the NHS! Today's announcement on the approval of Libmeldy for use by NHS England is a momentous one for future MLD affected families, as well as gene therapies for other conditions. We are beyond grateful to all of the clinicians, scientists and patient advocates who have helped made....

Very happy to report that 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. Unfort....

NICE unfortunately leans towards a ‘NO’ for the treatment of Metachromatic Leukodystrophy (MLD).
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 Leuko....

Further to our recent meeting with Baroness Blackwood, the newborn screening stakeholdler group has been working on reviewing our campaign. Given the huge number of health issues now jostling for priority as we are beginning see some light at the end of the Covid tunnel, we have decided to streamline our campaign into 3 clear key policy changes which would address the problems with the s....

Ava was blown away by a surprise parcel all the way from America today, containing a beautiful blanket handmade by her dear friend Ella. Ella (and her brother Eli) received gene therapy in Milan just before Ava and our families have become firm friends. Ella is currently dedicating all of her spare time to making these unique gifts for friends and people in her community, always thinking of others....

Today we laid to rest my (Georgina) Dad, Ava's Grandad George, on what would have been his 80th birthday. Covid has complicated procedures and limited our options for his funeral, but nevertheless we gave him a send-off that we hope he would be proud of. I met thousands of stars in my life as a television producuer before we had ever heard of MLD, but none of them ever shone as brightly as he....

Today Nickie Aiken MP and I met with Baroness Nicola Blackwood (Chairperson) and Dr. Richard Scott (Clinical Lead for Rare Disease)  from Genomics England, in order to discuss next steps our newborn screening campaign and how we can align with Genomics England in their important work in this area.

The UK has made incredible strides in genomic diagnositics and there is much enthusi....

Another small celebration with just the 4 of us, but a no less importnat one. Today is the 7th anniversary of Ava receiving her new DNA and the day she was given a fighting chance against the monster that is MLD. We are forever grateful to the heroic scientists and medics who have made this possible and for the truly delightful girl we have the pleasure of every single day. 

Beyond sad to report that Ava's Grandfather George has passed away. George suffered from chronic arthritis from his early 20's and a lifetime of medication finally took a toll on his heart and kidneys at the age of 79. Despite this, he was a constant beacon of optimism, positivity, wisdom and humour in our lives, enduring 10 major joint replacements without complaint and never allowing h....

Today is Rare Disease Day when we are thinking of all of the courageous and inspirational families who are living with rare diseases like MLD. At times it's hard to believe the surreal year which has passed since last year's RDD, when we launched the ArchAngel Newborn Screening Review Campaign in conjunction with Nickie Aiken MP.  Whilst Covid has understandably knocked us off ....

We have had a quiet and subdued Christmas and been pretty sad not to see our closest family members. However Covid is still clearly in charge and we are doing our best to protect Ava as someone clincially vulnerable and also to adhere to the neccessary guidlines for the safety of everyone else. We hope that the new year brings more positivity and good health to all. In the meantime, the snow has g....

ArchAngel MLD Trust and Ava's mother Georgina were nominated as 'expert witnesses' and both have just submitted extensive evidence to The National Institute of Health & Care Excellence (NICE) in support of an application to have Gene Therapy for MLD approved for use by NHS England. If approved, this remarkable treatment could offer UK children with a timely diagnosis the same se....

A quiet celebration for Ava's 14th birthday this year thanks to Covid, but we are nevertheless counting our blessings to have Ava still strong and happy against all the odds of MLD. Thanks to Angelina for a fabulous chocolate mousse cake!