ArchAngel Blog

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step, unfortunately the assessment of any NBS application in the UK is a very lengthy and challenging process due to outdated bureaucracy (see NBS page).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!

Proud to see Ava and her wonderful teacher Miss Charlotte featured in New Scientist magazine! The article is actually in promotion of Genetic Alliance, a terrific charity who support patient organisations (ArchAngel is a member) and individuals in order to ensure that the needs and preferences of all people affected by genetic, rare and undiagnosed conditions are recognised, underst....

FANTASTIC news just received that the Local Authority and NHS have agreed to jointly fund this amazing 'Innowalk' machine for Ava! Earlier this year Ava outgrew 3 separate pieces of equipment: a standing frame, walking frame and movement trainer. Further to a successful trial of this machine in February, the excellent staff at 'Made for Movement' have been generous enough to lo....

ArchAngel has joined forces with MLD Support UK and The MPS Society to support of the approval of Gene Therapy for MLD for use by NHS England. As part of the formal assessment process conducted by the National Institute for Health & Care Excellence 'NICE', we need to demonstrate the devastating effects of this disease on patients and their families. The survey below will give us vita....

Just before the Covid-19 lockdown Ava's sister Angelina and her cousin Milly organised a 'Mufti Day' in aid of ArchAngel at Angelina's school Downe House. In addition to selling merchandise, they also held a raffle and hosted a movie night. I am delighted to report that we have just received the final total and funds from the bursar - they raised a staggering £2492.46! En....

With the risk of catching coronavirus steadily decreasing, the UK Government yesterday 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 ....

Never a dull moment at Ava's school. Today she met the Head Teachers animals, including a chameleon! Whilst home and online schooling has been a challenge for many, we have been blessed to have an incredible team who have continued to give Ava 1:1 tuition, story time, special visitors and catch-ups with friends. Thank you all for such dedication 💖

Genetic Alliance UK (of which ArchAngel is a member) have created this extremely useful hub of resources and information for anyone with a rare disease during the Covid-19 pandemic. [link]

Happy RE-birthday Ava! Today is the 6th anniversary of Ava receiving her life-changing new DNA. Never have we been more grateful to have this ray of sunshine safe and well. Tomorrow we would have been flying to Milan for Ava's follow-up checks, now postponed due to the Covid-19 crisis. Our thoughts and prayers are with all of the remarkable medics there who not only made Ava's second cha....

We have been in self-imposed isolation as a precautionary measure for Ava since 12th March. We have done twice daily video calls with school and Ava has had over 2 hours of 1:1 lessons every day, which have worked brilliantly. Angelina is home from boarding school and Richard is working from home. So far so good. Today Ava received an official letter from the NHS stating "you are at risk of s....

Whilst we continue to have good press coverage of our NBS campaign, the news is now increasingly dominated by Coronavirus. It is particularly worrying to hear about the huge increase in cases in Italy and the tragically high number of deaths there. Last night I spoke with Ava's neurologist in Milan, as we are due there at the end of the month for Ava's 6 year post-transplant follow-up. U....

Today Nickie Aiken MP brought our Newborn Screening campaign to the attention of Boris Johnson at Prime Minister's Questions! Nickie began by congratulating Boris and his fiance Carrie Symonds on the news that they are expecting a baby, going on to state that we all want the best start in life for our children, including the knowledge that they are healthy. After being told by Nickie tha....

Today is Rare Disease Day and our Newborn Screening campaign has gotten off to a fantastic start. Yesterday it was given very prominent coverage in the Daily Mail. The article above takes the whole of page 4, which is truly excellent given how many other health stories are vying for position. The coverage is also echoed in Daily Mail Online and has already been shared over 300 times. Tha....

Today we launched the Archangel Newborn Screening Review campaign with Nickie Aiken MP. We are calling for urgent review of UK newborn screening policy, which is now badly out of step with advances in medicine and other European and high-income countries. Big changes need to be made if we are to save babies from the MLD and other devastating diseases. Please sign and share our vital petition,....

Ava was super-excited to meet David Rich of Rich Landscapes today. Ava is a big fan of gardening and cookery, as these are things she can enjoy and participate in much more easily than other things which she can no longer physically do. One of the programmes Ava likes to watch is BBC 'Garden Rescue', so when we were talking about desperately needing some help and inspiration for our own ....

Today Ava had a fantastic trial of the 'Innowalk' all-in-one standing/walking machine. Ava walked for 34 minutes and enjoyed every second. We're hoping to get one of these for Ava to use on a daily basis instead of 3 seperate pieces of equipment which she has now outgrown. 

Ava has been enjoying time outdoors helping Daddy tidy up the garden in preparation for spring. She has been so good at supervising branch clearing and log chopping that she has been promoted to Assistant Grounds Keeper 

A very Happy New Year from our family to yours. We're starting 2020 with some great news - after significant resistance, the NHS have finally agreed to fund out of term time therapy for Ava. We are hopeful that this much-needed continuity will give Ava a physical boost and go some way towards preventing further issues with her right hip, which is beginning to dislocate. It has been a lengthy ....

Ava has had another great term at school and ended it with a visit to Santa and switching on the Christmas lights at Chelsea and Westminster Hospital. Merry Christmas everyone!

We were proud to appear on TV in Italy this weekend in support of Fondazione Telethon. This charity funded the ground-breaking Gene Therapy trial which Ava took part in and much more life-saving medical research. A special week of programmes reached 25 million Italian viewers and raised over 45 million Euros! As well as having a lovely weekend in Rome, we also got to catch up with several other ge....

Our shining star is now also a teenager! We had a lovely celebration for Ava's birthday, including a family dinner with a fantastic singer who performed all of Ava's favourite Disney songs. We also had a brilliant fireworks display and floating lanterns. 13 is a big birthday for many, but its even more poignant for us. When Ava was diagnosed we were told she wouldn't make it to teen....

We are super proud of Ava's Dad Richard for running the Royal Parks Half Marathon 2019. Not only did he finish in an impressive 1 hour 36 minutes, beating his previous time, but he has also raised valuable funds for both ArchAngel and the Royal Parks charitable trust. 

We have had a lovely and sunny few days in Milan. All of Ava's test results are stable and it has been great to see so many of the kind doctors and nurses who have become our friends over the years. We are also delighted to have been invited to Rome this December to celebrate the 30th anniversary of Fondazione Telethon, the Italian charity who funded the ground-breaking research for the gene ....

After a lovely summer break, Ava has had a great start to the school year. She has been happy to meet some new class mates and the teachers have been delighted by how much information she has retained over the holidays. Her first day back at therapy was also excellent - not least because friendly dustman Tony was waiting with a huge box of Krispy Kreme donuts for Ava and her school friends! This&n....

ArchAngel is delighted to announce the appointment of Pat Roberts as Director of Newborn Screening Project. It is our ultimate aim to ensure that all UK babies are screened for Metachromatic Leukodystrophy at birth. New treatments such as the Gene Therapy which Ava received can dramatically change the predicted course of this disease but timely intervention is crucial. We intend to make a for....

Ava's school is finally out for summer (Angelina has already been home for 3 weeks!) and we are looking forward to spending some quiet time in the country catching up with family and friends. Unfortunately the NHS are still refusing to fund any therapy for Ava during holidays (an ongoing battle in which we are sadly not alone), so we will be trying our best to keep her moving, including using....

Ava had a wonderful day at Royal Ascot today. She loves horses and was delighted not only to see the racing but to also pick 2 winning horses, chosen by their jockey's pink silks of course! The highlight of the day was seeing Her Majesty The Queen leave, especially as she looked directly at Ava and waved at her. Ava was absolutely thrilled to have seen The Queen at such close range and equall....

Heartfelt thanks to the kind pupils, parents and staff from Francis Holland School, who have so generously gifted Ava this 'off-road' wheelchair. It is an incredibly thoughtful gift and one which is deeply appreciated. It's easy to forget how much one can miss out on when reliant on a wheelchair. This 'Delta' all-terrain buggy from Delichon has already allowed Ava to acces....

Ava was happy to see the Easter Bunny at breakfast today and is looking forward to a day of Easter arts and crafts in the Kids Club.

We haven't had a holiday since October 2016, so have come to the Maldives for a long-overdue break. Travelling with a disabled person is never straightforward, especially when airlines don't pay any attention to the information on your MEDIF form... however we survived the 14 hour journey and are determined to enjoy this beautiful, peaceful place. Ava is struggling with the heat a l....

Ava got the biggest surprise today at school when two of her most treasured friends appeared to celebrate her 5th re-birthday. Luisa and Margarita are super-talented dancers who joined a top ballet boarding school for year 7. They couldn't make Ava's re-birthday party yesterday, but came straight to see her the minute their term ended today. They were armed with gorgeous gifts for A....

Today we are celebrating Ava's 5th 'Re-Birthday' - the anniversary of receiving her new DNA. We can't beleive how quickly the time has flown, or how much life would have changed for us in that time. We are thankful for the second chance of life which gene therapy has given her and for the continued friendship of the lovely girls who took time to celebrate with her, even though ....

Ava's teacher Charlotte and I bought lots of tickets to try and win this gigantic teddy bear for the school on Red Rose Day. We were't lucky. However a few days later it suddenly appeared, it seems the winner didn't want it and decided to donate it to the school! Given how much space it takes up in the classroom, Charlotte isn't sure it was a good idea after all... but of cours....

Today we won a 4-year battle with the Local Authority over Ava's Educational and Health Care Plan (EHCP). The EHCP system is failing badly and many children are being badly short-changed by their LA's. We sincerely hope that today's result is a victory not just for Ava, but for other families who don't have the stamina or resources to defend the rights of their specia....

What better way to celebrate Rare Disease Day than great test results from Milan? All good, with small but important improvements in ear and eye nerves. I also attended the annual Genetic Alliance Rare Disease Day reception at the Houses of Parliament, where it was fantastic to meet yet more inspirational people in the rare disease community and those working tirelessly to improve things for all o....

We're back in Milan for Ava's 5 year post-transplant checks. We're a little early, since the anniversary in 28th March, however the team here have kindly allowed us to travel early to come during half term, meaning that Ava hasn't missed any school and that we will have current test results to present at our EHCP tribunal in early March. Best of all, it also means that Angelina....

Wishing the happiest of birthday's to the happiest of girls. Have a great day my darling, can't tell you how grateful we are to have you here or how much joy and light you bring into our lives.

Ava has spent a lovely day baking with Angelina for a charity bake sale at her boarding school. Happy Halloween!

Ava was thrilled today to receive a parcel of goodies from teaching assistant Miss Katie, who returned to her native New Zealand this summer. As well as an array of delicious looking treats, Katie also sent a $5 note, which features the explorer Sir Edmund Hillary, whom Ava has loved learning about in Geography.

Ava loved meeting Lulu the Cavapoo today, a delightful Pet Therapy dog who will be visiting Ava's new school every Tuesday. Just one of many wonderful initiatives at this very special school, where Ava couldn't be happier.

All good results at Ava's 4.5 year post-transplant checks in Milan. Ava's enzyme levels are great and all other test results are stable, if not slightly improved. As ever, Ava took the onslaught of examinations in her stride with typical cheerfulness and she has enjoyed her week in Milan visiting our usual haunts between appointments.

The worthy recipient of this year's FHS SPARKLE CUP.

Congratulations to Year 6 for a spectacular end of year production of Mary Poppins!

Ava's final Sport's Day of Junior school was a lovely, sunny and happy day. Ava enjoyed cheering on her class mates and they really supported her in the shot put and javelin events, where she won a medal! Well done to everyone :)

There are definitely perks to missing school because your teaching assistant is sick, including the Godiva Cafe at Harrods, yum.

Ava can finally reach the floor in our local pool, hurrah! Ava goes to the pool before school twice every week to do exercises recomended by our Physiotherapist and with the help of excellent swimming instructor Musa at Love Swimming. This excercise provides essential movement and weight-bearing for Ava and she has none of the fear of falling over which she has on land due to her lack of balance. ....

Angelina is off to boarding school! Whilst she is the most fantastic big sister anyone could ask for, its easy to forget how hard it is to be the sibling of someone with a rare disease. Ava's disabilites mean that she requires full-time help and attention and Angelina naturally pitches in constantly and worries a lot about her. When she passed the exam for an outstanding all-girls school in t....

A lovely Easter egg hunt with Angelina and cousins Milly and Grace. Happy Easter everyone!

Today we are celebrating the 4-year anniversary of Ava receiving her life-saving new DNA. Eternally grateful to Dr.Biffi and her team for their dedication to MLD and the 2nd chance of life their work has given Ava. Even more poignant to think that several MLD children we met but who sadly weren't treated have passed away since that day.

Ava's checks in Milan went well. The levels of her new ARSA enzyme are strong and her brain MRI and nerve conduction remain completely stable. Ava's Gross Motor Function is also stable and her IQ score showed an increase of 11 points. Doctors were pleased to see Ava interacting so well and agreed with our sense that her conversation has improved. Another bonus was the fact that I met 2 s....

Heartfelt thanks to everyone who has generously donated to ArchAngel in memory of this adorable, beautiful little girl Paige Scott, who passed away in November last year. We are full of admiration for the Scott family, who have not only shown immense courage and bravery throughout their difficult MLD journey, but also incredible generosity of spirit in thinking of others at their time of devastati....

A long overdue update... Ava is doing well. Her mobility challenges remain the same, however her conversation has increased, including her asking more questions, making more observations and even telling jokes! I think this is in part due to the fact that our school have integrated her with lots of other classes whilst her Year 6 peer group were working hard on their 11+ exams and she has thrived ....