Archived Entries from 2016 - 2017

We are back in Milan for Ava's 3.5 year post-transplant assessment. The schedule is less punishing than usual, since now we are past the 3 year mark so some follow-up visits will be less invasive. This time Ava has only had blood tests, EEG, gross motor function and neuropsychometric assessments. No brain scan, lumbar puncture, electric shocks or ear and eye nerve tests, which is quite a reli....

Yesterday ArchAngel hosted a special day for UK MLD families to come together to share their experience, friendship and support. Situated at a lovely country house hotel in Milton Keynes, it was wonderful to see so many brave, beautiful children, their doting siblings and charming, courageous parents. Special thanks to the ArchAngel trustees for giving up their holiday time to organise such a grea....

Today our brave girl Ava had her gall bladder removed. This was a precautionary measure since she had developed polyps, which can prove to be pre-cancerous in some MLD patients. We were not willing to take any risks and decided to err on the side of caution since Ava already has enough to deal with. After an anxious debate about anaesthesia, since certain types have been known to cause disease pro....

With heavy hearts we must share the desperately sad news that Richard's Mum, Ava and Angelina's beloved Grandma, passed away on Saturday night, following a courageous battle against cancer. Sheila was the kindest person imaginable and would do absolutely anything for her family and friends. We will never forget her dedication and selflessness through Ava's transplant, travelling bac....

It's quite remiss of me not to post an update in such a long time, for which I apologise.  For the past few months we have been through a challenging process of trial and error with NHS therapy (the NHS want to convince us that their community therapists are as competent and experienced as those at the specialist neurological rehab unit Ava has attended for 2 years). Ava has struggled wi....

We are now back home after a busy week of testing in Milan. Following numerous blood tests, scans and X-rays, Ava also had a 3 hour neuro-psychometric assessment and a lengthy Gross Motor Function assessment. Although some of the results are not in (including bone marrow and cerebrospinal fluid, which take several months to culture), the doctors are very pleased with Ava's progress. It seems ....

After a nasty cold and a quiet half term recouperating in the country, Ava and I are currently back in Milan. We are here for Ava's 3 year post-transplant review, which seems quite incredible. We are actually a month early (the anniversary is 28th March), however it is helpful for the hospital to have Ava's data included in the application for the Gene Therapy license, so we are happy to....

Happy new year to all of you. December went past in the blink of an eye. It has just occurred to me that I haven't posted anything in ages. As we now have an Instagram account (@archangelmldtrust) it's easy to forget to post on the blog when you are regularly posting pictures. Sorry for those of you who don't follow Instagram. We had a super Christmas in the country and it was ....

Ava returned to school to find that she had a new teaching assistant, Miss Katie, which has hopefully been a positive step forward. Katie has a good attitude and Ava seems to really like her. She doesn't yet know how to physically handle Ava properly, which means that Ava is still too sedentary during the day, however she is keen to learn from Ava's therapists and is trying her best to f....

There is still no sign of our test results from Switzerland, but we are travelling again, this time spending half term in Disneyland Florida! The girls have been desperate to come here for years and we thought now was a good time, especially  considering that Ava's mobility skills could worsen further. Although the trip is an expensive one, the happiness and excitement it has brought is ....

Ava's results in Milan were generally positive. All of the key indicators of the disease - brain MRI, nerve conduction and IQ test - were all stable. As always, this was an immense relief. However her gross motor function has declined again and it would appear that the previous nerve damage is still coming to the surface. So it is imperative to keep Ava moving and weight bearing, even though ....

It's been an interesting week in Switzerland. The clinic is small, with around 20 patients. They are being treat for a variety of conditions, from different types of cancer, to serious infections and neurological disorders. There are several fascinating tests to determine a patient's needs, from live blood analysis to iris scanning. The remedies range from homeopathy and vitamin infusion....

Today was less hectic for Ava. Her first hospital appointment was not until 9.30 and, unlike the previous two days, we were allowed breakfast as there were no scans to fast for. Ava spent several hours completing a neuropsychometric assessment, in which she did really well. We also had a surprise visit from Sonia, the lovely lady who used to run the laundry under the hospital in Milan and who meti....

We are back in Milan for Ava's 30 month post-transplant checks. Yesterday she underwent 18 blood tests, gall bladder scan, thyroid scan, neurological examination and some gross motor function scoring. Today she has had eye, ear and limb nerve tests, brain MRI and liver MRI. All that will remain for the rest of the week are neuropsychometric tests and further gross motor function measures, as ....

I am forever delaying posting updates, in the hope of good news to report. We do have some good news, although not as much as I had hoped. Our trip to Spain was fine, if a little hard work. Ava is having increasing difficultly with her posture, owing to weak core muscles, essentially through not walking enough. So being away from home can present many problems, as she struggles to stabilise hersel....

Excited to be going back to school to see her friends :)

Ava's sister Angelina, ready for Year 7!

We are having a relatively quiet summer. Most of our friends have been away but at least the sun has been shining at home. Angelina has had a amazing week in the country with friends where she learned to waterski and another week getting back to nature on a brilliant 'bushcraft' camp. Ava has enjoyed lots of trips to the parks, galleries and museums. We also managed to get to Northumberl....

Finally, some good news regarding Ava's EHCP... The Local Authority have ruled that Ava will stay at Francis Holland School!!! They have been unable to find a place for her at any other local school (which might have provided better accessibility), so thankfully she will now remain with her friends and have full time 1:1 support from the authority. This is what we have been pushing for since ....

Last weekend we attended first ever conference for MLD in the UK. I was privileged to be invited to the scientific meeting on day 1, attended by some exceptional medical professionals, including metabolic expert Prof. Tim Cox; Brains 4 Brain founder Dr Brian Begley; Head of Laboratories at GOSH Simon Heales; and paediatric neurologist Dr Ming Lim. It was fantastic to hear them share their experien....

The summer term has passed at lightening speed and the last few weeks have been a blur of activity. Angelina ended her time at the junior school on a spectacularly high note, with an amazing performance as young 'Simba' in the Lion King musical; a presentation as Olympic gold gymnast Gabby Douglas; winner of the Enterprise Challenge with her team 'Drink and Ink'; and proud reci....

Around the same time as Ava's transplant, we learned that a lovely family, friends of friends, we're also fighting to save their daughter's life. Margot Martini was just one year old when she was diagnosed with an extremely rare type of Leukaemia. Following a high-profile media campaign and world-wide search to find a suitable stem cell donor, beautiful Margot underwent a transplant....

Yesterday The Lancet published results from the Gene Therapy trial in Milan which Ava took part in. Excellent work Foundazione Telethon and Glaxo Smith Kline, thank you.  [link]

Following 20 successful transplants in Milan, Gene Therapy for MLD is now being considered for European license. This means that, if successful, hospitals everywhere will be able to transplant children as soon as they are diagnosed - providing that their diagnosis comes before the disease is starting to progress. Italy have already been granted their license and we hope the UK license will follow ....

Apologies for the lack of updates, it's been a difficult few weeks. Ava is very well, but unfortunately our battle to keep her at Francis Holland School seems to intensify every day. Ava is doing well in the classroom, however her physical limitations are proving to be extremely problematic. Her teaching assistant is no longer confident to handle her on the stairs, so since her form room is....

Ava enjoying the country air 

Ava is enjoying being back at school after the long Easter break, during which she really missed her friends, most of whom were away. After much deliberation, her teaching assistant Miss Charlotte decided to trial the school wheelchair in the playground, to see if this helps Ava to socialise more at break times, when she usually sits on the bench and watches the others play. I was a little worried....

After a very hectic trip to Milan, we spent the remainder of our Easter holidays battling a nasty virus. Despite feeling terrible and sleeping poorly, Ava still tried her best during her therapy sessions and enjoyed going to the pool every day. Illnesses are always a worry with children, but particularly those affected by neurological disorders, as symptoms can really be exacerbated. Ava has strug....

Yesterday we celebrated the 2 year anniversary of Ava receiving her new DNA. It is an incredible privilege to be able to say that. Despite our daily fears, worries and challenges, the thought of Ava being 2 years further into MLD without Gene Therapy puts everything into perspective. We will be forever grateful for the opportunity of this pioneering treatment and for the precious time we have....

Yesterday Ava started her day with a swallowing evaluation and then underwent general anaesthetic for MRI brain scan, nerve conduction test, bone marrow aspiration and lumbar puncture. Although we don't have the full results, preliminary indications are that the disease is stable! The MRI indicated a slight improvement in the areas responsible for cognitive ability and a slight worsening in t....