Get Well Soon Ava

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 progression, the procedure was carried out without any issues. Ava is sleepy and a little sore but otherwise recovering well. Get well soon darling girl 💗

Read More


RIP Grandma Sheila

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 back and forth between London and Milan for many months for help care for both Ava and Angelina. We are thankful for the countless happy memories we have of her, but they will never ...

Read More


Summer is here!

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 with new ways of doing things and an overload of neurological input, with sessions being combined instead of spread throughout the week, as previously. We had noticed a dramatic increase ...

Read More


GOOD results

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 that many of the massive fluctuations in her nervous system are finally beginning to stabilise. Some areas are showing improvement, including cognitive ability and her more recent ...

Read More


Milan again

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 oblige. It also means that we are here at the same time as a lovely family from Philadelphia, with Ella (8) and Eli (11) also here for their GT follow-up. The girls are thrilled to have ...

Read More


Happy new year

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 lovely spending time with our family. Santa was very good to the girls, bringing an 'Air Track' professional gymnastics mat for Angelina and a 'swung' (the other person swings you) for Ava. The ...

Read More


Happy 10th Birthday Ava!

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 facilitate better and more frequent movement breaks. We have now also received Ava's customised chairs in school, which are at least giving her much better postural support in the classroom ...

Read More


We’re in the Magic Kingdom!

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 priceless. We have also been incredibly fortunate to have been offered a 'Genie' pass, given to children with serious illness (by American charity Give Kids the World) and which allows ...

Read More


Guten morgen from Switzerland 

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 infusions to Ozone and magnetic therapies. Ava has had lots of tests, many of which won't show results for a few weeks. However we have already established that her system is too acidic and that ...

Read More


Goodbye Milan

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 this is inevitably more difficult for her. Not walking enough brings further complications, of reduced core stability and extremely tight ham strings, which in turn causes muscle ...

Read More


Ciao Sonia!

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 meticulously took care of our endless laundry during our 5 month residence here. Sonia subsequently retired due to ill health, but she is still clearly putting others first, despite ...

Read More


Greetings from Milan

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 well as a meeting with the trial leader Professor Aiuti. Ava is in great spirits and very happy to see some of the lovely team here, including nurses Gigliola and Federica, psycholog...

Read More


Senior school already! 

Ava's sister Angelina, ready for Year 7!

Read More


Back to school

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

Read More


A happy reunion

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 herself on different chairs and there isn't always somewhere to sit where she can feel secure. Her difficulties with balance mean that she has a heightened sensation of falling, so she ...

Read More