NBS news
Mon Aug 12 2019
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....
Ready for summer
Wed Jul 24 2019
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....
A day to remember
Mon Aug 12 2019
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....
A brilliant gift
Mon Aug 12 2019
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....
Happy Easter!
Mon Aug 12 2019
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.
Hurrah for holidays
Wed Apr 17 2019
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....
Special visitors
Mon Aug 12 2019
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....
Happy 5th Re-Birthday Ava!
Mon Aug 12 2019
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 ....
A new classmate
Mon Aug 12 2019
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....
Justice served
Thu Mar 7 2019
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....
Rare Disease Day 2019
Mon Aug 12 2019
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....
5 year checks in Milan
Mon Aug 12 2019
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....
Happy 12th Birthday Ava!
Sat Nov 24 2018
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.
Baking day
Sun Oct 28 2018
Ava has spent a lovely day baking with Angelina for a charity bake sale at her boarding school. Happy Halloween!
Special Delivery from NZ
Mon Aug 12 2019
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.
Meet Lulu
Mon Aug 12 2019
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.
4.5 year checks in Milan
Mon Aug 12 2019
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.
Sparkling, as always
Mon Aug 12 2019
The worthy recipient of this year's FHS SPARKLE CUP.
Feed the birds...
Mon Aug 12 2019
Congratulations to Year 6 for a spectacular end of year production of Mary Poppins!
Sports Day 2018
Wed Jun 6 2018
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 :)
Anyone for cake?
Tue May 1 2018
There are definitely perks to missing school because your teaching assistant is sick, including the Godiva Cafe at Harrods, yum.
Loving swimming at 'Love Swimming'
Mon Apr 23 2018
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. ....
A new adventure for Angelina
Mon Aug 12 2019
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....
Happy Easter!
Sun Apr 1 2018
A lovely Easter egg hunt with Angelina and cousins Milly and Grace. Happy Easter everyone!
Happy 4th Re-birthday Ava!
Wed Mar 28 2018
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.
4 year post-transplant checks
Mon Mar 26 2018
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....
Thank you
Sun Mar 25 2018
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....
Milan again, already!
Mon Mar 12 2018
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 ....
Check-up time in Milan
Wed Sep 20 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....
ArchAngel Family Day
Fri Aug 18 2017
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....
Get Well Soon Ava
Wed Jul 26 2017
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....
RIP Grandma Sheila
Tue Jul 25 2017
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....
Summer is here!
Tue Jul 11 2017
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....
GOOD results
Mon Feb 27 2017
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 ....
Milan again
Tue Feb 21 2017
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
Mon Jan 23 2017
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 ....
Happy 10th Birthday Ava!
Sun Nov 27 2016
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....
We're in the Magic Kingdom!
Fri Oct 28 2016
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 ....
Goodbye Milan
Thu Oct 6 2016
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 ....
Guten morgen from Switzerland
Thu Oct 6 2016
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....
Ciao Sonia!
Wed Sep 28 2016
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....
Greetings from Milan
Tue Sep 27 2016
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 ....
A happy reunion
Mon Sep 12 2016
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....
Wedding Belles
Wed Aug 24 2016
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....
The wait is over
Fri Aug 5 2016
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 ....
Two Peas in a Pod
Fri Aug 5 2016
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....
School's out
Wed Jul 13 2016
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....
You could save a life
Tue Jun 14 2016
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....
Gene Therapy News
Fri Jun 10 2016
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]
Exciting news
Wed Jun 8 2016
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 ....
A magical encounter
Mon Jun 6 2016
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....
Place your bets!
Tue Apr 26 2016
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....
Back to school...
Thu Apr 14 2016
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....
2 years + 1 day!
Tue Mar 29 2016
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....
1 year + 363 days post transplant
Sat Mar 26 2016
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....
1 year + 361 days post-transplant
Thu Mar 24 2016
Another busy couple of days at the hospital. We have had 2 further neurology assessments; more neuro psychometric assessment; heart, abdomen, liver and thyroid scans; eye test; and a consultation with a dietician. This last appointment has rather perplexed me. Although Ava has grown 4cm since our last follow-up in September, the doctors are concerned that she has not put on the proportional amount....
1 year + 359 days post-transplant
Tue Mar 22 2016
We are fast approaching the 2 year anniversary of Ava's transplant and back in Milan for a very thorough assessment. So far Ava has completed 17 blood tests, spinal x-Ray, visual and auditory nerve response tests, brainwave monitoring, gross motor function assessment and neuropsychological assessment. And we are only on day 2 of 5... No results yet, although I was happy to see Ava fly through....
Milan here we come!
Sun Mar 20 2016
Today Ava and I flew back to Milan for her 2 year post-transplant assessment. Although people keep telling me they can't believe that two whole years have passed already, for me it often feels like longer, as Ava has changed so much since Gene Therapy, for better and for worse. She can no longer walk independently and some days it seems that her motor skills are undergoing even further declin....
Finally in 'the system'
Mon Feb 29 2016
Ava is still unable to wear her AFO's unfortunately, but nevertheless we have had a positive couple of weeks. We haven't seen the Physio guru Margaret Mayston in a few months, but last week we were fortunate enough to have her work with Ava for a whole hour. Margaret really challenged Ava to support herself, not only making her stand for quite some time with just a hand on the wall for s....
Hooray for half-term
Wed Feb 17 2016
It seems like the first half of the spring term has passed in the blink of an eye. Ava is well, although she only managed 3 days with her AFOs before blisters got the better of her and they had to be sent back for adjustment. We are hoping to collect them later this week. We have been quite preoccupied with Angelina's 11+ exams over the past few weeks, but I'm happy to say that she been ....
Ava has super-legs!
Wed Jan 27 2016
This morning Ava collected her AFO's - aka Super-Legs! They are lightweight and very neat, a vast improvement on the cumbersome, ill-fitting NHS offering. Although Ava needs to break them for a few hours a day and we will not likely see their full benefit for a while, they immediately enabled her feet to clear the ground when walking (as opposed to her dragging her toes), which is a very posi....
1 year + 302 days post-transplant
Sun Jan 24 2016
The last few weeks have been dominated by Angelina's 11+ exams, which are now thankfully over. Ava's hip X-Ray revealed no cause for concern and we are assuming that she had either knocked herself, or been holding herself awkwardly. She is no longer in pain or walking on the side of her foot, so this issue seems to have resolved itself. It's possible that Ava hurt herself on the loo....
Happy New Year!
Fri Jan 8 2016
Two days after Santa came to our island on a jet-ski, we returned to London to find that he had also been to Warwick Square and left lots of goodies. Ava was thrilled to find an American Girl Doll baby and Angelina a laptop. We were also all blessed with horrendous jet lag (a 4am start for 8 days), but I can honestly say that our wonderful holiday was still worth it. We were lucky to have a week t....
Merry Christmas!
Sat Dec 26 2015
Merry Christmas from the Maldives!
Love and peace to all our family, friends and supporters xxx
Sun, sea & sugar...
Wed Dec 23 2015
We are having a wonderful time in the Maldives, where the sun continues to shine despite a poor forecast and where Christmas is becoming ever more apparent. Angelina is flying around the island on her bike and fearlessly trying a variety of water sports including scuba diving and paragliding. Ava is thoroughly enjoying kids club, especially the arts and crafts and baking. She is also keeping up wi....
Hello from paradise
Thu Dec 17 2015
We have finally made it to the Maldives, having decided to treat ourselves to a long overdue break. None of us slept on the 14 hour journey, but it's hard not to relax now we are here. Our island is incredibly quiet (although I'm sure that will all change by the weekend with the influx for Christmas) and we are surrounded by white sand and turquoise ocean. Despite the weather forecast lo....
School's out!
Wed Dec 16 2015
Our last few weeks of term have been crazy, with 2 school concerts, 2 trips to the theatre, 2 early Christmas lunches and several house guests. One of Ava's highlights was a class activity making gingerbread houses, thanks to Julie, mum of her lovely friend Ruby. We have ended the term on a very positive note and Ava has been extremely happy with her temporary teaching assistant, Miss Charlot....
Big shout out to Eloise Burkey!
Wed Dec 16 2015
At Archangel we are grateful to have such loyal followers and are always very touched by any fundraising efforts. However when we heard from Eloise Burkey, we were literally left speechless! Eloise is Angelina's best friend and her family have been amongst our most ardent and generous followers from day one. Eloise is still thinking about ways to help us and so, during her school holidays, sh....
Christmas is coming!
Tue Dec 1 2015
Ava had a super birthday week, with dinner at her favourite restaurant in Harvey Nichols and a fun day of 'black friday' shopping on our school inset day. She was particularly thrilled to get a pair of sparkly 'Lelli Kelly' boots, which I always say no to (on the grounds that they usually have the brand name emblazoned across them), but this year they were actually the only boo....
Happy Birthday Ava! (24th)
Wed Nov 25 2015
Happy 9th Birthday to our beautiful, special girl. Despite the challenges which life throws at you on a daily basis, you are always smiling. Despite how tough things can be for all of us with MLD in our lives, you never stop making us smile. We celebrate your existence today and every day.
1 year + 239 days
Sun Nov 22 2015
Thankfully we have had a much better week this week. Ava has been very happy at school with her temporary teaching assistant, Charlotte, who is extremely calm and gentle. Because Charlotte is experienced in manual handling of children with mobility issues, she has been able to take Ava to some lessons which she has been missing out on this term because of their location. These include science and ....
1 year + 232 days
Sun Nov 15 2015
This past week has been particularly challenging. Ava's school assistant injured her back, as a result of which our school, concerned for Ava's safety, decided that Ava would be best off staying at home until the TA returned. We were all most upset by this, as being in school and around her friends gives Ava a huge amount of motivation and is a vital part of her recovery. Thankfully our....
1 year + 224 days
Sat Nov 7 2015
Another crazily busy couple of weeks have flown by. We had a good half term week, when it was wonderful to have Grandma Angie to stay. Ava also had a daily swimming session with Musa which she thoroughly enjoyed, in particular trying out a 'subskate' surfboard. This week Ava has been quite tired and unfortunately had a fall at school and badly bruised her chin on the ground. However, a m....
1 year + 211 days
Sun Oct 25 2015
Ava has had a good week, with three positive days at school before our half term began on Thursday. She had been doing very well in her lessons and even did the same work as the rest of her class in maths, which is quite an achievement considering how difficult number processing has been post-chemo and how far behind she has been. I have also noticed in the last couple of weeks that Ava has been a....
1 year + 204 days
Sun Oct 18 2015
Ava has made a very enthusiastic return to school following our trip to Milan. Dr Biffi has always maintained that being amongst her peers and being mentally challenged to keep up is one of the best things to aid Ava's recovery. We have certainly seen evidence of this over the past 2 weeks, when her very upbeat mood has been noticed by many and her teaching assistant has made several comment....
1 year + 188 days
Fri Oct 2 2015
Another nil by mouth start, this time for a swallow function test. The ability to swallow is one of the things that can be affected by MLD and since Ava has started to cough when she is drinking, I wanted to check whether this was the first sign of some degeneration in this area. Ava was very brave as the camera was inserted into her nose, in order to look down her throat. She then swallowed both ....
1 year + 187 days
Thu Oct 1 2015
We began today nil by mouth for an ultrasound scan of Ava's gall bladder. After a late breakfast Ava did another small part of the neuropsychometric assessment which had been missed yesterday. Because it was so brief I was allowed in the room and observed a test which involved identifying very complex shapes against the clock. Given Ava's slow processing speed, I was surprised to see her....
1 year + 186 days
Wed Sep 30 2015
A very interesting day today. This morning I had a meeting with a very experienced neurologist, who helped me understand a little bit more about the make-up of the nervous system and why we are seeing very noticeable effects of the disease in Ava, despite the appearance of disease stability in all of the biochemical tests. She explained that the Central Nervous System is made up of isolated areas ....
1 year + 185 days
Tue Sep 29 2015
Today was relatively relaxed, with only a 2-part neuropsychometric assessment from 10.30-12 and 3-5pm. In between we managed a visit to the toy shop under the hospital and to have lunch in our hotel at a reasonable time. Ava managed well with her walking frame this morning, although the walk from hotel to hospital took her around 30 minutes (5 if you are able). It was a reminder of how hard things....
1 year + 184 days
Mon Sep 28 2015
Last night we flew back to Milan for Ava's 18 month post-transplant checks. We started our day at the hospital at 8.30am today with height, weight and blood pressure checks, followed by ECG and a multitude of blood tests. It was lovely to see an array of friendly faces, including translator Samir, nurses Gigliola, Silvia, Alda and Morena, psychologist Francesca and doctor Laura. Next was a ge....
1 year + 179 days
Wed Sep 23 2015
Ava has had a good start to the new term and is getting on well with her new teaching assistant. Her brain is certainly being stimulated by the other children and she seems well engaged and more chatty. She has a walking frame to help her cross the playground and crucially this is keeping her active. It also allowed her to take part in a trip to the Florence Nightingale Museum last week, which she....
1 year + 158 days
Wed Sep 2 2015
Ava has had a much better week and done some great work in her therapy sessions. Although she is still struggling to put weight over her feet and regain her normal walking pattern, her sitting to standing is much steadier. On Sunday we also had a fantastically uplifting moment when she stood up and walked a dozen steps completely independently. This is something which she hasn't done in month....
1 year + 151 days
Wed Aug 26 2015
A mixed week last week. Ava had a couple of off days mid-week where she struggled with her therapy and seemed to find it very hard to concentrate or be motivated. She has been sad without Angelina around, which may have had a lot to do with it. Thankfully she seemed over this by Thursday, when she began working hard again. The therapists have started noticing an improvement in the quality of Ava&#....
1 year + 142 days
Mon Aug 17 2015
Ava's therapy is going well, although some days when she is practicing her walking I have noticed a real tendency to lean on to the person who is holding her hand. This is partly due to the lack of proprioceptive feedback her body receives, as in general her nervous system is under-responsive, but also out of a desire to feel safe and, crucially, because it is easier. However in order for he....
1 year + 134 days
Sun Aug 9 2015
Ava has worked hard at her therapy this last week and managed to stand independently for over 4 minutes! I'm not sure how far we got with the orthotist though. He suggested a rigid ankle-foot orthotic ('AFO'), whereas the Portland therapists have suggested a hinged AFO. The hinge sounds logical, because Ava has terrible tightness in her ankles and also needs to be able to bend her k....
1 year + 126 days
Sat Aug 1 2015
Ava has been working incredibly hard at her therapy and yesterday surprised herself by getting to the top of the climbing wall in the SI (Sensory Integration) room. Whilst still being very unsteady on her feet, she is now managing to stand independently for longer (5 seconds has increased to a full minute) and her upper body strength has definitely increased. It will be a long and uncertain road t....
1 year + 116 days
Wed Jul 22 2015
I'm really not sure where the time has gone these past few weeks. The end of term was upon us before we knew it. Ava has had a tough year, having lost some of her mobility, but we are ever thankful for the fact that she has still been able to attend school every day and be with her friends. This has been crucial to her motivation and morale and it has had a really positive effect on her. It i....
1 year + 100 days
Mon Jul 6 2015
Just when we thought life couldn't get any busier, we have had an unbelievably hectic few weeks.
Firstly, I have been reviewing Ava's therapy provision. As her recent tests in Milan indicated disease stability, we have been puzzled by her increasing struggles with mobility. Ava's balance has deteriorated further and she is currently unable to stand independently for more than a few....
1 year + 82 days
Thu Jun 18 2015
We have been sad this week to say goodbye to Ava's key occupational therapist at Maximum Potential, Chrysa Kotsampoxaki. Chrysa has treat Ava for 2 years, before and after Gene Therapy, and been an incredible source of knowledge and support. Ava always had great fun in her sessions and she has helped keep Ava motivated with her lovely calm and positive approach. We will all miss her a great d....
Nurse Federica is here!
Mon Jun 15 2015
We have had a fantastic weekend with nurse Federica, who is visiting us in London for a few days. Federica was a shining star during our time in the isolation unit in Milan, where her brilliant sense of humour and genuine caring helped to make a very stressful experience easier for all of us. She always got Ava laughing and made her day on several occasions by leaving secret presents on the end of....
1 year + 73 days
Tue Jun 9 2015
Still no news on the school issue and we had a difficult week where Ava seemed to have lost her motivation for exercise. This is possibly because she doesn't see any major improvement despite her efforts, and possibly because our school Sports Day was looming, keenly reminding her of her limitations. When the day itself arrived, Ava geared herself up to be an enthusiastic spectator and suppor....
A Very Sweet Story
Sun Jun 7 2015
I was reminded yesterday that it is one year since we held our first ArchAngel fundraising event, a dinner and auction in London. It was a phenomenal success, raising over £100,000, which has gone directly into research for a MLD and to provided much needed care and support to families with MLD affected children. Whilst we are working on ideas for our next big fundraising event, it is very hearte....
One year ago...
Sun Jun 7 2015
It's hard to believe that a whole year has passed since the ArchAngel fundraising dinner! Here is the blog entry from 6 June 2014:
"I am delighted to report that last nights ArchAngel dinner and auction in London were a phenomenal success. The auction alone raised a staggering £71,000!!! That figure does not include other donations made on the night, plus profit from ticket sales, whic....
1 year + 64 days
Sun May 31 2015
We have had a very hectic half term since Easter and a welcome break last week. We continued with our usual therapy routine but it was great to have a more relaxed schedule and to enjoy some sunshine. Ava worked super hard on her exercises and loved getting bright pink kinesiology tape on her shoulders from Mel the physiotherapist at Chelsea & Westminster hospital. She also really enjoyed a qu....
1 year + 51 days
Mon May 18 2015
I have managed to permanently change 2 of Ava's OT appointments to early slots, allowing her to be at school from 10am-3.30pm every Monday and Friday. She is very happy with the change of routine, as am I, and certainly seems to be concentrating better. We are also trying a little experiment with Kinesiology tape, which aims to give Ava increased postural support. Interestingly we, ....
1 year +38 days
Tue May 5 2015
Ava has been very well this last week and it would seem that any signs of illness have passed. Angelina has stayed well also, which was a big relief as I have been a little slower to recover. Ava and I both welcomed a change to our usual routine last week, as we experimented with early morning OT sessions to see if this had a beneficial impact on Ava's concentration and focus at school. Inste....
1 year + 30 days
Mon Apr 27 2015
I'm happy to say that Ava is feeling great and back to school this morning. She was discharged from hospital on Saturday and I was most relieved to see her bounce back pretty quickly. Despite recent news of her disease stability, there is always a worry with MLD kids that any stress on the nervous system, including a virus, can cause some disease progression. Richard and I have both been ill ....
1 year + 27 days
Fri Apr 24 2015
Just when we thought we were free of hospitals for a while, Ava and I are being treat to a night in Chelsea & Westminster hospital. This is mainly as a precautionary measure, to check her blood levels and re-hydrate her, as Ava has had a few unusual stomach issues over the last 2 days. My natural reaction is that she has picked up something nasty in Marrakech, especially as I have actually fel....
1 year + 22 days
Sun Apr 19 2015
We have survived our trip to Morocco without illness or incident. I must admit to a moment of panic when we crossed a filthy, smoke-filled Casablanca airport, a far cry from the pristine sterility of Dubai. However once in Marrakech, we couldn't fault the standards at our hotel and I reminded myself that Dr Biffi had said "no restrictions" when she checked Ava's immune system last month.....
Happy Birthday Grandad George!
Sun Apr 19 2015
Sending birthday wishes from Marrakech to Northumberland to an awesome Dad & Grandad. Ava and I have both inherited a good deal of strength, courage and determination from my father, a life-long sufferer of chronic arthritis, who refuses to be beaten or brought down by his disease. You are an inspiration to us all and never far from our thoughts no matter where we are. Many happy returns, we l....
1 year + 18 days
Wed Apr 15 2015
Not the best of weeks last week. On a positive note, we did manage a few swimming lessons and some afternoon tea with an old friend of mine, Michelle, and her delightful twin daughters Ava and Amelia (above). I haven't seen them since they were 3 months old, but the family have been following Ava's blog and sending such lovely messages of support, so it was wonderful to finally meet up. ....
Happy Easter
Sun Apr 5 2015
A mixed week for Ava post-Milan. Having missed her daily OT for a week whilst away, she was quite reactive to her sessions once they resumed. This meant some hyper-sensitivity and difficulty getting to sleep. We were glad when school finished on Wednesday and could slow down our pace a little for a couple of days. This weekend she was thrilled to have her cousins Milly and Grace to stay and all of....
Day +365!
Sat Mar 28 2015
Happy Re-Birthday Ava!!! Today is the one year anniversary of Ava receiving her new life-saving DNA. It has not been the easiest 12 months, as Ava has been noticeably affected by issues with balance, coordination, processing speed and memory. However over the last few months we have seen some fantastic progress in Ava, including re-learning many lost abilities like feeding and dressing h....
Day +364
Fri Mar 27 2015
A fantastic day today. We enjoyed an hour of sun before heading into the hospital for our last big day of testing. Ava went under sedation for a lumbar puncture, bone marrow extract, nerve conduction (electric shock) test and MRI brain scan. Afterwards we met with Dr Biffi for a summary of this week's findings... Although Ava's gross motor function has dropped by 3% (actually better than....
Day +363
Thu Mar 26 2015
A mixed day in Milan today and not just the weather. Ava had her Gross Motor Function assessment this afternoon and unfortunately struggled (or refused) to do a lot of the exercises. We don't have the scoring yet, but I'm not feeling confident. On a better note, we met with Dr Biffi who said that, outstanding test results aside, she was very pleased with Ava's general condition. It ....
Day +362
Wed Mar 25 2015
We made it to the duck pond and back this morning, before torrential rain set in at lunchtime. The film crew had gone, but Ava was still delighted to see the squabbling mallards, friendly love ducks and feisty black swans. This afternoon we had a relatively short time in the hospital to perform the remainder of the IQ test. After that Ava hung out at the nurses station while I updated psychologist....
Day +361
Tue Mar 24 2015
We began our day with a visit to the optician, who reported no change in Ava's eyesight since her previous assessment. We then had a break for a few hours, during which we checked out the shops underneath the hospital and discovered these gigantic 5kg Easter eggs! At 3pm this afternoon Ava began her neuropsychometric (IQ) assessment, which takes 3 hours in total. I was worried because this wa....
Day +360
Mon Mar 23 2015
Today was a busy day of testing. We started with abdominal and thyroid scans, followed by chest and hand x-rays. Afterwards we met with Dr Biffi and her team and Ava had countless blood tests, as well as a general physical examination. Next were brain wave, eye nerve and ear nerve assessments. After lunch Ava had a heart scan, a brief assessment by the physiotherapist and a visit to the dentist. W....
Day +359
Sun Mar 22 2015
Today we flew back to Milan for Ava's 12 month post-transplant checks. We are a little ahead of the exact date, but it is tricky for the doctors to juggle monitoring all of the children on the trial, bearing in mind that Ava is number 12 out of 19; and the fact there are also around 150 children on an MLD natural history study who are regularly monitored to help research. Dr Biffi and h....
Day +350
Fri Mar 13 2015
I'm happy to say that the last week or so has been a really positive time for Ava. Post-transplant we noticed that had become increasingly quiet and we had assumed that this was all part of the degenerative effects of the disease, alongside difficulties with balance, coordination and processing speed. After an assessment by a Speech and Language therapist however, it was deemed that Ava ....
Day +339
Mon Mar 2 2015
Last week was rather an odd one. Firstly, the lift in our building has been out of order and Ava has had to climb 8 flights/100 stairs every time we have come in or out of our apartment, on average 4-6 times a day. Ava has really struggled with this and complained a lot about having tired legs. Thankfully the combination of magnesium baths and time in the swimming pool at the weekend made her feel....
Good news!
Mon Mar 2 2015
No sooner were we gearing up for a week of art galleries and museums, than we had great news from Dr Biffi. She checked Ava's blood over the weekend and it seems that Ava has recovered her immunity to Chicken Pox! This is fantastic news and hopefully it will mean that some of her other immunisations have been recovered also. Ava was thrilled to head back to school immediately, now we are just....
Rare Disease Day
Sat Feb 28 2015
Today is rare disease day. I was asked today, as I am most days, whether Ava's treatment is working. The doctors say it is. But the questions still come, because Ava is indeed very unsteady on her feet, quieter in her speech and generally much slower to respond. Yet she is still walking, talking and answering the same questions that she could a year ago. Compared to so many other children bat....
Day +329
Fri Feb 20 2015
We are happy but exhausted after a busy half term week. Ava and Angelina have been on an intensive swimming course which (despite being too early at 9am every morning) has been terrific for both of them. Ava's coordination has improved and I was really proud to see her swim (with float) an entire length of the pool on her back. Ava can struggle to sense her centre of gravity when lying down, ....
RIP Mr Ferrero
Thu Feb 19 2015
Sad news this week that the head of the Nutella/Kinder/Ferrero family passed away. Ava is still wading her way through the 5kg jar that Mr Ferrero so kindly gave her in Milan, which took pride of place on our table this Shrove Tuesday. We were so touched by his thoughtfulness and deeply impressed by his continued dedication to the family firm at the age of 89. We saw him every day for several mont....
Day +317
Sun Feb 8 2015
Apologies for the lack of updates, I have been holding out for Ava's December tests results, which we have been expecting for the last two weeks. We finally received them on Friday and the good news is that Ava's engraftment (reproduction of corrected cells) is stable. The fantastic news is that her ARSA (the enzyme that Ava was missing pre-transplant) level is now "above normal" levels!....
Day +299
Wed Jan 21 2015
Ava has had a good start to the term and was particularly happy last week when her physiotherapist Mel went into school to observe a PE lesson. Mel helped to work out some training so that Ava can take part in the forthcoming gym and dance display. This means a lot to Ava who is very conscious of her limits and always keen to try and do the same things as the other girls. We are still waiting for ....
Day +285
Wed Jan 7 2015
After a great Christmas holiday spent mostly with family, Ava was excited to get back to school yesterday. She was delighted to see her friends and meet her lovely new teaching assistant, Miss Nellie. This morning our OT and physio attended school to make sure that the teachers were fully briefed on the regular movement breaks which Ava requires, as well as ideal exercises for her to do during PE ....
Happy New Year!
Wed Dec 31 2014
What a year. We have gone from the agonising worry about Ava being accepted for Gene Therapy to the indescribable joy of seeing her new life-saving cells being transplanted. We have been through the massive upheaval of our family being split in half for the four month marathon in Milan, only to return home to the fall-out of further disease progression and on-going repercussions of the trauma all ....
Merry Christmas!
Thu Dec 25 2014
Merry Christmas everyone! We are having a lovely, quiet day in a very warm and sunny London. Today we are filled with gratitude for Ava's treatment and the fact that she is still here and able to enjoy the season. Of course Christmas can be wonderful and tricky in equal measure. So we are also thinking of our friends who are facing Christmas without a loved one, particularly those who have lo....
Day +268
Sun Dec 21 2014
We are home after a fleeting trip to Milan. On Friday morning we met with Dr Biffi, who said that she was very pleased with Ava's progress. We have yet to receive results from the blood test to determine the level of engraftment of new cells, however we did hear that Ava's Gross Motor Function was stable and her abdominal scan was clear. Her white blood count is strong and there were no ....
Day +265
Thu Dec 18 2014
Today's day at the hospital began with another blood test and then we met with Massimo the physiotherapist. It was good to get his opinion on where Ava's weaknesses are, as it is very important for us to focus her therapy on specific issues as opposed to general conditioning. Interestingly he identified weakness in her knees, whereas a recent assessment in London surmised that the proble....
Day +264
Wed Dec 17 2014
Last night we returned to Milan for Ava's 9 month post-transplant checks. Our schedule is less demanding than at the 6/12 month checks, so we are staying in town instead of by the hospital, as there will be more to do. The duck pond and gelato parlour definitely hold less appeal in this cold weather... having said that it is actually quite a bit warmer than London. We had a full day at the ho....
Day +259
Fri Dec 12 2014
Poor Ava was down with a stomach virus this week and I was quite concerned on several levels. Firstly, I was worried that her symptoms were as a result of the issue with her gall bladder which developed this summer. Secondly, she missed a good deal of therapy, as she was too weak to leave the house for several days. At this crucial stage, Ava can loose muscle strength and coordination at an alarmi....
Day +253
Sat Dec 6 2014
Sad news last week. No sooner had we made contact with the handful of other families in the UK who have children affected by MLD, when we heard that one precious little girl, Harley (9), passed away. It was a heart-breaking reminder of how cruel and voracious this disease can be and how fortunate we are to have had a chance to prevent such a decline in Ava. I feel even more passionate about Dr Bif....
Happy Birthday Ava!
Mon Nov 24 2014
Today was Ava's 8th birthday and she has had a very happy day, the highlight of which was the entire school singing 'Happy Birthday' to her at lunchtime. She is normally embarrassed by a lot of attention, but this made her feel extremely loved and special. We are fortunate enough to have a wonderfully supportive school, with a tight knit community of very caring girls. We also celeb....
PASSWORD...
Tue Nov 18 2014
Please email us if you would like the password to access the blog: contact@archangel.org.uk
Day +234
Mon Nov 17 2014
Last week was another good week for Ava, with lots of positive therapy sessions and some good new exercises, this week focussing on strengthening the muscles in her feet. We also had an extremely busy weekend, which included swimming, a play date, a visit to my Goddaughter and a birthday party. The fact that Ava copes well with such a hectic schedule is very reassuring. It is also great for Angeli....
Day +226
Mon Nov 10 2014
Ava had a more varied week last week, including the excitement of going to soft play centre 'Gambado' in place of one of her routine OT appointments at Chelsea & Westminster hospital. The NHS facilities are poor in comparison to those at our private OT, however this week the therapist made a real effort to do something different and Gambado was a big hit. It was super quiet as we wer....
Day +227
Mon Nov 10 2014
Ava had a good week last week, the first half of which was filled with excitement in anticipation of a trip to soft play centre 'Gambado', in place of one of her routine OT appointments at Chelsea & Westminster hospital. The NHS facilities are poor in comparison to those at our private OT, however this week the therapist made a real effort to do something different and Gambado was a ....
Day +217
Sat Nov 1 2014
Happy Halloween! We have had a good half term week, which has been a busy rotation of tutoring, therapy and play dates. Ava has tried very hard in her occupational therapy sessions, boosted by the fact that Angelina has been allowed to join her, which has led to trickier obstacle courses and more risk taking. We are at a crucial stage in Ava's rehabilitation, where we must keep challenging he....
Day +212
Mon Oct 27 2014
Ava has asked me to share the exciting news that Elsa from 'Frozen' has finally arrived! Ava had her eye on this Disney 'Animators Collection' doll for some time and was promised it as a reward for her incredible bravery in Milan. However Disney had sold out out of this doll world-wide and, verified by daily phone calls, were out of stock for over six months. She has finally ar....
Day +206
Tue Oct 21 2014
Today ArchAngel donated an incredible 100,000 Euros to help fund more ground-breaking research into MLD treatment at the San Raffaele Hospital in Milan!! I am immensely proud of the ArchAngel team for their sterling fundraising efforts and ever grateful to everyone who has shown us their support. It is because of the kindness and generosity of our friends, our school community and followers of thi....
Day +197
Sun Oct 12 2014
We are still waiting for some test results from Milan, however from what we know so far, we understand that Ava has had a degree of disease progression since her assessments in June. We are still in the window before the treatment can become effective (6-12 months post-transplant), so we always knew that this was a possibility. Ava has been struggling with balance and coordination these past few m....
Day +188
Fri Oct 3 2014
All of Ava's 6 month post-transplant assessments are complete, so today we had a free day in Milan. We began with a visit to the hospital to take care of some admin and to say goodbye to the wonderful staff there. At the 3rd floor outpatients unit we saw Dr Laura, psychologist Francesca and nurse Gigliola. Gigliola then took us down to the 2nd floor isolation unit to see nurse Federica one la....
Day +187
Thu Oct 2 2014
Today was a good day at the hospital. Ava finished her assessments and we met with Dr Biffi for her discharge. We are now allowed to travel home tomorrow, a day earlier than expected, which is great. The hospital staff have been super-efficient this visit and made things as easy as possible for us. We are due back in late December for the next series of checks, which should be quicker again. After....
Day +186
Wed Oct 1 2014
A less hectic day at the hospital today, which began with a Gross Motor Function Score assessment with Dr Laura and neurologist Dr Francesca Fumagali. We didn't receive Ava's score today, however she is certainly having increased issues since her last assessment. She is no longer able to hop or stand on one leg without holding on to something. Walking on a line is also very difficult for....
Day +185
Tue Sep 30 2014
Today started with the wonderful surprise of 3 packages from the mystery parcel sender! Apparently they arrived at the hotel just after we left Milan in June and our lovely waitress Iolanda has been keeping them safe for us. Ava was delighted to unwrap a 'Frozen' card game, some bubbles and a super Dr Seuss book. It occurred to me that many of you must have been guessing the identity of ....
Day +183
Mon Sep 29 2014
Today we flew back to Milan for Ava's 6 month post-transplant checks. I was feeling flustered about being late on our way to the airport when I realised that we were driving through Ovington Square. We were taking the exact same route that we had done on 12th March, when Ava and I were on our way to Milan to begin Ava's Gene Therapy. I was struck then by the proliferation of cherry bloss....
Day +184
Mon Sep 29 2014
Today was a full day at the hospital. We met the lovely Dr Laura on the way at 8.20 and it was great to see so many friendly faces again at the hospital, including nurses Gigliola, Silvia and Morena and Ava's favourite psychologist Francesca. Our day began with a clinical evaluation, multiple blood tests, weight, height, pulse rate and blood pressure. Ava then went for a chest X-ray and bone ....
Day +177
Sun Sep 21 2014
Ava has had another good week at school and continued to make good progress with her therapy. We have been working on trying to help moderate her nervous system, as she has been 'sensory seeking' a good deal. This essentially means that her nervous system is under responsive and she is seeking 'sensation', for e.g. in the need to bite or have deep pressure applied to her body. ....
Day +170
Sun Sep 14 2014
Ava has done 5 days in school this week and loved every minute. I can't believe how quickly she had settled back in and how much energy she has had. We have continued with her therapy every afternoon, which is still crucial at this stage. However Ava was not at all happy to be picked up from school at 1pm for this and was desperate to stay in school longer. It is still early days, but I am de....
Day +159
Wed Sep 3 2014
Today Ava went back to school for the first time since early March. I have talked in this blog about many key milestones in her recovery, but this one seems the most significant by far. Ava is not yet six months post-transplant, yet here she is back in her school uniform and bursting with excitement at the thought of being reunited with her classmates. I have had very mixed feelings today - on one....
Day +148
Sat Aug 23 2014
We are still doing our best to keep Ava as active as possible, as she is struggling with her balance and coordination somewhat. At this stage we are still in the window before the treatment becomes effective, so it's impossible to say whether her current difficulties are attributable to post-chemo effects or actual disease progression. We will know more when we return to Milan for her six mon....
Colourful fundraising!
Sat Aug 16 2014
A massive thank you to Ava's Auntie Emma (centre) and her friends Daniella and Tamisha for taking part in the 'Colour Me Rad' event in Sheffield this morning to raise funds for ArchAngel. Not only did they run 5k, but they had paint flung at them the entire way! Thanks for the donations - and the laughs - girls!
Day +139
Thu Aug 14 2014
The last 10 days have been busy, as usual! We took Gigliola to Kensington Palace, where Ava was mesmerised by the Queen's dress collection - and this fantastic paper Georgian dress. We then had several lovely days in the country, visiting Ava's grandparents, aunt, uncle and cousins. This was a very active time with lots of fresh air and outdoor exercise. Ava is not as strong or as fast a....
Day +129
Mon Aug 4 2014
Last week we did Ava's usual rounds of therapy, plus a visit to the orthotics clinic for heel cup moulds. We also had a session with a very nice psychologist at Great Ormond Street who is keeping an eye on the girls' emotional well being after their recent experiences. Our serious appointments were also balanced out with some fun, including a play date with Angelina's friend Katie a....
Nurse Gigliola is in London!
Mon Aug 4 2014
Gigliola is a member of the amazing Gene Therapy team in Milan. She is a very kind and deeply caring nurse, whose dedication can been seen in the fact that she has chosen to spend her holidays visiting us and learning English to help in her work with MLD families. What a great ambassador for Hospital San Raffaele and for Italy!
Day +123
Tue Jul 29 2014
Last week was again dominated by intense physio, OT and tutoring. The good news is that Ava is already showing improvements with her balance and coordination, which is extremely positive and motivating for all of us. The more mundane aspects of our week were balanced out with a super arts & crafts birthday party; a trip to the cinema to see 'Pudsey'; and the annual school pencil cas....
Day +115
Mon Jul 21 2014
The past week has been very much focused on getting Ava back to normal, with physio, occupational therapy and tutoring taking up most of our time. As Ava's new cells won't be fully working on arresting the disease until around 6 months post-transplant, we must still work very hard to keep her physically stable. Post-transplant she has some increased issues with her balance and coordinati....
Day +107
Sun Jul 13 2014
We have had a super busy week and Ava has managed very well indeed. On Monday she was thrilled to join her classmates at Francis Holland School for a St. Lucia workshop. Ava had a lot of fun dancing and making fruit kebabs and was on a high all day afterwards, having received such kindness from her teachers and friends. We also saw our wonderful chiropractor Jo and had a session with Ava's tu....
Day +100
Sun Jul 6 2014
Today Ava is 100 days post-transplant, which feels like an incredible milestone. At the end of our first week home we couldn't be happier to be reunited with Ava's Daddy and Angelina and it has been wonderful to see so many friends. However the pace of London life has been rather a shock to the system! We have ventured out with caution, but managed to make a brief appearance at the FHS s....
Day +94 Goodbye Milan!
Mon Jun 30 2014
After 111 days in Milan (the figure above is days post-transplant), we are on our way home. This morning we called in at the laundry to say goodbye to the wonderful Sonia and Tea. Next we visited the San Raffaele Basilica, underneath the angel, where Ava wanted to say a prayer. We then went to the hospital for our official discharge and to say an emotional goodbye to the remarkable Dr Biffi (above....
Day +94 Hello London!
Mon Jun 30 2014
Ava was tickled to fly home in seat '1A' and excitedly checked her new Swatch (a reward for learning to tell the time) every 5 minutes. At 5pm we landed in a very rainy Heathrow and before we disembarked, Ava and her new doll 'Luisa' got to sit in the captain's seat! BA Special Services whisked us through passport control and before we knew it we could see Ava's daddy....
Day +93
Sun Jun 29 2014
Today was our last full day in Milan and it started with a surprise gift of this cute teddy bear from one of the waitresses, Alexandra, in our hotel. We managed a brief walk before the rain started and continued for the rest of the day. However nothing could dampen our mood, as we are both super excited about going home. Ava has chatted non-stop about her plans and can't wait to be back in he....
Day +92
Sat Jun 28 2014
A very leisurely day in Milan today. We walked to the lake to feed the ducks and turtles before popping to the local shops to buy the last few gifts for some of the lovely friends we have made here. Ava enjoyed one last trip to the pizza restaurant underneath the hospital then we headed to the zoo. We fed bread to the cygnets, Ava's favourite, who seem to be bigger every day. When we returned....
Day +91
Fri Jun 27 2014
A big day at the hospital today. Ava went under anaesthetic for an MRI brain scan, nerve conduction test, bone marrow extraction and catheter removal. Having 'Wiggly' the catheter removed was especially exciting for Ava and is a huge milestone in her recovery. Everything went really well and, with the exception of a brief sign-off on Monday, Gene Therapy is done! This is an amazing feeli....
Day +90
Thu Jun 26 2014
I cannot believe we are at 90 days post-transplant! This is the number we knew we would have to get to before Ava's 3 month post checks could begin, the final hurdle before coming home. There is no denying that the past 90 days have been very tough at times, however Ava's staggering bravery has certainly made things easier for me. The exceptional care we have received at Hospital San Raf....
Fabulous Ferrero!
Thu Jun 26 2014
I was staggered this evening when the head of the Ferrero family gave Ava her own personalised jar of 'Nutella' AND a magnificent 5kg jar! Such incredible thoughtfulness is a perfect example of how the Italian people have gone out of their way to show their kindness and make us feel welcome here. Thank you very much indeed Mr Ferrero, "sei meraviglioso!". Thank you also to his friendly ....
Nutella party anyone?!
Thu Jun 26 2014
We couldn't resist another photo, we are so tickled by this. Ferrero are celebrating 50 years of Nutella, long may they prosper!
Day +89
Wed Jun 25 2014
Last nights thunder storm and torrential rain lasted all through the night until around lunchtime today. So we were house-bound this morning and practised telling the time and did some more packing. When we emerged we discovered that the hotel garden was completely water-logged and the nearby car park flooded. It seemed in total contrast to the very hot weather we have been having, yet by mid-afte....
Day + 88
Tue Jun 24 2014
We had no plans this morning and the weather was forecast for thunderstorms, but we took a chance and ventured up to the lake, where it was warm and sunny as usual. Back at the hotel for lunch Ava had a lovely surprise when nurse Federica walked in. We haven't seen her since we were in isolation, where she was really caring towards Ava and made her laugh a lot. Ava lit up instantly today when....
Day +87
Mon Jun 23 2014
Today we had an early hospital appointment. Ava was nervous about having to have a routine anti-pneumonia treatment which is administered via a nebuliser, but thankfully the doctors decided that she was strong enough to go without it. Her blood results were good - neutrophils are still 1200, but platelets are 138,000, which is fantastic! Ava did her gross motor function score test for Dr Francesca....
Super cool nails!
Mon Jun 23 2014
Thanks to Lexy and Scarlett in NY for this very cool butterfly nail art and two beautifully creative cards!
Day +86
Sun Jun 22 2014
We had a lovely morning together with Angelina and Aileen before they headed back to London. The ducks and swans at the hospital zoo have never had such a feast of breakfast rolls and we also had time for one last gelato. Ava is rediscovering her sweet tooth and devoured a fresh doughnut. Despite my usual insistence on a super-healthy diet, I am allowing her the odd treat after everything she has ....
Day +84
Sat Jun 21 2014
Today we have had 2 long walks in the sunshine and Ava has been chatting excitedly about what she is looking forward to at home; namely seeing her friends and sausages with mash! We also started packing and have already shipped a big box of toys and books back to the UK. I am excited to be planning our return home and really looking forward to catching up with so many of our friends and well wishe....
Day +85
Sat Jun 21 2014
Today we have had a lovely day in the sun and Ava has enjoyed showing Aileen our local area. Firstly we wandered up to feed the ducks and then stopped by our favourite cafe 'Duls' for ice cream and granita. Afterwards we went to the local playground, which was again deserted, and the girls were delighted to discover another island. They enjoyed skipping over these stepping stones and lov....
Day +83
Thu Jun 19 2014
After a nice walk and visit to the playground this morning, we heard that tomorrow's hospital appointment was being brought forward to this afternoon. Ava met Dr Sabrina for her neuropsychological assessment, which is one of the routine tests she regularly undergoes to monitor any changes in her cognitive function. As Gene Therapy won't arrest her condition for around six months after tr....
Day +82
Wed Jun 18 2014
Ava and I were out for a walk this morning, wondering how to fill our day when we bumped into Giada and her Dad, Luigi. Together we went inside the building with the Archangel Raphael on top, here you can see the DNA double helix spiralling towards the dome. It is symbolic of the belief in the unity of science and religion held by the founders of the hospital. This building is adjacent to where Av....
Day +81
Tue Jun 17 2014
This morning looked like another dull and wet day in Milan but we decided to venture out anyway, as we needed to drop off our laundry. Our day was instantly brightened by Sonia and Tea, who are so very kind and caring. Firstly, they picked up from the blog that Friday was my birthday and gave me a beautiful notebook as a gift. Secondly, they gave Ava a lovely umbrella as we don't have one her....
Day +80
Mon Jun 16 2014
All was well at the hospital today. Ava did more craft with Francesca and her blood test numbers were good. She also did well in the Gross Motor Function Score test, which wasn't actually for her but she decided to do it anyway to help out a reluctant Jada. The only slight negative was that Ava has lost a little weight in this last week, as she has been eating very little, aside from her twic....
Day +79
Sun Jun 15 2014
Today was very wet so we spent a happy Father's Day indoors drinking smoothies, watching movies and chatting about our plans for the summer holidays. We tried to keep these images in our head as we said goodbye to Ava's Daddy and Angelina, which is never easy. Thankfully we only have a few more weeks apart. After dropping them at the airport we headed back to our hotel, where we met a lo....
Day +77
Sat Jun 14 2014
A quick visit to the hospital today, where Ava made a funny little whale from puffed corn with Francesca. I had been worried about Ava having a slightly low red blood count on Tuesday but today everything was fine. Not only were Ava's results good, but we were also told that we will find out on Monday when we can fly home! Ava is perfectly happy in Milan, as am I, but we are more than ready t....
Day +78
Sat Jun 14 2014
Thankfully the torrential rain forecast for today held off until this evening and we have had a nice day of shopping in the town centre. Ava was very proud of herself having climbed up these giant steps! Afterwards Angelina and I spent several hours working on her school project about London and both girls were thrilled when a lovely English waiter called James in our hotel gave the girls a bag of....
Day +75
Thu Jun 12 2014
Another day spent mainly indoors due to the very high temperature outside. We fed the ducks early and were back at the hotel by 11am, by which time it was already too hot. We ventured out again at 6pm and visited the zoo before going for a treat dinner at the pizzeria under the hospital. Ava has been practicing her Italian today and took great delight at saying the word 'puzza' in the re....
Day +76
Thu Jun 12 2014
Ava has been looking all week to buy some chocolates for Father's Day, but the Lindt shop under the hospital is currently only stocked with bargain price Easter eggs and the local shops seem to only sell candied fruit. So this morning we took a trip to a nearby shopping centre, Ava donned her infection mask and we set off early to miss the crowds. Happily the mall was empty and Ava enjoyed a ....
Day +74
Tue Jun 10 2014
Another sweltering day in Milan. Luckily we had the diversion of the hospital today, where everything was well. Ava's platelets continue their ascent and are up to 111,000! Dr Biffi said that since Ava is doing so well and requires no transfusions or IV medication, she will reduce our hospital visits even further. So now we are to report twice weekly and have blood checked only once weekly. A....
Day +73
Mon Jun 9 2014
Today the temperature peaked at 34 degrees, which was way too hot for Ava. So after a brief walk this morning, we returned to the shade of the hotel garden and by lunchtime we had abandoned all thoughts of being outdoors and headed for the comfort of air conditioning. Whilst I like Ava getting the vitamin D from the sun, I am equally happy to be indoors, as it gives us a chance to do some more exe....
Day +72
Sun Jun 8 2014
Our walk this morning was eerily quiet and we deduced that everyone must be in church. At the same time we came across a large notice board featuring this prayer to Archangel Raphael, whom the hospital is named after. Whatever your religious beliefs, I am sure that you can appreciate it as a powerful symbol of hope for the thousands of people who put their faith into this hospital, as we have done....
Day +71
Sat Jun 7 2014
It was 30 degrees in Milan today and during the forthcoming week it is forecast to get even hotter. No wonder Ava thinks she is on holiday! We have spent a leisurely day feeding the ducks, playing in the garden and visiting the zoo. We found lots of 'dandelion fuzz', which reminded us of Olaf's song in 'Frozen', and made lots of wishes. Ava wouldn't reveal hers in fea....
Day +69
Fri Jun 6 2014
Ava had a relaxed day in Milan with Grandma, Poppy and Winnie the bear. Grandma was happy to report that Ava's stomach was fine and that her eating and drinking have picked up. She has a new favourite drink, which is cucumber water and is satisfying her meat cravings with a special Bulgari burger. It's so nice to see her already having put much of the trauma of the hospital behind her an....
Day +70
Fri Jun 6 2014
After the incredible success of last nights ArchAngel dinner and auction , I arrived back in Milan to even more good news. Ava's platelets have increased to 104,000, which means that her bone marrow is functioning very well indeed. Ava has had great fun with Grandma and Poppy the last few days and was sorry to say goodbye. We have spent this evening reading a huge pile of beautifully written ....
ArchAngel bunnies now online!
Wed Jun 4 2014
Thanks to the marvellous idea and very hard work of Alison and Honor Phillipson, you can now buy one of these super-cute 'Jellycat' bunnies on this site! They chose this particular rabbit as it is Ava's favourite and they have all been cleverly customised with beautiful satin ribbons featuring the Archangel logo. Ava is really happy to think of so many children having the same bunny....
Day +68
Wed Jun 4 2014
Ava has had a great day in Milan with Grandma and Poppy, the highlight of which was a trip to the Disney store for an Animator's Collection 'Merida' doll. It was very hard to leave her to fly to London, but I had a wonderful welcome home from Angelina and Richard. We are all excitedly preparing for tomorrow nights ArchAngel dinner and auction and everything is coming together beauti....
Day +67
Tue Jun 3 2014
Ava's hospital checks went well today, her neutrophils are steady at 1300 and her platelets are going from strength to strength, now at 90,000! Afterwards we travelled back into the centre of Milan to meet Ava's Grandma and Poppy, who are in Italy for the rest of the week to enable me to fly home for the ArchAngel dinner and auction on Thursday. Ava was thrilled to see Poppy for the firs....
ArchAngel MLD Trust charity dinner
Tue Jun 3 2014
The fund raising dinner at the Bulgari Hotel in London is just two nights away. For anyone who has not seen the lots yet, the auction catalogue can be viewed here
Day +65
Mon Jun 2 2014
A quiet Sunday here, all of the shops were shut and it seems like everyone has gone away for the bank holiday weekend. Ava wasn't complaining, as it meant she had the local playground all to herself. It was nice for her not to have to wear her infection mask, as she usually does so when near other children. She hates the smell of it and I have to put geranium oil on it before she will put it ....
Day +66
Mon Jun 2 2014
Today was a bank holiday in Milan, so again very quiet everywhere. Ava had a sore stomach today, so we didn't venture far, but we did visit the zoo in the hospital grounds and saw some lovely cygnets. We had a relaxing afternoon at the hotel, where Ava watched several episodes of 'Dragons: Riders of Berk', a follow-up to 'How to Train Your Dragon' and which she absolutely ....
Day +64
Sat May 31 2014
Ava and I found it hard saying goodbye to her Daddy and Angelina today after such a great week together. We have been away 12 for weeks now and most days it feels even longer. However, this afternoon we were cheered up by fantastic news from Derbyshire, where a coffee morning, cake and bric-a-brac sale for ArchAngel raised an incredible £780! And that's not all, there is still a car boot sal....
Day +63
Fri May 30 2014
A lovely day in sunny Milan today. The girls had a great time on Pixie Island, which was made even more special by the thoughtfulness of Julia Longo Dente at our hotel. The girls are very fond of Julia, who is always keen to ensure that everything is perfect for them. Today she arranged a delightful picnic for them, with lots of their favourite foods, including fresh strawberry juice and gluten fr....
Despicable Milan!
Thu May 29 2014
The girls decided that the bollards around the hospital complex needed livening up and spend this morning at the hospital designing some very funny minion adornments. Banksy eat your heart out!
Day +62
Thu May 29 2014
Excellent results at the hospital today, Ava's platelets have jumped to 80,000 independent of any transfusion. Her neutrophils were steady at 1300 and we were assured that they can fluctuate at around this level for some time. As long as we continue to take adequate precautions regarding bacteria and infection - her normal level is about 3000 - this is still deemed safe. As Monday is a bank h....
Day +61
Wed May 28 2014
Today we had a special visitor. Our fantastic Chiropractor Jo O'Brien flew to Milan for the day to adjust all four of us! Jo has looked after us at the Berkeley Clinic in London for a few years now and has taken extremely good care of Ava since diagnosis, not only structurally but also with regular testing for nutritional needs. Jo, alongside Ursula Gateley from the Hale Clinic and Chris Asti....
Day +60
Tue May 27 2014
Today we are 60 days post-transplant, which means we are around two thirds of the way through our stay in Milan. The girls have been very active today, with a walk to the lake, a visit to the playground and several hours playing in the hotel garden, where they excitedly watched the air ambulance land and take off only 50 meters away. I have spent most of the day chasing final details for the catal....
Day +58
Mon May 26 2014
A lovely Sunday spent in the sunny garden of the Bulgari. The girls hung out on 'Pixie Island', which includes a base camp, lookout point, jungle and flower meadow. In true Enid Blyton style, their many adventures there kept them occupied for hours. I was nervous about being so far away from the hospital and almost went back there when Ava was unwell twice after her new antibiotics. But ....
Day + 59
Mon May 26 2014
We went back to the hospital today at 9am for our routine medication and checks. Dr Biffi was so pleased with Ava's progress that she decided to reduce our hospital visits to twice weekly, which is terrific. We now have capsules (wish me luck) instead of some of the regular IV medication, which is another step towards her independence. We have approximately 6 weeks left in Milan and will now ....
Day +57
Sat May 24 2014
This morning Ava and I packed our bags and headed into the centre of Milan for the weekend. I was incredibly nervous about leaving the vicinity of the hospital, but Ava wore her infection mask and we constantly washed our hands thoroughly, so hopefully remained infection-free. Ava's daddy and sister flew in this afternoon and it has been wonderful getting our family together outside of the ho....
Day +56
Fri May 23 2014
Good news from the hospital today, Ava's platelets had increased by 4,000. It doesn't sound much, but this is very significant, as it is the first time they have climbed without a transfusion, which shows that Ava's body has begun producing her own platelets, rather than relying on them being given to her. This is a big indicator that her body is getting back to normal after such in....
Day +55
Thu May 22 2014
Another hospital free day today. This morning we took our usual walk to the lake and Ava was thrilled when these two ducks came out of the water and sat on the grass by us. They have been christened the 'love birds', as they always swim together. We are glad to have this daily distraction, as we certainly have a lot of time on our hands on our free days. Especially when it rains, like th....
Day +54
Wed May 21 2014
Today we were at the hospital from 9am until 3pm again. Francesca the psychologist surprised Ava with lots of glittery paints and glues and they did some some great artwork together. This was actually therapy for Ava's fine motor skills. Although the Gene Therapy trial is aiming to cure MLD, previous patients have not seen their disease arrested for at least six months post-transplant, so we ....
Day + 53
Tue May 20 2014
A hospital-free day today. This morning Ava met Sonia and Tea, the lovely ladies from the laundry who take care of our never ending washing. Not only are they super efficient and very generous, but they are also incredibly caring. Their kindness has really helped me to feel at home in Milan. We followed this visit with our daily walk to the lake, via Ava's favourite bakery, where she likes to....
Day +52
Mon May 19 2014
A great day at the hospital today, with 1300 neutrophils and 73,000 platelets! So despite a very active weekend with Luisa, Ava has not overdone things and managed to hold her levels. After 6 hours of infusions, we headed to 'Duls' cafe for our daily smoothie. Ava's taste buds have changed quite a bit through chemo and now she is no longer keen on anything sweet. Which is fantastic,....
Day +51
Sun May 18 2014
Ava had a fun morning with Luisa playing in the hotel garden and feeding the ducks and turtles again. The lake is apparently nine tenths of a mile from the hospital/hotel, so I am still incredulous at the fact that she has happily walked there and back every day since discharge. Luisa and Ana Maria left immediately after lunch and Ava cried for 2 hours. She then started reminiscing about all of th....
Day +50
Sat May 17 2014
Today Ava and had the most wonderful day with Luisa. Literally the entire day, from 9am until 10pm they have been inseparable. This morning they fed the ducks and played happily on the grass by the lake. This afternoon was spent making rose petal perfume and taking turns to be beautiful brides. After a break for a Barbie movie, they chatted, laughed and sang their way through dinner. Luisa has bee....
Day +49
Fri May 16 2014
The playground is safe, Ava's neutrophils are 1200! Today we spent 6 hours at the hospital, for routine medications and checks. The doctors were quick to spot a couple of fresh bruises on Ava's knees (probably from crawling through a tunnel at the playground) and immediately gave her a platelet transfusion. So we are all good and ready for a hospital-free weekend. And with perfect timing....
Day +48
Thu May 15 2014
No hospital today as the doctors were so pleased with Ava's blood work yesterday. I shall be interested to hear her neutrophil level tomorrow after the exposure to germs she has had today at the local playground... We had a very nice day in the sun with my good friend Karen, who arrived from Bournemouth last night. We fed the ducks and turtles and visited the local ice cream parlour for gelat....
Day +47
Wed May 14 2014
We were back at the hospital at 9am this morning for blood work and IV medication. We were there for 6 hours, during which Ava played and danced with Francesca the psychologist. She also had a visit from the hospital clown! Dr Laura was happy to report that Ava's neutrophils and platelets had remained stable, which is excellent news considering that since leaving the hospital she must have c....
Freedom!
Tue May 13 2014