Archived Entries from 2014 - 2015

Merry Christmas from the Maldives!  Love and peace to all our family, friends and supporters xxx

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....

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....

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....

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....

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 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. 

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 ....

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....

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....

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....

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....

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 ....

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....

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 ....

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....

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....

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....

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....

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&#....

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....

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....

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....

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....

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....

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....

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....

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....

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....

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....

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....

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, ....

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....

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 ....

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....

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.....

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....

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. ....

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....

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....

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....

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 ....

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....

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....

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....

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....

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 ....

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....

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....

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....