Archived Entries from 2014 - 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....

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....