Wedding Belles

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 Northumberland for a few days to celebrate a family birthday (happy 21st Lewis!) and a couple of weekends ago we all attended a fun wedding in Derbyshire, complete with outside games and a 'hip-hop ...

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Two Peas in a Pod

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 experiences and knowledge of the disease and also enlist their support for our newborn screening campaign. Day 2 was family day and although we didn't quite get all of the affected UK ...

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The wait is over

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 October 2014, so we are all hugely relieved. Ava's friends are incredibly important to her and the motivation she gets from them is a vital part of her recovery and well-being. ...

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School’s out

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 recipient of the Sarah Styles trophy for Determination and Tenacity, along with a 'Distinction' award. We are so proud of her resilience and positivity, despite often feeling the weight of our situation ...

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You could save a life

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. Unfortunately her leukaemia was very aggressive and she tragically passed away, at the age of 2. Despite their devastating loss, the Martini family have continued their selfless campaign to ...

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Gene Therapy News

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.  http://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2816%2930374-9/abstract#.V1mmJPqMvsc.facebook

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Exciting news 

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 soon! This is wonderful news and an incredible step towards combating this horrendous disease. That said, the sad reality is that most children are diagnosed too late to receive ...

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Happy half term 

Ava enjoying the country air 

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A magical encounter

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 on the first floor, she is now restricted to spending most of the day in a ground floor teaching room, separate to her classmates. It certainly eliminates risk of falling, but it's ...

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Place your bets!

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 that it would make her feel more different or even embarrassed. Ava wasn't happy after the first day - although surprisingly not for the reasons I had supposed. She admitted that ...

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Back to school…

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 struggled with her balance and all aspects of her mobility have been more difficult. Thankfully she was well enough to return to school for the start of the new term yesterday. The ...

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2 years + 1 day!

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 had with Ava since then, when she could have lost so much more ability. I spent most of the day yesterday remembering the incredible support we received from the hospital team, ...

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1 year + 363 days post transplant 

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 the area responsible for motor function. This would certainly correlate with what we see on the outside. The neurologists believe that Ava's nervous system is still in fluctuation but ...

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1 year + 361 days post-transplant

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 of weight. After detailing her very healthy and well balanced diet, their conclusion was that Ava eats too many vegetables and not enough cake!! Now I can understand a recommen...

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1 year + 359 days post-transplant

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 a lot of her IQ test today, definitely responding faster and more accurately than last time. Her gross motor function has not been great, but as Ava is extremely tired (not sleeping ...

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