Archived Entries from 2016 - 2017

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Check-up time in Milan - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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! - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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! - Click here to view this entry

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! - Click here to view this entry

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 - Click here to view this entry

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  - Click here to view this entry

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! - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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....
Back to school - Click here to view this entry

Back to school

Mon Sep 12 2016
Excited to be going back to school to see her friends :)
Senior school already!  - Click here to view this entry

Senior school already!

Mon Sep 12 2016
Ava's sister Angelina, ready for Year 7!
Wedding Belles - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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  - Click here to view this entry

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 - Click here to view this entry

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....
Happy half term  - Click here to view this entry

Happy half term

Mon Jun 6 2016
Ava enjoying the country air 
Place your bets! - Click here to view this entry

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... - Click here to view this entry

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! - Click here to view this entry

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  - Click here to view this entry

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 - Click here to view this entry

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 - Click here to view this entry

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! - Click here to view this entry

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' - Click here to view this entry

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 - Click here to view this entry

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! - Click here to view this entry

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 - Click here to view this entry

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! - Click here to view this entry

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....

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