May 2017

Hi all,

Apologies for my tardiness in updating Ava blog, life has had quite a good go at getting in the way!

Ava is now 10, yes 10 and I cannot believe how much she has grown and is changing.

Some changes we are thrilled to see and others leave us frustrated and sad.  However as always we keep positive and ever hopeful of scientific and technological developments that will favour Ava and help her through the challenges she faces on a daily basis.

We are eternally grateful for the continued support, kindness and downright marvellous people be it family, friends, and medical or educational professionals who make Ava's life a happier, healthier and more fulfilled time giving her opportunities that her peers and all of us take for granted.

In the last 2 years much has happened, she has been attending a specialist Deaf school which has given her excellent communication skills in the form of British Sign Language (BSL) and who have pushed forward her education and life skills. Whether due to the severity of her visual impairment she will ever read is to be seen, but we keep pushing ahead in the hope this may one day be a reality.

She has had a cochlear implanting surgery (CI) to try and improve her profound deafness and give her access to environmental sound and maybe one day speech. It's such a long long road, having been in the deaf wilderness for so many years, it was never going to be a short term fix and almost 2 years in and she is just starting to recognize certain environmental sounds - a dog barking or a loud musical beat.

She has had a new electric wheelchair, a wonderful piece of kit which can turn on its on axis and within a small space. For this we have to thank all the wonderful people at BAE especially Liz Roskell and the her army of “cakey bakey” ladies who tirelessly raise funds to give her equipment we simply could not afford to get her and is unavailable due to funding restrictions in the NHS.

This will give her a sense of independence ; all be it monitored and with mum hovering over the emergency cut off in fear of her squashing a small dog or child! Ava loves going for a walk around Preston docks with her family and then finishing her trundle with a big fat ice cream as a reward for a job well done (and for not killing any pets or kids! )



This wonderful piece of kit will also be invaluable as she this year takes the big step of going onto high school, a monumental moment for us all as she spits in the eye of her disorder once again by doing something we were told would never happen (proud mum & dad alert). We were told Ava wouldn't get to 7 years old, she would never achieve anything...well ok by other children's standards she may not be at the same academic level, but she is bright, funny, clever and she is here....just saying that gives me all the pride I will ever need....my special girl is here and fighting a good fight and is going to high school ....how could anything else ever matter!

Of course with a Neuro degenerative syndrome there is always going to be a downside no matter how upbeat we try to be. Ava’s spinal scoliosis is considerably worse; currently she has a spinal brace in place during the day to try and slow her curvature and support her weak core muscles. She has orthodontic problems and jaw issues which need work, her upper arms are weaker and her hands more contracted making her BSL difficult and tiring to form. She has now developed retinitis pigmentosa on top of her Nystagmus, damaged optic nerves and limited peripheral vision making her night sight now none existent.

As she gets heavier she also is struggling to weight bear. This means she is less keen to be mobilized with help when moving between areas. This we cannot afford to let happen, as she weighs 48kg now, it's getting more and more difficult for Graham and I to physically move her....we are not getting any younger! So we are working with some rather clever engineers to try and develop a bespoke walker for Ava to help her regain a little confidence in standing again....fingers crossed.

Of course puberty has to be mentioned, people skirt around these physical changes as it’s uncomfortable to talk about our bodies in such an intimate manner. However it's for Ava just another complication in her physical journey, the onset of puberty has added to her woes - acne, body hair, raging hormones and of course periods. She has for the most part taken it all in her limited stride, and we are navigating it the best way we can. But it's all a learning curve, for Ava, us and of course those who manage her daily care at school. It's frustrating, because the surge of hormones is not only playing havoc with her moods - but it's physically impacting her spine, eyes and metabolics.

So what's next?

Well we are thankful to the BVVL (RTD) community for support, but especially to a rather brilliant man called Keith Massey whose daughter Julia is also RTD type II like Ava. He is driving forward research, aiming to garner support for more testing and better treatment. He has set up a foundation in the U.S. something we are hoping to mirror here so that we can raise not only money but also awareness of this disorder.

We know that there are so many more suffers out there that are literally dying for a diagnosis or fall into the Syndrome Without  A Name (SWAN) class. These children deteriorate and die for the lack of awareness, treatment and education and this cannot be allowed to happen.

So a much as we champion our daughter and her needs, we also want to ensure that this syndrome is better & earlier recognised, and then through research it can be treated with more precision and tailored to each patient’s needs. We know that the medicine plan Ava is on is helping to slow her progression, but sadly not enough. Over the last two years we have seen her deteriorating, we are heading to spinal surgery at some point and possibly release surgery on her wrists on top of the other issues which we are trying to contain and manage.

It's not fair, really it's not...she should be like every other 10 year old, out on her bike, playing and chatting with her friends and taking dance lessons...but that has not been her given path in life. So her life may take a different route but we will do our utmost to ensure that it is a happy one, one that she finds fulfilling and that not only breaks down barriers, but allows her to achieve her personal goals.

Ava's life is not the one we would have chosen for our beautiful babe, but we will make it count, make it benefits others, make it be a positive influence on all she encounters - now but also in the future. We love Ava #weareava

Laura X





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