Story Written 2019

Amelia is known as a SWAN – Syndrome Without A Name. She has multiple, complex medical conditions resulting from a neuromuscular disorder but as yet no unifying diagnosis. She is cognitively typical.

Shortly after birth Amelia was diagnosed with congenital upper limb arthrogryposis which caused contractures and restrictions in her upper body. She had less than 20 degrees range of movement in each arm, an obstructed airway and feeding difficulties as well as reflux.

She was initially referred to orthopaedics and physiotherapy then rapidly to paediatrics, dietician, speech and language and onwards to Great Ormond Street for multiple assessment, diagnostic and genetic testing.

Due to severe reflux, repeated chest infections and failure to thrive, aged two she had surgery to place a gastrostomy feeding tube and a Nissen’s fundoplication wrap to prevent refluxing into her lungs.

Aged three, Amelia was still failing to thrive and further investigations diagnosed gastroparesis (delayed gastric emptying with a wide range in severity of symptoms), a duodenal ulcer, multiple food intolerances and her diet was dairy, egg, soy, wheat and gluten free. We have over the years been able to reintroduce these foods in small amounts with varying degrees of success but limit consumption to prevent pain. Amelia has required yearly endoscopies since 2012 for management and diagnostic purposes.

In 2014, Amelia had her gastrostomy re-sited due to growth and gastric spasms. She experienced post-surgical complications and had to be re-admitted a few weeks later for a lengthy hospital stay and further surgery. Her recovery took over six months.

In recent months, Amelia has again experienced gastric spasms and an investigative procedure revealed this required intervention. In an effort to prevent a further re-site, Amelia went under anaesthesia to trial a different feeding device but unfortunately this has not been successful and we are therefore in further discussions with her surgeon.

Amelia has complex gastrointestinal and bowel difficulties caused by dysfunctional gut movement leading to frequent pain and severe constipation.

In 2016, Amelia had an ACE bowel stoma formed. Unfortunately Amelia’s site prolapsed on three occasions requiring further surgery and from late 2018 onwards, the washout procedures became unsuccessful because of the ongoing difficulties,

Amelia spent most of March and April as an in-patient on the gastro-intestinal ward at GOSH recently and in May 2019 had a colostomy procedure.

Amelia wears orthotics in shoes to minimise pronated (rolling) gait but Amelia’s ankles have become restricted in range in the last 6 months so she now requires overnight leg splints which have to be fitted before bed. She also wears arm splints overnight which we hope will prevent the need for surgery in later years. She requires daily physiotherapy on upper and lower limbs. This takes 15 to 20 minutes twice a day. Amelia eats small amounts orally but requires overnight feeds and at times daytime feeds to maintain growth. She has an unsafe swallow when fatigued and is at risk of choking so requires constant monitoring when eating/drinking. Past choking episodes have led to hospital admissions and airway/lung investigations under anaesthesia.

Amelia attends mainstream school with practical and physical support. She is being taught to use a scribe, dictate and work on a computer to aid her school work and minimise her tiredness. Amelia is a part-time wheelchair user due to muscle weakness, fatigue and pain. She is hyper-mobile in lower extremities which causes joints to extend beyond their range and can lead to dislocations.

Amelia takes over 10 different medications up to four times per day depending on type/timings. She needs support with all aspects of dressing and undressing although this varies depending on her fatigue levels. On “bad” days she will not be able to dress herself at all. On “good/moderate” days she may only need support with buttons, zips, shoe fastening etc.

In recent months Amelia has struggled emotionally with being different to her peers, not being able to keep up with her friends and being tired. With the help of the community nurses and GOSH, we are seeking psychological support for her.

Above all else, she is an amazing young lady; wise beyond her years, compassionate, caring and vivacious. She loves drama and singing and is an excellent mimic.

Update 18th November 2024

I can hardly believe that the tiny, feisty, scrap we brought home from hospital all those years ago has been in our lives for almost 16 years but in December, Amelia B/Minx will turn 16! 

This has been a huge year of personal growth and development. Whilst we have always been proud of her, her new found confidence, sense of self, of the robust, kind, considerate and independent young woman she is, has really come to the fore and it’s such a privilege to witness how she faces the various challenges of being a teenager (hard enough!) and living with chronic, life long and complex disabilities.    

In January this year after an admission to Great Ormond Street  and following some stressful tests and procedures, Minx was not physically or mentally well enough to return to school. In fact, we took a long, hard look at the situation and decided that something had to give.

Despite extensive tweaks and adjustments as well as a completely bespoke timetable, the last 4 years of secondary school 

have not been good ones for Minx (through no fault of the school) Matters came to a head when we recognised just how totally exhausted she had become from the physical and sensory demands and she was so very unhappy.

She was permanently exhausted, looked dreadful, her chronic pain was uncontrolled and she had for all intents and purposes ‘shut down’ – frequently falling asleep in class, coming straight home to go to bed, having to be woken for dinner and then going straight back to sleep again. Weekends were spent in bed; she wasn’t able to socialise with her friends or just be a typical teenager. 

We spoke with school about implementing a virtual education package and some 1:1 tutoring as an interim approach. Within a few weeks of trialling this, the difference in her was incredible. She was sleeping better at night, she had more energy, a greater capacity to learn with far better attendance, a reduction in overall pain and was generally a much happier, more confident individual. 

To our huge relief (and all gratitude to their parents) her ability to remain in touch and connected with her 2 closest friends  blossomed as she was now able to socialise and interact with them in a way she had not been able to do for a long time. Every afternoon when her friends got back from school, they would immediately connect online, watch TV shows and films together (complete with running commentary!)  read books, game, tease etc etc and then also meet up in person once a week or so, venturing into our local town or meet at each other’s houses. That friendship group has now grown and there are 6 of them so it often sounds like a party is going on in our house!

Minx began to advocate for herself in meetings with the myriad of health, education and social care professionals that come as standard in a life with multiple and complex needs and she was (is!) brilliant at it. It was such a relief to have ‘our’ Minx back as she had become a shadow of herself -I don’t think any of us had realised quite how awful things had become until we saw the changes in her. 

It wasn’t just the immediate family who noticed either. It was such a paradigm shift that the various medical, health, school and social care professionals on “Team Minx”  all commented and were astounded by the difference.  Although collectively we had reservations about her withdrawing further into herself without the day to day interaction of a typical school day, the opposite was true and she is in fact actually much more able to engage and happier to do so. She is also now better able to recognise and ask for help when she needs it rather than closing herself off. This wasn’t lost on any of us and so we began to look in greater detail about how an appropriate education package in a very small, suitable environment could be put together for her.

And that’s where things got harder. Whilst there are a myriad assortment of different SEN settings, there are no educational establishments (at least in our area and across the whole of Yorkshire) that can offer a place for a young person that is cognitively typical but with medical and physical needs as well as autism.  

So we have been trialling a sort of hybrid home educational package where she remains on roll with her existing school facilitating matters. However, as with many things disability related and especially where funding comes into it, this is not straightforward and I seem to spend vast chunks of time in meetings, on calls and compiling ever more paperwork. No rest for the wicked!   

Nonetheless, she is so much happier and now learning to live her life WITH her various diagnoses and all that comes with them rather than being defined by them that it’s all very much worth it and we (I!) will continue to rise to the challenge to, pardon the pun, ensure everything is in place so she can live her ‘best life’. 

Our sincere gratitude and thanks as ever to all those who so kindly think of our family, Minx especially and for all who send such thoughtful, generous and gorgeous drawings, letters, cards and gifts. I’m always blown away by the excellent drawings and the time and effort people put into really catering to her interests.

Minx is a fairly typical teenage girl, sassy and feisty! She loves fashion and has quite a unique look at the moment she is into corsets, snazzy tights like fishnets with patterns on (she has Hello Kitty ones at the moment). Loves meeting her friends in town and enjoys bubble tea and Chai Latte, also likes sweets especially American style ones, but nothing hard boiled. Loves Billie Eilish, Stitch and XBox with her friends. Also make up and nails.

Update 3 February 2024

Firstly thank you to you & all supporters/volunteers for everything you do for Amelia and our family.

Amelia is now 15 and remains obsessed with all things Billie Eilish & adores Billie merch 😄 Every Christmas & Birthday she adds “Billie” to her list and her ultimate life dream would be to meet her. 

Amelia loves makeup, perfume, nail art/polish (darker colours). Enjoys reading and frequently goes to The Works to pick out discounted books. Our cat Tilly is very precious to her. 

Amelia likes Stranger Things, Stitch, meerkats, Copic markers for drawing – she is very artistic on paper & also using her ipad.

Lindor red or black chocolates are one of her favourite chocolates and her favorite sweets are tang-fastic haribo, nerds & Millions.

Amelia likes going into town with her friends & heading to Claire’s Accessories, Starbucks, The Works as well as Superdrug & Primark. She also enjoys perusing second hand shops. She is very stylish clothes wise, putting together unique & quirky looks. She favours pleated mini skirts, fishnets/ripped tights, lacy accessories and lashings of liquid black eyeliner! She is very petite & recently pierced her own nose at home! 

Health wise, Amelia’s gastro issues continue to be ongoing, painful and difficult to manage. Her muscle weakness and fatigue are quite profound at times, often leaving her very tired and needing a great deal of catch up sleep. There have been additional health complications/issues added to the (already very long!) list but her overall neuromuscular disease still remains of unknown cause so far despite extensive genetic testing. 

Amelia is autistic with severe anxiety and finds the school environment very demanding and challenging despite a bespoke timetable. She likes using fidget devices/discreet toys & has small communication cards to hand when she can’t speak (selectively mute).

Amelia has a wicked sense of humour, is fiercely loyal and enjoys being part of our lively, crazy, busy family. She is a thrill seeker (rollercoasters & theme parks!) and although can come across as very shy and timid, she knows her own mind & isn’t easily persuaded if she doesn’t want to do something. All in all, something of a “pocket rocket!” 

Update 17th June 2021

Amelia has been very lucky to receive a beautiful blanket that was either knitted or crocheted for her, as well as her monthly goodies from Ellie which are always amazing! 
In  recent post she has received sweeties, chocolates and 2 Billie Eilish T-shirts from a a variety of people. There have been some lovely colouring things, scratch art, recipe ideas and stickers from various senders too, as well as some smellies for the bath. We have very much enjoyed the letters, postcards and drawings. Some writers are very good at creative pictures/designs!
George gets brilliant parcels from Sophie every month which he loves opening. He has also had some great postcards (a recent ‘ghosted’ train image in a library immediately comes to mind) and been included in gifts in Amelia’s parcels too –  such as a mindfulness colouring book and chocolate.  
Amelia has been back and forth to Great Ormond Street a number of times in recent weeks to see the neuromuscular team and gastro. Her neuromuscular assessment findings made us a bit sad as she has deteriorated in stamina and strength again and although her spinal curve has largely remained the same, evidence suggests that it will continue to deteriorate, especially as she grows. 
We are trialing some new medications to help with gastrointestinal issues. It is early days but we are cautiously optimistic that her pain is better controlled now and she is getting more sleep which is a definite bonus! 
Amelia is still on the CEV list and remained shielding until the end of March. She started back at school after the Easter holidays. We were a bit intrepid about her going back, especially with the ever new covid variants, but equally, her mental health is so important and having already missed so much of year 7, we felt that she should attend when she could. We hope Amelia will be vaccinated very soon, since the recent announcement that the Pfizer jab has been approved for those aged between 12-15.  
Amelia’s powerchair continues to make a huge difference to her independence and in enabling her to attend school and keep up with her contemporaries. She is only able to manage half days and then comes home for a big sleep but we are in the process of getting 1:1 home tuition for the afternoons. 
I am often found to be running after her frantically if we go out and about together, especially walking the dogs. Amelia only appears to know 2 speeds: off or full steam ahead. I can’t work out whether she is trying to keep me fit or kill me off altogether!
Her obsession with all things Billie Eilish remains and she was delighted to find out I had managed to get tickets for a show next year, especially after the last show had to be cancelled due to covid. It’s going to be a long wait till next June I think! 
Recently she has watched Stranger Things which she has really enjoyed and has also been experimenting with makeup, hair and nails. My “baby” is so grown up!  
Please can we say an enormous THANK YOU to everyone who has been so kind and generous to Amelia and George and also to those who have written some lovely comments in the post to me (Lisa) We feel spoiled and humbled by your generosity and that you take time and effort out of busy lives and schedules to think of us. Can I also apologise that Amelia doesn’t tend to write back even though so many of you have included addresses for correspondence. Her neuromuscular condition makes her extremely tired and weak and on top of school work, it is just a bit too much for her, but she really does love reading all the brilliant things you send

Update 9th February 2021

Amelia remains on the CEV list, so starting secondary school in September was very hard and hasn’t been the greatest experience for her. 
Amelia’s profound muscle weakness, fatigue resulting from her neuromuscular disorder and significant pain and gastrointestinal difficulties, were exacerbated by school attendance so she was unable to complete a full week throughout the term. 
In spite of this she was determined to work hard, do her best and had started to make a few friends, so there were some positives too. 
When shielding recommenced in the 2nd lockdown, Amelia remained at home, remote learning. She returned for the last 10 days of the school term for half days but even on a reduced timetable she wasn’t able to manage them all. 
We are looking at ways to reduce her hours in school but still enable her to learn and interact positively with her peers when she eventually returns to in class learning. 
Amelia’s adoration (obsession?!) of Billie Eilish continues and although the concert she was supposed to go to last summer was cancelled due to the pandemic, the entire household is given daily briefings of everything and anything Billie related. 🤣 
Amelia was lucky enough to receive a personalised message from Billie which put the biggest of smiles on her face. Thank goodness these days everything can be viewed in digital format so that she can safely watch it again and again and not wear it out! 
We are waiting on another admission to GOSH for more tests and to switch to jejunostomy feeding, which should take place sometime within the next month or so. 
George is growing like a weed and doing really well. You may or may not know he is a fellow ‘tubie’. BUT after some really difficult years, things have improved enough that his feeding tube is being removed in the near future!  
Given that one of his first recognisable baby words was CAKE, the fact that for a period of time he was solely reliant on jejunostomy feeding was quite a hard thing to accept and hugely affected his emotional and overall well-being. 
This turn about is so amazing and fair play to George for battling on, pushing through and finding ways to manage/control his symptoms and regaining the enjoyment of eating “normally” again.
Thank you to Post Pals and all those who support. We are extremely grateful and very much appreciate your kindness and generosity. 

Update 21st August 2020

After a lengthy admission at Great Ormond Street from May through July this year, Amelia has had to be brave and mature beyond her years. She lives with chronic pain which the gastroenterology team have explained cannot be completely controlled unfortunately, as the stronger medications interfere with gut function. Her days are taken up with multiple medications, fluid balances and physiotherapy regimes. Night times are interrupted by medications, pump feeds and frequent wakings due to pain. In spite of all this, Amelia remains her feisty, funny and determined self (depending on your perspective and if you happen to be her parent, this can be both a blessing and a curse! 😁)
Hospital appointments continue to roll in fast and furiously, albeit mainly conducted online. When it has been necessary to attend in person, we have been very impressed with the measures taken by the NHS to safeguard and protect all. Thank you.
September 2020 sees the start of secondary school. Amelia is excited but also nervous, (as am I!) but no doubt her peers are feeling the same. We know she will tackle this with her usual aplomb and our thoughts and good wishes are with all in this situation…..especially Amelia’s teachers: May the force be with you!!  
I can’t pretend I am not nervous with COVID still very much present, but balancing mental health, social and emotional needs and education alongside physical health is so vital and important, especially in this transitional year of secondary school.  We may have to review attendance as the year progresses but we are focused on the positives. 

Update 13th July 2020

A huge thank you to all the generous, kind and thoughtful people who have taken the time and trouble to send happy mail in all forms to Amelia & George B. It has been especially appreciated during COVID19 as no doubt like many other families, we are shielding. 

Amelia has had another lengthy stay in GOSH and we have only just come home. This admission has been very hard for many reasons and COVID precautions have meant that the usual distractions of visitors, therapy dogs, entertainment teams, even hospital schooling(!) have been much missed. On top of that, we are trying to get to to grips with being told that this is the best things can be and lower our expectations of Amelia being pain free. A hard thing for anyone to deal with, never mind at the age of 11.  Nonetheless in her indomitable way, Amelia will if not “Keep Calm,” certainly “Carry on!”       

Update 27th March 2020

Amelia has attended a number of appointments at Great Ormond Street in recent months. Her neuromuscular review was a mixed outcome: she has lost more movement range in her upper limbs with more contractures and joint immobility, developed spinal asymmetry, although fortunately this is mild at present and will continue to be monitored. 

Her stamina/power has reduced further and we are trying to focus on building up small activities where we can help her with this, but it is tricky as muscle weakness and fatigue are sending her round in circles. The physiotherapist has suggested that we look at piano/key-board play to help with hand/arm therapy…we don’t have anywhere to put a great big one so will be looking into options for something portable….and ear plugs!! 😁   

Gastro issues remain problematic but Amelia keeps smiling. Thank you to everyone who gets in contact with us 🙂 and does so much for the children. Very greatly appreciated.

Update 1st October 2019

The monarch feeding device Amelia had placed in July to try and prevent needing a 3rd gastrostomy re-site has not worked out as planned and she is still experiencing pain and gastric spasms. We meet with her surgeon late October to see what thoughts are now.  Despite the ups and downs, Amelia remains her usual sassy self….which is both a good and a not so good thing depending on when she is giving out the sass!

George is still having lots of issues with his PEG-J and we meet with tissue viability and gastro nurses next week.