Amelia B

01 September 2019

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.

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