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
At 10 weeks old a 3 x daily therapy program was put in place to develop Amelia’s upper limb range and improve movement. This took approximately 30 mins each time and caused her to scream in pain for extended periods of time.
Until the age of 15 months we attended the Children’s development centre 3 X a week for physiotherapy and occupational therapy.
At 4 months Amelia had had 3 chest infections and was assessed for swallowing and feeding issues. She was diagnosed with muscle related fatigue, therefore an unsafe swallow at times and risk of aspiration pneumonia. By 6 months Amelia needed nutritional support and at 15 months she had a naso-gastric feeding tube placed.
Due to severe reflux, repeated chest infections and failure to thrive, aged 2 she had surgery to place a gastrostomy feeding tube and a Nissen's fundoplication wrap to prevent refluxing into her lungs.
Aged 3, 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 readmitted a few weeks later for a lengthy hospital stay and further surgery. Her recovery took over 6 months.
In recent months, Amelia has again experienced gastric spasms and an investigative procedure revealed this requires intervention. In an effort to prevent a further re-site, Amelia will be undergoing a procedure under anaesthesia to site a different feeding device. This will need to be replaced under anaesthetic every 8-12 months going forward. If this is unsuccessful she will require more invasive surgery.
Amelia has complex gastrointestinal and bowel difficulties caused by dysfunctional movement leading to frequent pain and severe constipation. As a result Amelia lost sensation.
In 2016, Amelia had an ACE bowel stoma formed to prevent continence issues. We perform a nightly regime to flush through the bowel which takes approximately 2 hours to complete.
Unfortunately Amelia’s bowel stoma has prolapsed on 3 occasions, each requiring surgical intervention. This means her site leaks blood and stool and causes pain. We have to clean and dress it, sometimes repeatedly throughout the day.
Amelia is due to have further surgery in the near future but needs an in-patient review at GOSH on the gastro-intestinal ward first (date TBC but considered urgent). Depending on the outcome of this, Amelia may need to have a colostomy or ileostomy stoma bag placed. In any event she will require surgical management of some sort to address longer term.
Amelia attends main-stream school with practical and physical support. She is being taught to use a scribe, dictate and work on 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 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 day time 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 takes 10 different medications up to 4 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.
Amelia needs support with all aspects of personal care. She does not have the upper limb range or stamina to wash or dry her hair, brush her teeth etc. Changes in air temperature or water temperature affect her muscle tone and can mean she is unable to stand or walk. We have a stair-lift, bath chair, self cleaning toilet and numerous equipment to promote Amelia’s independence and aid her care needs.
Amelia is under the community nursing team, paediatrics, speech and language, dieticians, opthamology, orthotics, endocrinology, neuromuscular, occupational therapy, physiotherapy, surgical, gastroenterology and respiratory care management. Her tertiary care is by Great Ormond Street with local support from Harrogate Hospital and emergency admissions to Leeds or York.
In the last year Amelia has been unable to manage certain activities that she was previously able to do. This was highlighted in muscle strength testing at GOSH in October 2018. It is unknown as to what the significance of this is but in view of the deterioration in strength and abilities, Amelia is being tested for a mitochondrial disorder. This has a potential impact on life expectancy.
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.
Thank you very much for choosing Amelia
Sandra, Shefford, England
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