Empowering Interaction and Independence: Jacob’s journey with Sanfilippo Syndrome and the Schuchmann Till standing frame

This case study explores the life of Jacob, a 16-year-old boy who lives in Nottinghamshire with his loving family: Mother Hannah, Father Chris, and three younger siblings Samual(14), Max (8), and Hope (2).

Jacob was diagnosed with Sanfilippo Syndrome which is a rare autosomal recessive genetic disorder just before his 3^rd birthday. Initially the family had some challenges in being taken seriously when highlighting Jacob’s developmental delays. His mother told us “it was lots of little things – we just knew’’ But it wasn’t until Jacob’s physical features started to change, that his consultant paediatrician started looking closer.

Sanfilippo Syndrome

Sanfilippo Syndrome, also known as Mucopolysaccharidosis Type III (MPS III), is characterised by the body’s inability to properly break down certain complex sugars, leading to the accumulation of harmful substances within cells. This disorder affects all bodily functions, including cognition, mobility, and behaviour. Sanfilippo Syndrome takes a toll on all aspects of a child’s life, including cognitive decline, limited mobility, and behavioural changes, the disease is often misunderstood and those affected need consistent and close monitoring, as well as having a complex medical & health regime. As the disorder progresses, individuals lose their ability to communicate effectively and become entirely dependent on caregivers for all aspects of life, requiring round the clock care for their complex needs.

Regular standing is important for Jacob

Jacob’s family are dedicated to ensuring his comfort and well-being, constantly seeking new ways to enhance his life and promote his independence. His family play a crucial role in his care and tell us that standing and mobility has always played an important part in Jacob’s life. At an early age, his mobility became a concern, having a standing frame available became imperative to the family. “We used to bring his standing frame home from school every weekend and holidays as we were not allowed a second one at home,” said Chris.

Till accommodates for Jacob’s complex needs

In June 2022 it became apparent that Jacob needed a new frame as he was quickly growing out of his current one. His mother reports “The frame he had, had worked well for him but it no longer suited his developing needs and increased risk from tissue breakdown and associated pain and discomfort”. It was at this point when Jacob’s NHS physiotherapist Laura recommended the Schuchmann Till as it would specifically accommodate for Jacob’s complex needs including the contractures in all four of his limbs. An assessment was arranged with Laura and Schuchmann’s product specialist Serena. Hannah and Chris loved the frame straight away “it just looked so comfortable for him which is so important specifically for Jacob who has tissue viability issues too,” said Hannah. “We loved the high low adjustment too as hoisting had become very difficult as the products got taller”. Jacob’s bedroom has quite a low ceiling so hoisting into high standing products can be quite hard.

The Till standing frame is an innovative assistive technology and offers users the opportunity to stand and interact with his environment thanks to the high low adjustment included as standard. The supine standing frame supports Jacob in an upright position, promoting weight-bearing through his legs and spine and accommodates fully for his contractures in his hip and knee. This not only aids in maintaining bone density but also positively effects his muscle strength and joint mobility. Importantly for Jacob, it also helps to ease pressure on the digestive and respiratory systems, which are both high risk areas for him.

Designed with versatility in mind, the Till allows for adjustments tailored to Jacob’s specific needs as he grows. Its’ user-friendly design enables Jacob to engage in activities at eye level with his family, strengthening bonds and emotional connections that are often limited in individuals with Sanfilippo Syndrome.

“The frame adapts to fit him perfectly, you can hardly see the frame at all, you only see Jacob, it’s so easy to get him into and has saved us so much time in such a busy household” says Chris.

Till accommodates for Jacob’s complex needs

Since incorporating the Schuchmann Till standing frame into his daily routine, Jacob’s life has witnessed a positive transformation. The ability to stand comfortably again has opened up new horizons for him, enabling him to participate in activities that were previously challenging or inaccessible. The frame has not only improved his physical health but also contributed to his emotional well-being by reducing feelings of isolation, helping him to engage in a wider range of activities.

Jacob’s journey with Sanfilippo Syndrome highlights the profound impact of assistive technologies on the lives of individuals with rare genetic disorders. The Schuchmann Till standing frame has become an important cog in Jacob’s daily routine, enabling him to have a different perspective and viewpoint in his home environment and fostering meaningful interactions with his family. Through continuous research and development of such technologies, we can provide individuals like Jacob with opportunities to lead more enriched lives, despite the challenges posed by their conditions.