{"id":36860,"date":"2023-11-01T12:05:59","date_gmt":"2023-11-01T11:05:59","guid":{"rendered":"https:\/\/www.schuchmann.de\/?p=36860"},"modified":"2023-11-01T12:09:03","modified_gmt":"2023-11-01T11:09:03","slug":"jacob-till","status":"publish","type":"post","link":"https:\/\/schuchmann.de\/en\/jacob-till\/","title":{"rendered":"Empowering Interaction and Independence"},"content":{"rendered":"

Jacobs journey with Sanfilippo syndrome and the till. standing frame.<\/h1>\n

This case study explores the life of Jacob, a 16-year-old boy who lives in Nottinghamshire with his loving family, consisting of his mother Hannah, father Chris, and three younger siblings Samual (14), Max (8) and Hope (2).<\/p>\n

Jacob was diagnosed with Sanfilippo Syndrome which is a rare autosomal recessive genetic disorder just before his 3rd<\/sup> birthday. Hannah told us that initially the family had some challenges in being taken seriously when highlighting Jacob\u2019s developmental delays \u201cit was lots of little things \u2013 we just knew\u201d she told us but it was when Jacob\u2019s physical features started to change that his consultant paediatrician started looking closer.<\/p>\n

\n

About\u00a0Sanfilippo Syndrome<\/h4>\n

Sanfilippo Syndrome, also known as Mucopolysaccharidosis Type III (MPS III), is characterized 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\u2019s 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.<\/p><\/blockquote>\n

Regular standing is important for Jacob<\/h4>\n

Jacob\u2019s family has been dedicated to ensuring his comfort and well-being, constantly seeking new ways to enhance his life and promote his independence. His family plays a crucial role in his care and told us that standing and mobility has always played an important role in Jacob\u2019s life from an early age. At an early stage his mobility became a concern, having a standing frame available became imperative to the family \u201cwe used to bring his standing frame home from school every weekend and holidays as we were not allowed a second one at home\u201d said Chris.<\/p>\n

till.<\/em> accommodates for Jacob\u2019s complex needs<\/h4>\n

In June 2022 it became apparent that Jacob needed a new frame as he was quickly growing out of the one currently in situ. \u201cthe 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\u201d Hannah told us. It was at this point when Jacob\u2019s NHS physiotherapist Laura recommended the Schuchmann till.<\/em><\/a> as it would specifically accommodate for Jacob\u2019s complex needs including the contractures in all four limbs. An assessment was arranged with Laura and Schuchmann\u2019s product specialist Serena and Hannah and Chris loved the frame straight away \u201cit just looked so comfortable for him which is so important specifically for Jacob who has tissue viability issues too\u201d said Hannah. \u201cWe loved the high low adjustment too as hoisting had become very difficult as the products got taller\u201d Jacob\u2019s bedroom has quite a low ceiling so hoisting into high standing products can be quite hard.<\/p>\n

The till.<\/em> standing frame is an innovative assistive technology and offers users the opportunity to stand and interact with their 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 affects on his muscle strength and joint mobility importantly for Jacob it also helps to ease pressure on the digestive and respiratory systems too which are both high risk areas for him.<\/p>\n

Designed with versatility in mind, the till.<\/em> 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.\u00a0\u201cThe frame adapts to fit him perfectly, you can hardly see the frame at all, you only see Jacob, it\u2019s so easy to get him into and has saved us so much time in such a busy household\u201d Chris told us.<\/p>\n

Positive Impact on Jacobs life<\/h4>\n

Since incorporating the Schuchmann till.<\/em> 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 wellbeing by fostering and reducing feelings of isolation, helping him to engage in a wider range of activities.<\/p>\n

Jacob\u2019s journey with Sanfilippo Syndrome highlights the profound impact of assistive technologies on the lives of individuals with rare genetic disorders. The Schuchmann till.<\/em> standing frame has become an important cog in Jacobs daily routine, enabling him to have a different perspective and view point 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.<\/p>\n","protected":false},"excerpt":{"rendered":"

Jacob was diagnosed with Sanfilippo Syndrome. The \u201ctill.\u201d standing frame has become an important cog in his daily routine.<\/p>\n","protected":false},"author":17,"featured_media":36878,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[524],"tags":[716,1370,1468,1472,1478,1654],"class_list":["post-36860","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news-en","tag-till-en","tag-hilfsmittel-en","tag-inklusion-en","tag-versorgung-en","tag-therapie-en","tag-stehen-en"],"yoast_head":"\nEmpowering Interaction and Independence - Schuchmann GmbH & Co. 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