Angelman’s syndrome is a rare genetic condition affecting around just 1 in 12,000 people worldwide. When your own child is diagnosed with it, your world can quickly become a small and lonely place. This is what happened to Thomas and his family when he was born in April 2004, as they embarked on an unexpected journey.

Diagnosing Thomas

When he was a baby, Thomas wasn’t reaching certain milestones and his parents, Clair and James, instinctively knew something wasn’t right. After struggling to latch for breastfeeding and being unable to swallow food properly, Clair and James sought medical help for Thomas.

Months of stressful days and restless nights passed, attending appointments with no answers, until Thomas was eventually referred to a neurologist. here, a blood test revealed he had Angelman’s syndrome – a diagnosis that instantly changed his parents’ lives forever.

Angelman’s syndrome occurs when a person has a specific gene abnormality impacting their physical development. This gene can either be missing or simply doesn’t work how it should. The absence of this gene affects the function of some parts of the nervous system, causing issues with movement, balance, communication, seizures, and scoliosis.

For Thomas, his condition means his needs are very complex. His diagnosis revealed that a whole chromosome was missing, not just a single gene, meaning a lot of information supporting Thomas’ development was missing from his DNA.

Armed with this information, Clair and James knew he would need ongoing care and support for the rest of his life, and they set to action making sure their beautiful baby boy was cared for as best they could.

A devoted family

Thomas needs support in every area of his life, so his parents have devoted themselves to caring for him in every way imaginable. With full-time jobs to fit around his needs, Clair and James found life was becoming very difficult – especially with the arrival of their second child, Freddie.

As he is immobile and uses a wheelchair, Thomas needs physical support in all areas of his life and relied on his parents to manually move him at any time – day or night. Feeling their own health and wellbeing suffering, Clair and James knew that being exhausted wasn’t allowing them to be a proper family.

With each passing year, Thomas’ clinical needs increased and became more complex. Clair and James knew they didn’t have the expertise to truly meet his evolving needs and decided to seek help.

Quickly referred for social care, they were confident the support they needed for Thomas was right around the corner and their dream of becoming a proper family was finally within their reach! But these hopes were soon shattered.

Thomas’ care was infrequent and unpredictable. Clair and James didn’t know from one day to the next if they would receive support. They also felt unsure that staff would be trained for Thomas’ specific needs. After years of no routine or regularity, Clair and James had no choice but to seek help elsewhere.

Meeting our expert team

Luckily, Clair and James discovered Children’s Complex Care! When Thomas was 12 years old, they were recommended our expert services and wasted no time contacting us for a meeting.

From day one, our team knew they could support Thomas with his complex health needs and help Clair and James re-establish themselves as Thomas’s parents – not just his carers.

We provided the young family with the consistency they craved, as well as an expertly trained team to deliver a care plan tailored to Thomas and his Angelman’s Syndrome, as well as the family’s needs.

A second family

When we first met Clair and James, we worked with them to understand what was important to Thomas’ wellbeing. We found that routine and familiar faces were central to his happiness and understood they held the key to them becoming a proper family.

Ensuring Thomas received high-quality care and support to manage the clinical aspects of his condition, we assigned a set group of Healthcare Assistants to establish familiarity and support relationship building with Thomas. We understood how important trust was to the whole family and they instantly felt reassured with regular visits from familiar people.

We’ve been so lucky to have virtually the same team for the past six years. They’ve built relationships with Thomas and there’s mutual trust and respect between all of us. They’re like a second family to him, which is wonderful. It’s a big deal to trust others with your home and your child.

Clair, Thomas’ mum

Clair and James credit Thomas’ amazing development to his diverse support team. Using a combination of clinical expertise with their unique characters, each member of Thomas’ team brings something special to his life. And by having familiar faces visit him every day, his team have got to know him as an individual and can instantly pick up his communication cues to identify his needs!

These relationships have made all the difference to Thomas, empowering him to feel safe and confident with the people around him.

All about Thomas!

Thomas’ team understand he’s unique and have worked with his parents to create a care plan that not only meets his healthcare needs but sparks his interests too!

A real people person, Thomas loves to be out and about in the hustle and bustle of his local community or going on fun adventures with his support team. They regularly watch action films at the cinema – Thomas is a huge James Bond fan – and have even taken him to Chessington World of Adventures!

Thomas also loves going to school. Naturally sociable, going to school means he gets to see his friends and other familiar faces on a daily basis. With the support of his Children’s Complex Care team, Thomas’ needs are fully supported while he’s away from home – empowering him to engage in exciting activities and make the most out of his day!

People with Angelman’s syndrome are often fascinated by water and this is certainly true for Thomas! Providing numerous sensory benefits, he loves to splash around. To commemorate his 18^th birthday, Thomas received his very own hot tub! It’s now his favourite place to spend quality time with his younger brother, Freddie.

Transitioning to adulthood

Thomas’ 18^th birthday was a significant moment for his parents. Filled with joy and jubilation, it also stirred up fears for Clair and James. Thomas had officially become an adult, so they feared his support would end and he’d have to transition from Children’s Complex Care into adult services.   

Facing a huge challenge of finding adult care that fully supported Thomas’s complex needs, Clair and James were deeply concerned how a big change like this might affect Thomas emotionally. The prospect of welcoming a new team would mean Thomas would have to start from scratch, building new relationships and trust with other people. And there were no guarantees he would receive the same level of expert care as he did with our team.

We understood how important Thomas’s relationships with his team were – not only for him but for his parents too. Devoted to Thomas’s wellbeing and happiness, we supported Clair and James through the process with their local authority, ensuring he could continue with our care as a young adult. And we’re pleased to say Thomas is still a firm part of the Children’s Complex Care family!

It was a huge deal for us to keep Children’s Complex Care as our provider. We feel so lucky to have this amazing team around us. It was a frightening time and we didn’t want Thomas to feel that fear and uncertainty too. We didn’t want to go through the process of trusting people again – which is even harder for Thomas to go through.

Clair, Thomas’ mum

Thomas’ family feel blessed to have him in their lives. With the support of their Children’s Complex Care team, they have formed a close, loving bond and have watched Thomas develop into a vibrant, young adult. Thomas’ support team are woven into the fabric of the family, fully committed to ensuring he and his family live healthy, happy lives.

Find out more

Our Children’s Complex Care team help families like Thomas’ navigate caring for a child with complex needs everyday. If your child, young person or client would benefit from specialist care at home, get in touch by filling out our quick form.

• 
• children's complex care