Every year, Rare Disease Day is a global opportunity to shine a light on rare diseases, so that collectively we can raise awareness and bring positive change in the diagnosis, treatment and care for the 300 million people living with a rare disease worldwide.

This year, we were delighted to have Thines Ganeshamoorthy, Trustee at the Brittle Bone Society, and Professor Richard Keen, Consultant in Metabolic Bone Diseases, Royal National Orthopaedic Hospital (London, UK), join us at Mereo to discuss Osteogenesis Imperfecta (OI), a rare genetic bone condition affecting children and adults.

Taking time out of the day-to-day work to hear from the communities we serve brings us back to our foundations and reminds us why we come to work every morning.  This Rare Disease Day, together with our guests, we explored the evolving challenges of OI during childhood, puberty and adulthood and the often-difficult transition from paediatric to adult care – something that impacts many people with a rare disease.

Below are four take aways from the discussion. 

1. More awareness and understanding of OI is needed to ensure a prompt diagnosis

Thines was diagnosed with OI at 2 years old. His parents had arrived in the UK shortly before he was born, having escaped the war in Sri Lanka. Thines started experiencing recurring fractures and his parents sought help from the healthcare system.

Thines explained: “Speaking only Tamil, and with very limited translation services open to them, they entered a frustrating process of trying to understand what was happening.  This turned into a harrowing experience of them being falsely accused of child abuse and being investigated for upwards of six months. This awful experience only came to an end when I was brought to Great Ormond Street Children’s hospital and by chance fell and fractured while I was there, prompting a consultant to suggest that other causes of the fractures were worth investigating”, which culminated in the healthcare system accepting that I had a rare disease rather than being victim of abuse.”

This experience is not a one-off and, while hopefully becoming rarer, it remains a reality for some families. This is why it is so important that the rare disease community comes together to make sure experiences are shared and that everyone, from the public to GPs to specialist nurses and Consultants, understand more about conditions such as OI.

Professor Keen talked about the need for orthopaedic surgeons and healthcare professionals working in A&E and to be more aware of rare diseases that affect the bones. “A lot of people will present in A&E; and orthopaedic surgeons may be seeing kids who are experiencing fractures. Although safeguarding procedures are vital, we also need people to think that this child might just have a rare disease and also to investigate this to speed up diagnosis.” 

2. Care of children with OI is comprehensive in the UK, but the experience can be isolating

In England, there are good care pathways for children with OI.  Children – and their parents – are in the care of and are supported by a consistent multi-disciplinary team and, with the time they spend together, they build up a lot of trust.

However, the experience of having a rare disease and needing to spend long periods of time in hospital can be isolating. Thines said: “Before 16 I felt very under-confident. I didn’t have social engagement with peers due to OI. I would spend between six months and two years in a hospital room, separated from the other children. I didn’t go to a mainstream school until I was 8 or 9 and didn’t speak English until then. I grew up with adults being my friends and felt disjointed from the rest of the world and particularly from other children.”

He continued: “I felt I was at the behest of medical professionals and the world to get where I wanted to be. It was only when I got into charity work that I understood my rights and that my voice actually mattered. I started educating myself and began to understand that this condition need not define my life. My first young people event at the Brittle Bone Society was so empowering. I felt understood in all my challenges; and that shared experience meant we could support one another.”

3. The transition to adult care can be disjointed, but does provide an opportunity for empowerment

While the care of children with OI in England is well-structured around four highly specialised tertiary care centres, which are centrally funded by NHS England, the transition to adult services can be a patchy and disjointed experience across the country. Yet this is a crucial step for people with OI, who will be spending the majority of their lives in the care of adult consultants. 

That’s why a number of hospitals have set up transition services with their paediatric counterparts: “We aim to start working on the transition around 13-14 years and we meet in person with the paediatrician, the young adult with OI and their family,” explains Professor Keen. “We often need to manage the relationships with parents, who struggle to let go of their children, especially after protecting them for so many years. We need to bring them all on a journey, building trust and empowering the young adults to take ownership of their care. We want to get their feedback, so that the care can be built around their needs. And we want to work with our secondary and primary care counterparts, to ensure they have the local support they need.” 

Primary and secondary care are where the coordination can prove difficult to achieve, as in Thines’ experience: “My tertiary care transition was smooth, but it’s at local level, with the services I would use on a regular basis, that I felt the support was failing. Once my local paediatric consultant retired, I was left with no consistent care, having to repeat myself with ever-changing consultants and having to fight tooth and nail to get access to physio and other basic services. This was all happening at a time when I was leaving my family for the first time and starting uni. This lack of support made me feel even more disabled. It felt like I was asking for too much, but really I was just asking for support to live a fair and equitable life.” 

This experience led Thines to join the NICE Guidelines Development Group (GDG) for the Transition from Children’s' To Adult Services, released in 2016. The group came up with four key recommendations:

• Starting the conversations early, around 13-14 years;

• Having a key worker to support the young person and advocate for them;

• Setting up a personal folder, with all the key clinical information and the priorities of the young person, so that care can be personalised; and

• Working closely with primary care. 

Thines is passionate about people with OI being involved in the development of care guidelines, the creation of care pathways and the design of clinical trials. Through his role with the Brittle Bone Society, he is determined to ensure all voices of people with OI are heard: “We don’t want to just focus on loudest or most confident, we want to be there for everyone. If we make society more inclusive with inclusive design and inclusive thinking, it will make it better for everyone, not just people with a disability.”

4. If we had one wish for the future of OI…

Personalisation would be the top priority for Thines: “Centring care around the person in front of you. Giving them the benefit of your time, your expertise. Getting other healthcare professionals involved to deliver personalised, consistent care. Making them feel like they have someone who understands, because OI can be very isolating.”

“The one thing I would like to have is more time, so that I can better understand and look after the needs of people with OI”, added Professor Keen. “A ten or 15-minute appointment cannot give justice to someone with such a multi-faceted condition. It is simply not enough time to listen, be compassionate, and allow us to drive quality care for everyone.”

A more coordinated, personalised approach to care is what both the OI community and healthcare professionals are working to achieve. A future where all people living with OI – no matter what their age – have equal access to the information and knowledge they need and to good quality care that is centred around their needs, be they children, adolescents or adults.

For further highlights from the discussion: 

For more information on OI, and to get support, you can visit the Brittle Bone Society, the leading UK charity, or the Osteogenesis Imperfecta Federation Europe (OIFE) and Osteogenesis Imperfecta Foundation (OIF) websites.