Home » Rare diseases » Raising the bar in rare disease patient care
Rare diseases

Raising the bar in rare disease patient care

rare diseases dr larissa
rare diseases dr larissa

Dr. Larissa Kerecuk’s enthusiasm for the UK’s first Rare Diseases Centre for Children in Birmingham makes a compelling case for more patient-centred approach to care.

Rather than bemoaning the lack of resources and the over complexity of dealing with rare diseases, Dr. Larissa Kerecuk (who is proud to be the Rare Disease Lead at Birmingham Children’s Hospital) is taking a completely new approach to rare diseases that starts with the patients themselves.

“So many families living with rare diseases feel isolated,” continues Dr. Kerecuk, who is also NIHR CRN (National Institute for Health Research Clinical Research Network) Specialty Lead for Paediatrics for the West Midlands. “Whilst treatment at our hospital is world-class, they rarely meet other families in similar circumstances, have multiple appointments where they have to explain the situation again and again, struggle to get treatments and often research participation is an afterthought. We have a great opportunity to provide a bespoke centre that meets their needs and improves quality of life for patients, whilst saving time and money for the NHS too.

”The result is the development of a pioneering £3.65 million centre that will not only be the first of its kind in the UK, but in the world. Fundraising began back in October 2015 when Birmingham Children’s Hospital Charity launched their Star Appeal, and the centre should be ready to welcome its first patients in December this year.

Pictured: Dr. Larissa Kerecuk playing with a child at the Birmingham Children’s Hospital

75% of all rare diseases affect children, and 9,000 children are already treated at Birmingham Children’s Hospital every year for over 500 rare diseases. The hospital is renowned for excellence within the field of rare diseases and Dr. Kerecuk believes that the new centre will provide improved multi-disciplinary support and pastoral care alongside fresh opportunities for research and international collaboration.

Patients have been involved in the planning process from the start, helping shape decisions on everything from the facilities they’d like to have to the way they’d like to receive care. As a direct result, the centre will focus on a multi-disciplinary approach, whereby children affected by similar conditions can visit the centre on the same day so they can see specialists from a variety of disciplines, share experiences and be put in touch with the relevant patient groups as well as be recruited to research registries and projects. If needed, there will even be teleconferencing facilities to involve specialists no matter where they are in the world.

For many children with rare disease there are few, if any, treatments so research is essential to advancing care. “At the moment families often don’t even know what research is taking place and if they do it’s often through rushed conversations in a corridor,” explains Dr. Kerecuk. “Through the centre, patients will have access to patient groups and we’ll also develop a dedicated research room. Whilst we may be the medical experts, we need to remember that the patients are the real specialists in terms of how it affects them daily.”

When it opens later this year, the centre will truly set a new standard in patient care and, Dr. Kerecuk hopes, lead the world in advancing care for children and young people with rare diseases.

Next article