Rare Diseases and Orphan Drugs

Biography

Biography: Larissa Kerecuk

Abstract

At BWCH, everything we do is aimed at improving the care delivered to our patients. Given that we treat approximately 9000 patients with over 500 different rare diseases, it was very important to us to develop a rare disease strategy to address the keys improvement areas highlighted by RDUK. Therefore, BCH are developing the first holistic Paediatric Rare Disease Centre where multidisciplinary and multispecialty rare disease clinics will take place with coordination of care, peer support and better access to research, information and treatment. We are, and have been, consulting with patients and patient support organisations throughout the process.  In the initial design process, families have told us that a large waiting area where they can interact with each other and patient support organisations is important so we have incorporated this into the design. We have also included a kitchen for our families to improve the quality of their stay as well to provide a facility for them to feed their children any special feeds that they are often on. Several of our patients have multiple sensory deficits, learning difficulties and/or may have autistic spectrum features so we have also ensured that we have a sensory room and a “chillout room”.  As many of our patients and their families are wheelchair bound, all our doors are wider and the toilets are suitable for all our patients – including an adult changing room.

Whilst the rare disease centre is being built, we have applied for funding from the Roald Dahl Marvellous Children’s Charity to fund 3 posts to help to coordinate the care of children with rare diseases. We held a very successful Rare Disease Engagement Events which was very well attended by patients and families with a wide range of rare diseases. The aim of the days was to co-design the posts so that we address the concerns and needs of our families in a way that we can improve their quality of life. We now have 2 Roald Dahl Specialist Rare Disease Nurses and and one Roald Dahl Rare Disease Transition Sister.

Making a diagnosis is very important which is why we are also involved in the 100 000 Genome Project and we are actively recruiting families to this. We aer working with SWAN UK and have developed a bespoke clinic at BCH Rare Disease Centre for children with syndromes without a name.

At BCH, we believe that the first holistic paediatric rare disease centre will help to re-think the care we deliver to patients from a one-size fits all to a patient-centred approach in which we help patients and families with rare diseases lead the best quality of life possible thereby enabling to live their lives to their full potential. We envisage that the rare disease service will lead to development of  patient guidelines to empower local teams. Transition to the UHB Rare disease centre will also make the service seamless.

We are also making research an integral part of the care of the children affected with rare diseases and we are able to recruit and discuss research at the same clinic appointment.

The World’s First Children’s Rare Disease Centre will open in December 2017 at Birmingham Children’s Hospital with a new vision in integrated healthcare delivery.