Grouping appointments into one day has reduced visits to the emergency department and hospital admissions for patients with Prader-Willi syndrome

Children with rare diseases must frequently go to the hospital to be seen by various departments or specialists, given that their disease so often presents in diverse forms and affects different organs. For patients with Prader-Willi syndrome, they must be seen by Neurology, Genetics, Endocrinology, Ophthalmology, Traumatology, ENT and Dentistry.

Moreover, at some point in their development or over the course of their disease, they must also be seen by Nutrition, Gastroenterology, Surgery, Pulmonology or even Mental Health professionals.

For the last seven years, professionals at the SJD Barcelona Children's Hospital have been treating children with this disease, starting by promoting initiatives aimed at grouping appointments into one day and avoiding unnecessary journeys. ‘We wanted these children to have as normal a life as possible, and that they did not miss too much school,’ explains Mercè Bolasell, Patient Manager in the Genetics Department and the Pediatric Institute for Rare Diseases (IPER) at SJD. ‘We also want to help parents so they do not need to keep asking for time off work to bring their child to appointments. We must also keep in mind that some of these patients do not live in Barcelona, but elsewhere in Catalonia, or even elsewhere in Spain. So much travelling has a huge impact on their daily lives.’

Director of IPER, Francesc Palau, explains that ‘the initiative is helping a small portion of the patients with rare diseases that we see at the hospital, but we hope to be able to slowly start offering it to other patients.’ This will be possible in the new SJD Únicas facility which is being built close to the hospital, concentrating all of the research and healthcare areas involved in the diagnosis and treatment of rare genetic and immune diseases into one place.

Wards in the new facility have been specially designed to make it easier for patients to attend comprehensive appointments with professionals from various departments, all in the same day and place.  

Evaluation of the initiative

The primary results from this initiative are very positive. A study analysing healthcare data of patients with Prader-Willi before and after the launch of this appointment grouping initiative has shown that not only does it help improve and balance family time, but it also allows for better healthcare provision for these children, reducing the number of appointments and admissions to hospital, visits to the emergency department and operations.

In 2015, 44 patients with this syndrome were seen at the hospital. Of this total, 31 patients attended the emergency department and 13 were admitted to hospital. There was a total of six surgical operations, 147 tests and 375 outpatient appointments. Seven years later, in 2022, after the launch of the appointment grouping initiative, or functional plan, the number of visits to the emergency department had fallen (25), as well as hospital admissions and surgical operations (four cases each). ‘Patients are managed much better now, and we can detect any destabilisations much sooner. We see them more on an outpatient basis and carry out more tests, but there are fewer acute episodes, which is the most important thing,’ points out Bolasell.

Functional plans and dedicated disease days

Currently, there are two initiatives in motion to help families of children with rare diseases better manage their time. One of these, given the name ‘Functional plan’, consists of scheduling patients with a genetic developmental disease for a specific day of the month, so that all relevant specialists (Genetics, Neurology, Endocrinology, Hematology, ENT, Ophthalmology, Dentistry, Immunology) involved in their treatment can see them on the same day. 

This initiative—which, for now, involves patients with Prader-Willi, Noonan syndrome and DiGeorge syndrome—has had a huge impact on the health and wellbeing of these children. They have managed to reduce the number of visits to the emergency department, as well as the number of hospital admissions and surgical operations, while also improving their quality of life.

Plus, these functional plans have allowed specialists to broaden their expertise and knowledge of the disease. ‘Now we have expert professionals for each syndrome. We have an ophthalmologist who is an expert in Noonan syndrome, an endocrinologist who is an expert in Prader-Willi. It is always the same specialists who see these patients. This is also hugely positive, as they are in touch with expert staff from other departments, which lets staff learn from each other,’ adds Bolasell.

In parallel to the functional plans, IPER staff have also launched the 'Day For’ initiative: days for when, for whichever reason, it is not possible to bring together staff from all of the needed departments In these cases, patients with a specific syndrome are scheduled on the same day with Genetics and/or Neurogenetics.

This initiative really helps families keep in contact with one another. ‘We are talking about patients with a rare or extremely rare disease, for whom it is extremely hard to meet other families in the same situation. Now, since we schedule all of the patients with a specific syndrome on the same day, their families can meet each other in the waiting room, where they can chat and share their experiences. More than just acquaintances have been made in the waiting room,’ highlights Bolasell.

More than 400 families have benefitted from the functional plans and ‘Days For’ days throughout 2023. Aside from the functional plans for Prader-Willi syndrome, Noonan syndrome and DiGeorge syndrome, there have been 47 days for the following syndromes: Coffin-Siris, Silver-Russell with referring endocrinologist, Smith-Magenis, Wolf-Hirschhorn, Sotos with endocrinologist, Pitt-Hopkins, Trichorhinophalangeal syndrome (TRPS1), CHAMP1, SETD5, Williams, Renpenning, DDX3X, NFIX, Cardio Facio Cutaneous, Wideman-Stein, Kabuki, 18p, Kleefstra, Charge, 1q21 deletion, SATB2 (Glass syndrome) combining appointments with Dentistry, MECP2 deletions jointly with Neurology and Immunology, 16p11 deletion, Koolen de Vries, 1q44 deletion, Rubinstein-Taybi, Renpenning, USP9X, PURA, Cornelia de Lange and Mowat-Wilson.