Grand display of color across Karolinska University Hospital – part of global manifestation for rare diagnoses

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“We want to raise awareness of rare diagnoses in this spectacular way. We’re doing this within the scope of one of several national and international networks working to generate greater understanding of rare diagnoses and to improve the care of the patient population,” says Rula Zain, National Coordinator for the European Reference Networks (ERNs).

Between February 23 and 28, Karolinska University Hospital will be hosting an illuminating activity – in more than one sense. The spotlight will be on rare diagnoses, which in Region Stockholm are based at the Centre for Rare Diagnoses at Karolinska. Over the course of six days, the hospital buildings will be illuminated with a grand display of color in both Solna and Huddinge. At the same time other buildings around the world will join in by being lit up on International Rare Disease Day, which this year falls during the same period, on 28 February.

“It’s important to highlight our patients with rare diagnoses, as well as their families. This is a group of individuals that often falls between the cracks in the healthcare system. Because they often suffer from a wide variety of severe symptoms, they are often passed around the healthcare system. They rarely have a fixed point of contact or someone to take overall responsibility for their care,” says Rula Zain, associate professor of chemical biology and deputy director of the Centre for Rare Diagnoses at Karolinska University Hospital.

In Sweden, a diagnosis is considered rare when it occurs less frequently than in 1 in 2,000 people. The relatively small size of the patient population for each diagnosis requires national and international coordination and collaboration on education, care and research regarding patients with rare diagnoses. Of the 24 European Reference Networks (ERNs) for rare diagnoses, Karolinska University Hospital is a member of as many as 20, so it was natural for the hospital to take part in the activity of illuminating its buildings for the patient group.

Rula Zain, biträdande ledare för Centrum för sällsynta diagnoser.

“As we’re a highly specialized hospital with leading-edge expertise in both diagnostics and treatment, it’s natural that we should help by passing on our knowledge, while at the same time we need to acquire new knowledge to continuously develop our expertise in the field. The 20 international reference networks of which the hospital is a member include no fewer than 45 multidisciplinary teams of experts from the hospital,” says Rula Zain.

There are a variety of reasons why collaboration nationally and across borders is particularly important for rare diagnoses. There is a lot of fragmented knowledge, both physically in different regions and countries but also within the different specialties.

One of the key sub-objectives of the reference networks is to develop processes for an appropriate transition from pediatric to adult care for individuals with rare diagnoses. This is often a big and complex step, as patients’ lives are interspersed with many different health care contacts and visits to the doctor. The fact that in many countries pediatric care is separate from adult care does not make it any easier.

“Through the networks, we will be able in the long term to help build knowledge, information and registers to ensure equal healthcare while advancing research and education on rare diagnoses. Collaboration with patient associations is crucial, as together we can identify challenges and future goals,” says Rula Zain.

She goes on to say that the challenge and goal of the European networks is to build joint structures.

“We’re working for better, more equitable care at national and European level. Taking new steps forward in care and research in the field of rare diagnoses is not only life-changing for this patient group, but will also help us identify keys to new care processes and treatment methods for more common diagnoses,” says Rula Zain.