It usually takes a long time before an adequate diagnosis of a rare disease is made. After all, it is not only primary care physicians who lack specific knowledge about these diseases. Yet it is primary care physicians who are the first to see children and adults with the appropriate symptoms. In order for general practitioners to be more confident in this area in the future and to be able to act as a competent partner to the families concerned, more information and signposts are needed.
The fact that the general practitioner cannot know about the multitude of symptoms of rare diseases is often not realized by his clientele. The consequences of an incorrect or late diagnosis, on the other hand, are enormous for the patient. If, in addition, this affects a child and the child suffers from unknown symptoms, the family doctor as the first point of contact is often hardly in a position either to make the diagnosis or to answer the numerous questions of the parents. Thus, the relationship of trust is severely strained. How can the family doctor score as a competent partner in this case?
Inform and tell stories
The fact that affected children and their siblings can be included in the information about diagnosis and therapies is not yet known to many. Especially in the case of rare diseases, the direct environment is strongly involved in the diagnosis and is decisive for the course of therapy. The information is best packaged in easy-to-understand stories.
Because it is often such true-to-life stories that can introduce children and young people to the subject of illness and necessary therapeutic steps. This can be used to explain to them their own situation, that of their siblings or of other children. Storytelling, for example, takes away the fear of upcoming examinations, which few parents know or can explain.
The book “Hase und Bär im Kinderspital” (“Rabbit and Bear in the Children’s Hospital”) from the UKBB in Basel offers good support for storytelling. It describes everyday life for children and special examinations in the hospital. This makes children feel more at ease, since they are now involved in the action to some extent.
“Just like you and me”
The comic children’s book “So wie Du und Ich” (Like You and Me) from Orphanbiotec shows that children can also be taught about rare diseases in a playful way. In this book, children aged three and up are taken on a virtual journey across continents by the little dog Cuba. Along the way, Cuba and her friend, the giant otter Ups, meet eleven other animals, all suffering from a rare disease.
The true-to-life drawn and funny stories let children learn about brittle bone disease, moyamoya, muscular dystrophy, amyloidosis and other diseases by example. Through the stories, they experience that the little comic heroes of the book – despite a difficult diagnosis – make friends, are motivated and are not alone. This promotes courage to face life in the affected children and strengthens social competence in healthy children. It thus also helps to strengthen resilience in the family environment.
Infoboxes for each disease provide adolescents and adults with additional information about the diseases described. The book is the first of its kind in the world and also provides primary care physicians and pediatricians with a bridge for the care of their young patients. In this way, the first hurdles can be overcome and the doctor becomes a trusted partner again. The well-known physician and actress Dr. Maria Furtwängler has taken over the sponsorship of the children’s book.
Service
Some German and Swiss competence centers, university departments and physicians already offer the book to their young patients.
The low price of CHF 10 makes this book affordable for small budgets, keeping the threshold low to learn new things about a selection of rare diseases. Practices can obtain it in a book display that is well suited for presentation. You can order the book and the book author at: buchbestellung@orphanbiotec.com.
More information:
www.sowieduundich.org or www.or phanbiotec-foundation.com
HAUSARZT PRAXIS 2014; 9(2): 41-42
