Case management
and digitization
6. KMSK knowledge book "Rare diseases - case management and digitalization ease the burden on parents"
The 6th KMSK Knowledge Book is based on a personal experience of Manuela Stier. As moral support, she accompanied an affected mother to the round table of a children's hospital. What became apparent was that the interaction and communication between the twelve different players from medicine, education, Spitex and therapy was unsatisfactory, information was sometimes not passed on or was passed on inadequately and there was no one to coordinate the complex case. As a result, the mother suffered a loss of trust, felt that she was not being taken seriously and the potential for conflict and frustration increased.
It must never be forgotten how much knowledge and experience affected parents gain and that they are the true experts on their child. They are therefore also the most important part of the team and need to be supported and encouraged in this. To do this, however, they need improved structures and support services. And this is where politics is particularly called upon. For optimal care and support, the healthcare system and other areas of social life (school, work, leisure) must be more geared towards the needs of affected families. And this can only succeed with a functioning network between doctors, therapists, insurance companies, educational institutions and other areas that are important for the quality of life of those affected. At the same time, digital documentation is needed that is accessible to all those involved; knowledge and communication are required. After all, good networking can ultimately only work with good communication.
In the current knowledge book, we therefore address the challenges in the interaction between parents, doctors and other stakeholders, allow affected families and specialists to have their say and discuss possible solutions.
Our dialog groups are families, relatives, gynecologists, midwives, pediatricians, general practitioners, specialists such as geneticists, ophthalmologists and otologists, therapists, psychologists, children's hospitals, teachers, health insurers, health policy makers, researchers at universities, pharmaceutical companies, IV employees, hospital staff, health authorities, trainees in the health sector and the general public. We want to provide them with more knowledge on the subject of "Rare diseases in children".
SincerelySupport association
for children with rare diseases (KMSK)
Manuela Stier, Founder and Managing Director
Prof. Dr. Dr. Christian Wunderlin, Managing Director of Dienigma AG and member of the Board of Directors
We are delighted to be able to offer the KMSK knowledge books "Rare Diseases" free of charge as print copies and for download thanks to the generous support of long-standing partners.
. KMSK Knowledge Book (2023) Download
"Rare Diseases - Case Management and Digitization Relieve Parents
"
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Print run
12,000 copies German
GREETINGS: EVA LUISE KÖHLER, EVA LUISE AND HORST KÖHLER FOUNDATION FOR PEOPLE WITH RARE DISEASES
Hand in hand for the orphans of medicine
In order to sustainably improve the care of the approximately 30 million children, adolescents and adults with rare diseases in Europe, more needs to be done in three areas: in research, the education and training of medical professionals and the design of care structures. These three areas must be closely interlinked to ensure a comprehensive transfer of knowledge. Only through coordinated cooperation between many disciplines, across locations and even national borders, can diagnostics be accelerated, care be well organized and translational research be made possible.
STATEMENTS: KMSK ADVISORY BOARD MEMBER & AFFECTED MOTHER, DANIELA SCHMUKI
Families have a need for support, but the solution is unclear
Who takes on the organizational tasks for a sick or impaired child? Unfortunately, I don't know of a one-size-fits-all solution. As different as illnesses are, as individual is the corresponding coordination - at times almost a full-time job and in constant flux. Just managing the various departments within the hospital is a challenge, let alone the interaction with external doctors and therapists, care facilities and the school system. Until now, this Herculean task has fallen to the parents as a matter of course.
STATEMENTS: VICE PRESIDENT OF PEDIATRICS SWITZERLAND, PROF. DR. MED. NICOLAS VON DER WEID
How the flow of information for pediatricians can succeed
Children with rare diseases generally need medical help from various specialists. These specialists often work in a larger cantonal or university children's hospital. Sometimes the experts providing care are spread across several hospitals. This complicates the flow of information and underlines the need for good communication between them. The pediatricians in private practice play a central role in coordination and in summarizing and passing on information to the family.
STATEMENTS: CO-PRESIDENTS KINDERSPITEX SWITZERLAND, LUCIA VOGT & JOSIANE SEILER
Kinderspitex as a central link in the network
A network implies that the players involved work well together in order to offer security and trust to the people who depend on the network. If we as Kinderspitex see ourselves as a central link in this network, this requires us to act responsibly. After all, when dealing with people suffering from rare diseases, individual care is not only a quality feature of family-centered care, it is absolutely essential in order to meet the needs of families.
STATEMENTS: HEAD OF DEVELOPMENT AND PEDAGOGY (ZHAW), PROF. DR. VERONIKA WALDBOTH
Interprofessional care for rare diseases
Nurses can take on important roles in the care of children with rare diseases. In their basic training, they are primarily trained in frequently occurring diseases and acquire skills in basic care techniques. Information sources such as knowledge books and the knowledge platform of the Förderverein could be used to raise awareness among carers.
STATEMENTS: HEAD OF CLINICAL APPLICATIONS AT THURGAU HOSPITAL, CHRISTOPH KNÖPFEL
Federal law on the electronic patient file
A healthcare professional asks us the same question for what feels like the hundredth time. She talks about a diagnosis that we have never heard of. We are approached by a healthcare professional we don't know. These are recurring situations for parents (guardians) of children with rare diseases.
STATEMENTS: DOCTOR, ENTREPRENEUR & MEMBER OF THE KMSK ADVISORY BOARD, ANDREAS JUCHLI
People are at the heart of everything we do. Digital tools provide support.
Regardless of the reference, the profession, the role we have - caring for people is central to what we do. Especially when it comes to people who are faced with special challenges as they grow up. The Förderverein für Kinder mit seltenen Krankheiten provides an enormously valuable service to connect people and do good for children with rare diseases.
RESEARCH PROJECT BY BACHELOR STUDENT: JIMMY HEINZMANN & DR. FERNANDO CARLEN
Qualitative document analysis of all KMSK knowledge books "Experiencing positive life situations of parents"
In a bachelor thesis, all interviews and stories with parents printed in the KMSK knowledge books were analyzed and the positive life situations were identified. The thesis examines the question of what parents experience as positive and what keeps them healthy and how parents can be supported by care professionals.
STUDY CASE MANAGEMENT: HEAD OF PEDIATRIC ADVANCED CARE TEAM & ADVISORY BOARD KMSK, DR. MED. JÃœRG STREULI
Improve cooperation, think in networks
A rare disease presents a child and their families with major challenges. These tasks can be so extensive that we have to tackle them together and in good time, as the articles in this KMSK Knowledge Book show impressively and vividly. "We" are the children, their families and a whole network of people with experience, knowledge and 108 parents and members of the Association for the Promotion of Children with Rare Diseases on the subject of case management and rare diseases.
AFFECTED FAMILY - CHALLENGES FOR PARENTS: THREE CHILDREN WITH DIFFERENT RARE DISEASES
When a mother with three affected children needs to make her voice heard
If clinical pictures are outside the norm and different experts are responsible for different phenomena, it becomes particularly complex for the parents. This is when interdisciplinary cooperation between all those involved is crucial - for making a diagnosis and finding the optimal therapy setting. The story of Evelyn and Jero with their four children illustrates this impressively.
AFFECTED FAMILY - COMMUNICATIVE CHALLENGES AFTER THE DIAGNOSIS: JIMMY - IMERSLUND-GRÄSBECK SYNDROME
A "complicated eater" turns out to be a terminally ill boy
Jimmy is 4 years old when he is admitted to the Eastern Switzerland Children's Hospital as an emergency case and with the last drop of blood in his body. His life hangs by a thread, which only fails to break because his mother bursts her collar after two years of flying blind. Nevertheless, it took another four years before the diagnosis was made. Today, Jimmy leads a largely carefree life.
COMMUNICATIVE CHALLENGES AFTER THE DIAGNOSIS: PROF. DR. MED. JOHANNES ROTH, HEAD OF THE CENTER FOR RARE DISEASES, LUZERN CHILDREN'S HOSPITAL
Importance of communication between parents and doctor
The relationship between doctor and patient is fundamental to the course of treatment and is decisively influenced by communication. The basic prerequisite for a positive relationship is therefore successful communication. It is important to be aware of the basic principles and possible difficulties in communication.
AFFECTED FAMILY - EXCHANGE BETWEEN AFFECTED FAMILIES: MIRA - NO DIAGNOSIS
Strong together: a path full of love and hope
5-year-old Mira (undiagnosed) has a fighting heart, just like her parents. In a world full of challenges, the family relies on a network that goes far beyond sharing. It provides support, comfort and knowledge while easing their journey despite the uncertainty. A community is ready to share their worries and thoughts and find solutions.
EXCHANGE BETWEEN AFFECTED FAMILIES: PROF. DR. MARTIN HAFEN, LECTURER AT THE LUZERN UNIVERSITY OF SOCIAL WORK
Early support for families with multiple stressors
Stressful life circumstances sometimes make it difficult for families to give their children a good start in life. Family-centered networking aims to identify these families as early as possible and offer them low-threshold, resource-oriented support.
AFFECTED FAMILY - IS CASE MANAGEMENT THE TASK OF THE PARENTS? GABRIEL - WOLF-HIRSCHHORN SYNDROME
"Don't let anyone dissuade you from your path!"
Gabriel was born with Wolf-Hirschhorn syndrome five years ago. For his parents, Bettina and Marcel, this marked the beginning of the search for the best therapy for their son and a marathon through the institutions to raise the necessary funds. It was a tiring battle with the authorities, in which they felt left alone - but not discouraged!
IS CASE MANAGEMENT THE PARENTS' JOB? DAGMAR RÖSLER, PRESIDENT OF THE SWISS TEACHERS' ASSOCIATION
Coordination in school and therapy
For almost 20 years, pupils with different prerequisites, conditions and needs have spent their compulsory school years together in mainstream classes. The following article outlines what this means and how it can also be successful for children with rare diseases.
AFFECTED FAMILY - COORDINATED INFORMATION FLOW: MATHILDA LOUISA, PEROXISOMAL D-BIFUNCTIONAL ENZYME DEFICIENCY
Room for miracles
Mathilda means "mighty fighter". The soon-to-be 2-year-old lives up to her name. Despite several life-threatening illnesses, Mathilda does what hardly anyone expected of her. Life. With her irrepressible will, she makes it clear: a diagnosis is only an external perspective. What counts is me!
COORDINATED FLOW OF INFORMATION: DR. MED. JÃœRG STREULI, PEDIATRIC ADVANCES CARE TEAM OSTSCHWEIZER KINDERSPITAL
Why palliative case management is essential
Palliative care (PC) is not usually associated with childhood and adolescence, nor is it primarily associated with rare diseases. However, unlike PC in adult medicine, pediatric palliative care (PPC) is often only marginally concerned with death. Rather, the focus is on the life and quality of life of a child and their family in special circumstances. The following article shows how PPC can also benefit children with a rare disease in this sense.
AFFECTED FAMILY - INTERACTION OF ALL ACTORS INVOLVED: FIONN - USP9X C.1475 G>A
Facing each other at the hospital bedside
Fionn is born with a dozen ailments; his life is constantly at stake. His parents struggle to work together with doctors and therapists and are exposed to ridicule.
INTERACTION BETWEEN ALL THE PLAYERS INVOLVED: DR. COLETTE BALICE, PEDIATRIC INTENSIVE CARE NURSE
Our aim is to relieve the burden on families
The care manager is a constant point of contact for patients and their families. A comprehensive, family-centered approach is essential to gain an overview of the living and care situation.
AFFECTED FAMILY - REDUCING THE POTENTIAL FOR CONFLICT: LILLY ANGELINA - RETT SYNDROME
Dispute with the IV about the intensive care supplement
Lilly was born supposedly healthy. After initially developing well, Lilly regressed due to Rett syndrome. In addition to the intensive care of their daughter, Lilly's parents also had to deal with other challenges. There were repeated disputes with the disability insurance company and the special needs school. What was missing was someone to coordinate everything and pull the strings.
AFFECTED FAMILY - PSYCHOLOGICAL STRESS AND EXCESSIVE DEMANDS: RÉMY - EOSINOPHILIC ESOPHAGITIS (EOE)
Those who are not believed
Petra and Marc are tilting at windmills when they try to find out why their son Rémy has stopped eating and is vomiting blood. Everywhere they go, people wave them off and send them home. The chronicle of a journey into a strange world and the path to family strength.
MENTAL STRESS AND EXCESSIVE DEMANDS: DR. MED. YVONNE GILLI, PRESIDENT OF THE SWISS MEDICAL ASSOCIATION
Conflicts in the doctor-patient relationship
"Thought does not always mean said, said does not always mean correctly heard, heard does not always mean correctly understood, understood does not always mean agreed, agreed does not always mean applied, applied does not always mean retained." (Konrad Lorenz)
AFFECTED FAMILY - COORDINATION BETWEEN PARENTS, DOCTORS AND INSURANCE COMPANIES: ELLA - MARSHALL SYNDROME
Courage, perseverance and a good gut feeling show the way
If a child is affected by a rare disease, countless examinations, genetic tests and repeated visits to the doctor are necessary. As if everything wasn't difficult enough, doctors and bureaucratic hurdles often get in the way. Ella's family found their way through these difficult times by taking control of the situation and persevering with the authorities and doctors.
COORDINATION BETWEEN PARENTS, DOCTORS AND INSURERS: MELANIE BARAN, HEAD OF SOCIAL COUNSELING AT KISPI ZURICH
"Children and young people are too little on the radar in social insurance law and in the political debate."
Melanie Baran is Head of Social Counseling at the University Children's Hospital Zurich. She and her team support parents with sick children in difficult situations and help them to navigate their way through the jungle of social insurance.
AFFECTED FAMILY - TRANSPARENCY THANKS TO DIGITAL TOOLS: AMÉLIE AND JONAS - RARE GENETIC DISEASE OF THE RETINA
Amélie and Jonas' eye disease eats up energy
Amélie and Jonas' disease is so rare that it doesn't even have a name. Although it affects the eyes, it also saps the children's energy. The family from St. Gallen tries to manage their everyday life with digital weekly schedules - and with the help of their two goats Max and Moritz.
TRANSPARENCY THANKS TO DIGITAL TOOLS: PROF. STEFAN RIBLER, LECTURER AT THE UNIVERSITY OF APPLIED SCIENCES OF EASTERN SWITZERLAND
Rare diseases: What are the opportunities and risks of artificial intelligence (AI) for families?
Let's ask AI in a very pragmatic and experimental mode how AI can support parents of children with rare diseases. We asked Chat GPT this question on July 8, 2023.
AFFECTED FAMILY - COMMUNICATION PROBLEMS IN THE PATIENT INTERVIEW: AMANDA - HETEROZYGOUS DE NOVUM MUTATION IN THE PDS5B GENE
Preparation as the key to a successful consultation
Living with uncertainty is part of everyday life for many families whose children are affected by a rare disease. The information provided by doctors and specialists can help. However, the conversations are often characterized by a lot of technical terms and an overabundance of information. For Amanda's parents, the key to a successful conversation is therefore preparation and follow-up.
COMMUNICATION PROBLEMS IN PATIENT INTERVIEWS: PROF. DR. SASCHA BECHMANN, COMMUNICATION SCIENTIST
Patient-oriented doctor-patient communication
Communication between doctors and patients is not just about exchanging factual information. Rather, it is about creating a basis of trust for the next steps in treatment. Patient-oriented communication enables patients and their relatives to express their ideas, fears and expectations.
AFFECTED FAMILY - NETWORKING ACROSS BORDERS: GIAN - SIDEROBLASTIC ANEMIA, TYPE 2
Sideroblastic anemia, type 2, prevents Gian from taking off
After the long wait for a diagnosis, parents of children with a rare disease often begin to worry and hope for a suitable therapy. Gian's family also hopes that the now five-year-old, who suffers from sideroblastic anemia type 2, can one day be cured. So far, his disease can only be treated with blood transfusions. Gian's family regularly discusses new approaches to finding a cure with a specialist.
NETWORKING ACROSS BORDERS: DR MED. HEINZ HENGARTNER, SPECIALIST IN PEDIATRICS & ADOLESCENT MEDICINE EASTERN SWITZERLAND CHILDREN'S HOSPITAL ST. GALLEN
Networking across borders is important for rare diseases
Common is common - rare is rare. This guiding principle, which is often quoted in medicine, is intended to remind students and doctors to first think of the most likely diagnosis as the cause of a patient's symptoms. It is all too common for mostly younger colleagues to primarily suspect a rare and therefore "exciting" cause, where a banal diagnosis usually exists. This results in unnecessary examinations and often expensive laboratory tests.
AFFECTED FAMILY - IMPROVEMENT THANKS TO NEW RESEARCH APPROACHES: DELIA - TURNER SYNDROME
There was no one person to coordinate everything
It is often difficult to find a specialist for rare diseases. Delia was diagnosed with two very rare diseases at the same time. The parents had to work with the doctors who came into question. The cooperation was at times gruelingly difficult. With the second diagnosis, the parents were more practiced and knew better how to defend themselves. Today, "Team Delia" works well.
IMPROVEMENT THANKS TO NEW RESEARCH APPROACHES: DR. CAROLA FISCHER, PROJECT MANAGER RARE DISEASES KISPI ZURICH
Improved overall situation thanks to new research approaches
The field of research into rare diseases is constantly expanding. Research is identifying new rare genetic diseases every week. Previously common diseases such as cancer are being divided into subgroups and thus become rare diseases, so to speak. It is a challenge for practitioners and political regulators to keep abreast of the latest research.
AFFECTED FAMILY - KNOWLEDGE PLATFORM RARE DISEASES: MILENA - MALFORMATION
"We had to learn to stand up for our concerns."
Six people, one wheelchair. It belongs to Milena, the family's youngest child. The eleven-year-old needs round-the-clock care, often suffers an epileptic seizure several times a day and likes to be in the middle of things. A visit to a farm where feeding tubes, ventilators, wheelchair ramps and medical emergencies are part of everyday life.
KNOWLEDGE PLATFORM RARE DISEASES: PROF. MELANIE WILLKE, INTERCANTONAL UNIVERSITY OF APPLIED SCIENCES FOR CURATIVE EDUCATION ZURICH
What the KMSK knowledge platform "Rare diseases" does
The transfer of knowledge can help families to better support and accompany their children. When parents acquire knowledge about their child's disease, they can better understand how the disease affects their child's life and what needs and requirements are associated with it.