Knowledge transfer

Strengthening health literacy through knowledge transfer

When a child is affected by a rare disease, there is a lot to clarify. In this difficult situation, the KMSK knowledge platform of the Förderverein für Kinder mit seltenen Krankheiten provides guidance. It closes a gap in the healthcare system and creates the conditions for strengthening health literacy and improving the quality of life of affected families.

CEO CSS

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Digital knowledge platform provides relief for affected families

The KMSK knowledge platform was created on the initiative of Manuela Stier, founder and managing director of the Förderverein für Kinder mit seltenen Krankheiten, in close collaboration with our 710 affected KMSK families, the ZHAW Winterthur, the HES-SO Valais and competent specialists. May this concentrated power of knowledge and experience make the often arduous everyday lives of the approximately 350,000 children and adolescents affected by a rare disease in Switzerland a little easier so that they can find more time for themselves and their families.

Founder and Managing Director of the Support Association for Children with Rare Diseases

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Promoting the transfer of knowledge creates great benefits

I consider it a great honor to contribute to a knowledge book that offers real added value for parents of a child with a rare disease. This book, which is dedicated to the KMSK knowledge platform that was launched at the same time, supports affected families in coping with their situation in the best possible way. I am very pleased that we (the ZHAW) played a key role in the development of the knowledge platform.

Rector of the Zurich University of Applied Sciences (ZHAW)

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Access to important information is essential for affected families

"I wish we had known about this much earlier..." - I have heard this sentence far too often in counseling sessions with parents. When parents are diagnosed with a rare disease, they often get lost in the information. And yet - or precisely because of this - it happens again and again that parents are missing important information for everyday life. That's why the knowledge platform project of the Association for the Support of Children with Rare Diseases is so close to my heart.

Regional Managing Director, Procap March-Höfe

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Quick access to relevant information for families

The diagnosis of a rare disease brings with it many questions, uncertainties and fears for the families affected. What happens next? What does the diagnosis mean? Where can you find information to help you find your bearings? In order to provide families with the best possible support, it is necessary to pool expertise.

Director of Research & Teaching, Professor of Metabolic Diseases, Head of the Department of Metabolic Diseases, University Children's Hospital Zurich - Eleonorenstiftung, Board member of the Association for the Promotion of Children with Rare Diseases since 2014

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The first diagnosis was manageable, the second shattered the young family

Joline was already a big baby at birth. Her parents were not worried about this. However, when more and more symptoms became noticeable, Joline became increasingly overweight and puberty symptoms appeared at just 18 months, her mother knew that something was very wrong! The diagnosis pulls the rug from under the family's feet.

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From the first abnormalities to the decision for or against the sick child

If gynecologists detect any abnormalities in the unborn child during pregnancy, an examination by a prenatal doctor follows. If the suspicion is confirmed, the parents concerned are supported by an interdisciplinary team. However, the decision for or against the child must be made by the parents alone.

FMH specialist in gynecology and obstetrics, pediatric and adolescent gynecology, practice and attending physician Lindenhof Group, past president of Gynécologie Suisse

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Suspecting and diagnosing a rare disease is a challenge for pediatricians. The exchange and observations of the parents help so that symptoms can be assigned and further clarifications can be arranged. Working together on the way to a diagnosis is key.

FMH specialist in pediatrics and adolescent medicine, specializing in child neurology, Zentrum für Kinderneurologie AG, Zurich

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Clarity about the diagnosis is the first step towards overcoming the disease. Most rare diseases have a genetic basis, so a genetic test is often needed to make a diagnosis. But where and how can you get one? Who pays the costs? And what happens afterwards?

Director of the Institute of Medical Genetics at the University of Zurich, President of the Association for the Promotion of Children with Rare Diseases

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Institutions committed to inclusion should become the norm

Elena Sofia is an active, happy girl. Curiosity drives her to conquer her surroundings every day. However, her development is different to that of most children. No daily routine runs to plan, even though structures are very important. The curative education service and a daycare center with integrative care help the family to master the daily balancing act.

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Disability is just a word, but one that can have far-reaching consequences! A word that changes the world of all those affected and is stressful for many parents. Shock, disappointment and fear make it difficult for them to accept their child. Reactions such as grief, depression, rejection or hostility can be the result.

Social pedagogue, promoting resilience in families with children with disabilities

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In difficult everyday life, it is important for parents to put aside their perfectionism and learn that less is more. "Nobody is capable of just functioning all the time," says Sabrina Bühler-Pojar, psychologist and mother of a severely multi-disabled daughter with a rare diagnosis and a healthy son.

Psychologist, affected mother

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Around 260,000 children in Switzerland grow up with a sick or disabled sibling. Their wishes and needs often fade into the background because all attention is focused on the sick child. At the same time, however, the siblings often develop impressive abilities.

Head of Child and Adolescent Psychosomatics, Inselspital Bern, Bern Children's Hospital

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What Cuba doesn't know is that he has a job. He looks after Noan!

Noan and his family have been through some tough times: Noan has Li-Fraumeni syndrome and is also affected by epilepsy. Since Labrador Cuba moved in, Noan is doing much better. The meetings with other affected families are also a great support for everyone: "The exchange is important, you can't get all the information yourself," says Florian, Noan's father.

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The University Children's Hospital Basel (UKBB) promotes self-help in everyday hospital life: patients and their relatives are made aware of the services offered by self-help groups when they are admitted. "It is important for parents to know that such groups exist. The point at which they actually want to get in touch is of secondary importance," says Patrizia Kasman. In future, cooperation between hospitals, self-help groups and regional self-help centers should be further strengthened and community self-help should be promoted as a supplement to hospitalization.

Social worker FH, Care Management, University Children's Hospital Basel (UKBB)

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The exchange with families in similar situations enables us to benefit from their experiences and to go our own way out of the feeling of helplessness.

Affected mother, pilot project regional KMSK family meetings

KMSK FORUM AND REGIONAL KMSK FAMILY MEETINGS
The Förderverein für Kinder mit seltenen Krankheiten is working on this concept together with affected mothers and fathers. More information will follow.

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Lots of assistance hours - but no suitable staff

Olivia has Aicardi syndrome and needs round-the-clock care. The curative education school Sonnenberg in Baar covers a significant part of her needs, allowing both parents to work and look after her older brother Mario. Kispex can also provide a few hours of assistance. Finding suitable IV assistance was very difficult for the family.

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"You often hear from the parents concerned that there is a Spitex for children?" Everyone is talking about Spitex for adults, but the fact that there are also organizations specifically for children is not present in everyday life. The young clients concerned are also entitled to care at home and their relatives appreciate the support they receive in their hectic everyday lives.

Regional Manager, Joël Kinderspitex Foundation, Switzerland

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Preventing overload - accepting help

Only by taking regular breaks can relatives care for a loved one over a longer period of time while maintaining their own quality of life and health. That's why you should seek relief early on and not just when it's already "five to twelve". After all, overload often comes gradually.

Managing Director, Swiss Relief Service, Aargau-Solothurn

Closeness helps the healing process

Sick children need their family. Only they can give the child what not even the best medical care can provide: confidence and security. If children are hospitalized in a children's clinic further away from home, families can find a temporary home at the Ronald McDonald Parents' House. We create closeness - that is our mission.

Managing Director, Ronald McDonald House Foundation Bern

Fabienne Jenni has been working in Pro Infirmis' assistance advice service for ten years. In her opinion, it is not always possible to explain why some assistance recipients find a long-term solution quickly, while others have many changes. The extent of the support required and the area of responsibility are often decisive factors. It is certainly helpful to have a good social network nearby.

Social worker, Pro Infirmis Zug

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Marwin knows no pain, no boundaries and no dangers

With his triangular face, prominent teeth, protruding ears and covered eye, he could also pass for a playful pirate. The children love him and his fearlessness, wildness and imagination. The other parents are annoyed by the noisy child. What they don't know: Marwin suffers from KBG syndrome.

When a rare disease is diagnosed, affected parents experience a variety of emotions. After overcoming the initial shock reactions, most families experience a reorientation of family life and new perspectives on health and illness emerge. This is followed by a period of research into the disability or illness.

Psychotherapist, Head of Department, Spielzeit Psychotherapie Zurich

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Fate has struck three times for Doris: her daughter and two granddaughters are all affected by the same rare disease (Charcot-Marie-Tooth disease). For the 66-year-old, it goes without saying that she is always there for her three girls, even if she herself is sometimes at her wits' end.

Mother and grandmother of one affected daughter and two grandchildren

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Families whose child is affected by a rare disease have a great need for psychosocial support, but this is rarely sought. The consequences can be massive and, in the worst case, there is a risk of burnout.

Chair of Clinical Psychology - Psychodynamic Therapy, MSH Medical School Hamburg

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Dramatic situation: the KESB threatens to remove the child

The parents have only recently received an initial diagnosis for the rare illness of their now 14-year-old boy. With his care and the constant uncertainty of what lies ahead, they have a heavy burden to bear. But that's not all: disputes with insurance companies and the KESB put additional obstacles in their way.

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Despite the high level of regulation, parents of children with rare diseases have different experiences with IV depending on the canton in which they live. This is due to the high level of complexity and federalist implementation, with each canton having its own IV office. Since January 1, 2022, the IV has been offering case management to parents of children with a severe birth defect.

Managing Director, IV Office Canton of Bern, author of the book "Social Insurance in Switzerland"

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It's not difficult to lose track in the insurance jungle. Especially if you have much bigger worries. It is worth accepting help and support at an early stage so that the applications are completed correctly.

Lawyer, Head of Legal Services, Member of the Executive Board of Procap Switzerland

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What are the benefits of legal protection insurance? Are children automatically covered? And what do I need to know about health insurance? Franziska Venghaus, a lawyer at AXA-ARAG Legal Protection Insurance, provides information on insurance issues.

Lawyer, AXA-ARAG legal protection insurance

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Fiora and the dolphins

The most effective therapy for the daughter with multiple disabilities is offered 11 hours by plane and 8000 kilometers away from the family's home. The therapy costs alone amount to several thousand francs for a few days. What do the parents do? Give up the last hope, go into debt or take a new path? The story of Fiora and the dolphins.

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Because the Swiss social security system is not seamless, families sometimes find themselves in financial difficulties due to their child's illness or disability. For this reason, around 13,000 foundations have been set up in a spirit of solidarity. It is worth applying for support benefits.

Social counseling, Eastern Switzerland Children's Hospital St. Gallen

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Simon is the father of Fin, who is affected by the rare disease West syndrome. Financing for a special therapy, thanks to which the boy is making great progress, was rejected by the disability insurance and the health insurance company. So that Fin can continue to benefit from the therapy, his father set about looking for alternative funding options. And he found what he was looking for.

Affected father, board member of the association for children with rare diseases

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Life is (not) a marble run

Everything went smoothly during Judith's second pregnancy. But after the birth, the child was too weak and too weak, unable to drink and had to be admitted to neonatology. After just one week, the parents were diagnosed with Prader-Willi syndrome. Since then, many things have changed for the family of five - and yet everything has gone well.

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Not every therapy is equally suitable for every child. In order to achieve the best possible results, an individual therapy concept and interdisciplinary cooperation between therapists, teachers, doctors and parents are crucial. Sometimes, however, a break in therapy is needed in order to make progress.

Chairman of the Executive Board of the Ilgenhalde Foundation

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Successful therapy with ultrasound frequencies from dolphins

An ultrasound frequency generator makes it possible - it emits the healing ultrasound frequencies of dolphins and thus enables dolphin therapy without dolphins. Young patients experience a lasting improvement in disabilities, but also in autism, ADHD, developmental delays, speech and perceptual disorders.

Managing Director, KOSYS Group, dolphin therapy

The everyday lives of affected children are usually characterized by a variety of therapies. In order to achieve the best possible results, cooperation between the child, parents and therapists is key. At the same time, there is no one right therapy - it has to be individually adapted.

Physiotherapist, Head of Therapies Children's Rehabilitation Switzerland, MSc Neurorehabilitation Research, University Children's Hospital Zurich - Eleonorenstiftung

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Vacations at last! An adventure with an open end

Summertime - vacation time. What is "courant normal" for many families is an absolute first for the family from Seedorf (UR): packing suitcases, setting off and spending several days in a different place. The children's anticipation of the week-long stay in Urnäsch (AR) is huge, as is the thrill for the parents.

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Sport and disability are not a contradiction in terms; quite the opposite: sports activities for children and young people with disabilities not only have a motivating effect on children's enjoyment of exercise, but also offer them the opportunity to make new social contacts.

Deputy Managing Director and Head of Sport & Development, Plusport Disabled Sports Switzerland

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When families with a disabled child want to go on vacation, they first have to find a suitable vacation destination. Caring for and looking after the child also takes up a lot of time and energy during the vacations. So that parents can still relax, the "supervised vacations" offer provides on-site care.

Managing Director, Cerebral Foundation

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Many families with a disabled child shy away from staying in a hotel. There is too much fear of the other hotel guests looking at them askance and that the stay will not be very relaxing. However, if the "Swiss Family Hotels" organization is anything to go by, carefree family vacations are very popular!

Hotelier and host, Märchenhotel Braunwald

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Where is school integration if you still have to fight for everything?

Alenia is only allowed one gram of fat per 100 grams. The food rations therefore have to be carefully weighed up. She suffers from a total fat intolerance. Due to her illness, the seven-year-old needs more attention than other children and finding a suitable school facility is a challenge for parents and child alike. Now she is about to start school.

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The debate about inclusion or separation has been intense and often very emotional for many years. There is rarely a lack of will on the part of all those involved, but often a lack of personnel resources, infrastructure and clear agreements. The current acute shortage of teaching staff is now making the successful integration of children with special needs into mainstream schools even more difficult.

Principal Steinmaur, for integrative support

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Children with rare diseases have a right to good educational services. In order for professionals to design these, they need broad-based specialist knowledge and an attitude that sees every child as capable and willing to learn.

Professor of Education, Institute for Disability and Participation, Intercantonal University for Special Needs Education Zurich, HfH

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Whether daycare, kindergarten or school - the first step out of the family is a challenge for children. And parents also face numerous hurdles when looking for the right educational institution. They can find guidance and support from the Heilpädagogische Früherziehung (HFE).

Managing Director, Professional Association for Early Special Needs Education BVF

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The mother plans the appointments around her working day as much as possible

Norina (17) has Pallister-Hall syndrome and has spent many days and weeks in hospital throughout her life. Her parents were able to fit the extra effort into their everyday lives quite well. They were helped by a flexible childminder, lots of supportive friends and relatives and good planning. Mother Franziska in particular knows how to juggle a teaching job and doctor's appointments.

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Small companies (SMEs) such as Grassi Koch AG in Zurich are family businesses, which is why there is great solidarity among employees in both good and bad times. It is therefore not surprising that there was no lack of support when the rare disease Charcot-Marie-Tooth syndrome was discovered in the daughter of an employee. It was a fate that affected everyone.

CEO and owner, Grassi Koch AG

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The rare illness of a child is often a reason for mothers to give up work: many therapies, unexpected courses of illness and associated absences from work, which put a strain on the employment relationship. Good to know which employment law applies in this situation!

Lawyer for employment law

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Families who have a child with a rare disease are often already stretched to the limit. Reconciling family and career also pushes them to their limits; affected parents therefore need supportive conditions in the workplace.

Business IT graduate FH, Head of Application Services, Helsana AG

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Around 250 people in Switzerland are affected by Dravet syndrome, one of them is Elia

Elia was born a healthy child, but at the age of six months everything changed abruptly. Countless epileptic seizures characterize the family's everyday life. With the increasing and long-lasting seizures comes the fear of losing Elia, as children affected by Dravet often do not survive past the age of four. But Elia is alive. He is 18 years old and he loves life.

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Separating from the family is a very individual and demanding process for young adults with a disability. It is worthwhile dealing with the transition from school to an adult institution at an early stage, looking at various residential and employment options and focusing on the child's individual skills when making a choice.

Management, Wagerenhof Foundation

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With a progressive disease such as Duchenne muscular dystrophy, opposing developments come together during adolescence. On the one hand, young people strive for independence in line with their age, while at the same time their dependence on carers and caregivers increases due to the disease.

Social pedagogue FH, Head of Communication, Mathilde Escher Foundation

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The Swiss transition program for advice and support for young people with disabilities or chronic illnesses is designed to facilitate a structured transition from adolescent to adult medicine and adult life. It is not just about medicine, but about all questions and tasks in the areas of health, housing, work and integration.

Head Physician, REHAB Basel, Clinic for Neurorehabilitation and Paraplegia

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Children don't die - and what if they do?

Losing your own child and twin sister is an unimaginably sad fate. You have no choice, and yet hope dies last and yet there is support and comfort. With their admirable openness, Michaela and Alain want to encourage and support other families on their individual journey.

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Although a children's hospice is often associated with the end of life, a major focus is on caring for the child during the period of illness - i.e. support in the middle of the family's life. allani does not want to replace existing institutions and services, but to supplement them and thus close an important gap in the care of children with complex illnesses.

Member of the Foundation Board of allani Children's Hospice Bern; intensive care nurse, nursing expert in pediatric palliative care and bereavement counselor at the Children's Clinic of Inselspital Bern

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The death of one's own child is probably the worst thing that can happen to parents; their entire value system collapses. The siblings are often forgotten. They suffer and are left alone with their feelings and fears. A family grief counselor can help in this challenging process.

Nurse, pediatric intensive care, Inselspital Bern, family grief counselor, Association for Family Grief Counseling

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The death of a child plunges parents into deepest despair - all hopes and dreams for the future are abruptly destroyed and the meaning of life suddenly seems to have been lost. It often takes a long time for parents to feel that their own lives can go on.

Nursing specialist, focus on palliative care in pediatric oncology, Kantonsspital Aarau AG

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Jael's childhood is marked by numerous hospital stays

Four-year-old Jael suffers from an extremely rare genetic defect with the abbreviation RARS2. Although the girl is currently spared epileptic seizures, her health is fragile. For her parents Tamara and Dominique, this means that they are constantly on the alert. Even a slight fever and an infection can make a hospital stay necessary.

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In an emergency, it is important to do the right thing quickly and keep calm at the same time. This is no easy task when your own child is involved. In order to help them quickly, cooperation between the parents and the nursing staff is essential.

Ward Manager, Emergency for Children and Adolescents, Baden Cantonal Hospital, Department of Nursing

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