Genetics
2. KMSK Knowledge Book "Rare Diseases - The Path - Genetics, Everyday Life, Family and Life Planning"
Hardly any path in life is straight. We all occasionally have to avoid an obstacle or take a detour. However, families whose children are affected by a rare disease have a very special journey ahead of them. Their everyday life is different from that of families with healthy children. Uncertainty, fear, hope and confidence are the feelings that accompany the families on their journey through life. Visits to the doctor and therapy are the order of the day. Many children need round-the-clock care, 365 days a year. With the second knowledge book of the Association for the Support of Children with Rare Diseases, we would like to show the life path of affected families. We shed light on the various stages: From the first signs of a disease, through medical and genetic clarifications, everyday life to further family and life planning. The families affected and the doctors, therapists and specialists treating them provide an authentic insight into their everyday lives. In this way, they enable us to learn more about our fellow human beings with rare diseases. We would also like to thank the journalists and photographers who have captured the emotions and concerns of the families affected with their words and pictures. They have all done this as a social commitment to the families affected, and with the Knowledge Book we are also sending out a signal to the 350,000 children and young people affected in Switzerland. We hope that we will succeed in creating even more knowledge and understanding with the second Knowledge Book. For all the young patients, their parents and siblings.
Sincerely
Support association for children with rare diseases (KMSK)
Manuela Stier, Initiator/Managing Director KMSK
Daniela Schmuki, affected mother/advisor KMSK
Simon Starkl, affected father/Advisory Board KMSK
Thanks to the generous support of our patrons, we are pleased to be able to offer the KMSK knowledge books "Rare Diseases" free of charge as print copies and for download:
kMSK Knowledge Book N° 2 (2019) Download
"Rare diseases - the path - genetics, everyday life, family and life planning"
Order your print copy (while stocks last)
"Rare diseases - therapies for children and support for families"
Introduction to the topic: LUC - RARE DISEASE, NO NAME
The birth of our son marked the beginning of a new era. We can hardly remember the time before that. The four and a half years together with Luc were as intense and fulfilling as a whole life - and yet far too short. Our everyday life was turned upside down, we reached the limits of our strength - and yet we wouldn't want to miss a single day.
Pregnancy: JONAH - WOLF-HIRSCHHORN SYNDROME
Jonah is 4 years old and suffers from Wolf-Hirschhorn syndrome. The mother went through a veritable odyssey until the diagnosis was made and was already heavily pregnant with her second child.
Birth: DAVIDE - EPILEPTIC ENCELPHALOPATHY MUTATION STXBP1 GEN
Nothing had indicated that Damiana and Diego's son Davide would be born ill: But after birth, the baby had epileptic seizures. Only a genetic test brought clarity: Davide suffers from a rare disease. Today, his parents say: "It's a miracle how you can grow into this fate, into this new life."
Uncertainty: KARL - MITTELLINY DEFECT, MISSING HYPOPHYSIS
In the beginning it was "just" a cleft palate, but over time it became clear that Karl is severely disabled. The 7-year-old has various diagnoses, but there is no name for his condition. After two unsuccessful genetic tests, his parents deliberately decided against further genetic testing. They say: "Karl is just the way he is and that's exactly how we love him."
Medical tests/genetics: SOPHIA ANNA - MUTATION IN THE KIF1A GENE
"Your child is affected by a mutation in the KIF1A gene" - this is the diagnosis for Sophia, who lives with her brother, sister and parents in the beautiful Glarus region and is growing up in this idyllic setting. But what does a genetic diagnosis like this mean for the family? The answer is both gratifying and sobering.
Diagnosis: AMANDA - AICARDI SYNDROME
Amanda - Andrea and Michel's daughter - was born exactly 380 days ago on January 30, 2017 and died on February 14, 2018. She had Aicardi syndrome: severe epilepsy, blindness, severe developmental disorders, a missing brain beam and pronounced scoliosis.
Everyday life/preschool: LIVIA - COFFIN-SIRIS-SYNDROM SMARCA 4
If you were to ask Bettina about her daughter Livia's age, the best answer would probably be that it doesn't matter. Livia is a clever and curious child, but her mental and motor skills are not up to her actual age. Livia's story shows us that comparisons with others are of little use and that we should take better care of the individuals.
Single mother: NINA - CRI-DU-CHAT-SYNDROM
Nina suffers from cri-du-chat syndrome. The now almost 8-year-old girl had a difficult start in life. The doctors predicted that Nina would remain a lifelong care case, dependent on all-round support. Today, she communicates with individual gestures, says "Mama, Papa, yes and no", understands everything, gets around quickly with her walking aid and is full of joie de vivre.
Fathers' perspective: MILENA AND JULIAN - MEROSIN-NEGATIVE CONGENITAL MUSCLE DYSTROPHY
Both of Mirco and Angelika's children suffer from merosin-negative congenital muscular dystrophy. A huge burden for the couple. The father of two tells us how important it is to be there for each other in order to cope with the challenges of everyday life. And finds that a row now and again is good for relieving tension.
Other children: ELIN - GENDEFECT PARTIAL TRISOMY 2P
Elin is born with a very rare genetic defect. There is no cure. Despite their toddler in need of care and his healthy sister, who is two years older, the parents still want another child. Irresponsible overconfidence or healing self-realization? A visit to the family of five.
Siblings: ALISSA - ANGELMAN SYNDROME, NIKOLAI - DYSMELIA AND SPEAKING PRACTICE
The journey to Karin, Sigi, Alissa, Joceline and Nikolai is not an easy one. It leads through winding streets and paths into the old part of a Zurich lakeside community and ends in front of a large house. A little bell hangs on the wooden door that leads into a beautiful, playful garden: "It rings when Alissa tries to open the door to go for a walk on her own - which of course she can't," says Karin with a broad, hearty laugh.
Legal support: ERIK - NO DIAGNOSIS
Antonio and Mery, the parents of severely disabled Erik, are fighting an almost absurd battle. They have to fight to be allowed to care for their child at home. In the opinion of the health insurance company and the IV, Erik should be placed permanently in an institution for the disabled, rather than receiving sufficient support to care for him at home.
Everyday life/school: UEL - MOWAT-WILSON-SYNDROM
Everyday school life as many parents know it - and yet very different. Uel's family gives us an insight into a typical day at a special needs school. Two topics dominate the whole day: on the one hand, difficult nutrition and on the other, epilepsy. And despite everything, hardly any child radiates as much joie de vivre as Uel.
Adolescence: SHANIA AND AMY - CORNELIA-DE-LANGE-SYNDROME
Shania is 18 years old and disabled. She still lives at home, but will soon be moving into a group home. Her parents are looking forward to it and want their daughter to have a life of her own. They have had a tough few years, a second disabled daughter and a healthy son. Time for something new and a breather.
Adulthood: NICO - ANGELMAN SYNDROME
Nico loves to eat, preferably sweets, and likes cat magazines. The usually cheerful 43-year-old with Angelman syndrome lives in a residential home in the canton of Bern and spends every other weekend with his mother Flavia. He is well integrated into his family and enjoys spending time with his little nieces and nephews.
Palliative care: MIA - PYRUVAT-DEHYDROGENASE-MANGLE IN MUTATION PDHA1
Little Mia was born with a severe, extremely rare metabolic disorder. It was clear from the start that Mia would only live for a few years. Despite this prognosis, the young family experienced many happy moments. However, they also noted that not all medical options should be exhausted on Mia's last journey.
Death, mourning and processing: SHAYEN - SCHINZEL-GIEDION-SYNDROME
Janine had already lost two girls and a third died 11 years later as a result of Schinzel-Giedion syndrome. Little Shayen was only 8 months old. Janine, Juno and Patrick tell their story and talk about difficult moments, anger, death, grief, hope, wishes and what gives them strength.