Insights
1. KMSK knowledge book "Rare diseases - insights into the lives of affected families"
Support association for children with rare diseases (KMSK)
Manuela Stier, Initiator/Managing Director KMSK
Christine Maier, Advisor KMSK
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 our patrons:
KMSK knowledge book N° 1 (2018) Download
"Rare Diseases - Insights into the lives of affected families"
Order your print copy (while stocks last)
"Rare Diseases - Therapies for children and support for families"
Rare disease: SHANEA - HYDROZEPHALUS WATERHEAD AND JANINA - CIRCULAR CRIPPES SKLERODERMIA
Sometimes I feel like we're driving in a 30 zone while other families are living life on the highway. This is how Erika describes her life with two children affected by a rare disease. The story of Janina, Shanea and Ocean shows that this life also offers the chance to see things that others don't see.
Rare disease: LEONIE - HEREDITARY SENSOMOTOR NEUROPATHY
Nicole was not diagnosed with Charcot-Marie-Tooth (CMT) until she was in her early twenties. She was the first person affected in her family and was not aware of the disease. Not so with her daughter Leonie, who is now eight years old. When her first gait abnormalities became apparent, Nicole reacted immediately and had her daughter examined. The result: she is also affected by CMT.
Rare disease: TIM - WAGR-SYNDROME
Tim, now 5 years old, was born as a seemingly healthy boy. One day after his birth, the doctors examined his eyes and saw that his iris was missing: The newborn was missing his iris. Examinations show that Tim suffers from WAGR syndrome. This is an extremely rare genetic defect and only 400 people worldwide are affected.
Rare disease: NOEMI - NEUROFIBROMATOSIS
2-year-old Noemi is affected by neurofibromatosis type 1 (Recklinghausen's disease). Initially, there were no indications that Noemi had such a severe but rare genetic defect. At the same time, Noemi has many symptoms that do not match NF1. Therefore, another genetic defect or another disease is suspected. So far, however, doctors have been in the dark about this.
Rare disease: SINA MARION AND THILDA KONNY - NEUTROPENIA
Tanja and Sebastian had to wait four months before they knew why their twins were constantly ill: They both suffer from neutropenia, a serious, rare disease. This diagnosis turned the lives of the family of seven upside down. Thanks to daily injections and great precautions, the family got back on their feet.
Rare disease: RAYAN - POLYMICROGYRIA AND PACHYGYRIA
Rayan and Arya, Zeynep and Drazens' two children, are hearing impaired. Little Rayan is also severely disabled. His parents care for him with great dedication. They explain why, despite all the difficulties, they don't let them lose their courage to face life. And why they occasionally take a break from everyday life for two.
Rare disease: MARLENE - GLUTARACIDURIA TYPE I (GA-1)
Everything seemed normal for the first 6 months - and then my world collapsed: What began as a normal middle ear infection became life-threatening. And sent the young family on a rollercoaster ride. But Marlene fought her way back. And how!
Rare disease: CÉLINE - MUSCLE DYSTROPHY ULLRICH
Céline was born with Ullrich's muscular dystrophy. In her case, the disease is not hereditary, but can be described as a freak of nature. For her parents, five-year-old Céline is a real stroke of luck. Of course, they also struggle with the fate of a disabled child. However, the course of the disease and the progress the little girl is making give them much hope.
Rare disease: LARA - NO DIAGNOSIS
Lara is a cheerful three-year-old girl. However, the fact that she was born with trigonocephaly, a heart defect and hearing loss, among other things, sets her apart from other children her age. Lara's parents Bettina and Marco have only recently discovered that a rare genetic defect is responsible for their daughter's impairments.
Rare disease: PHEBE - PRADER-WILLI-SYNDROME
Phebe is now 14 years old. For so long, the family has been on a rollercoaster ride with constant ups and downs due to their eldest daughter's illness. This ups and downs are noticeably wearing on the nerves and draining the whole family. This is despite the fact that it was completely unclear after the birth what was going on with Phebe and what the future would bring.
Rare disease: DIEGO AND ELIO - PARTIAL TRISOMY 18, PARTIAL MONOSOMY 21, OSTEOGENESIS IMPERFECTA TYPE 1
At the end of March 2018, the first tentative rays of sunshine are warming people and the earth after a long, cold winter. I visit Diego and Elio in Seedorf UR, identical twins who are almost six years old. They both have a genetic defect and - in addition - brittle bone disease, a very rare combination of rare diseases.
Rare disease: ÅžEVIN - EPIDERMOLYSIS BULLOSA, FATHER LING DISEASE
The fact that Åževin from Muttenz can now attend a mainstream school despite her incurable butterfly disease is not a matter of course. She and her parents even had to fight for the right to do so in court. The 12-year-old and her parents bravely, courageously and proudly master the sometimes very complex and exhausting daily routine.
Rare disease: JONAS - NO DIAGNOSIS
Jonas is ten years old. He has four kidneys and a spleen that is too large. The rest of his organs are barely growing and are the size of a two-and-a-half-year-old. Jonas' immune system is so weak that a simple infection quickly becomes a life-threatening emergency. Doctors have been searching for a diagnosis for years. To date without success.
Rare disease: MILENA AND JULIAN - MUSCLE DYSTROPHY
Fate has struck twice for Angelika and Mirco: their children Milena and Julian both suffer from merosin-negative congenital muscular dystrophy. Mirco says that it is as rare as winning the lottery for both children to be affected at the same time. Nevertheless, the family has not lost heart.
Rare disease: ANDRINA - 10P13PTER-DELETION
Andrina suffers from a 10p13pter deletion. The seven-year-old is missing part of a chromosome, which causes developmental disorders and health problems. It took Katharina and Benno 15 months to find out what was wrong with their daughter. The family does not know what the future will bring. The parents are happy about every step forward Andrina makes.
Rare disease: SEAN - BRAIN TUMOR AND NEAL - DRAVET SYNDROME
...only somehow with a different sign. This is how Danja, Neal and Sean's mother, sums up what others can't find the words for: Out of four children, one has a severe disability and one has already died of a brain tumor. And for completely different reasons.
Rare disease: TALINA - BLOOM-SYNDROME
Perhaps the hardest thing parents have to do: Letting a child go in love. Because anything else would just be torture. Rahel and her family have experienced it. And in a touching blog, they report on how they provided palliative care for Talina - at home, with her family.