Rare Diseases
Guides for patients and families
What to do after a diagnosis, reports, rights and support in Türkiye. Practical, sourced and in plain language.
Newly diagnosed: first stepsThe first weeks: understanding the diagnosis, the right specialist, genetic counseling, keeping records and questions to ask your doctor.6 sections · Open the guide Rights and supportÇÖZGER and medical board reports, SGK and medicines from abroad, home care, RAM and special education, rights of working parents.7 sections · Open the guide Joining clinical trialsPhases and placebo, the informed consent form and the right to withdraw, trial registries, risks, early access for humanitarian purposes, trials abroad.6 sections · Open the guide Genetic testsTypes of tests, genetic counseling, results and VUS, what it means for the family, KVKK and privacy, SGK rules, tests sold online7 sections · Open the guide Planning a pregnancyCarrier status and chances, premarital screening, consanguineous marriage, CVS, amniocentesis, NIPT, PGT, SGK conditions and the legal framework.7 sections · Open the guide Moving from pediatric to adult careWhen transition starts, the transition plan, managing your own health, turning 18 and reports, guardianship, sexual and mental health, education and work6 sections · Open the guide Looking after yourself as a caregiverSigns of burnout, taking breaks, ALO 183 and counseling, siblings, sharing tasks between partners, grief and peer support.7 sections · Open the guide Rare disease at schoolTelling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.7 sections · Open the guide Special diets and medical nutritionMetabolic diet, blood monitoring, medical formula and SGK report, sick-day plan, tube feeding and swallowing problems, school meals, supplement warning7 sections · Open the guide Home care and medical devicesHome health service, oxygen and respiratory device reports, wheelchairs and orthoses, power outage notification, emergency plan.7 sections · Open the guide Treatment abroad and travelSGK treatment-abroad report, companion, second opinion, stem cell tourism warning, traveling with medicines, in-flight oxygen, insurance, emergency numbers7 sections · Open the guide For families without a diagnosisBeing undiagnosed, the diagnostic journey, exome and reanalysis, ÇÖZGER without a diagnosis, records and video, programs worldwide, peer support7 sections · Open the guide Consanguinity and carrier statusHow common consanguinity is, recessive inheritance and chances, premarital screening, expanded screening, cascade testing, genetic counseling.7 sections · Open the guide I want to prepare an emergency cardPut the information the emergency team needs on one card and prepare for doctor visits.Prepare the card Find my rightsAnswer a few questions and we will list the sections of our guides on rights and support that may fit your situation.Start the questions Preparing for a doctor visitCollect your questions and symptom notes on one page, then print it and take it with you.Start preparing I don't understand a termCarrier, gene therapy, phase 3, ÇÖZGER… Plain explanations of common terms.Open the glossary