Guide
For families without a diagnosis
A diagnosis can take years, and sometimes it may never come. This guide explains what can be done while you wait for a diagnosis and what support is possible even without one.
What does it mean to be “undiagnosed”?
Being without a diagnosis is common; it does not mean that you or your doctors have done something wrong.
A condition without a name
Sometimes, despite all the tests, the problem cannot be given a name. In the UK this is called a “syndrome without a name.” It is not a diagnosis. It is a shared name for conditions whose cause is unknown. An underlying genetic cause is often suspected. Every child is affected differently.
Source: NHS England Genomics Education – Syndromes without a name (SWAN) · Genetic Alliance UK – SWAN UK (Syndromes Without A Name)
How common is it?
In the UK, about 6,000 children are born each year with a syndrome without a name. About half of children with learning disabilities have no definite diagnosis. Among those born with complex health problems, this rate is 60 percent. At some rare disease centers in France, up to half of patients are undiagnosed. So you are not alone in this situation.
Source: NHS England Genomics Education – Syndromes without a name (SWAN) · Angin C ve ark. Orphanet J Rare Dis 2024 – RD-CODE önerileri (PMID 38280999)
Being undiagnosed has a code too
Orphanet has created a separate code for undiagnosed patients: ORPHA:616874. The code means that all reasonable investigations have been done but no diagnosis has been made. The aim is to make these patients visible in health records. This may make it easier for them to take part in research. You can ask your doctor whether this code is used in Türkiye.
Source: OrphaNews – Coding the undiagnosed: RD-CODE · Angin C ve ark. Orphanet J Rare Dis 2024 – RD-CODE önerileri (PMID 38280999)
Why can the diagnostic journey take so long?
In rare diseases, a diagnosis often takes years; there are several known reasons for this.
The average wait is about five years
In 2022, a survey was carried out in Europe with more than 10,000 patients. The average time from the first symptom to a definite diagnosis was 4.7 years. One in four people saw a doctor eight or more times before being diagnosed. If you have been on a long road, this is a common experience.
Source: EURORDIS – Rare Barometer: tanı gecikmesi anketi (2024)
Another diagnosis may come first
In the same survey, most patients had first received a wrong diagnosis. Many had their symptoms attributed to a mental health problem or not taken seriously. If you feel your symptoms have not been explained, you can tell your doctor. For the right to ask for a second opinion, see the “Newly diagnosed” guide.
Source: EURORDIS – Rare Barometer: tanı gecikmesi anketi (2024)
The disease may not be known yet
Some diseases have not yet been described in medicine. An undiagnosed patient program in the US found more than 30 new diseases. Even in that program, a diagnosis was made in only between a quarter and a half of cases. So not having a diagnosis today does not mean that someone has missed something.
Reaching an experienced team
In the survey, patients referred to an expert center were diagnosed sooner. The difference was about one year. When the diagnosis is unclear, teams in which several specialists look at the case together can be helpful. Often medical genetics or pediatric genetics works together with departments such as pediatric neurology and metabolism. You can talk with your doctor about which department to go to.
Source: EURORDIS – Rare Barometer: tanı gecikmesi anketi (2024) · NORD – Undiagnosed diseases
Exome, genome and reanalysis
A negative exome or genome test is not the final word; the data can be looked at again over the years.
What does a negative result mean?
An exome or genome test may come back negative. This does not mean there is no genetic cause. Some changes cannot be seen with these tests. For some genes, it is also not yet known which disease they cause. Types of tests and what results mean are explained separately in the “Genetic tests” guide.
Source: MedlinePlus Genetics – Whole exome and whole genome sequencing · MedlinePlus Genetics – What do the results of genetic tests mean?
When can the data be looked at again?
Science finds new genes every year. In a review combining 29 studies, a diagnosis was made in about one in ten of the files that were looked at again. In reanalyses done after two years, this rate was a little higher. Another review suggested that an interval of more than 18 months may be appropriate. You can talk with your doctor about the best time.
Source: Genetics in Medicine 2022 – Yeniden analiz derlemesi ve meta-analizi (PMID 35550369) · Tan NB ve ark. Mol Genet Genomic Med 2020 (PMID 32969205)
Reanalysis may not happen on its own
A study was carried out in the Netherlands with 150 children. Five years after the first exome, the files were reanalyzed. The diagnostic rate rose from 31 percent to 53 percent. Most of the new diagnoses were in families who had not gone back to their doctor. So, at regular intervals, you can ask your doctor, “Is there any new information?”
Sometimes a different method is needed
Looking again only at the old data is not always enough. In one study, new diagnoses were made in other ways. These included microarray, repeating the test with better coverage, or testing the mother and father together. The doctor decides which method suits you.
Source: Tan NB ve ark. Mol Genet Genomic Med 2020 (PMID 32969205) · Schobers G ve ark. Genome Med 2022 (PMID 35710456)
Testing and rights without a diagnosis in Türkiye
Not having a diagnosis does not prevent your child’s needs from being written in a report.
Genetic testing and SGK
Genetic centers and the general rules of SGK (Social Security Institution) are covered in the “Genetic tests” guide. As additional information, the SUT (Health Implementation Communiqué, SGK’s reimbursement rules) lists the places that can bill SGK for the test. These are contracted tertiary state hospitals. Secondary hospitals with a licensed genetic center on site are also listed. Tertiary private hospitals are on the list as well. You can ask your hospital about your own situation.
Source: SGK Sağlık Uygulama Tebliği (SUT), md. 2.4.4.G-2 (mevzuat.gov.tr)
ÇÖZGER does not require the name of the disease
Under the ÇÖZGER regulation (the disability assessment system for children), a child’s needs are determined by looking at loss of function. Even if the disease is not named in the guideline, losses in body systems are assessed. The diagnosis and ICD code, if any, are written in the report. So a report can be requested for a child without a diagnosis too. Types of reports are explained in the “Rights and support” guide.
The family’s view and a holistic assessment
Under the regulation, the views of the child and the family can be taken as a basis. If needed, a physiotherapist, psychologist or social worker also gives an opinion. Describe with concrete examples what your child cannot do in daily life. This helps. You can also bring the records you have kept.
Source: Çocuklar İçin Özel Gereksinim Değerlendirmesi Hakkında Yönetmelik, md. 10/3 (mevzuat.gov.tr)
If things change, the report is renewed
If the findings have not fully emerged, a time-limited report is issued. If the child’s needs change, the caregiver can request a new assessment. If the doctor concerned considers it appropriate, a new report is issued without waiting for the period to end. If a diagnosis is made later, you can discuss this with your doctor too.
Source: Çocuklar İçin Özel Gereksinim Değerlendirmesi Hakkında Yönetmelik, md. 11/2 ve 11/4 (mevzuat.gov.tr)
Keeping records, photos and video
As the diagnostic journey gets longer, well-kept records ease the burden of explaining the same things from the start to every new doctor.
Symptom list and developmental notes
Write down when symptoms started and how often they happen. Note developmental milestones and height and weight measurements. Keep a list of medicines taken and stopped. At the end of an appointment, you can ask for a written summary of the next steps.
Source: Genetic Alliance UK – Seeking a Rare Diagnosis (children)
Video of episodes and unusual events
The doctor often cannot see events that come and go, such as seizures. So a short phone video can help with the diagnosis. It also frees you from having to remember everything. But your child’s safety comes first. If a seizure goes on or your child turns blue, call 112 right away.
Source: NHS hasta broşürü – Your Child's First Seizure (Leeds Teaching Hospitals) · NHS GOSH – Long-term EEG monitoring (telemetry)
Photos and recording appointments
The doctor may take photos of your child to follow changes. Your consent may be requested for this. You can also record the conversation on your phone and listen to it later. But always ask for permission before recording.
Source: Genetic Alliance UK – Seeking a Rare Diagnosis (children)
e-Nabız and copies of reports
In e-Nabız (the Ministry of Health’s personal health record system) you can see lab results. Images such as X-rays and reports are there too. You can also download the hospital discharge summary (epikriz). If your child is under 18, the records are in the “Çocuklarım” (My Children) section. This also requires the other parent’s consent. The right to get copies of records is in the “Newly diagnosed” guide.
Source: T.C. Sağlık Bakanlığı – e-Nabız V.2.1 Kullanım Kılavuzu (2025)
Undiagnosed patient programs around the world
Some countries have special research programs and family networks for undiagnosed patients; they are introduced here for information only.
US: NIH Undiagnosed Diseases Program
The program started in 2008 at the US National Institutes of Health. Patients are referred by their doctors. About a third of applicants are accepted. A diagnosis was made in between a quarter and a half of cases. A diagnosis sometimes came within a week and sometimes after more than 10 years. The program generally does not provide treatment.
Japan: IRUD
In 2015, Japan launched a research program called IRUD. Its aim is to make diagnoses by combining clinical information and genetic analysis. Data are also shared with programs in other countries. In 2018, more than 400 hospitals were taking part in this system.
Source: AMED – Initiative on Rare and Undiagnosed Diseases (IRUD)
UK: SWAN UK
SWAN UK is a family support network founded in 2011. It is for families of children and young people up to the age of 25 with an undiagnosed genetic condition. It runs online forums and family meetups. Its aim is for every family to get support, with or without a diagnosis. Every year, the last Friday of April is marked as Undiagnosed Children’s Day.
Source: Genetic Alliance UK – SWAN UK (Syndromes Without A Name) · NHS England Genomics Education – Syndromes without a name (SWAN)
International network: UDNI
The Undiagnosed Diseases Network International was founded in 2014. In 2023 it had members from 41 countries. Türkiye was included in a survey this network carried out with 20 countries. Most countries reported that financial support for genetic testing was limited.
Source: Taruscio D ve ark. Front Public Health 2023 – UDNI 20 ülke araştırması · Undiagnosed Diseases Network International (UDNI)
Living with uncertainty and peer support
The hardest part of being undiagnosed is often the uncertainty; these feelings are normal, and support is available.
Grief can come and go
An interview study was carried out in the UK with 24 parents. Families described grieving for the future they had imagined. This grief had no fixed end; it could grow and ease over time. Anger, guilt and loneliness were feelings often described. Acceptance usually came slowly, not all at once.
Source: Hoffmann TM ve ark. J Genet Couns 2025 (PMID 41317142)
Focusing on what is in your hands
A survey was carried out with 266 parents of undiagnosed children. Parents who felt more in control experienced less uncertainty. These parents described gathering information and speaking up for their child. They also said they made time for their child’s comfort and for their own care.
Source: Madeo AC ve ark. Am J Med Genet A 2012 (PMID 22711240)
Meeting families on a similar path
Talking with families in a similar situation can make you feel understood and may ease loneliness. But without a diagnosis, finding the right group can be hard. Online forums can be helpful. However, the information there is often personal opinion. For patient associations and peer groups, see the “Looking after yourself as a caregiver” guide.
Source: Hoffmann TM ve ark. J Genet Couns 2025 (PMID 41317142) · Genetic Alliance UK – Seeking a Rare Diagnosis (children)
Even without a diagnosis, support should match needs
Some children may never receive a diagnosis. In this case too, education and social support should be planned according to the child’s needs. Some families choose to focus on the child’s current needs and on the time they spend together. If you feel very tired or anxious for a long time, you can talk with your doctor.
Source: Genetic Alliance UK – Seeking a Rare Diagnosis (children)
Questions to ask your doctor
You can print this list, take it to your appointment and note the answers below each question.
- Which tests have been done so far, and which have not been done yet?
- Can the exome or genome data be looked at again in the future? When and how?
- If new information comes up, who will let us know, and how? When should we come back?
- Would testing the mother and father too, or another method, help with the diagnosis?
- Which other departments would it be useful for our child to see?
- Which doctor will coordinate the follow-up?
- Can we apply for ÇÖZGER without a diagnosis? Which documents should we bring?
- Which symptoms would it help you for us to video or take notes on?
- How can we find out whether this test is covered by SGK?
- Is there a research study or registry program we could take part in?
This guide is for information only and does not replace medical or legal advice. If you notice missing or incorrect information, please write to us.