Guide
Newly diagnosed: first steps
Receiving a rare diagnosis can be overwhelming. This guide walks you, step by step, through what to focus on in the first weeks, what to ask your doctor and where you can find support.
The first days
In the first days after learning the diagnosis, you do not have to solve everything at once; first, give yourself room to breathe.
What you are feeling is normal
Difficult news affects everyone differently. You may feel anger, disappointment, sadness or emotions similar to grief. Some families focus first on learning about the condition. No reaction is wrong.
Source: Genetic Alliance UK – Living with a genetic, rare or undiagnosed condition · Genetic Alliance UK – Seeking a Rare Diagnosis (children)
Give yourself time
You do not have to learn everything in the first week. Write down your questions and ask them at the next appointment. Bringing someone you trust to appointments can help with taking notes and with support.
Source: Genetic Alliance UK – Seeking a Rare Diagnosis (children)
Asking for support with stress and anxiety
Do you feel very tense, anxious or exhausted for a long time? Talk about it with your family doctor or your child’s doctor. Do not hesitate to ask about psychological counseling options.
Source: Genetic Alliance UK – Seeking a Rare Diagnosis (children)
ALO 183 Social Support Line
The ALO 183 line (social support hotline) of the Aile ve Sosyal Hizmetler Bakanlığı (Ministry of Family and Social Services) provides guidance and counseling for families, children and people with disabilities. The line is open 24 hours a day, 7 days a week. Calls from within Türkiye are free of charge.
- Dial 183 from your phone.
- Briefly describe your situation and what kind of support you need.
Source: T.C. Aile ve Sosyal Hizmetler Bakanlığı – ALO 183 Hakkında
Understanding the diagnosis
Having the full name of the condition, its code and the medical report at hand makes every later step easier.
Learn the full name and code of the condition
Ask your doctor for the full name of the diagnosis in writing. Rare diseases have a unique number in Orphanet called the ORPHA code. Your report may also include an ICD code. These codes make it easier to reach the right information and the right specialist.
Get a copy of the report and records
Under the Hasta Hakları Yönetmeliği (Patient Rights Regulation), the patient or their legal representative may examine the files and records concerning their health and obtain a copy. As a parent, you can exercise this right for your child. Keep copies of the epikriz (discharge summary), genetic test results and reports.
Source: Hasta Hakları Yönetmeliği, Madde 16 (mevzuat.gov.tr)
Go to appointments prepared
Write down your questions in advance. If there is something you do not understand, ask for it to be explained again. If you would like to record the conversation, ask for permission first. You may request a written summary of the consultation and the next steps.
Source: Genetic Alliance UK – Seeking a Rare Diagnosis (children) · MedlinePlus Magazine – GARD can help
Identify a doctor who coordinates follow-up
The doctor who made the diagnosis or the specialist who follows your child can be the person who coordinates care. Clarify with your doctor who will be in charge of follow-up.
Source: Genetic Alliance UK – Living with a genetic, rare or undiagnosed condition
Reaching the right specialist
With rare diseases, it can take time to reach an experienced team; a few practical routes can make the process easier.
Which specialties?
Depending on the condition, different specialties may be involved in follow-up. For example, pediatric metabolism, medical genetics, pediatric neurology or hematology. Discuss which specialties are needed with the doctor who made the diagnosis. Medical genetics outpatient clinics serve patients with a suspected genetic disease. This service covers clinical diagnosis, follow-up and genetic counseling.
Booking appointments via MHRS
You can book appointments at state hospitals through MHRS (Central Physician Appointment System). There are three ways: mhrs.gov.tr, the MHRS mobile app and ALO 182. You can also log in with your e-Devlet (Turkish e-Government portal) password. For example, an appointment at a medical genetics outpatient clinic can also be booked through MHRS.
- Go to mhrs.gov.tr or call ALO 182 (hospital appointment line).
- Select the province, hospital and clinic.
- Write down the appointment details.
Researching experienced centers
Orphanet offers directories of expert centers, patient organizations and diagnostic tests. The expert center directory can be filtered by country and specialty. Evaluate any center you find together with your doctor.
Asking for a second opinion
Under the Hasta Hakları Yönetmeliği (Patient Rights Regulation), patients have the right to change their physician. They also have the right to request consultation with other physicians. In some cases, a fee difference set by the regulations may have to be paid. Do you feel you have not been heard? Then getting a second opinion is a reasonable step. You can discuss this openly with your doctor.
Source: Hasta Hakları Yönetmeliği, Madde 9 (mevzuat.gov.tr) · Genetic Alliance UK – Seeking a Rare Diagnosis (children)
Genetic counseling and the family
A genetic diagnosis may concern not only your child but other family members as well; genetic counseling is a space to talk through these questions.
What is genetic counseling?
Genetic counseling helps you think through what a genetic test and its result mean for you and your family. The pros and cons of testing, how the condition might affect relatives and the likelihood of passing it on to children are discussed. The counselor can also refer you to support groups. Even if you decide not to be tested, you will continue to receive care and support.
Siblings and relatives
If a genetic change has been found, the doctor may recommend testing for other family members as well. This way, relatives can find out whether they carry the same change. Who may need testing? Discuss this during genetic counseling.
Future pregnancies
Are you thinking of having another child? It is helpful to discuss the options with a medical genetics specialist before pregnancy. The Sağlık Bakanlığı (Ministry of Health) SMA program page mentions carrier couples. According to the page, these couples are given genetic counseling. They are also given information about the following options: prenatal diagnosis and pre-pregnancy (preimplantation) genetic diagnosis. You decide together with your doctor which option is right for you.
Source: HSGM – Evlilik Öncesi SMA Taşıyıcı Tarama Programı · NHS – Genetic and genomic testing
Newborn screening program
In Türkiye, a heel-prick blood sample is taken from newborn babies. This blood is used to screen for six diseases. These are phenylketonuria, congenital hypothyroidism and biotinidase deficiency. Cystic fibrosis, congenital adrenal hyperplasia and spinal muscular atrophy (SMA) are also screened. SMA screening was added to the program on 9 May 2022. The aim of screening is to detect these diseases early. This way, appropriate treatment can start early.
Source: HSGM – Yenidoğan Tarama Programı
Premarital screening
Couples who apply to their family doctor for a marriage health report undergo two screenings. Hemoglobinopathy screening (for inherited blood disorders such as thalassemia and sickle cell anemia) has been carried out in all 81 provinces since 1 November 2018. SMA carrier screening has been available in all 81 provinces since December 2021 and can also be performed for married couples who want to have children. Blood is first taken from the male partner; if carrier status is suspected, a sample is also taken from the female partner.
Source: HSGM – Evlilik Öncesi Hemoglobinopati Tarama Programı · HSGM – Evlilik Öncesi SMA Taşıyıcı Tarama Programı
Daily life and keeping records
A well-kept file makes communication with different doctors, the school and caregivers much easier.
Care notebook / file
Note the symptoms, when they started and how often they occur. Record all appointments, test results and the recommendations you are given. Ask for copies of your records.
- Diagnosis report and genetic test result
- Laboratory tests and imaging results
- Medications in use and their doses (as prescribed by the doctor)
- Hospital admissions and epikriz (discharge summaries)
- Contact details of the doctors and institutions involved in follow-up
- Developmental milestones and symptom notes
Source: Genetic Alliance UK – Seeking a Rare Diagnosis (children) · Hasta Hakları Yönetmeliği, Madde 16 (mevzuat.gov.tr)
Emergency information card
Orphanet prepares emergency guidelines and credit-card-sized emergency cards for some rare diseases. The card contains brief recommendations for emergency teams and personal health information, and is intended to be carried by the patient. Ask your doctor whether such a card or a written emergency plan exists for your condition.
Source: Orphanet Journal of Rare Diseases – Emergency guidelines and emergency cards (PMC)
Information for the school and caregivers
It is important that the school and caregivers know about your child’s condition, medications and what to do in an emergency. Base this information on written recommendations from the doctor. Update the information whenever the health situation changes, or at least once a year.
Source: NHS (Leicestershire Partnership) – Individual health care plans
You are not alone
Other families living with the same diagnosis and reliable sources of information can accompany you on this journey.
Connecting with patient organizations
It is worthwhile to find out early on whether there is an association or support group specific to your child’s condition. Especially for little-known conditions, these groups are an important source of support and information. Orphanet and EURORDIS offer directories for finding patient organizations.
Source: Genetic Alliance UK – Living with a genetic, rare or undiagnosed condition · EURORDIS – Information on your disease
Nadir Hastalıklar Federasyonu
In Türkiye, the Nadir Hastalıklar Federasyonu (Rare Diseases Federation) brings together different patient associations. The federation’s website also uses the name Nadir Hastalıklar Ağı (Rare Diseases Network). Some of its founding members are the PKU Aile Derneği (PKU Family Association), the Sistinozis Hastaları Derneği (Cystinosis Patients Association) and the Williams Sendromu Derneği (Williams Syndrome Association). You can contact it at [email protected].
Source: Nadir Hastalıklar Federasyonu
Reliable sources of information
Orphanet is a directory. It contains information on rare diseases, expert centers and patient organizations. Diagnostic tests and clinical research are also included in this directory. On the Rare Disease Day website, you can read about other families’ experiences. You can find these experiences by condition and by country. Orphanet is currently not available in Turkish. When reading its pages, ask your doctor about anything you do not understand.
Be careful on social media
Not all information on the internet and social media is accurate. Even patient organizations and information sources state clearly that they cannot answer medical questions. Always talk to your doctor before trying any treatment or recommendation you have read about.
Source: EURORDIS – Find medical expertise · EURORDIS – Information on your disease
Questions to ask your doctor
You can print this list, take it to your appointment and note the answers below each question.
- What is the full name of the condition? What are its ORPHA code and ICD code? Can you give me this in writing?
- Which test was the diagnosis based on? Can I get a copy of the result and the report?
- How might this condition affect my child in the future? What do we need to monitor?
- Who will coordinate follow-up? Which other specialties do we need to see?
- How often will check-ups take place? Which tests will be repeated?
- Which symptoms mean we should go to the emergency department immediately? Is there a written plan or card for emergencies?
- Is this condition hereditary? Where can we go for genetic counseling?
- Could siblings or other relatives be affected? Do they need to be tested?
- If we want to have another child, which options should we discuss?
- Is there a center experienced with this condition, or somewhere you can recommend for a second opinion?
- Can you provide written information for the school and caregivers?
- Can you recommend a reliable source of information or a patient organization?
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.