Questions about rare diseases?
1-888-205-2311
Questions about rare diseases?
1-888-205-2311

Diagnostic Journey

Here, discover the type of medical professionals that can help, tools for finding them, and tips for getting the most out of your care as you navigate to a diagnosis. The process of getting a rare disease diagnosis can take several years. Finding the right medical professionals to collect and make sense of your medical information can be challenging. Diagnosis may come through a primary care provider, or after specialized testing and referrals. Though the challenges are similar, everyone’s diagnostic journey is different because everyone’s story is too.

Your Medical Team
Appointments and Diagnostic Evaluations
Care Coordination
Rare Disease Experts
Your Medical Team
Appointments and Diagnostic Evaluations
Care Coordination
Rare Disease Experts

Your Medical Team

What should I expect when building a medical team?

Building a medical team can help speed diagnosis and improve medical care. The primary care provider (PCP) is usually the center of the team. Your health care providers may refer you to other specialists for evaluation and treatment of developing symptoms. Your medical team may change as your medical needs change over time.

Understanding which doctors treat which body systems can help you find the best care for your disease.

Members of the medical team for Chromosome 20p deletion may include:
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Additional specialists may include:

Appointments and Diagnostic Evaluations

Your relationship with your doctor is personal. Finding a doctor you can trust to provide you with the best options and course of treatment is a critical part of your health journey. To begin building this relationship, be prepared to share your medical history and that of your family members. Doctors will ask for this information, usually at the first visit. It is important to write down:
  • When your symptoms began
  • How the symptoms changed over time
  • Previous doctor visits and tests
  • Any treatments that have been tried.
The following tools may help you gather the information you need:

Milestone Tracker App [CDC]
Tracks a child's milestones from age 2 months to 5 years with Center for Disease Control and Prevention's (CDC) easy-to-use illustrated checklists. Also offers tips from CDC for encouraging a child's development and what to do if a parent or guardian is ever concerned about how their child is developing.

Patient's Toolkit for Diagnosis [Society to Improve Diagnosis in Medicine]
Provides a downloadable set of prompts and questions to help encourage participation and partnership with medical professionals. The Patient's Toolkit was designed for patients visiting their healthcare provider to help tell their story clearly.

Family History Tool [CDC]
Explains the importance of collecting family health history and sharing family health history with doctors. Also provides links to tools to help collect family history. 

Your relationship with your doctor is personal. Finding a doctor you can trust to provide you with the best options and course of treatment is a critical part of your health journey. To begin building this relationship, be prepared to share your medical history and that of your family members. Doctors will ask for this information, usually at the first visit. It is important to write down:
  • When your symptoms began
  • How the symptoms changed over time
  • Previous doctor visits and tests
  • Any treatments that have been tried.
The following tools may help you gather the information you need:

Milestone Tracker App [CDC]
Tracks a child's milestones from age 2 months to 5 years with Center for Disease Control and Prevention's (CDC) easy-to-use illustrated checklists. Also offers tips from CDC for encouraging a child's development and what to do if a parent or guardian is ever concerned about how their child is developing.

Patient's Toolkit for Diagnosis [Society to Improve Diagnosis in Medicine]
Provides a downloadable set of prompts and questions to help encourage participation and partnership with medical professionals. The Patient's Toolkit was designed for patients visiting their healthcare provider to help tell their story clearly.

Family History Tool [CDC]
Explains the importance of collecting family health history and sharing family health history with doctors. Also provides links to tools to help collect family history. 

It's important to set goals for your visit and write down the questions you have before your appointment. Decide beforehand which questions are most important to have answered. Preparing a list of symptoms most affecting your quality of life may also help to focus the conversation.

For more information, visit the following:

Question Builder App [AHRQ]
Explains how the App helps patients and caregivers prepare for medical appointments and maximize visit time. Links to download the free App are also provided.

Talking With Your Doctor or Health Care Provider [NIH]
Includes three short videos about preparing for a doctors visit, talking openly with a doctor, and understanding diagnosis and treatment. Also provides links to other resources to help patients and families play an active role in their health care.

Talking With Your Doctor [MedlinePlus]
Offers tips and more resources to improve communication with a doctor during a medical visit.

Mental health support is available for patients and caregivers who are coping with the stress that can come with having a rare disease. The National Alliance on Mental Illness offers guidance on the different types of mental health professionals .

APA Psychologist Locator
Your level of comfort with a psychologist is important. Talking with them about their services can help you find someone with whom you feel at ease. Use the American Psychological Association tool, your location, and the Refine Search menu to find local options. The psychologist’s practice areas, treatment methods, licensure, and contact information is provided. 

Find a Therapist
Rare patients and caregivers may find counselors and therapists specializing in chronic illness, stress, or grief to be helpful. The types of therapy offered will vary depending on the therapist's specific training program. Use the Psychology Today's Therapy Directory menus to refine your search.

Find a Psychiatrist
Psychiatrists are medical doctors that diagnose, treat, and manage diseases that affect mental, emotional, and behavioral health. They can provide therapy and prescribe medications. Psychiatrists can be hard to find in some areas. Using the American Psychiatric Association tool, you may need to expand your mile radius or search by state. Primary care doctors and insurance companies can also help you explore options.

Once your health care provider gathers some basic information such as your medical history and any previous diagnoses, they will perform a physical exam.

During the physical exam, the health care provider will look for physical signs of a medical problem, such as pain and swelling or the presence of liquid or solid masses within the body. The methods used during the exam may differ, depending on the symptoms, but are common and routine procedures.

Depending on the information gathered and the results of the physical exam, your health care provider may recommend specific lab tests, such as a blood draw; imaging studies, such as an X-ray or MRI; or clinical procedures, such as a hearing test. If any of your symptoms worsen or change after your physical exam, it is important to follow up with your health care provider.
Once your health care provider gathers some basic information such as your medical history and any previous diagnoses, they will perform a physical exam.

During the physical exam, the health care provider will look for physical signs of a medical problem, such as pain and swelling or the presence of liquid or solid masses within the body. The methods used during the exam may differ, depending on the symptoms, but are common and routine procedures.

Depending on the information gathered and the results of the physical exam, your health care provider may recommend specific lab tests, such as a blood draw; imaging studies, such as an X-ray or MRI; or clinical procedures, such as a hearing test. If any of your symptoms worsen or change after your physical exam, it is important to follow up with your health care provider.
Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Results from genetic testing can confirm or rule out a suspected genetic disease, help determine a person’s chance of developing a genetic disease, or help determine a person’s chance of passing on a genetic disease. 

Because Chromosome 20p deletion is considered a genetic disease, you may want to ask your health care team if genetic testing is right for you. Different factors, such as types of genetic tests, return time for results, and cost, can vary widely depending on the nature of your disease or where you find yourself in your diagnostic journey. Learn more about genetic testing from the National Human Genome Research Institute (NHGRI).
In many cases, health care providers may recommend clinical procedures be performed to help determine a diagnosis. Clinical procedures may include a range of different tests depending on your body system being evaluated.

Procedures may be performed by a variety of health care providers, including nurses, physician's assistants and lab technicians, before results are reviewed by your doctor. In many cases, clinical procedures performed on the path to a diagnosis will be out-patient procedures that are likely to require a referral from your PCP.

Learn more about clinical procedures your doctor may recommend.
Laboratory (lab) tests may be ordered by your health care provider to check a sample of your blood, urine, or body tissues to help diagnose your disease. The type of lab tests ordered will depend on your symptoms and the diseases being considered.

Learn more about the type(s) of lab tests your health care provider may recommend.
Talk to a doctor to learn if any imaging studies are suggested to diagnose or manage this disease.

Diagnostic imaging studies let doctors look inside a patient's body for clues to help diagnose or manage a disease. The type of imaging study a doctor chooses depends on a patient's symptoms and the part of the body being examined.

If a doctor recommends an imaging study, additional information about the study may be available on Diagnostic Imaging [MedlinePlus].

Care Coordination

Coordination between patients, caregivers, and providers is important. Medical care is safer and more effective when your providers actively communicate with you and each other. Good coordination within your team can prevent unnecessary medical tests and can lead to better outcomes. You may need to sign consent for release forms to allow your providers to communicate with each other, so it is helpful to keep a list of providers and their contact information.

Care Coordinator Approach

Often, multiple specialists are needed to diagnose and care for a person with a rare disease. Communication between doctors can shorten the time to a diagnosis and ensure that a care plan meets all of your needs. Primary care providers (PCPs) usually serve as care coordinators. They maintain medical records and share information with different specialists.

In some cases, a patient or caregiver may take on the role of care coordinator. Resources provided by patient organizations can help patients or caregivers navigate this role.

Find a primary care provider in your area using Care Compare 'Doctors & clinicians' by typing in your zip code and selecting "General practice" as the specialty (directory by the Centers for Medicare & Medicaid Services).

Integrated Approach

In some instances, a team of professionals that work together at a research or teaching hospital may be used to holistically care for your disease rather than coordinating care among individual specialists from different locations.

These hospitals tend to be associated with universities or research facilities and usually have the latest technologies that may not be found in standard hospitals/clinics.

Find hospitals in your area using Care Compare 'Hospitals' by typing in your zip code (directory by the Centers for Medicare & Medicaid Services).

Rare Disease Experts

How can I find an expert?

It can be hard to find experts as there may only be a few in your state, region, or country. Experts often work at large research or teaching hospitals. These hospitals rely on a group of experts, often with diverse training. Experts can help when a diagnosis remains unknown despite extensive efforts.

You can ask your medical providers for help finding an expert. You can also use directory tools to search.

The following organization maintains a listing of expert centers for a broad range of rare diseases:
Salesforce Alt Text

Rare Disease Experts

How can I find an expert?
Salesforce Alt Text

It can be hard to find experts as there may only be a few in your state, region, or country. Experts often work at large research or teaching hospitals. These hospitals rely on a group of experts, often with diverse training. Experts can help when a diagnosis remains unknown despite extensive efforts.

You can ask your medical providers for help finding an expert. You can also use directory tools to search.

The following organization maintains a listing of expert centers for a broad range of rare diseases:

Advocate for Yourself

Maintaining open and honest communication with your health care providers will prove crucial to helping you get the most out of the healthcare system, regardless of where you find yourself on the path to diagnosis.

For Those Who Have a Diagnosis

While a diagnosis may come as a relief, it can also come with questions and concerns. Though many rare diseases do not have a cure, research is ongoing and new treatments are constantly being developed. Even when a cure does not exist, specific symptoms can often be managed. Connecting with other patients who have received the same diagnosis can be a great source of information, resources, and support.

GARD lists patient organizations on our rare disease pages.

For Those With a Working Diagnosis

A working diagnosis means the doctor has a good idea about the cause of a patient's symptoms, but not enough evidence to say for certain. Monitoring changes in a patient’s health and responses to various treatments may offer further clues. It is important to track new and ongoing symptoms, follow the management plan, and continue meeting regularly with the doctors. Additional testing and referrals may be needed to make a firm diagnosis. 

Working Diagnosis: Discuss What Happens Next by Asking These Key Questions  (Society to Improve Diagnosis in Medicine)

For Those Who Are Still Undiagnosed

Some will remain undiagnosed despite an extensive medical evaluation. Many doctors have limited experience diagnosing rare diseases. In addition, rare diseases can have symptoms that are hard to detect or that may have many possible causes. In some cases, patients may have more than one condition. It is very important to keep meeting with the doctors. More tests and specialist referrals may be needed. Research opportunities and programs focused on the undiagnosed may offer additional ways to solve medical mysteries.

Contact GARD for help finding resources for the undiagnosed.

GARD Information Specialists can help you find resources if you are still seeking a diagnosis.

Please contact GARD if you need additional assistance.
1-888-205-2311
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Contact Form
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
GARD Information Specialists can help you find resources if you are still seeking a diagnosis.

Please contact GARD if you need additional assistance.
1-888-205-2311
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Contact Form
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
About the Disease

Learn about symptoms, cause, support, and research for a rare disease. 

Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Living With the Disease

Find resources for patients and caregivers that address the challenges of living with a rare disease.

Living With the Disease

Find resources for patients and caregivers that address the challenges of living with a rare disease.

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Last Updated: November 2023