CAUSES
It’s important to get a diagnosis from medical professionals in order to:
- Try to understand the cause
- Help address the child’s needs
- Identify the best treatment
- Access support services and find a community
In some cases, finding the cause of a disorder can be very difficult. This is because:
- Children can have many different symptoms.
- Different disorders may have similar symptoms.
- The same disorder can affect children in different ways.
- Symptoms may not appear until a child is older.
A parent or caregiver is usually with the child more than anyone else. They can help medical professionals gather information by:
- Describing symptoms and conditions accurately
- Documenting symptoms with a journal or video
- Talking with others who may work with the child on a regular basis, like:
- Childcare workers
- Teachers
- Preparing for an initial visit with a child neurologist by using the CNF toolkit.
LABORATORY INVESTIGATIONS
A child may need different assessments to find the cause of their symptoms. Tests include:
- Neurologic assessments
- Neuropsychological assessments
- Brain scans
Common brain scanning methods include:
Computerized tomography (CT).
Magnetic resonance imaging (MRI).
Positron emission tomography (PET).
This also takes images of the brain. However, PET shows more than structures. It shows how the brain is functioning in real time. A small dose of radioactive material is injected into the bloodstream. This can help detect cells that are not functioning normally in the brain. A PET scan can help evaluate, diagnose, and monitor seizures and tumors.
Other techniques can be used to evaluate children for an underlying neurologic condition. They include:
Blood tests.
Ultrasound scans.
Chromosome studies.
Developmental tests.
Electroencephalography (EEG).
EEG monitors the brain’s electrical activity through the skull. It helps diagnose:
- Seizure disorders
- Other disorders that affect the brain’s activity
Electromyography (EMG).
Hearing assessments.
Genetic testing.
Genetic counseling.
Vision assessments.
X-rays.
GENETIC TESTING
Child Neurology Foundation Webinars
- “Knowing the Name of a Gene Can End Your Diagnostic Odyssey and Begin the Search for Treatment”
- “Shortening the Diagnostic Odyssey: The Role of Genetic Testing”
For more information, please see the Child Neurology Foundation’s Shortening the Diagnostic Odyssey and Genetic Testing pages.
Child Neurology Disorder Directory
The CNF Disorder Directory includes a few hundred neurologic disorders with medically vetted information, resources, and specific clinical trials for each one. The search feature in the directory allows you to type in your child’s symptoms and/or known medical conditions to search the entire directory. This may provide information that you can then discuss with your child’s medical providers.
CURE (Complex Undiagnosed Rare and Extraordinary) brings together a community of extraordinary parents of children with undiagnosed, rare, and complex medical conditions, to learn, share and support each other in their long journey. CURE has virtual meetings, resources, and hosts a private Facebook group.
EURORDIS — Rare Diseases Europe
EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 1000 rare disease patient organisations from 74 countries that work together to improve the lives of over 300 million people living with a rare disease globally. EURORDIS connects patients, families, and patient groups and brings together all stakeholders to shape research, policies and patient services. EURORDIS is engaged in advocacy for undiagnosed rare diseases and has a dedicated section on Diagnosis, with information on newborn screening, research, and diagnostic odyssey.
Global Genes provides hope by helping rare disease and undiagnosed patients find and build communities around the world. Global Genes can also provide access to information and resources, as well as a connection to researchers, clinicians, industry, government, and other stakeholders. The Global Genes Rare Concierge – Patient Services is offered at no cost for patients, caregivers, and healthcare providers to help navigate the complex world of rare diseases. Each year, Global Genes convenes one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies at the RARE Patient Advocacy Summit. Another resource created in partnership with the National Alliance for Caregiving (NAC) is The Circle of Care Guidebook for Caregivers of Children with Rare and/or Serious Illnesses.
National Institute of Neurological Disorders and Stroke (NINDS)
The National Institute of Neurological Disorders and Stroke (NINDS) is working on solving the mysteries of the brain and nervous system to improve health. The Neurological Diagnostic Tests and Procedures Fact Sheet provides information about the types of exams and testing for neurological disorders.
NIH National Human Genome Research Institute
The NIH National Human Genome Research Institute (NHGRI) is focused on advances in genomics research. They collaborate with the world’s scientific and medical communities to enhance genomic technologies that accelerate breakthroughs and improve lives. The Undiagnosed Condition in a Child FAQ page provides answers to what it means to have an undiagnosed condition and information about participating in clinical trials.
Rare and Undiagnosed Network (RUN)
RUN stands for the Rare & Undiagnosed Network. They are a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision: To empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support.
RARE-X is a nonprofit organization that enables patients and disease communities to easily collect, manage, and share their health data through best-in-class technology and patient support. RARE-X is committed to transforming rare disease by ensuring that clinicians, researchers, and drug developers have access to ‘The Right Data at the Right Time,’ powered by patients’ data.
Undiagnosed Diseases Network (UDN)
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. UDN Participant Engagement and Empowerment Resource (PEER) is made up of patients and family members who have participated in the UDN. PEER provides resources and support for UDN patients and families across the country. Other resources include: A Guide to Sequencing; A Guide to RNA Sequencing; and Participants Pages which connects other families, clinicians, and researchers.
Publications
UNDIAGNOSED is a feature-length documentary film that combines science and compelling human drama to recognize a little-known issue devastating families worldwide: undiagnosed illnesses. Four families explore why the medical system is failing this population and how studying them will advance medicine for humanity. With the power of community, they push against rapid degeneration to find answers.
UNDIAGNOSED is the culmination of 9 years of work by Dr. Katia Moritz, the director and an undiagnosed patient herself — supported by an extraordinary team that includes Oscar and Emmy winning filmmakers, world-renown scientists, and leading genetic technology companies.
