The Common Path

Those affected by neurologic disorders face similar issues and challenges. The insights below can help you and your child on this journey you share with so many others.

Introducing: Family Support and Empowerment Program

The CNF Family Support and Empowerment Program (FSEP) offers families a direct connection with an experienced, compassionate Peer Support Specialist to help navigate the journey of disease diagnosis, treatment, and management for a child living with neurologic condition.

Along with offering relational support, CNF Peer Support Specialists seek to empower families by sharing sound information and helpful resources. Each Peer Support Specialist receives comprehensive training about the needs of the child neurology community and ongoing mentorship as they start connecting with families.

If you’re a parent, receiving a diagnosis for your child that is life-changing can shake you to your core. Having a safe place to explore feelings of “this is not the way it’s supposed to be” is what FSEP is all about. Sharing the emotional process that often comes with a new diagnosis or living with a neurologic condition, with someone who has also experienced these feelings, can be helpful to many families. FSEP’s Peer Support Specialists are trained to listen to you along this emotional journey without judgment. In addition, you will be provided with accessible resources from CNF and/or our trusted partners.

FSEP was created so that no parent or caregiver in the child neurology community ever walks alone: We would be humbled and honored to walk with you on your journey.”

Connect with an FSEP Peer Support Specialist

If you are looking for a neurologist, our partners at the American Academy of Neurology (AAN) have a helpful “Find a Neurologist” tool that enables you to search for a neurologist by specialty, last name, city, or state. To find a neurologist who sees children and teens, select “Child Neurology” from the list under “Subspecialty.”

Please note: Peer Support Specialists are not medical providers. Support from FSEP is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your neurologist, physician, or other qualified health provider with any questions about or related to a medical condition. CNF assumes no responsibility for any injury arising out of or related to any use of FSEP and related information or for any errors or omissions.

What to do if you are worried about the neurologic health of your child?

If you are concerned about the health of your child, you should seek medical advice as soon as possible. Usually this means a visit to your child’s pediatrician or family physician. If, however, any change occurs very quickly (for example, injury or seizure) you should go immediately to the hospital emergency department.

For some neurologic disorders you will be referred to a specialist, such as a child neurologist. An initial diagnosis may be given and then a confirmed diagnosis may follow once specific assessments have been completed.

What is a pediatric or child neurologist?

Pediatric or child neurologists are specially-trained physicians who have followed up their four-year medical school education with a five-year post-graduate training regimen consisting of two years of training in pediatrics, one year of training in general neurology, and two years of training in pediatric neurology.

Child neurologists combine a special expertise in diagnosing and treating disorders of the nervous system (brain, spinal cord, muscles, nerves) with an understanding of medical disorders in childhood and the special needs of the child and his or her family and environment. Child Neurologists then take comprehensive examinations supervised by the American Board of Psychiatry and Neurology and become Board Certified in Neurology and Psychiatry with Special Competence in Child Neurology.

In many cases, child neurologists work as a team with pediatricians or other primary care physicians. In addition, child neurologists may work with other pediatric specialists to care for children who have more complex or serious medical issues, such as tuberous sclerosis muscular dystrophy or birth defects. These are chronic conditions that require ongoing care and close follow-up throughout childhood and adolescence.

Where can I find a child neurologist?

Child neurologists practice in a variety of medical settings, including children’s hospitals, university medical centers, community-based outpatient practices, private offices and clinics.

NEW! Our partners at the American Academy of Neurology (AAN) have a helpful “Find a Neurologist” tool that enables you to search for a neurologist by specialty, last name, city, or state. To find a neurologist who sees children and teens, select “Child Neurology” from the list under “Subspecialty.”

Diagnosis

The process leading to a diagnosis for a child’s condition is not always an easy one. Many questions are raised that can’t always be answered. Some neurologic disorders are usually identified and diagnosed at birth (for example, Down syndrome), but others are not detectable or do not show themselves until later in childhood (for example, autism, ADHD). Some children have multiple diagnoses.

Even if a diagnosis is given at birth, it is not always possible for professionals to know exactly how the disorder may show itself. It may be necessary to wait until developmental milestones, such as speaking and walking, are or are not achieved.

However, doing as much as possible as early as possible is vitally important in working towards the best outcome.

Why is a diagnosis important?

It is important to get a diagnosis so that you and the professionals involved can begin to understand the cause of your child’s symptoms or presenting features and identify his or her needs. Having identified the cause, professionals can design treatment strategies to help manage symptoms. Identifying your child’s treatment needs makes access to support services easier.

Diagnostic techniques

A child may be referred for a range of assessments to identify what is causing his or her symptoms. Some children with a suspected neurologic disorder may need a neurologic assessment, a neuropsychological assessment or a brain scan.

Some common brain scanning methods include:

  • Computerized tomography (CT)
    This uses X-rays to show an image of the brain. It can reveal underdeveloped parts of the brain, as well as sites of trauma, tumors, lesions or infections.
  • Magnetic resonance imaging (MRI)
    MRI uses a strong magnetic field and radio waves to create pictures on a computer of the structure of the brain. It provides clear, detailed pictures of the brain and can detect many different types of brain abnormalities.
  • Positron emission tomography (PET)
    This produces images of of the brain that reflect the brain’s functional activity amdnot just its structures. The patient receives a small injection of radioactive material into their bloodstream that is detected by special scanning methods. It has proved to be particularly useful in monitoring seizures, visual problems, tumors and metabolic processes.
  • Other assessments of physical changes
    Other techniques that can be used to investigate children for an underlying neurologic condition include:

    • Blood testing
    • Ultra-sound scans
    • Chromosome studies
    • Developmental tests
    • Electroencephalogram (EEG)
    • Electromyography (EMG)
    • Hearing assessments
    • Genetic testing
    • Genetic counseling
    • Vision assessments
    • X-rays

Further information on neurologic tests can be found on the National Institute of Neurologic Disorders and Stroke website: www.ninds.nih.gov/disorders/misc/diagnostic_tests.htm

Receiving a Diagnosis

Once your child has been diagnosed, you may require the following:

  • General information about the condition
  • A description of potential symptoms
  • Information on the management of symptoms (including who will be part of your child’s health care team)
  • Safety information
  • Details of treatment options and any risks
  • Information on the expected course of the condition
  • Information to help understand and come to terms with the diagnosis

Difficulty getting a diagnosis

In some cases, identifying the cause of a condition can be very complex. Some children have a variety of symptoms or presenting features that make it difficult to associate with any one condition. A number of different conditions have similar symptoms and features and some children may have a range of symptoms. Children also experience conditions differently. Some features of a condition may not appear until a child is older, resulting in a late diagnosis, or even a change in diagnosis.

A parent or caregiver is with a child more than anyone else and gets to know them very well. Caregivers should try to help professionals by describing symptoms and presenting features and problems accurately. Bringing in journals that describe a child’s symptoms in the home setting or even a video that captures the symptoms can be very helpful for a provider. Childcare workers, teachers or others may also notice symptoms or presenting features that could lead to a diagnosis.

What to do if you can’t get a diagnosis

It may take a long time to get a diagnosis or a child may never get a diagnosis, despite having symptoms or presenting features. A child may have a condition about which little is known and a diagnosis may not be possible at the time of initial evaluation. This does not mean that there are no treatment options available. There are many ways of treating specific symptoms and many ways to support additional needs, with or without a diagnosis. Information, advice and a range of services are available.

Ask your child neurologist or pediatrician what services are available for your child and your situation.

To learn more about how to deal with genetic or rare conditions that have no definitive diagnosis, see this information from the National Institutes of Health (NIH): Learning about an Undiagnosed Condition in a Child.

The Global Genes Project has developed a resource for people with undiagnosed conditions called “Becoming An Empowered Patient: A Toolkit For The Undiagnosed.”
https://globalgenes.org/toolkits/becoming-an-empowered-patient-a-toolkit-for-the-undiagnosed/introduction-2/

Additional resources for families of children with rare undiagnosed conditions include:

  • National Organization for Rare Disorders (NORD)
    NORD is a federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them.
  • Syndromes Without A Name (SWAN)
    Syndromes Without A Name USA (SWAN USA) is a non-profit tax-exempt organization that offers support, information and advice to families of children living with a syndrome without a name.
  • Harvard Medical School’s Family Health Guide
    Read about different types of specialists and what they do.
  • National Library of Medicine/MedlinePlus
    This site provides information about the specific symptoms your child is experiencing. It also includes general information about health problems and some of the conditions that they can be associated with. The MEDLINEplus Web site was designed to help people research their health questions.
  • GeneTests
    A searchable directory of United States and international genetics and prenatal diagnosis clinics. Go to the following link for “Find a Genetic Counselor” and click on “Clinic Directory” to find a genetic service close to you.
  • Find a Genetic Counselor
    A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. This site is hosted by the National Society of Genetic Counselors.
  • Genetic Centers, Clinics and Departments
    A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations and university genetics departments. Hosted by the University of Kansas Medical Center.
  • Office of Rare Diseases Research (ORDR)
    The Office of Rare Diseases Research is an office at the National Institutes of Health. This link provides general information about clinical trials.
  • Finding Reliable Health Information Online
    A listing of information and links for finding comprehensive genetics health information online.

Tips when meeting a health practitioner

At the appointment when your child receives a diagnosis, it’s not unusual to be overwhelmed with concern, fear, and anxiety. Caregivers are often unable to recall much of what the doctor said. While this is normal, it remains important to understand the specifics of your child’s diagnosis. Keep these tips in mind:

  • Don’t be afraid to ask questions to find out about the needs of your child. Bring a list of questions with you.
  • Take another family member or support person with you.
  • Take time to digest the information given to you. If you have English as an additional language and need translation and interpretation support, or are a signer or require other communication support, you should make this known when arranging the child neurology appointment so appropriate arrangements can be made.
  • Ask for any written information about the diagnosis (including medical details). Read this when you get home.
  • Arrange for a next appointment with the child neurologist. This will give you an opportunity to ask further questions once you have had time to digest the information.
  • Ask the practitioner to explain information to other family members so that you can discuss it further at home.
  • Ask for information on other services that can help you deal with how the diagnosis is going to affect your child and your day-to-day lives.

Special Health Care Needs

Children and youth with special health care needs (CYSHCN) are defined by the Department of Health and Human Services (HHS), Health Resources and Services Administration (HRSA), Maternal and Child Health Bureau (MCHB) as:

“Those who have or are at increased risk for a chronic physical, developmental, behavioral, or emotional condition and who also require health and related services of a type or amount beyond that required by children generally.”

This definition is broad, and it emphasizes the characteristics held in common by children with a wide variety of diagnoses.

A child with a neurologic disorder may have a range of health care needs. The best source of information about health care (including treatments) would be your child’s neurologist or pediatrician. Caregivers should be involved in developing their child’s health care plan.

A practical way to keep track of your child’s health care plan is a Care Notebook, which is a tool that can help you organize important information about your child. Bring the notebook to appointments and meetings so you can easily share information with doctors, therapists, and school or child care staff. A Care Notebook can help you:

  • Keep track of your child’s medicines or treatments
  • Organize phone numbers for health care providers and community organizations
  • Prepare for appointments
  • File information about your child’s health history including copies of consultation reports and the results of all appropriate laboratory testing results—especially the results of brain imaging studies, genetic testing and electroencephalographic testing
  • Share new information with your child’s primary doctor, public health or school nurse, daycare staff, and others caring for your child

Seattle Children’s Hospital’s Center for Children with Special Needs provides a Care Workbook Quick Guide and Template for your use. The National Center for Medical Home Implementation offers additional information about care notebooks and how to develop one that meets your needs: www.medicalhomeinfo.org/for_families/care_notebook/

Feelings

In coming to terms with a diagnosis of a neurologic disorder, parents and caregivers may experience:

  • Shock, denial and disbelief
  • Anger and rage
  • Stress and depression
  • Grief and fear – for your child or for the family as a whole
  • Acceptance and adjustment – the realization that a lot can be done to improve the situation
  • Fight and hope – the optimism that comes from dealing with challenges and seeing positive progress in your child. Your culture and your religion or beliefs background also may be a source of support for you at this time.

Not all families experience these emotions, but it is helpful to understand that possible reactions could occur and to realize they are totally normal. Every family is different and may progress through stages in different ways.

The CNF Family Support and Empowerment Program (FSEP) offers families a direct connection with an experienced, compassionate Peer Support Specialist to help navigate the journey of disease diagnosis, treatment, and management for a child living with neurologic condition. Along with offering relational support, CNF Peer Support Specialists seek to empower families by sharing sound information and helpful resources. Connect with a Peer Support Specialist today.

You may find this article from the Center for Parent Resources and Information helpful: You Are Not Alone – For Parents When They Learn Their Child Has a Disability

This video, “What has your experience as a parent of a child with special health care needs been like?” was developed by the National Center for Medical Home Implementation (NCMHI). The NCMHI is a cooperative agreement between the Maternal and Child Health Bureau and the American Academy of Pediatrics with a mission to ensure that every child and youth has access to a medical home. For more information, visit the National Center for Medical Home Implementation.

Looking After Yourself

Following a child’s diagnosis, it is important for caregivers to talk about feelings and emotions with trusted people. They can be supported by family, friends, professionals or other caregivers in the same situation. Managing the daily care of your child is very demanding. It can have an impact on your relationships with your partner, other family members and friends.

There are many things you can do to cope with stress:

  • Take a break to recharge yourself or ask for help.
  • Give yourself time each day —10 minutes or more — to do something you like.
  • Set a limit on how much time you will spend looking or reading through the large quantity of information available to you.
  • Don’t feel you have to look for everything at one time.
  • Tell your child’s doctor how you are doing. Ask him or her to help you focus on what is most important.
  • Share your feelings with your family, friends, other parents, doctors, and nurses.

You might find it helpful to join a local support group or to spend time with other caregivers who have children with additional needs. They may have found ways of dealing with issues that you find particularly stressful.

If you feel that you have reached a real crisis point, it may help to:

  • Call a support line. Many voluntary organizations provide a free helpline to assist you in getting through difficult times. Contact details for these and other support organizations are found in our Disorder Directory, as well as on our Partners page.
  • Contact your doctor, who may provide contact details for your local counseling service.

Source: National Children’s Bureau. Crown copyright. Information about neurological disorders.  www.ncb.org.uk/media/875206/earlysupportneurologicaldisorderspart1final.pdf