DEE Health Care team

Developing Your Healthcare Team for DEEs

One of the most important lessons families with children with complex seizure disorders learn is taking charge of building a healthcare team for their loved one. Many early signs of emerging developmental and epileptic encephalopathy (DEE) may be hard to detect. However, due to knowing and observing their child closely, families often have sound instincts that “something is really off.”

Families suspecting their child may have a complex seizure disorder with or without developmental delays should consider the following steps in building a tailored healthcare team to assure your child’s early diagnosis and optimal treatment.

Build your team around a doctor who is a specialist in rare epilepsies in children

There is little to lose and a lot to gain by seeking out a doctor with special expertise in early onset childhood epilepsy as early as possible. You may want to seek out a pediatric epileptologist (a neurologist who specializes in treating epilepsy in children) rather than a general child neurologist, who focuses on all disorders of the brain, including epilepsy.

A pediatric epileptologist with this expertise will oftentimes be found at a specialized epilepsy center – either through a Children’s Hospital or other teaching/university affiliated hospital. Epilepsy Centers have various levels of capabilities – try to find a “Level 4” center if possible. Epilepsy Centers are certified by and can be identified through the National Association of Epilepsy Centers.

After receiving a diagnosis, families usually benefit from identifying a team of specialists in your child’s specific disorder (e.g. Dravet Syndrome or CDKL5). This typically involves a pediatric epileptologist, and often other specialists such as geneticists. This is important since each condition is not only rare, but often remarkably diverse – so you will want a specialist who follows the quickly emerging literature to get the best treatment for your child.

Patient organizations are often a good source for information on either dedicated treatment centers or individual clinicians. Visit the Rare Epilepsy Network for a list of patient organizations in over 60+ rare epilepsies.

If specialty centers with disease-specific expertise are challenging to get to, consider using them as consultants who can work in partnership with your local provider, sharing expertise and insights into the condition, complexities, and treatments. Oftentimes centers with specialty expertise will provide a telehealth consultation where they will review your child’s history, along with results of their testing, and provide advice about next steps.

Finding the right team of medical professionals is critical – you need providers that you are confident in, who listen to you, and talk to you in a voice you understand. Ideally, find doctors who takes a holistic view of your child beyond the epilepsy, assuring you get appropriate support for the wide range of other medical issues often referred to as comorbidities. The goal is to find providers who will collaborate with you and other professionals on the team. You want them to be accessible and understand the often-difficult decisions/tradeoffs you will be required to make on your child’s behalf.

If no known cause has been found for your epilepsy, find a doctor willing to pursue genetic testing

Many pediatric epileptologists are comfortable doing genetic testing. If not, you should discuss referral to a geneticist. There is no one test to diagnosis for all genetic epilepsies. Find more information on various tests to identify the specific causes of each child’s epilepsy.

At times, insurance may deny genetic testing. However, epilepsy panels can be done free of charge through Invitae for children under 8 years of age.

The field of genetics is evolving rapidly. With new causes of epilepsy being found and information for variants originally identified as having unknown significance (or VUSs), it is important to have genetic reports reviewed or additional testing done every 2 years. A geneticist is often a key member of your healthcare team, even if you do not see them very often.

Get referred to a Complex Care Team

Many children’s hospitals have a complex care team, often managed by doctors who help integrate the care for complex cases. A complex care team might assist in integrating treatment by a range of specialists including for example, a neurologist, neurosurgeon, gastroenterologist, pulmonologist, endocrinologist, neuropsychologist, physical medicine specialist, social worker, and other specialists. They are often extremely helpful to families in troubleshooting a wide range of problems and challenges in their children’s care. If such a program is not available, you will want to cultivate the right relationship with either your primary care doctor, neurologist, or epileptologist to be sure you have someone who is focusing on your child as a whole and coordinating care across many specialties.

Enroll in your local early intervention program

Seek out assistance from your local early intervention program, provided by law in every state, which provides services for babies and young children with developmental delays and/or disabilities and support for their families. Services may include speech therapy, physical therapy, and other types of services based on the needs of the individual child and family.

Medical specialists in physical medicine and related therapies will be available through the Physical Medicine and Rehabilitation unit in your hospital. They are often critical for getting referrals for equipment support needs (such as orthotics, a wheelchair, walker aid, specialized bathing equipment etc.)

Identify your support network

Parents of children with complex medical conditions are so laser focused on getting help for their children that they often neglect support for themselves and their family. Support services should be available through your hospital, other public (e.g. country, state and county programs) or private support service programs, or possible peer-support programs through your rare disease community. Families should prioritize getting some respite care for the “marathon” of caring for your child.

Support services may also be helpful in determining whether your child may be eligible for a Medicaid waiver program in your state, which often provides substantial support for the care of medically complex children. Some states have a long wait list for waivers, so as soon as you see the potential need for services like skilled nursing or respite care, sign up. There are also ways to expedite this process if your child meets certain care criteria. These systems can be difficult to maneuver, but most states have advocates ready to help you.

Consider pediatric hospice for palliative care, if appropriate

Pediatric hospice or palliative care can be helpful to families with children whose condition is considered life threatening - death does not need to be imminent for these teams to be involved. It is quite different than adult hospice because it can be provided along with treatments meant to cure. It can begin at any age and at any stage of an illness. Such programs often provide much needed support for families including assistance in coordinating care across many providers and even managing prescriptions and insurance appeals. Palliative care benefits both the child and the family by focusing on efforts to relieve the symptoms, pain and emotional wear-and-tear that makes managing a complex medical condition so difficult for the child and the family. For a guide to pediatric hospice care provided by the American Academy of Pediatrics, visit the Healthy Children’s website.

Authored By: 
JayEtta Hecker, DEE-P Connections
Authored Date: 
02/2021
Reviewed By: 
Kim Nye, TESS Research Foundation
Yssa DeWoody, Ring14 USA
on: 
Monday, March 1, 2021