Your child has been having seizures. You’ve been hoping for answers that will bring a cure, but today you’ve received the diagnosis of Dravet syndrome, Lennox-Gastaut syndrome (LGS), or tuberous sclerosis complex (TSC) — conditions that currently have no cure.
Your picture of your child’s future has suddenly become clouded with many questions:
It’s important to take a deep breath and know that others have received the same diagnosis. Acknowledge that your life will change. Your child’s future may not be taking the course you had wished, but there will be joy and celebrations, smiles, and family memories made.
A specialist will become an important resource for your family as you navigate these uncharted waters.
Dravet syndrome, Lennox-Gastaut syndrome, and TSC are extremely uncommon. In fact, it is estimated that only 1 in every 20,000 to 40,000 children has Dravet syndrome. An estimated 3 percent to 4 percent of children with epilepsy develop LGS, according to the Lennox-Gastaut Syndrome Foundation. Approximately 1 in 6,000 newborns has TSC. Because of the rarity of these conditions, finding an expert may take some research and involve travel.
You can begin by looking to the organizations that focus their resources on these rare diseases. The Dravet Syndrome Foundation has an online list of professionals recommended by the families of children with Dravet syndrome. The LGS Foundation also offers the ability to search comprehensive lists of neurologists and epilepsy centers. The Tuberous Sclerosis Alliance has a clinic directory and also provides physician referrals. Your own neurologist may also have some recommendations.
Don’t wait to see a specialist. It is important to do your research and schedule an appointment promptly, since it may take weeks or months to secure a face-to-face meeting. With specialized information, however, you will be able to understand the features of your child’s diagnosis and get professional help creating strategies to manage symptoms and treatment options. According to the Child Neurology Foundation, “Identifying your child’s treatment needs makes access to support services easier.”
Finding a specialist who is experienced with your child’s particular diagnosis will be the foundation for building your support system and action plan.
In the weeks before your appointment, keep a log of your child’s medications, foods, and any changes in moods or behaviors. Note potential seizure triggers — such as lights, temperatures, and sleep — and the length and type of seizures. Take videos of any spells of concern. Bring all this information with you to your appointment. A valuable online tool to help you log this information is called Seizure Tracker. It allows you to include photos or videos and to print reports and graphs to bring to your first appointment and each subsequent consultation.
Your provider will ask for your child’s detailed medical history. Be prepared. Children’s Hospital of Philadelphia suggests you send your child’s medical records from treating neurologists, but also expand the scope of information to include records from genetics, metabolism, or other relevant specialists. Bring reports of outside EEGs, MRI scans, and other diagnostic studies prior to your meeting. By giving the specialist the opportunity to review previous studies in advance of your visit, you will be able to use your consultation time more effectively.
If you need a translator, find out (in advance) if one is available, or arrange to bring your own.
If the specialist you identify is located outside your region and an overnight stay is required, call the social work department at the hospital. Ask if the hospital has an arrangement with local hotels for discounts or if you would qualify for a stay at Ronald McDonald House, a nonprofit organization that provides food and shelter close to hospitals for chronically ill children, on a pay-as-you-can basis.
If possible, identify a friend or relative who can attend the appointment with you. You’ll be learning about potential learning disabilities, developmental delays, intellectual disabilities, and health problems, in addition to treatment options and side effects. You may have trouble processing the amount of information being given about your child and forget something that was recommended or interpret something incorrectly. Bringing someone you trust with you will allow them to take more objective notes, or perhaps record the session, so you can review the information together when you return home. They can also provide you and your child with valuable emotional support.
It’s natural to be anxious before this appointment. You’ve researched, planned, submitted test results, and perhaps traveled a distance to see this expert. Try to be well rested, hydrated, and fed before you attend this meeting. You want to be alert and focused. Your child is depending on you.
Remember to bring your seizure diary, a notebook and pen, and your support person, if allowed.
Take good notes during the meeting. Ask for any printed resource materials they might have on hand. Schedule a follow-up appointment. Write down and review your list of next steps with the specialist before you leave.
Getting into a routine for you and your child will require discipline and resources. Good sleep hygiene, routine medications, and following a recommended diet will be important to maximizing your child’s quality of life.
Don’t forget to use a seizure-tracking app or a written log on a daily basis to record sleep, food, triggers, medications, and other key indicators. This information will become critical in helping your doctors identify and refine the optimal medications and dosage for your child to reduce the number of seizures and minimize side effects.
As your child’s daily caregiver, your careful observations will be highly valued. However, you must follow your doctor’s recommendations, keep medications consistent (and as prescribed), and attend routine medical appointments. Have an adequate supply of both regular medication and rescue medications on hand. The doctor-parent partnership is key to successful seizure management for children with severe forms of epilepsy.
It will be important for you to take care of yourself and to leave your child in the care of someone else on occasion. Family, friends, and other qualified caregivers will need to know about your child’s needs, routines, medications, special diet, and what to do in the event of a seizure. The Dravet Syndrome Foundation recommends working with your doctor to put together a written plan to leave with your caregiver in the event of a seizure.
Before you leave your child alone with a caregiver, have that trusted person spend time with you and your child. Let them observe how you care for your child. The Epilepsy Foundation recommends letting them witness a seizure and see how it affects your child.
A helpful poster about first aid for seizures is available on the Epilepsy Foundation website. It can be downloaded, printed, and hung in a visible location for a caregiver’s quick reference. It highlights the need to stay with a person (and time the seizure), keep the person safe (move them or guide them away from harm), and turn the person onto their side (make sure their airway is clear and their head is cushioned).
A special caution should be given to caregivers for children with Dravet syndrome. “Children with DS will often elope, placing themselves in unsupervised, potentially dangerous situations,” according to the Dravet Syndrome Foundation. They may not be able to sense danger and might put themselves in hazardous situations. They also may not be able to provide their name or address if they wander off. Consequently, it is important that caregivers be vigilant and provide supervision at all times.
Here are some other ways to prepare:
In the event of an unexpected hospital stay or a disaster, it is also helpful to be prepared with a “grab and go” kit. This kit should include medications (regular and rescue), dosing information, and emergency phone numbers for your child’s neurologist.
If your child has an emergency at home, CHOC Children’s Neuroscience Institute provides these helpful guidelines for when you should call 911:
The emotional toll of caring for a child who has Dravet syndrome, Lennox-Gastaut syndrome, or TSC can sometimes be overwhelming. The physical challenge of caring for a child with a disability can also be exhausting. Knowing that your child is relying on you, it is important to take good care of yourself too.
Are you caring for a child with severe epilepsy? What advice would you give parents facing a recent diagnosis of Dravet syndrome, Lennox-Gastaut syndrome, or tuberous sclerosis complex? What do you know now that you wish you had known sooner? Comment below or post on MyEpilepsyTeam.