Please select one topic from suggested menu
Seizure Medications and Air Travel
Always take extra medication! Many families are in the habit of taking medications in their checked luggage and then also extra in their carry-ons for two reasons...
If luggage gets lost, they have extra on-hand.
If the medications spill or a bottle breaks, you will always have a backup.
Pharmacies can provide an extra refill "early" for a vacation supply.
As for the flight, remember to always inform the flight crew of seizures and let them know if you call them, you will need immediate access to oxygen.
Patients with SCN8A often have hard to control seizures so there has been a lot of interest in alternative therapies. Cannabis oil has become more widely used over the recent years to treat epilepsy, sometimes alone, and sometimes in conjunction with other medications.
Most commonly the oil is CBD (cannabidiol) oil, one of the components of cannabis that is non psychoactive. Some patients do have better results when using an oil with THC in it also. According to our SCN8A family group survey, of the patients that have tried cannabis oil, over half have had positive results.
A few parents in states/countries with legal medical cannabis make their own oil for their children.
Others are buying it, mostly ordering from one of two companies. Charlotte’s Web and Haleigh’s Hope are both CBD oils that have been used by many children in the group. Both companies will ship the oil to all 50 states and internationally to several countries (see links below). The THC content is low enough (less than 0.3 percent) to qualify as hemp and the plants are grown under Colorado’s hemp laws.
Epidiolex is CBD oil made by GW Pharmaceuticals. It is currently undergoing clinical trials in the US. There are a couple children in the group that are trying Epidiolex in the trial through participating hospitals.
To obtain oil with higher amounts of THC you must go through your state or countries medical cannabis program. It cannot be shipped.
Although some neurologists have begun to study medical cannabis and will be involved in dosing, the experience of our group is that most do not play a very active role. Some patients travel to other states to see doctors that specialize in cannabis to get dosing advice.
Make sure the oil you choose comes from a reputable company that provides labs with its products.
Cannabis oil can interact with antiepileptic medications by preventing the liver from processing them. To avoid this, cannabis oil should be taken 2 hours apart from other epilepsy medications. You should get baseline labs before starting cannabis oil, and then while taking it, at regular intervals to watch for changes in medication levels.
Cannabis oil is still illegal under federal law in the US and in some other countries, and it is not FDA approved. This means it is not covered by insurance and has to be paid for out of pocket.
Many of our families have had to face numerous doctor visits and hospitalizations. During those visits, families struggle finding physicians not only familiar or willing to work with the SCN8A mutation, but they often have difficulty finding the appropriate protocol to follow.
It is crucial to provide information to help insure proper treatment. One of the easiest ways to do this is by having a copy of the SCN8A Epilepsy Clinician Information & Reference Guide on hand at all times, in addition to giving copies to your child’s primary care physician and neurologist. Please also refer them to the SCN8A.net website for further information.
Things that we know that are important to discuss during your appointments and hospitalizations.
Medications tend to be metabolized much faster with SCN8A children than normally developing children. It is crucial that the AED’s are pushed at an aggressive level to ensure they can do their job. Be sure they are aware that sodium channel blockers tend to be the most successful medications for treatment (see Medications).
Medication and CBC levels should be checked often with blood work, especially if the child is presenting or seizing more often than their baseline. Medication levels are usually higher than “textbook” and while that is OK for most SCN8A patients, it is important to make sure all bodily levels are not at critical levels.
EEG’s are important in providing information in regards to seizure types, where they are located, if medications potentially have affected the brain and if seizure types change.
Have a written plan of action approved by your doctor in case of hospitalizations, including medications to be used and/or avoided during emergencies. Keep this on hand at all times.
Rescue Medications – Everyone should have some form of rescue meds to help in case of emergencies that can be managed at home.
Have a discussion about SUDEP. It is crucial to have an open conversation to acknowledge risks and precautions (See SUDEP).
ALL children should be on a pulseox to monitor heartrate while sleeping. We are aware that SCN8A presents itself not only in brain tissue, but heart tissue as well (See Monitors).
24 hr heart monitoring/holster monitor should be performed once a year, as we know SCN8A presents itself in brain and heart tissue. It is important to keep an accurate history of the heart so that if there are any detected changes, they can be treated appropriately.
After giving your physician the clinician guide and SCN8A.net site, ask them if they are honestly comfortable and willing to help with appropriate care. If not, ask if they have a reference for someone that can provide the dedication and care necessary for successful treatment.
Trust your parent intuition. If something does not feel right, respectfully speak up, ask questions and keep asking until you are satisfied and comfortable with the answer and understand the reasoning behind certain decisions. You do not have to settle for an answer. No one knows your child better than you. When in doubt, you can always consult patient advocacy to help with communication.
Education for Children with Special Needs
Education for a child with special needs varies country-to-country, state-to-state and even city-to-city. It is also truly an individual choice by the parent’s for their child. If a child is physically able to attend school, it can be a wonderful experience for that child. School provides stimulation, socialization and will prepare you and your child for life after graduation.
Around the world, most children have access to some type of early intervention, which is for infants through age 3 who have developmental delays. This usually includes occupational, physical, and speech therapy, and some also include play therapy.
When a child turns age 3, they are eligible for school in most countries. In the US, an IEP (Individual Education Plan) is created for the child and is updated yearly. This is when you and the school decide what the child needs and how the school can provide it. For example, do they stay in a special needs classroom all day or a go to an inclusive program? What therapies do they need and do they require a one to one aide or nurse? If a parent chooses to send their child to private school they can usually access therapies via the public sector, but their education programs tend to be limited.
In Spain, there is not a public special needs preschool so if the child needs more care or supervision, which they can’t get at public school, they must attend a private special needs preschool. This is paid for by the government however. They can also receive their therapies there as well.
In the UK, Italy, and Canada, the school programs are similar to what is provided in the US.
It also appears world wide that parents can choose to educate their children at home. This can be either by the public school system coming to the home or by homeschooling themselves.
Nursing services also vary worldwide. Some school systems have a nurse at every school, and some may have only one nurse per city or county. Some systems can provide one on one nursing for your child and others you may have to train teachers or administrators to help your child during a seizure. It is important to inquire about this and come up with a safety plan for your child.
If you have a child with special needs, the sooner you look into early intervention the better. Not only will they help to get the therapies your child needs, but as your child gets closer to school age, they can assist you in getting set up with the school system.
Emergency medications are used in the event that seizures do not stop in a predetermined amount of time, which is decided by a child’s neurologist, based on the individual needs of the child. These medications can be administered inside of the mouth (buccal), rectally, dripped or sprayed into the nose (intranasal), or injected into the vein or muscle (intravenous-IV or intramuscular-IM).
Two very common emergency medications used include Diastat (Diazepam) and Ativan. Another common medication used to stop continued seizures is Midazolam. It is also not uncommon for a child’s daily medication(s) to be given as an emergency medication (e.g., Dilantin, Clorazepam, Depakote, etc.). Some children are also prescribed two emergency medications, one as the primary, and the other in case the first does not work, or work within a timely manner.
Parents should speak with their child’s neurologist about developing an emergency plan in the event that a child’s seizure does not stop on its own. This plan should include what emergency medication(s) are to be used, and specifically when it/they are to be administered. This plan should be provided to all of the child’s caregivers, including their school, the EMT’s in the event that they are called, and the doctors at the ER who first treat the child.
Parents may also want to consider having Keppra (Levetiracetam) added to their child’s medical record as a contraindication. Additionally, this information should be included on the emergency plan. Given that Keppra has proven to be largely unsuccessful in children with the SCN8A mutation, and in some cases actually worsened their seizures, the use of Keppra as an emergency medication should be avoided.
Future Family Planning: Prenatal Testing for SCN8A
Even if both parents have undergone blood tests that are negative for the SCN8A mutation present in their child(ren), there remains a small chance of one of the parents having a "germ-line" mutation, meaning that a certain proportion of either the male's sperm or the female's eggs could possess the mutation. At this stage in technology, there is no reliable method for determining the presence of a germline mutation thereby creating the potential to pass it on to a certain proportion of our children. Prenatal testing by CVS (Chorionic Villus Sampling) or amniocentesis which each carry their own risks to the fetus, are the only commonly used options available to test an existing pregnancy in the United States. Other countries have access to cell-free DNA testing which is a non-invasive form of prenatal testing that's conducted by drawing blood from the pregnant mother. Read more here: https://en.wikipedia.org/wiki/Cell-free_fetal_DNA
A mutation on the SCN8A gene is a gain-of-function mutation, causing an increase in neuronal excitability. This excessive firing of neurons is what causes our children to experience seizures. Given that the SCN8A gene encodes the sodium channel Nav 1.6, treatment should include medications that are characterized as sodium channel blockers. Keppra, also known as Levetiracetam, does not fall into this category, and as a result, has not proven very successful with our children.
While on Keppra, many children with SCN8A epilepsy experienced an increase in seizure frequency and severity. Once weaned, improvement in many areas was noted, including behavior, alertness, and cognitive functioning. An increase in seizure control was also obtained, once another AED(s) was added at therapeutic levels. Again, medications that fall into the category of sodium channel blockers have been found to be the most effective.
In May 2016, Dr. Michael Hammer reported the results of a survey he conducted on 50 families within the SCN8A support group. Dr. Hammer reported that Keppra usage resulted in a 90% failure rate, with no improvement noted, or with seizures becoming worse. It is also important to note that within the support group, more than 80% of the children have been weaned from Keppra due to its ineffectiveness.
It has been found that those medications which do in fact work for our children, have to be prescribed at very high dosages. Keppra is typically an AED that causes less cognitive slowing when compared to other seizure medications (i.e., Phenobarbital, Depakote), which is why it is often prescribed as a first attempt at seizure control; however, if seizures are worsened because of Keppra, then it can still be indirectly correlated to cognitive dysfunction.
In December 2015, one of the family members within the SCN8A support group posted information regarding an FDA approved and NIH funded drug trial for the treatment of Status Epilepticus in emergency rooms. For this study, Keppra, along with two other emergency medications, would be given on a randomized basis and in very high doses. One of the important features of this trial is that the standard requirement for receiving informed consent before inclusion has been waived by the FDA and NIH. Every patient coming to one of the participating facilities who is eligible for the study would be considered for randomized treatment using one of the three medications being tested. If you are concerned about your child receiving Keppra in this clinical trial, the best action may be to talk to your child’s doctor about adding a contraindication for Keppra/Levetiracetam to your child’s medical record.
In summary, not only has Keppra been found to be highly ineffective in children with SCN8A epilepsy, but in many instances, has made seizures worse in terms of frequency and severity. Medications which have demonstrated the most effectiveness in those children with this type of epilepsy, include AED’s which fall into the category of sodium channel blockers.
Movement Monitors, Breathing Monitors, and SleepSafe Pillows
Each monitor has different pros and cons and would come to personal preference, individual age/mobility, and seizure-type. Many people choose to use a combination of monitors to gain the maximum benefit as they work together with each of their strengths.
Some points about each:
EMFIT is a monitor that detects tonic-clonic seizures by use of a pad that is laid under a mattress so it can detect rhythmic motion. It is limited in that it is under the mattress, so if a person who is mobile gets out of bed and falls asleep on the floor, you'd never know if he/she was having a seizure. It does have a minimum weight requirement so isn't recommended for infants. Its use is first recommend at 2-3 years. Use has been established and positive feedback is overwhelming. Grants are available to financially aid in the purchase of this device.
Best populations to use this:
Toddlers, children, and adults who sleep in a bed with a regular mattress (crib mattresses are fine but need a solid piece of wood to lay the mat on).
AMi is a whole-room monitor with a camera and motion detection so it will pick up rhythmic activity ANYWHERE in the room. It will occasionally false alarm if curtains or something similar were to move from the airflow of an air conditioning vent, etc. the device records seizure activity for future viewing. It can be very useful for children but its use would be limited when children are of an age where privacy is essential due to the video surveillance. Use has been established and positive feedback is overwhelming. Grants are available to financially aid in the purchase of this device.
Best populations to use this:
Individuals who often get out of bed due to roaming the room (toddlers and young children), auras, sleep-walking, etc.
Empatica's EMBRACE is a wearable watch (or ankle-bracelet depending on the size of the individual) that detects electrical activity and heart rate, but does not measure blood oxygen saturation. It must have a Bluetooth-paired smartphone or iPod which then alarms wirelessly to a caregiver smart phone, tablet, or iPod that has the alert app installed. It is purported to have the ability to alarm before a seizure begins. Grants are available to financially aid in the purchase of this device.
Best populations to use this:
It seems effective for all ages and populations. Note the need for young children to have the Bluetooth-paired device on their person for this to work during active hours.
Pulse oximetry (different brands and types) measures oxygen saturation in the blood as well as heart rate. It has parameters set (usually by a respiratory therapist) as ordered by a physician that are patient-specific based on age, normal ranges for the individual, etc. It can be used for spot checks during seizures, can be used always, or can be used during sleep. It has a cord that attaches either to a finger, toe, or foot (in tiny infants) and alarms when any parameter(s) is/are out of range. Limitations of pulseox are: it alarms in the room the individual is sleeping, it is a corded-device making it very challenging for use in individuals who are mobile, it will false alarm frequently if the connection and infrared signal isn't perfectly aligned, and it requires the continual purchase of disposable sensors. Its use is established and positive feedback is overwhelming. In the USA it requires a doctor's order and oftentimes is only covered by insurance with a diagnosis of sleep apnea or the experience of an acute life threatening event (ALTE) but isn't usually approved for use in epilepsy.... YET!
Best populations to use this:
For full-time and/or sleep use: Newborns through crib-confined toddlers or any individuals who are immobile due to the cord connection.
SleepSafe Pillows. Made and sold in The UK, these pillows are considered anti-suffocation in the event that a person experiences a seizure while facedown during sleep.
If you have an interest in any specific monitor here are some foundations that can offer more information and/or financial assistance:
Phenytoin, more commonly known as Dilantin, is a sodium channel blocking AED medication. Dilantin is not always the first choice of drugs for seizure control because it can be difficult to manage in addition to some undesirable side effects.
Among the families that currently use Dilantin, many have found that for no known reason their child’s level can go from therapeutic to either non-existent or even toxic causing breakthrough seizures. Some common side effects include gum hyperplasia (overgrowth), excessive hair growth, poor coordination, and difficulty sleeping. The most successful levels tend to be around 20 or higher (this of course will vary from each individual case). Some positives results in addition to seizure control include improved engagement, focus and emotional connection.
It is crucial that children on Dilantin get their levels checked frequently to make sure their levels are in their therapeutic range so any necessary adjustments can be made accordingly.
Many of our children presented with one seizure type. Sadly, many developed to have multiple seizure types. And continue to have multiple seizure types. Some known reasons to cause a seizure change could be illness or medication changes.
Most changes are unknown. The most common seizure type is a Generalized Tonic Clonic. Some others have Absence, Myoclonic, Complex Partial, Tonic, and Simple Partial. Only a few have had Infantile Spasms and even less SCN8A children have Sub-Clinical, Atonic or no seizures at all.
Sudden Unexplained Death in Epilepsy (SUDEP)
SUDEP- Sudden Unexpected Death in Epilepsy is the sudden, unexpected, witnessed or unwitnessed, death in someone with epilepsy. In SUDEP, no other cause of death is found on autopsy. It is not known exactly what causes SUDEP, but there are several theories, such as irregularities in heart rhythm and breathing. Research from mice models and early patient data suggests that people with the SCN8A mutation may be at a higher risk for SUDEP than the general epilepsy population. While there is nothing that can be done to prevent SUDEP, the best ways to try and reduce the risk are maximizing seizure control and monitoring.
There are several monitoring choices, depending on which fits the person best (see monitors). The most common within our SCN8A population at this time, based on group discussions, are pulse ox, video monitors (regular baby monitor or seizure specific, like SAMI) or co-sleeping.
Because the SCN8A mutation can be expressed in cardiac tissue, it is recommended that all patients have at the least, an EKG, but preferably 24-hour holter monitoring to check for any already present, underlying cardiac issues. This can help reduce the risk for SUDEP by identifying and treating these issues proactively. You may also need to avoid certain medications than can aggravate underlying cardiac issues.
Research on SUDEP, its causes, as well as what seems to place the SCN8A population in a higher risk category is constantly ongoing. Below are links to information on SUDEP in general and SCN8A in SUDEP and cardiac arrhythmias.
Support for the need for Drug Monitoring
Here are a few articles that support looking at levels and especially trialing high dose oxcarbazepine or phenytoin in the SCN8A population.
From the above article:
"Pariente-Khayat et al. observed that in younger children (2.3–5.5 years), the AUC of MHD (but not the Cmax) was significantly lower and the elimination half-life of MHD was shorter than in older children (6.2–12.5 years). The results suggest that the same initial mg/kg dose should be given to children aged 6–12.5 years and to adults, but that the dose should be higher in children aged 2–6 years. This is in accordance with a recent study of Dulac et al. who reported that the younger children (2–5 years) had about 34% lower mean trough plasma MHD concentrations compared with older children (6–12 years) despite about 38% higher oxcarbazepine dosages (per kg bodyweight). This agrees with our clinical experience that younger children need a higher oxcarbazepine dose per kg bodyweight to achieve MHD concentrations comparable with those in adults."
This next article explains needing very high doses of phenytoin in SCN8a patients.
And this one supports using higher doses in infants as young as 1 month
Article: Clinical Pharmacokinetics of Oxcarbazepine
Section 7 page 1036
In children we start with an oxcarbazepine dos- age of 8–10 (or 12) mg/kg bodyweight/day given in one or two doses. Dosage can be increased in steps of 75–150mg (or 300mg) every third or fifth day, depending on bodyweight and tolerance, up to initial daily dosages of 30 mg/kg. Depending on the an- ticonvulsant effect, occurrence of adverse effects and serum concentrations, we increase the ox- carbazepine dosage up to 50 mg/kg bodyweight. For younger children and patients receiving comedica- tion, oxcarbazepine dosages might need to be higher to reach equivalent serum concentrations.
Good discussion on drug monitoring and diurnal fluctuations in metabolite. This would be especially useful to know if there is concern for correlating dose to efficacy / side effects.
One main point is that there are no good studies on toxicity/outcomes relative to dose and that really you just have to monitor the individual carefully.
Example of a Seizure Action Plan
Provide a description for school personnel:
Roll child onto side (he/she may drool or vomit during seizure)
Start recording (descriptions don't work nearly as well for parents, EMTs, or hospital staff as recordings do). ***Fill out a release if needed so any staff member can record****
Provide rescue medication per neurologist protocol (eg. at onset or greater than 5 min).
Provide supportive care, begin CPR if necessary.
Administer O2, monitor O2 sats (may dip into single digits during seizure). Continue CPR if warranted.
If seizure persists or clustering, intranasal versed
If seizure persists or clustering, intravenous fosphenytoin
Contact primary neurologist
Provide continuous EEG (begin immediately in ED upon intake). This is mandatory to rule out sub-clinical seizures.
Versed drip if seizures persist after fosphenytoin
Below there are a few pointers that might be helpful:
Seizure Observation Log: for charting during the event of a seizure. This is important to pass along to EMS when they arrive. The timing and description of the seizure are of utmost importance to know what measures to take during transport and/or upon hospital admission.
Also, below is a link to an 18-minute video that the EF also recommends people watch as a general overview of epilepsy. Consider asking educators and therapists to watch this as a group before the training session.
Contact local Epilepsy Foundation chapter for specialized training for school personnel.
Therapy equipment is very important to aid in the development of children with special needs, but can be very tricky in determining what is appropriate for your child and what insurance pays for. Therefore if you have access to a developmental pediatrician or a pediatric physiatrist who are trained in assessing your child’s needs, are knowledgeable on how to order the equipment and know how to navigate the insurance system, you will be much better off. Physical and occupational therapists can order equipment as well through your primary care doctor, but they don’t always know the in’s and out’s of insurance. Below is a list of equipment your child may need and the brands that are out there.
Special needs beds:
- Hospital bed
- Beds by George
- Sleep Safe Bed
- Comfy-Lift bed by Posthera
- Quoddy by Centrobed (UK)
- Courtney Bed
- Noah’s World
Kidcart- (hard to transport)
Leckey seating system with transport base
Snug seat Stingray
Contours stroller by Kolcraft (double stroller)
Snap and Go Stroller (large basket underneath)
Axiom Improv Stroller
Valco stroller (double stroller)
Bob Revolution SE
Leckey seating system
Rifton activity chair
Summer Infant Cradler
Foot and Leg Braces: (DAFO's, AFO's, and shoe inserts)
Most DAFO’s are made from a cast of your child’s feet and therefore are specific to your child. These provide full support to assist your child in standing and walking and help to keep their feet in alignment.
AFO’s are ankle/foot orthotics and do not need to be casted. They provide less support than the DAFO but will aid in walking and keeping proper alignment.
Shoe inserts are usually off the shelf and are recommended for people with flat feet or who turn their feet in or walk on the insides of their feet, for example.
Most companies give a 3-month warranty, so if your child has a growth spurt in those 3 months, they will replace for free.
TLSO: (Thorasic Lumbar Support Orthotic)
Some vaccines are live-attenuated viruses and others still are inactivated (or dead) virus particles. Many are not live, however the purpose of both types of vaccines is to expose a child to the virus so that their systems have the opportunity to build up an immunity. As a result, it is not uncommon for children to experience mild side effects, such as a fever, rash, etc. Some vaccines actually have seizures listed as a side effect. Regardless of whether an individual has been diagnosed with a seizure disorder or not, having any type of illness lowers the threshold for a seizure to occur. Given this fact, the administration of vaccines and the potential for side effects, is a major concern for children with an SCN8A diagnosis.
Within the SCN8A support group, there has yet to be any pattern established as to which children are more likely to experience seizures following a vaccination. There are some children who experience no difficulties whatsoever, there are some who experience difficulties with every vaccine, and then there are some who only have issues with a particular vaccine. This is especially true with the Measles, Mumps, and Rubella (MMR) shot.
Those parents of children within our support group who do experience seizures following a vaccination, have reported that the severity can range from short, less intense seizures, to very severe seizures. To address these concerns, some parents have opted to not vaccinate their child at all, and others have worked with their neurologists to increase their child’s seizure medications around the time that they will be receiving their vaccinations. Due to differing incubation periods, which can range from 1-4 weeks, these increased medication dosages can last from days to weeks. Other children are vaccinated, but they do not receive live vaccines. Live vaccines use the weakened form of the virus.
For those parents who opt to not vaccinate their child, they should speak with their doctor about documentation that states that their child is medically exempt from vaccines. This will be particularly important when it comes to registering a child in daycare and/or school. It may also be beneficial to look into your particular states rules and regulations regarding vaccines and those children who are medically exempt.
A piece called, “Vaccines-Calling The Shots,” was originally aired on PBS in the Fall 2014, and was re-aired again in early 2017. Dr. Ingrid Scheffer, a neuroscientist and clinician, is interviewed for a segment where she discusses SCN1A and vaccines. The video can be accessed by visiting the following website: