Care For Other Symptoms

Managing all aspects of your child’s diagnosis may require a team approach and include multiple therapies and therapists, assistive devices, and even Durable Medical Equipment (DME). Typically, your pediatrician and/or neurologist will help you determine the right interventions at the right time.

Right therapy at the right time:

Many of these therapies may be most effective when started as early as possible. However, when you start therapies may depend on the timing of the diagnosis, the availability of therapies, and the stability of your loved one’s seizures. Each patient’s timing will be unique. Not all therapies are for every person. The types of therapies may depend on the patient’s age, diagnosis, severity of challenges, level of disability, cognition, co-occurring conditions, and access. Also, therapies may be short and/or long-term.

A diversity of therapy providers:

Early intervention services may include trained teachers, Occupational Therapists (OT), Physical Therapists (PT), Speech & Language Therapists (SLT), Vision Therapists, School Nurses, and assorted others to support newborns through adulthood.

Interventions for physical, social, emotional and communication benefits:

Therapies may target motor development, coordination, strength, balance, cognition, play and life skills. There may be social and emotional benefits of treatment and therapy. Assistive devices and durable medical equipment are frequently used for safety, communication, movement, and daily living.

Interventions at home and school:

Team members may make visits to home, day care, or school, to both assess your loved one’s needs and provide services and support. Transportation to services may also be available.

Resources to find therapies at every age:

There are many resources to help you find and pay for the right therapies at the right time. While you may start with your private insurance or Medicaid to find doctors and other therapy providers, some of the best referral sources will include your doctors, hospital, school district, social workers, and Departments of Health or other state agencies. While different services may go by different names across states, generally services are divided into three age groups, as follows:

Ages 0-3: Early Intervention for ages 0-3. The CDC maintains a list for services by state.
Ages 3-5: Preschool Education e.g., “Committee of Preschool Special Education” (CPSE).
Ages 5-21+: Special Education e.g., “Committee on Special Education” (CSE). You can search for your state’s Special Education Agency.

Advocating for your loved one:

Always remember, you are the biggest advocate for your loved one. Trust your gut and advocate for what your loved one needs. Some treatments can be stressful or uncomfortable. Discuss the physical and emotional impacts of treatments with your loved one and their therapists. Your loved one’s readiness will guide your journey. Join TESS Research Foundation’s private Facebook group to ask about what has helped the children of other SLC13A5 parents and share your experience.

Therapies, assistive devices, & durable medical equipment (DME)

The information has been organized into several therapy categories and subcategories. Be aware that sometimes therapies cross over multiple areas.

Occupational Therapy (OT)

The “occupation” in occupational therapy does not refer to one’s profession. Rather, it refers to the everyday activities that give life meaning. Occupational Therapy helps with fine motor, cognitive, and sensory processing. It can help with performing the specific tasks of daily living and it can also teach ways of adapting or compensating for challenges. Specific tasks OT can help with may include:

writing and doing school work
using assistive devices and adaptive equipment
buttoning clothes and getting dressed
picking up small objects and grabbing
self-care, like eating, bathing, toileting
playing with toys

Occupational Therapy with assistive devices may include using items such as adaptive scissors, eating utensils, and drinking cups. Your therapist can help you identify the right equipment, as well as ways to fund their purchase. The TESS Research Foundation’s private Facebook group is also a great source for life hacks.

Feeding is a subcategory of Occupational Therapy. SLC13A5 Epilepsy may impact your loved one’s ability to safely swallow liquid and food, and as they age, this becomes increasingly difficult for them. Unsafe swallowing increases the risk of our loved ones aspirating fluid and particles into their lungs, which may result in aspiration pneumonia. Unfortunately, this could prove lethal to our loved ones due to their profound level of impairment. In severe cases, doctors may recommend the initial use of a nasogastric feeding tube, followed by a gastrostomy as a long-term solution. A gastrostomy is an opening placed directly into the stomach. The opening comes out onto the skin of the abdominal wall somewhere between the belly-button and the lower ribs, and is usually slightly to the left side. It allows food and medications to be placed directly into the stomach.

Play Skill. Developing the ability to play is an important part of a person’s development. It lies at the heart of learning to communicate and make sense of the world around us. Children who experience developmental delay, particularly before the age of 11, can benefit enormously from play. A few things to note in regard to developing play skills:

A Sense of Control. Play gives a child the opportunity to be in control. A child with epilepsy has so much in their lives that is out of their control. Through the medium of play, they can take back some ownership of their life and explore their own feelings and reactions to their condition and experiences.
Keeping Play Achievable. Play needs to be positive and rewarding. It needs to help build confidence and self-esteem, while allowing a child to explore both themselves and the world around them. A carer needs to allow the child to take control of their play and be willing to respond to the child at their level. Trying to engage a child in an activity for which they are not ready will almost certainly result in failure, frustration and disappointment on both sides.
Beneficial to Self-Development and Learning. Play gives children a chance to practice controlling their behaviour and learn about their emotions and reactions. Play can be used to develop skills in social interaction, communication, understanding, and imagination.
Some Play Resources. The American Youth Soccer Organization (AYSO) is an example of a recreational sports league for developmentally disabled children.
Several studies have confirmed that Music Therapy can be effective at reducing seizures and epileptiform discharges. The underlying mechanism of music therapy is unknown but it may offer another activity with many benefits.

Physical Therapy (PT)

Physical Therapy (PT) helps our loved ones perform large motor activities, including developing and strengthening muscles, improving balance and coordination, maintaining a range of motion of joints, and enhancing skills. This is particularly important for fully participating in the classroom, at recess, at work, at home, etc. It may include learning how to use adaptive equipment or how you can make your home, school, or work environment safe.

The vast majority of people with SLC13A5 Epilepsy benefit from physical therapy. These therapies can have a tremendous impact on your loved one’s progress and quality of life. Please keep in mind that it can take many years to reach major motor milestones; be patient and allow your therapy focus to shift. Do not be afraid to take a break or revisit skills at a later time.

Overall, PT is care that aims to help people function, move, and live better. People may use it to:

Improve movement or ability
Work on balance to prevent a slip or a fall
Learn to use assistive devices, like a walker or wheelchair
Prevent disability or surgery
Improve core muscle weakness
Control bowels or bladder
Get a splint, brace or Orthotics/Ankle Foot Orthosis (AFOs)
Relieve pain

Assistive devices used in physical therapy may include items like adaptive seating, walkers, standers, wheelchairs, etc. Your therapist can help you identify the right equipment as well as sources to fund their purchase. The TESS Research Foundation’s private Facebook group is a great source for life hacks. Also, everyday activities and recreational sports can supplement physical therapy. Your community may have a VIP or Challenger League as just two examples.

Aquatic Therapy (or performing physical therapy in the water) can be beneficial for a variety of individuals with neuromuscular or musculoskeletal disorders. Aquatic therapy differs from land therapy due to the specific properties of water. These unique properties decrease joint compression forces, may reduce inflammation and provide feedback for improving posture. The resistance of the water during therapy provides a safe environment for addressing balance, strength, and postural deficits. For those who may have difficulty exercising on land, aquatic therapy provides a comfortable and therapeutic medium in which to gain strength and endurance. It is not necessary for your loved ones to know how to swim before initiating an aquatic therapy program. Typically, the aquatic treatment plan is coordinated with a land-based physical therapy plan, and the aquatic treatment plan will vary based on patient diagnosis. Once your loved one’s aquatic goals are achieved, the program progresses to land-based focus as needed.

Hippotherapy often combines physical, occupational, and speech therapy, utilizing the natural gait and movement of a horse to provide motor and sensory input. It is based on improving neurologic functions and sensory processes, and is used for people with physical and mental disorders. To find a hippotherapist, visit here.

Cuevas Medek Exercise is another type of physical and occupational therapy, aimed at provoking improved postural responses, that some SLC13A5 Epilepsy families have reported is helpful.

Speech & Language Therapy (S/L)

People with SLC13A5 Epilepsy often have a significant difference between their expressive speech and their receptive language. Your loved one may become frustrated because they understand and have the desire to communicate, but they cannot verbalize their needs. Speech and Language Therapy may be able to help your loved one improve their expressive language and utilize assistive communication devices.

Speech therapists or Speech-Language Pathologists (SLPs) specialize in evaluating and treating people with speech and language problems. Speech therapy techniques are used to improve communication. These include articulation therapy, language intervention activities, and other kinds of activities depending on the type of speech or language disorder. Speech therapists often work with children in school settings to address how language and other cognitive problems affect academic function and daily living.

There are several speech and language disorders that can be treated with speech therapy. Below are some of the disorders that SLC13A5 Epilepsy families have identified as associated with SLC13A5 Epilepsy. Severe expressive language disorders may be most common among SLC13A5 Epilepsy loved ones, but their ability to understand and process what others say (receptive disorders) may not be as severely impacted.

Expressive disorders. An expressive language disorder is a difficulty conveying or expressing information. If one has an expressive disorder, you may have trouble forming accurate sentences, such as using incorrect verb tenses. It’s associated with developmental impairments.

Receptive disorders. A person with a receptive language disorder has trouble understanding and processing what others say. This can cause them to seem uninterested when someone is speaking, have trouble following directions, or have a limited vocabulary.
The inability to perform learned (familiar) movements on command, even though the movement command is understood and there is a willingness to perform the movement.

Low tone mouth and facial muscles. This presents as a weakness or inability to control the muscles used for speech, e.g., Dysarthria, or inability to properly form certain word sounds, e.g., articulation disorders.

Fluency disorders. These affect the flow, speed, and rhythm of speech, e.g., stuttering.

Cognitive-communication disorders. These are a difficulty with any aspect of communication that is affected by disruption of cognition, including: difficulty with attention, memory, organization, problem solving/reasoning, and executive functions.

Speech and Language Therapy may utilize interventions, as well as assistive devices. Interventions may include learning simple American Sign Language (ASL) for basic needs (e.g., more, all done, eat, me/mine). Gesturing and pointing can be helpful to communicate as well.

Once children are preschool age, assistive devices may be introduced. A Picture Exchange Communication System (PECS) may be helpful. PECS training teaches an individual to give a single picture of a desired item or action to a therapist, teacher or caregiver who then immediately honors the exchange as a request. The system goes on to teach discrimination of pictures and how to put them together in sentences. In the more advanced phases, individuals are taught to use modifiers, answer questions, and comment. The primary goal of a PECS is to teach functional communication. Research has shown that some learners using a PECS also develop speech. They may transition to a speech generating device (SGD), such as an app on an iPad or a stand-alone durable medical equipment (DME). Frequently all of these strategies are used in combination (multimodal communication).

Your loved one’s therapist can help you identify the right assistive devices, as well as resources to fund their purchase. The TESS Research Foundation’s private Facebook group is a great source for life hacks. Music classes, play dates, interactions with typical siblings and peers (e.g., Best Buddies), and everyday activities can supplement speech and language therapy.

Therapies for Vision, Nutrition, Behavior and More

SLC13A5 Epilepsy caregivers have also reported therapies for vision, nutrition, and behavior to be helpful for loved ones diagnosed with SLC13A5 Epilepsy. If you have specific suggestions or questions, join the TESS Research Foundation’s private Facebook group.

A word on Durable Medical Equipment (DME)
Durable medical equipment for SLC13A5 Epilepsy can range from specialized beds to pulse oximeters. Typically the equipment is used to monitor loved ones and keep them safe. It can also provide comfort, facilitate activities of daily living, and/or lower your loved one’s seizure threshold in certain situations. We illuminated some DME in each therapy section. Other items that SLC13A5 Epilepsy families have found helpful include: cooling vests for summer heat, specially tinted glasses for photosensitivity, seizure monitors, pulse oximeters, adaptive strollers, and closed-circuit cameras in the loved one’s bedroom. Medicare or insurance may cover the cost of the equipment.

Care For Other Symptoms