Manage Seizures
A common feature of SLC13A5 Epilepsy is seizures. Loved ones with SLC13A5 Epilepsy may begin having seizures within the first few days of life. Often, they are most difficult to control early in life. Multiple seizure types may be experienced. Seizures can be severe, lasting from minutes to hours. Sometimes seizures require rescue medications and hospitalizations.
Seizures are often difficult to control even with anti-seizure medications. These are known as refractory seizures. Some loved ones can achieve seizure control with a single seizure medication, but many require a combination of anti-seizure medications. Most loved ones with SLC13A5 Epilepsy remain on seizure medication into their adulthood, and then may continue to do so for their entire lives. In addition to anti-seizure medications, other therapies used by SLC13A5 Epilepsy loved ones are described below, including dietary, CBD, surgery and devices. Precision medicine is also on the horizon.
Anti-Seizure Medications (ASM)
Typically, anti-seizure medications (sometimes called ASMs or anti-epileptic drugs/AEDs) are the main line of defense for SLC13A5 Epilepsy treatment. There is no single medication or combination of medications that works for all persons with SLC13A5 Epilepsy. However, Phenobarbital, Depakote, and Acetazolamide may be more successful than other drugs. Doctors may try different medications for different types of seizures. They might also try different combinations of medications. The medication selection process can take time and patience as drugs are introduced to your loved one’s system, slowly increased or decreased in dosage, and a waiting period is observed to see what works. If a seizure medication does not work, the dosage should be decreased slowly with the supervision of a doctor. Seizure medications should not be stopped suddenly.
Dietary Therapy
When medications are not successful, your doctor might also recommend dietary therapies. Some dietary therapies like taking Triheptanoin and the Ketogenic diet were hypothesized to help patients with SLC13A5 Epilepsy. However, some loved ones’ seizures improved and others worsened while on the ketogenic diet. There have been no published clinical trial outcomes for Triheptanoin, but anecdotal evidence suggests that Triheptanoin has not been beneficial to those who have tried it.
Medical Cannabis (CBD)
Medical cannabis or cannabidiol (CBD) may also be recommended in some instances as a treatment option for people living with uncontrolled seizures. Supplements including Magnesium, Zinc, B12, and Citrate have only been tried informally.
Surgery & Devices
Brain surgery is not a common treatment for SLC13A5 Epilepsy.
Implanted devices including a Vagus Nerve Stimulator (VNS) and a Deep Brain Stimulation (DBS) may help some loved ones with SLC13A5 Epilepsy but have not been carefully studied.
Looking Ahead – Precision Medicine
In 2021, an innovative gene therapy treatment for SLC13A5 Epilepsy received a rare pediatric disease and orphan drug designation from the U.S. FDA and is in the preclinical stage for patients with SLC13A5 Epilepsy.