There has been a growing interest in genetics as the key to unlocking the mysteries of the epilepsies. As a result of our RE tissue collection efforts there is interest in sequencing the DNA of individuals impacted by RE. We have already done some of this research, unfortunately without a breakthrough to date, but there are other organizations that we are interested in using our tissue for research. UCLA recently expanded our tissue bank concept to include other rare epilepsies. “The UCLA Rare Epilepsies & Brain Disease Tissue Bank (REBDTB) collects and banks remnant brain tissue, blood, cerebrospinal fluid (CSF) and other biological material from planned epilepsy surgery cases, connecting patients and families with researchers dedicated to understanding the molecular mechanisms underlying intractable epilepsy in children.” The cost of sequencing tissue has declined in recent years making this path of research more accessible providing hope that we may be able to unlock RE. The debate of whether RE is genetic or viral continues.
I am frequently asked about new drugs on the horizon. I have previously written about the new trials in France that are using anti-TNF drugs to treat RE. This research is being led by Stanslas Lagarde, MD, a clinical neurology resident at the Public Assistance Hospitals of Marseille and Aix Marseille University. Additionally, there is a doctor using Tysabri (Natalizumab), a multiple sclerosis drug to treat RE in the UK. There was interest in starting a trial with Tysabri in the US, but the manufacturer, Biogen would not make the drug available for this research. The other potential treatment on the horizon is CBD or medical marijuana. I have not come across a family that has tried CBD.
I still receive many e-mails from all over the globe from individuals and families impacted by RE. One recent e-mail was as follows, “Im just wondering if you can help me with some information. My son was diagnosed with RE when he was eight years old, he had a left hemispherectomy at eight an a half, and was seizure free for eleven years. He recently started having seizures again and my hospital is not being very helpful. I’m just wondering what could be the reason behind the sudden start up? ” These e-mails are tough to read, but one reason I always say that my daughter has RE. As this e-mail attests to we should not become complacent about our interest in understanding RE just because for the moment we are seizure free. In these cases, it is always best to get second opinions from organizations that have expertise in the treatment of RE. It is a mistake to rely on neurologists that only have seen one or two cases during their career.
It is important that all families new to RE have as much information as possible about the disease in order to make informed decisions about the best course of action. While doctors are of course helpful, it is the RE families that can offer the best advice as to possible options. These families can be found on the facebook page of the Hemispherectomy Foundation. They are a loving and supporting community, pre and post hemi that want to help. Additionally, the Brain Recovery Project does great work in the post-hemi world helping families navigate all kinds of therapies.